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Gene: SAP30L (SAP30 like) Homo sapiens

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Symbol:

SAP30L

Name:

SAP30 like

RGD ID:

1606218

HGNC Page

HGNC:25663

Description:

Enables several functions, including non-sequence-specific DNA binding activity, bending; phosphatidylinositol phosphate binding activity; and zinc ion binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in fibrillar center and nucleoplasm. Part of histone deacetylase complex.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

DKFZp667L2214; FLJ11526; FLJ23595; FLJ36497; HCV non-structural protein 4A-transactivated protein 2; histone deacetylase complex subunit SAP30L; NS4ATP2; SAP30-like; sin3 corepressor complex subunit SAP30L; sin3-associated protein p30-like; Sin3A associated protein p30-like

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Sap30l (SAP30-like)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Sap30l (SAP30-like)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Sap30l (SAP30 like)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	SAP30L (SAP30 like)	NCBI	Ortholog
Canis lupus familiaris (dog):	SAP30L (SAP30 like)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Sap30l (SAP30 like)	NCBI	Ortholog
Sus scrofa (pig):	SAP30L (SAP30 like)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	SAP30L (SAP30 like)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Sap30l (SAP30 like)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Enpp1 (ectonucleotide pyrophosphatase/phosphodiesterase 1)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Sap30l (SAP30-like)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Sap30l (SAP30-like)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	sap30l (sap30-like)	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	Sap30	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	sap30l	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	sap30l.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	sap30l.L	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	154,445,997 - 154,461,053 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	154,445,997 - 154,461,053 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	153,825,557 - 153,840,613 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	153,805,776 - 153,816,067 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	5	149,901,175 - 149,916,278 (+)	NCBI		Celera
Cytogenetic Map	5	q33.2	NCBI
HuRef	5	148,966,241 - 148,981,334 (+)	NCBI		HuRef
CHM1_1	5	153,256,318 - 153,273,030 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	5	154,979,944 - 154,995,012 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

familial adenomatous polyposis 1 (IAGP)

Hereditary Neoplastic Syndromes (IAGP)

polycystic ovary syndrome (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(S)-nicotine (ISO)

1,2-dimethylhydrazine (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2-methylcholine (EXP)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-sulfonyldiphenol (ISO)

all-trans-retinoic acid (EXP)

antirheumatic drug (EXP)

aristolochic acid A (EXP)

benzo[a]pyrene (ISO)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

bisphenol F (EXP,ISO)

butanal (EXP)

cadmium dichloride (EXP)

carbamazepine (EXP)

CGP 52608 (EXP)

choline (ISO)

cisplatin (ISO)

cobalt dichloride (EXP)

copper(II) sulfate (EXP)

cyclosporin A (EXP)

DDE (EXP)

dexamethasone (EXP)

Dibutyl phosphate (EXP)

dicrotophos (EXP)

disodium selenite (EXP)

endosulfan (EXP,ISO)

ethanol (ISO)

fenthion (ISO)

finasteride (ISO)

flutamide (ISO)

folic acid (ISO)

FR900359 (EXP)

gentamycin (ISO)

hydrogen peroxide (EXP)

indometacin (EXP)

kainic acid (ISO)

L-methionine (ISO)

methidathion (ISO)

methyl methanesulfonate (EXP)

methylparaben (EXP)

nefazodone (ISO)

nicotine (ISO)

nitrates (ISO)

paracetamol (EXP,ISO)

quercetin (EXP)

resveratrol (EXP)

succimer (EXP)

sulindac (ISO)

sunitinib (EXP)

tetrachloromethane (ISO)

thiram (EXP)

titanium dioxide (ISO)

trichloroethene (ISO)

trichostatin A (EXP)

valproic acid (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

negative regulation of cell migration (NAS)

negative regulation of stem cell population maintenance (NAS)

negative regulation of transcription by RNA polymerase II (IDA,NAS)

negative regulation of transforming growth factor beta receptor signaling pathway (NAS)

positive regulation of stem cell population maintenance (NAS)

regulation of DNA-templated transcription (IBA)

Cellular Component

fibrillar center (IDA)

histone deacetylase complex (IBA,IDA)

nucleolus (IDA,IEA)

nucleoplasm (IDA,TAS)

nucleus (IEA,NAS)

Sin3-type complex (NAS)

Molecular Function

DNA binding (IDA,IEA)

histone binding (IDA)

lipid binding (IEA)

metal ion binding (IEA)

non-sequence-specific DNA binding, bending (IDA)

nucleosome binding (IDA)

phosphatidylinositol-3-phosphate binding (IDA)

phosphatidylinositol-4-phosphate binding (IDA)

phosphatidylinositol-5-phosphate binding (IDA)

protein binding (IPI)

transcription coregulator activity (IBA)

zinc ion binding (IDA,IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:9651585	PMID:10843801	PMID:12477932	PMID:14680513	PMID:14702039	PMID:15302935	PMID:16484223	PMID:16820529	PMID:18070604	PMID:19015240	PMID:20588308	PMID:21258344
PMID:21873635	PMID:22865885	PMID:22984288	PMID:23535033	PMID:23752268	PMID:25035420	PMID:25416956	PMID:25609649	PMID:26186194	PMID:26609676	PMID:26841866	PMID:27609421
PMID:27705803	PMID:28514442	PMID:28554894	PMID:29509190	PMID:29844126	PMID:29911972	PMID:30599235	PMID:30804502	PMID:31266804	PMID:31753913	PMID:32296183	PMID:33961781
PMID:35271311

Genomics

Comparative Map Data

SAP30L
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	154,445,997 - 154,461,053 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	154,445,997 - 154,461,053 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	153,825,557 - 153,840,613 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	153,805,776 - 153,816,067 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	5	149,901,175 - 149,916,278 (+)	NCBI		Celera
Cytogenetic Map	5	q33.2	NCBI
HuRef	5	148,966,241 - 148,981,334 (+)	NCBI		HuRef
CHM1_1	5	153,256,318 - 153,273,030 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	5	154,979,944 - 154,995,012 (+)	NCBI		T2T-CHM13v2.0

Sap30l
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	57,692,439 - 57,705,707 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	57,692,463 - 57,701,043 (+)	Ensembl		GRCm39 Ensembl
GRCm38	11	57,801,637 - 57,810,615 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	57,801,637 - 57,810,217 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	57,615,139 - 57,624,117 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	57,617,832 - 57,626,810 (+)	NCBI		MGSCv36	mm8
Celera	11	62,554,055 - 62,562,570 (+)	NCBI		Celera
Cytogenetic Map	11	B1.3	NCBI
cM Map	11	35.27	NCBI

Sap30l
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	42,480,201 - 42,488,139 (+)	NCBI		GRCr8
mRatBN7.2	10	41,979,730 - 41,992,307 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	41,979,687 - 41,987,658 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	46,642,271 - 46,650,201 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	46,132,533 - 46,140,459 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	41,636,157 - 41,644,084 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	43,224,151 - 43,231,864 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	43,224,269 - 43,231,611 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	43,023,126 - 43,031,220 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	43,396,414 - 43,404,655 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	10	43,410,173 - 43,418,013 (+)	NCBI
Celera	10	41,271,789 - 41,279,601 (+)	NCBI		Celera
Cytogenetic Map	10	q22	NCBI

Sap30l
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955408	8,827,738 - 8,832,588 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955408	8,827,744 - 8,832,588 (+)	NCBI	ChiLan1.0	ChiLan1.0

SAP30L
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	4	149,653,189 - 149,668,266 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	5	147,792,734 - 147,807,812 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	5	149,847,937 - 149,863,052 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	5	155,846,056 - 155,861,300 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	5	155,846,866 - 155,856,273 (+)	Ensembl	panpan1.1		panPan2

SAP30L
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	4	55,247,912 - 55,261,655 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	4	55,252,938 - 55,262,207 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	4	55,139,143 - 55,152,822 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	4	55,682,409 - 55,696,086 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	4	55,687,428 - 55,696,091 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	4	55,512,820 - 55,526,494 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	4	55,611,261 - 55,624,938 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	4	56,113,840 - 56,127,525 (-)	NCBI		UU_Cfam_GSD_1.0

Sap30l
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024407213	109,856,463 - 109,870,339 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936515	8,305,799 - 8,319,685 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936515	8,305,809 - 8,319,685 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SAP30L
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	16	68,695,900 - 68,709,742 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	16	68,695,892 - 68,709,952 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	16	74,604,899 - 74,619,284 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SAP30L
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	23	56,900,806 - 56,916,238 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	23	56,900,843 - 56,916,259 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666034	20,747,414 - 20,762,855 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Sap30l
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624733	34,744,554 - 34,757,764 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624733	34,744,638 - 34,757,727 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in SAP30L
15 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	copy number gain	See cases [RCV000051193]	Chr5:130860928..155321811 [GRCh38] Chr5:130196621..154701371 [GRCh37] Chr5:130224520..154681564 [NCBI36] Chr5:5q23.3-33.2	pathogenic
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	copy number gain	See cases [RCV000051863]	Chr5:149714592..181272151 [GRCh38] Chr5:149094155..180699152 [GRCh37] Chr5:149074348..180631758 [NCBI36] Chr5:5q32-35.3	pathogenic
GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	copy number loss	See cases [RCV000052144]	Chr5:152761187..167248053 [GRCh38] Chr5:152140747..166675058 [GRCh37] Chr5:152120940..166607636 [NCBI36] Chr5:5q33.1-34	pathogenic
GRCh38/hg38 5q33.1-34(chr5:153195314-164014005)x1	copy number loss	See cases [RCV000052145]	Chr5:153195314..164014005 [GRCh38] Chr5:152574874..163441011 [GRCh37] Chr5:152555067..163373589 [NCBI36] Chr5:5q33.1-34	pathogenic
NC_000005.9:g.(?_86400000)_(154000000_?)del	deletion	Familial adenomatous polyposis 1 [RCV004561496]\|Hereditary cancer-predisposing syndrome [RCV000554476]	Chr5:86400000..154000000 [GRCh37] Chr5:5q14.3-33.2	pathogenic
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3	copy number gain	See cases [RCV000449349]	Chr5:130125085..157574910 [GRCh37] Chr5:5q23.3-33.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	copy number gain	See cases [RCV000510723]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	copy number loss	See cases [RCV000053524]	Chr5:106619588..156124387 [GRCh38] Chr5:105955289..155551397 [GRCh37] Chr5:105983188..155483975 [NCBI36] Chr5:5q21.3-33.2	pathogenic
GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	copy number loss	See cases [RCV000138282]	Chr5:152443869..166104392 [GRCh38] Chr5:151823430..165531397 [GRCh37] Chr5:151803623..165463975 [NCBI36] Chr5:5q33.1-34	pathogenic
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	copy number gain	not provided [RCV000487658]	Chr5:94844077..178830410 [GRCh37] Chr5:5q15-35.3	likely benign
NM_024632.6(SAP30L):c.319C>G (p.Pro107Ala)	single nucleotide variant	not specified [RCV004311887]	Chr5:154451208 [GRCh38] Chr5:153830768 [GRCh37] Chr5:5q33.2	uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3	copy number gain	not provided [RCV000744317]	Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	copy number gain	Hunter-McAlpine craniosynostosis [RCV002280612]	Chr5:149010383..180719789 [GRCh37] Chr5:5q32-35.3	pathogenic
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)	copy number gain	not specified [RCV002053526]	Chr5:130125085..157574910 [GRCh37] Chr5:5q23.3-33.3	pathogenic
GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	copy number gain	not provided [RCV002474507]	Chr5:150535183..172906793 [GRCh37] Chr5:5q33.1-35.2	pathogenic
NM_024632.6(SAP30L):c.100G>A (p.Asp34Asn)	single nucleotide variant	not specified [RCV004110647]	Chr5:154446704 [GRCh38] Chr5:153826264 [GRCh37] Chr5:5q33.2	uncertain significance
NM_024632.6(SAP30L):c.40C>A (p.Pro14Thr)	single nucleotide variant	not specified [RCV004242715]	Chr5:154446644 [GRCh38] Chr5:153826204 [GRCh37] Chr5:5q33.2	uncertain significance
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	copy number gain	See cases [RCV000448245]	Chr5:106716357..180687338 [GRCh37] Chr5:5q21.3-35.3	pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	copy number loss	See cases [RCV000511978]	Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	copy number gain	See cases [RCV000512039]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3	copy number gain	not provided [RCV000744323]	Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5q33.2-33.3(chr5:153785664-156189369)x1	copy number loss	not provided [RCV000847656]	Chr5:153785664..156189369 [GRCh37] Chr5:5q33.2-33.3	uncertain significance
NM_024632.6(SAP30L):c.277A>G (p.Ser93Gly)	single nucleotide variant	not specified [RCV004078560]	Chr5:154451166 [GRCh38] Chr5:153830726 [GRCh37] Chr5:5q33.2	uncertain significance
NM_024632.6(SAP30L):c.56C>T (p.Ala19Val)	single nucleotide variant	not specified [RCV004087604]	Chr5:154446660 [GRCh38] Chr5:153826220 [GRCh37] Chr5:5q33.2	uncertain significance
NM_024632.6(SAP30L):c.379A>C (p.Lys127Gln)	single nucleotide variant	not specified [RCV004285373]	Chr5:154453456 [GRCh38] Chr5:153833016 [GRCh37] Chr5:5q33.2	uncertain significance
NM_024632.6(SAP30L):c.136T>G (p.Ser46Ala)	single nucleotide variant	not specified [RCV004658468]	Chr5:154446740 [GRCh38] Chr5:153826300 [GRCh37] Chr5:5q33.2	uncertain significance
NM_024632.6(SAP30L):c.319C>A (p.Pro107Thr)	single nucleotide variant	not specified [RCV004222642]	Chr5:154451208 [GRCh38] Chr5:153830768 [GRCh37] Chr5:5q33.2	uncertain significance
NM_024632.6(SAP30L):c.484A>G (p.Ile162Val)	single nucleotide variant	not specified [RCV004176460]	Chr5:154455960 [GRCh38] Chr5:153835520 [GRCh37] Chr5:5q33.2	uncertain significance
NM_024632.6(SAP30L):c.36A>C (p.Glu12Asp)	single nucleotide variant	not specified [RCV004225822]	Chr5:154446640 [GRCh38] Chr5:153826200 [GRCh37] Chr5:5q33.2	uncertain significance
NM_024632.6(SAP30L):c.527C>T (p.Ser176Leu)	single nucleotide variant	not specified [RCV004343964]	Chr5:154456003 [GRCh38] Chr5:153835563 [GRCh37] Chr5:5q33.2	uncertain significance
NM_024632.6(SAP30L):c.52C>T (p.Pro18Ser)	single nucleotide variant	not specified [RCV004855855]	Chr5:154446656 [GRCh38] Chr5:153826216 [GRCh37] Chr5:5q33.2	uncertain significance
NM_024632.6(SAP30L):c.499A>G (p.Ser167Gly)	single nucleotide variant	not specified [RCV004855853]	Chr5:154455975 [GRCh38] Chr5:153835535 [GRCh37] Chr5:5q33.2	uncertain significance
NM_024632.6(SAP30L):c.316A>G (p.Ile106Val)	single nucleotide variant	not specified [RCV004855854]	Chr5:154451205 [GRCh38] Chr5:153830765 [GRCh37] Chr5:5q33.2	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	2245
Count of miRNA genes:	1010
Interacting mature miRNAs:	1217
Transcripts:	ENST00000297109, ENST00000426761, ENST00000440364, ENST00000517926, ENST00000519683, ENST00000520159, ENST00000520731, ENST00000523029, ENST00000523198
Prediction methods:	Microtar, Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
407124848	GWAS773824_H	Alzheimer disease QTL GWAS773824 (human)		1e-08	Alzheimer disease		5	154457546	154457547	Human
597428119	GWAS1524193_H	electrocardiography QTL GWAS1524193 (human)		3e-14	electrocardiography		5	154458724	154458725	Human
597029689	GWAS1125763_H	response to angiotensin-converting enzyme inhibitor QTL GWAS1125763 (human)		0.000003	response to angiotensin-converting enzyme inhibitor		5	154450098	154450099	Human

Markers in Region

WI-13614

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	153,840,472 - 153,840,596	UniSTS	GRCh37
Build 36	5	153,820,665 - 153,820,789	RGD	NCBI36
Celera	5	149,916,137 - 149,916,261	RGD
Cytogenetic Map	5	q33.2	UniSTS
HuRef	5	148,981,193 - 148,981,317	UniSTS
GeneMap99-GB4 RH Map	5	587.7	UniSTS
Whitehead-RH Map	5	502.4	UniSTS
NCBI RH Map	5	891.6	UniSTS

RH103551

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	153,829,263 - 153,829,445	UniSTS	GRCh37
Build 36	5	153,809,456 - 153,809,638	RGD	NCBI36
Celera	5	149,904,918 - 149,905,100	RGD
Cytogenetic Map	5	q33.2	UniSTS
HuRef	5	148,969,983 - 148,970,165	UniSTS
GeneMap99-GB4 RH Map	5	586.8	UniSTS

G59515

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	153,831,772 - 153,831,871	UniSTS	GRCh37
Build 36	5	153,811,965 - 153,812,064	RGD	NCBI36
Celera	5	149,907,427 - 149,907,526	RGD
Cytogenetic Map	5	q33.2	UniSTS
HuRef	5	148,972,492 - 148,972,591	UniSTS
TNG Radiation Hybrid Map	5	71971.0	UniSTS

A009X35

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	153,835,484 - 153,835,625	UniSTS	GRCh37
Build 36	5	153,815,677 - 153,815,818	RGD	NCBI36
Celera	5	149,911,149 - 149,911,290	RGD
Cytogenetic Map	5	q33.2	UniSTS
HuRef	5	148,976,205 - 148,976,346	UniSTS
GeneMap99-GB4 RH Map	5	587.0	UniSTS
NCBI RH Map	5	891.6	UniSTS

PMC319701P1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	153,830,651 - 153,830,760	UniSTS	GRCh37
Build 36	5	153,810,844 - 153,810,953	RGD	NCBI36
Celera	5	149,906,306 - 149,906,415	RGD
Cytogenetic Map	5	q33.2	UniSTS
HuRef	5	148,971,371 - 148,971,480	UniSTS

PMC319701P2

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	153,832,962 - 153,833,060	UniSTS	GRCh37
Build 36	5	153,813,155 - 153,813,253	RGD	NCBI36
Celera	5	149,908,627 - 149,908,725	RGD
Cytogenetic Map	5	q33.2	UniSTS
HuRef	5	148,973,683 - 148,973,781	UniSTS

WI-12608

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	153,838,251 - 153,838,375	UniSTS	GRCh37
Build 36	5	153,818,444 - 153,818,568	RGD	NCBI36
Celera	5	149,913,916 - 149,914,040	RGD
Cytogenetic Map	5	q33.2	UniSTS
HuRef	5	148,978,972 - 148,979,096	UniSTS
GeneMap99-GB4 RH Map	5	586.8	UniSTS
Whitehead-RH Map	5	502.4	UniSTS
NCBI RH Map	5	891.6	UniSTS

WI-17163

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	153,831,761 - 153,831,910	UniSTS	GRCh37
Build 36	5	153,811,954 - 153,812,103	RGD	NCBI36
Celera	5	149,907,416 - 149,907,565	RGD
Cytogenetic Map	5	q33.2	UniSTS
HuRef	5	148,972,481 - 148,972,630	UniSTS
GeneMap99-GB4 RH Map	5	587.6	UniSTS
Whitehead-RH Map	5	502.4	UniSTS

STS-Z41280

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	153,840,478 - 153,840,551	UniSTS	GRCh37
Build 36	5	153,820,671 - 153,820,744	RGD	NCBI36
Celera	5	149,916,143 - 149,916,216	RGD
Cytogenetic Map	5	q33.2	UniSTS
HuRef	5	148,981,199 - 148,981,272	UniSTS
GeneMap99-GB4 RH Map	5	586.9	UniSTS

G32956

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	153,835,484 - 153,835,625	UniSTS	GRCh37
Celera	5	149,911,149 - 149,911,290	UniSTS
Cytogenetic Map	5	q33.2	UniSTS
HuRef	5	148,976,205 - 148,976,346	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001131062	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001131063	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_024632	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_024084	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417709	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054353458	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001742260	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC008625	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC026688	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF085957	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF157115	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF157116	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI144341	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI199517	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI436556	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK021588	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK027248	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK093816	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL833219	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL833381	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW874393	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY341060	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY846876	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC009829	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471062	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068273	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000297109 ⟹ ENSP00000297109

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	154,445,997 - 154,461,053 (+)	Ensembl

Ensembl Acc Id:

ENST00000426761 ⟹ ENSP00000416393

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	154,446,545 - 154,456,331 (+)	Ensembl

Ensembl Acc Id:

ENST00000440364 ⟹ ENSP00000390927

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	154,446,545 - 154,456,331 (+)	Ensembl

Ensembl Acc Id:

ENST00000517926

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	154,453,078 - 154,456,268 (+)	Ensembl

Ensembl Acc Id:

ENST00000519683

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	154,446,622 - 154,451,316 (+)	Ensembl

Ensembl Acc Id:

ENST00000520159

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	154,446,554 - 154,453,485 (+)	Ensembl

Ensembl Acc Id:

ENST00000520731

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	154,452,443 - 154,456,149 (+)	Ensembl

Ensembl Acc Id:

ENST00000523029

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	154,452,398 - 154,456,149 (+)	Ensembl

Ensembl Acc Id:

ENST00000523198

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	154,446,545 - 154,455,968 (+)	Ensembl

RefSeq Acc Id:

NM_001131062 ⟹ NP_001124534

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	154,445,997 - 154,461,053 (+)	NCBI
GRCh37	5	153,825,517 - 153,840,613 (+)	RGD
Celera	5	149,901,175 - 149,916,278 (+)	RGD
HuRef	5	148,966,241 - 148,981,334 (+)	ENTREZGENE
CHM1_1	5	153,256,318 - 153,273,030 (+)	NCBI
T2T-CHM13v2.0	5	154,979,944 - 154,995,012 (+)	NCBI

Sequence:

show sequence

GTGGTGCGGAGCGTTCGGCGGGCGGCGGCCGGGCGGCCCAGGGGCTGCCGCGGGACTCGGGGCG
CAGCCGAGTGGCTGCAGGGGTGGAGTGGGCCGGACGAGCCGCGGGGCCCGGGTGCCGCGGGTTC
GAGGCCGGGCCCCGCGCGAGGAGGCCGCGCCACCCCGGGGGAGCTGCCCGGCAGCGAGTTTGCC
CCGCTGCCGAAAGAAGGCGGGAGCCGGCAGGGGCCTTCGAAACCCCCTGGCAACCCAGGCCCGG
AGTCCTTGGGGAGCGGCTGTTTCCTGGGACGCCCTCCCGGACACCCCCGCTGCAGGGTTACGGT
TCTGGGCCCCCGGCAGAAGGCTCCTCCGGGTGACCCCCGGCGGGGCCCTGCGAGCCGCGGGAGC
CGACCCCGGGGCCTCGAGCCGGGAGGAAGGGGGCTTCCGGAGGCGGAGGGCCGGGGGCCGAGGG
AGCCGGGCCTCTCGGACGCGGGGCAGGGCAGCGCCCGGGCTGGAGACGGACTCTGGGACCCTCG
GCTGCGGGGGTCTCAGCGACCTGCCCCGCGGCAAGCGCGGCCGCGGAGTGGCCTACCGGGGACC
CTCCCCCAGAGGGACCGGCCCGGGGCGGGGAGATGAACGGCTTCAGCACGGAGGAGGACAGCCG
CGAAGGGCCCCCCGCCGCCCCAGCTGCCGCCGCCCCGGGCTACGGCCAGAGCTGCTGCCTCATC
GAGGACGGCGAGCGCTGCGTCCGGCCCGCGGGCAACGCCTCCTTCAGCAAGAGGGTCCAGAAGA
GCATCTCGCAGAAGAAACTCAAGCTGGACATCGACAAGAGCGTTGATCTGTTCCAGCTGCAGGT
GAACACCCTACGACGTTATAAACGACACTACAAGTTGCAGACCAGACCAGGCTTCAATAAGGCC
CAGTTAGCAGAAACTGTGAGTCGACACTTCAGGAACATACCTGTGAATGAAAAAGAGACCCTTG
CCTACTTCATCTACATGGTGAAGAGTAACAAGAGTAGACTGGACCAGAAATCGGAGGGTGGCAA
GCAGCTTGAGTGAGGATGAAGCACATCTTAAAGGAATGAAGTGTAATGCTTGATGCACAGGTGA
TATCTACTACATTTAAGCCCATAAAGACTGTTAAATATTATTGTAAATAAAAAAGTTTGAATGA
TGAATACTGTAAATCTTTTTGGTCAGGAGGATTATATTCTCATGATTCAGCATGTGTATAGAAA
GACTTTCTTTTACGATAACTCTGGACTAAAAAAATCAGGATCATTAAAAGAATTAAAAACTATG
TATTTCAGCATTCAACAAAGCATTAAATCAATTCTACTGGAAATGTGGGATAAGAAATATTTTG
GTAATCACCTTATCCACCAGGCTGCCACGTGTGAGCTGTAGCTTGGAATAGCAGCAAGGTGCAA
TTGGCCATGGAAGTGCATGAGCAGACCCACATCTGGACTTGCATGCTGCCCGCTGGCGACATAG
ATATCCCGCCCGCTTTGTTGCAAGCTTTGTCATTTATCAGCAGATCAGTTTGACACTGGTCCCC
CTCACTCACCCTGTGCCTTGTACACAGTAGGCACTCAATCAGTAGGTATTGGCTAATTGAGCTG
TCACTAATAGTGCCAGCCTTGTAACATCCGCTTCACACCTCTCATGACTGAGACCTCTGCCATT
TCTGTTGCTCACCACTTAACTGCTAGAATGTGGAGGAAATCCTGATGCACCAACAAGGAAGTTT
CTGATCAGATAAGGATTTCAGGACAGTTGCATGTGCAAAACTATTCGTTGAGGTTCCAGAAACA
CTGATATAGAGACCCTCACAGAAGATACGGTCCCTTATGCACCCCACTATGCTTCACTCTTTGG
GGTGCAGTTAGATATTATGACTTCAGCCAAGCTTCTTGGTAATAAATGCATTGACACACTGACA
TATTTAGTAGGTTGGGGCAAGTATTTTTAGAAGTTTTCATCCTAAGTTCACAACCACCATGCAA
GCTGCCAGGGGCCATGTGATTCCTGCCCAGAAGTTCAGCTTAGGATTGAAAGTCTGGCTGGCCT
TGACTCCCTGGGCTCTGGTCATCAGCAAATCATGAGTTTGGGCAACAAAGGTCAATTCCATCTG
ATGCTCATTTTTGTGAACAATTTGCCTCCCTCTTAGGGAGAAAGATTGCTAAAATAATTTTTGA
AAATTACCTAATTTTTTTGTTGTTCAAAACGTTGAACTCCTCAATCTAATTATATCAGAGCCAA
AGTATCCTGTGAAAACAAAGCTTTATATCCAAAAATGTGCTTTTGCAAAATTCTTTAATCTGTG
TAATGGAGGGCAGAGGGTATGGGGTAGGAGGGTGGGAGAAAGAAAAGAAAAGAATTTGGATTCT
AATTTATGACCATCTTGACATATGGTCAAAGGTGTCATTTTCCTACTCAGTTTCAATTCTGAGT
TAATTTCTTAAGCCTTAAATAATAAGAACAATGGACAGCCTGGCCTGGCAGAGAGTTTCACAGA
TGACTTAATCTGAGCACCATCACAGAGAAGTCAGGACTAAACCCCCTACTGAGCAGGGCGGCGG
AGTGTCCAAAGGTCTCAGTTCTGTGGAGCAGAGTACCACGCTTTCTGTGGAATGGGGACAGGGT
CACCACGCTCACTAAAATGCAGTATGTTCCATTGCAGCAAAGCTTTCGCCTGTGTTCAAAATGC
ATGTCTAGCAGATTGCAGCCTTTTAAATTAAATATATATAAATGGTTGTATATAGAATATACTC
TGGACTGTGAGGGCATCCTATTTTGGTATGCCTCCTGGCTGTGGATGGCATGTCCAGTGCTCTG
TGAGTGTTTTCAGTCATTCACATTCACTATGTGTTTAGAGATTCTCTCCCTGCTTACAGCTGAA
GGATGTTGATACAGGCATCAAGAAGGCTGAGGGGCAGATGGGGCCTGCAGGTTAAGGCATTGTT
AACTTGCTCCATGGAAATGTCCATATCTTAATGAGTAAAAAAGTGTATTTTTCTGATACGTAAA
CCAGAATTGTGGGCGTGTAGGTCACATCACTATTTCTTTAGCAGCAAATCTGTTTTCCCAGTTG
AGAGAGACAATAGCTTCTGCACAAGAATATATGATGGTAGGATCCATCTGTTCAATTGTGTCTG
AAAGAATCTTTATTCCAAAGCGAAACCTGGGGAAATGTTTTACCTTCAGCCAGATGCTGTGTGT
GTACTTGGGTCCCTTGTCTTTCCTCTAAGGAGAGGTGCTTGTGGAAAGTGGAGGTTGTGGGCAT
CTTTTCAACCTTTTCAATCTGACCTTTCAACAGGTCAGGTGAGAGAAAAGACAAAGCTATTTGA
ACCTATGTTTTTCTTATGTCCAGAAATCTGTTCTTTCATCAAACCACTAAACCACTCGCCTTAG
CCTCTTCTGCAGTTTCTGGTGGCTCTATCTGTGGGCAAGGGACTCCTGCCTGTGAGAAGTGGCC
AGGCCCTCCAGAGCAACGGGGTCTGGCTTCAGGGAGCAGTGGGGTGTGGGGAAAGCAATGTTCA
TCTTGGCTGCTCCATTTTTATACCATCCATCAAGGACTCTTGCGCTTCTCTCCACCTGTGACGT
AGCAGCATTGCCTTCTTTCCTCTTGGTGCTTCTGGGCAAAACTGGAATTTGAAATCCAGAACTG
GCGTTGTCTTCTTAAAGAGTATGGTTCCTGCCTCAGTTCCAGCCTGGTATGGTTCTTTGATATG
CCCTGAAGGTTCTCACATGGAAACATCAGTATCCTGCCATTCATGTTGTTTTAAGATGTTTTAA
AAACCAATGGACAAACTTCTTGCTTCAAGGAACAAACTCTTAGGTTGGCAACAGCATATAAAAA
AAAAGATCACAGCTGAATCTCATGAAAGATTAAAAACCAAAGGATTCAAGACCGGTGTTGTAAA
ATGAAGAGGAATTTTACTTACATGTTACAGCTGCCAAGTTTTTAGATGTTCCTGTCATAGCTAA
ATAGTCACTGCTAGCCTTTCAGAGAACAGATAGTAACAATTGTTTGCAGCTGCAGTGTTGCATC
TAATTTTGGTGTTTAGGCTTTTTATTTTGTGGGAAGCTTTTTGTTAATATCCTGCAGGGCAACT
GCCTGTTGGGAGGGAGAGGATGGAAGAAGGAGCTTACTCTGGGGGCCTTGCCTATTGAGGGAGG
CTGTTGCCCAGAGCAGTTGCTTCATGGAAGTCATCCAAAGGCGCTCTCAGTCATTACAATGACA
GGATCTCAAAGTTGGGAAAGGGCTGTTAAGTCATCCAGTCTAGTCTCCACATAGGTGCTGACAT
TCTGCCTACAACCATCCCACCAAGGGGTTGAGCAGTCTGGACTTAAACACCTCCGAGGACAGAG
AACCCACTACCTCGTGGAGAAGCCTGTTCTTTGTAAACCTCTGGCTTTTCTATGTTCTCTGTAA
TTTCCATCTTAGTCTCTGCCCCATGGGGGCCACATGGGACAAGTTATTTTTGGCAAAGCACCTA
ATTGCTGGCACTGTCCCAAAGCATAGCGTTTGCCTTTTGGAAAGAAACAATGCTAGGACATGGA
CACTTTGGTACACTGTCCTTACCCCTGAGTATTAGTCCACTCAGTTCCTTGTTGGAGAATGTTG
AGAAAACCCTACTGGCTGGCTTGTTTCTGCCAAAGCTTGGGGAGAGGAGAGGGGGATGAGAAGA
TGTTAGCAGCCTGCTAAACCTCAGACAGATGAGGACTCAGTTCTGTGCTTGCCCCACAAAAACG
GATGCTCACATCATCAGGAAATTGTTCAGCTGGAGGATTTATAACTTCGTTGCTTTGCATGAAG
TTTAAAGTTTTCATGGTTGCCCAGGGCTTGTACCTTAGATTCCTGTAAGGACTTTGCACTGTTT
TTGCTGAGAAAACAACGCTTCAGGACTTAAGGTCTAAGCGTCAGAGAAGTGCCGTATTTTCAAG
GTGGAAAGTCTGTTAAGCTTGCTGTTGTCCAATCATCCGTTTTTAGAGATGGGGAAACTAAAAC
TCAAAAAGATGTGCCTGAGGTCATATGGCATTATCAGAACCAACCTCTGGCCCTCTTGACCTGT
CTAGCATTCTTTCTTTCTGACCTATAGGATGACTCTAATTCAGTCTAAATCGGCTGCCCTCAGA
TTCTTGAGAACTTAAAATTGAGCAGAAATTCCCAAGGCCAACCTAGCTCTCAGGGACCAACCTG
CAGAACTCAAGATTGAGCGAAATGTTTAGGCCAGTTGAGTTTTGCAAAATGAGTGGTAAGGGAA
AACAGATCTAGCCTGTTATTTAAAACCAGGGTTCAAAAGCCCTATTGGGAGAGGTAGTATTGTC
CTAGCATTTAAATTCTCATGAAATGTGCTTGGTCTGTGATCTCTTGGTCAGATATCTGCCTTCC
AGGCGATCCTTTGAGGTTGTGTAATTCAGCTGGCCCTGGCTCCTGGTCCCTGTTACTGAGCTGG
GCAGTCGAACCGAAGGGCAGATGAGCTCAAGATCATGCCTTGGGAAGCATGGTGCTCTAGGGGT
GCCTTTTTATTCCTTTCATTGTATTATAGACTGTTTCCAAGTTTATGGTTAGAAATGGTAAAGT
GGGTCTGGTGTTTTGAGGTAGAACCCAGCCTAGGGCAAGATATGAACTGTTCTTGAGGTAGAAA
TGTCTACAGTCAGTTGTTTCATCTAGCTTGCATCTTAAAACACAAACCCTTCAGTTGCTTTCAC
TTAATGCACACATTTGCCAATGACAGAGGGTTATACAGGATCCTTCTTTTACATTTCTATTGTC
TGCTACGCTCATCAGAGTATATTTTGGGGTACAAGGTTTTGGGGGTTTTTTTTCCCATTTTGTA
ACTGCCTTATTGAAAAGTAAGTGCCCTTCCATTCCAGGCCTCCTCATATTGTACTTGTTTCCTG
CCAAATCTGGGGGATCATTTGTATTTTAACTTCGTAATCTATGGCTCTGTACTGTTGAAAGGCT
CTCAATTCTGTGGGGTCTCCTTAGTATGTATGTGACTTTTCATGTTGCAATATCACACGATGGG
ATGGCCCGACTTTTGCTCTTAATAAATAATCTGAATGAGTAAGAGA

hide sequence

RefSeq Acc Id:

NM_001131063 ⟹ NP_001124535

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	154,445,997 - 154,461,053 (+)	NCBI
GRCh37	5	153,825,517 - 153,840,613 (+)	RGD
Celera	5	149,901,175 - 149,916,278 (+)	RGD
HuRef	5	148,966,241 - 148,981,334 (+)	ENTREZGENE
CHM1_1	5	153,256,318 - 153,273,030 (+)	NCBI
T2T-CHM13v2.0	5	154,979,944 - 154,995,012 (+)	NCBI

Sequence:

show sequence

GTGGTGCGGAGCGTTCGGCGGGCGGCGGCCGGGCGGCCCAGGGGCTGCCGCGGGACTCGGGGCG
CAGCCGAGTGGCTGCAGGGGTGGAGTGGGCCGGACGAGCCGCGGGGCCCGGGTGCCGCGGGTTC
GAGGCCGGGCCCCGCGCGAGGAGGCCGCGCCACCCCGGGGGAGCTGCCCGGCAGCGAGTTTGCC
CCGCTGCCGAAAGAAGGCGGGAGCCGGCAGGGGCCTTCGAAACCCCCTGGCAACCCAGGCCCGG
AGTCCTTGGGGAGCGGCTGTTTCCTGGGACGCCCTCCCGGACACCCCCGCTGCAGGGTTACGGT
TCTGGGCCCCCGGCAGAAGGCTCCTCCGGGTGACCCCCGGCGGGGCCCTGCGAGCCGCGGGAGC
CGACCCCGGGGCCTCGAGCCGGGAGGAAGGGGGCTTCCGGAGGCGGAGGGCCGGGGGCCGAGGG
AGCCGGGCCTCTCGGACGCGGGGCAGGGCAGCGCCCGGGCTGGAGACGGACTCTGGGACCCTCG
GCTGCGGGGGTCTCAGCGACCTGCCCCGCGGCAAGCGCGGCCGCGGAGTGGCCTACCGGGGACC
CTCCCCCAGAGGGACCGGCCCGGGGCGGGGAGATGAACGGCTTCAGCACGGAGGAGGACAGCCG
CGAAGGGCCCCCCGCCGCCCCAGCTGCCGCCGCCCCGGGCTACGGCCAGAGCTGCTGCCTCATC
GAGGACGGCGAGCGCTGCGTCCGGCCCGCGGGCAACGCCTCCTTCAGCAAGAGGGTCCAGAAGA
GCATCTCGCAGAAGAAACTCAAGCTGGACATCGACAAGAGCCTGCAGGTGAACACCCTACGACG
TTATAAACGACACTACAAGTTGCAGACCAGACCAGGCTTCAATAAGGCCCAGTTAGCAGAAACT
GTGAGTCGACACTTCAGGAACATACCTGTGAATGAAAAAGAGACCCTTGCCTACTTCATCTACA
TGGTGAAGAGTAACAAGAGTAGACTGGACCAGAAATCGGAGGGTGGCAAGCAGCTTGAGTGAGG
ATGAAGCACATCTTAAAGGAATGAAGTGTAATGCTTGATGCACAGGTGATATCTACTACATTTA
AGCCCATAAAGACTGTTAAATATTATTGTAAATAAAAAAGTTTGAATGATGAATACTGTAAATC
TTTTTGGTCAGGAGGATTATATTCTCATGATTCAGCATGTGTATAGAAAGACTTTCTTTTACGA
TAACTCTGGACTAAAAAAATCAGGATCATTAAAAGAATTAAAAACTATGTATTTCAGCATTCAA
CAAAGCATTAAATCAATTCTACTGGAAATGTGGGATAAGAAATATTTTGGTAATCACCTTATCC
ACCAGGCTGCCACGTGTGAGCTGTAGCTTGGAATAGCAGCAAGGTGCAATTGGCCATGGAAGTG
CATGAGCAGACCCACATCTGGACTTGCATGCTGCCCGCTGGCGACATAGATATCCCGCCCGCTT
TGTTGCAAGCTTTGTCATTTATCAGCAGATCAGTTTGACACTGGTCCCCCTCACTCACCCTGTG
CCTTGTACACAGTAGGCACTCAATCAGTAGGTATTGGCTAATTGAGCTGTCACTAATAGTGCCA
GCCTTGTAACATCCGCTTCACACCTCTCATGACTGAGACCTCTGCCATTTCTGTTGCTCACCAC
TTAACTGCTAGAATGTGGAGGAAATCCTGATGCACCAACAAGGAAGTTTCTGATCAGATAAGGA
TTTCAGGACAGTTGCATGTGCAAAACTATTCGTTGAGGTTCCAGAAACACTGATATAGAGACCC
TCACAGAAGATACGGTCCCTTATGCACCCCACTATGCTTCACTCTTTGGGGTGCAGTTAGATAT
TATGACTTCAGCCAAGCTTCTTGGTAATAAATGCATTGACACACTGACATATTTAGTAGGTTGG
GGCAAGTATTTTTAGAAGTTTTCATCCTAAGTTCACAACCACCATGCAAGCTGCCAGGGGCCAT
GTGATTCCTGCCCAGAAGTTCAGCTTAGGATTGAAAGTCTGGCTGGCCTTGACTCCCTGGGCTC
TGGTCATCAGCAAATCATGAGTTTGGGCAACAAAGGTCAATTCCATCTGATGCTCATTTTTGTG
AACAATTTGCCTCCCTCTTAGGGAGAAAGATTGCTAAAATAATTTTTGAAAATTACCTAATTTT
TTTGTTGTTCAAAACGTTGAACTCCTCAATCTAATTATATCAGAGCCAAAGTATCCTGTGAAAA
CAAAGCTTTATATCCAAAAATGTGCTTTTGCAAAATTCTTTAATCTGTGTAATGGAGGGCAGAG
GGTATGGGGTAGGAGGGTGGGAGAAAGAAAAGAAAAGAATTTGGATTCTAATTTATGACCATCT
TGACATATGGTCAAAGGTGTCATTTTCCTACTCAGTTTCAATTCTGAGTTAATTTCTTAAGCCT
TAAATAATAAGAACAATGGACAGCCTGGCCTGGCAGAGAGTTTCACAGATGACTTAATCTGAGC
ACCATCACAGAGAAGTCAGGACTAAACCCCCTACTGAGCAGGGCGGCGGAGTGTCCAAAGGTCT
CAGTTCTGTGGAGCAGAGTACCACGCTTTCTGTGGAATGGGGACAGGGTCACCACGCTCACTAA
AATGCAGTATGTTCCATTGCAGCAAAGCTTTCGCCTGTGTTCAAAATGCATGTCTAGCAGATTG
CAGCCTTTTAAATTAAATATATATAAATGGTTGTATATAGAATATACTCTGGACTGTGAGGGCA
TCCTATTTTGGTATGCCTCCTGGCTGTGGATGGCATGTCCAGTGCTCTGTGAGTGTTTTCAGTC
ATTCACATTCACTATGTGTTTAGAGATTCTCTCCCTGCTTACAGCTGAAGGATGTTGATACAGG
CATCAAGAAGGCTGAGGGGCAGATGGGGCCTGCAGGTTAAGGCATTGTTAACTTGCTCCATGGA
AATGTCCATATCTTAATGAGTAAAAAAGTGTATTTTTCTGATACGTAAACCAGAATTGTGGGCG
TGTAGGTCACATCACTATTTCTTTAGCAGCAAATCTGTTTTCCCAGTTGAGAGAGACAATAGCT
TCTGCACAAGAATATATGATGGTAGGATCCATCTGTTCAATTGTGTCTGAAAGAATCTTTATTC
CAAAGCGAAACCTGGGGAAATGTTTTACCTTCAGCCAGATGCTGTGTGTGTACTTGGGTCCCTT
GTCTTTCCTCTAAGGAGAGGTGCTTGTGGAAAGTGGAGGTTGTGGGCATCTTTTCAACCTTTTC
AATCTGACCTTTCAACAGGTCAGGTGAGAGAAAAGACAAAGCTATTTGAACCTATGTTTTTCTT
ATGTCCAGAAATCTGTTCTTTCATCAAACCACTAAACCACTCGCCTTAGCCTCTTCTGCAGTTT
CTGGTGGCTCTATCTGTGGGCAAGGGACTCCTGCCTGTGAGAAGTGGCCAGGCCCTCCAGAGCA
ACGGGGTCTGGCTTCAGGGAGCAGTGGGGTGTGGGGAAAGCAATGTTCATCTTGGCTGCTCCAT
TTTTATACCATCCATCAAGGACTCTTGCGCTTCTCTCCACCTGTGACGTAGCAGCATTGCCTTC
TTTCCTCTTGGTGCTTCTGGGCAAAACTGGAATTTGAAATCCAGAACTGGCGTTGTCTTCTTAA
AGAGTATGGTTCCTGCCTCAGTTCCAGCCTGGTATGGTTCTTTGATATGCCCTGAAGGTTCTCA
CATGGAAACATCAGTATCCTGCCATTCATGTTGTTTTAAGATGTTTTAAAAACCAATGGACAAA
CTTCTTGCTTCAAGGAACAAACTCTTAGGTTGGCAACAGCATATAAAAAAAAAGATCACAGCTG
AATCTCATGAAAGATTAAAAACCAAAGGATTCAAGACCGGTGTTGTAAAATGAAGAGGAATTTT
ACTTACATGTTACAGCTGCCAAGTTTTTAGATGTTCCTGTCATAGCTAAATAGTCACTGCTAGC
CTTTCAGAGAACAGATAGTAACAATTGTTTGCAGCTGCAGTGTTGCATCTAATTTTGGTGTTTA
GGCTTTTTATTTTGTGGGAAGCTTTTTGTTAATATCCTGCAGGGCAACTGCCTGTTGGGAGGGA
GAGGATGGAAGAAGGAGCTTACTCTGGGGGCCTTGCCTATTGAGGGAGGCTGTTGCCCAGAGCA
GTTGCTTCATGGAAGTCATCCAAAGGCGCTCTCAGTCATTACAATGACAGGATCTCAAAGTTGG
GAAAGGGCTGTTAAGTCATCCAGTCTAGTCTCCACATAGGTGCTGACATTCTGCCTACAACCAT
CCCACCAAGGGGTTGAGCAGTCTGGACTTAAACACCTCCGAGGACAGAGAACCCACTACCTCGT
GGAGAAGCCTGTTCTTTGTAAACCTCTGGCTTTTCTATGTTCTCTGTAATTTCCATCTTAGTCT
CTGCCCCATGGGGGCCACATGGGACAAGTTATTTTTGGCAAAGCACCTAATTGCTGGCACTGTC
CCAAAGCATAGCGTTTGCCTTTTGGAAAGAAACAATGCTAGGACATGGACACTTTGGTACACTG
TCCTTACCCCTGAGTATTAGTCCACTCAGTTCCTTGTTGGAGAATGTTGAGAAAACCCTACTGG
CTGGCTTGTTTCTGCCAAAGCTTGGGGAGAGGAGAGGGGGATGAGAAGATGTTAGCAGCCTGCT
AAACCTCAGACAGATGAGGACTCAGTTCTGTGCTTGCCCCACAAAAACGGATGCTCACATCATC
AGGAAATTGTTCAGCTGGAGGATTTATAACTTCGTTGCTTTGCATGAAGTTTAAAGTTTTCATG
GTTGCCCAGGGCTTGTACCTTAGATTCCTGTAAGGACTTTGCACTGTTTTTGCTGAGAAAACAA
CGCTTCAGGACTTAAGGTCTAAGCGTCAGAGAAGTGCCGTATTTTCAAGGTGGAAAGTCTGTTA
AGCTTGCTGTTGTCCAATCATCCGTTTTTAGAGATGGGGAAACTAAAACTCAAAAAGATGTGCC
TGAGGTCATATGGCATTATCAGAACCAACCTCTGGCCCTCTTGACCTGTCTAGCATTCTTTCTT
TCTGACCTATAGGATGACTCTAATTCAGTCTAAATCGGCTGCCCTCAGATTCTTGAGAACTTAA
AATTGAGCAGAAATTCCCAAGGCCAACCTAGCTCTCAGGGACCAACCTGCAGAACTCAAGATTG
AGCGAAATGTTTAGGCCAGTTGAGTTTTGCAAAATGAGTGGTAAGGGAAAACAGATCTAGCCTG
TTATTTAAAACCAGGGTTCAAAAGCCCTATTGGGAGAGGTAGTATTGTCCTAGCATTTAAATTC
TCATGAAATGTGCTTGGTCTGTGATCTCTTGGTCAGATATCTGCCTTCCAGGCGATCCTTTGAG
GTTGTGTAATTCAGCTGGCCCTGGCTCCTGGTCCCTGTTACTGAGCTGGGCAGTCGAACCGAAG
GGCAGATGAGCTCAAGATCATGCCTTGGGAAGCATGGTGCTCTAGGGGTGCCTTTTTATTCCTT
TCATTGTATTATAGACTGTTTCCAAGTTTATGGTTAGAAATGGTAAAGTGGGTCTGGTGTTTTG
AGGTAGAACCCAGCCTAGGGCAAGATATGAACTGTTCTTGAGGTAGAAATGTCTACAGTCAGTT
GTTTCATCTAGCTTGCATCTTAAAACACAAACCCTTCAGTTGCTTTCACTTAATGCACACATTT
GCCAATGACAGAGGGTTATACAGGATCCTTCTTTTACATTTCTATTGTCTGCTACGCTCATCAG
AGTATATTTTGGGGTACAAGGTTTTGGGGGTTTTTTTTCCCATTTTGTAACTGCCTTATTGAAA
AGTAAGTGCCCTTCCATTCCAGGCCTCCTCATATTGTACTTGTTTCCTGCCAAATCTGGGGGAT
CATTTGTATTTTAACTTCGTAATCTATGGCTCTGTACTGTTGAAAGGCTCTCAATTCTGTGGGG
TCTCCTTAGTATGTATGTGACTTTTCATGTTGCAATATCACACGATGGGATGGCCCGACTTTTG
CTCTTAATAAATAATCTGAATGAGTAAGAGA

hide sequence

RefSeq Acc Id:

NM_024632 ⟹ NP_078908

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	154,445,997 - 154,461,053 (+)	NCBI
GRCh37	5	153,825,517 - 153,840,613 (+)	RGD
Build 36	5	153,805,776 - 153,816,067 (+)	NCBI Archive
Celera	5	149,901,175 - 149,916,278 (+)	RGD
HuRef	5	148,966,241 - 148,981,334 (+)	ENTREZGENE
CHM1_1	5	153,256,318 - 153,273,030 (+)	NCBI
T2T-CHM13v2.0	5	154,979,944 - 154,995,012 (+)	NCBI

Sequence:

show sequence

GTGGTGCGGAGCGTTCGGCGGGCGGCGGCCGGGCGGCCCAGGGGCTGCCGCGGGACTCGGGGCG
CAGCCGAGTGGCTGCAGGGGTGGAGTGGGCCGGACGAGCCGCGGGGCCCGGGTGCCGCGGGTTC
GAGGCCGGGCCCCGCGCGAGGAGGCCGCGCCACCCCGGGGGAGCTGCCCGGCAGCGAGTTTGCC
CCGCTGCCGAAAGAAGGCGGGAGCCGGCAGGGGCCTTCGAAACCCCCTGGCAACCCAGGCCCGG
AGTCCTTGGGGAGCGGCTGTTTCCTGGGACGCCCTCCCGGACACCCCCGCTGCAGGGTTACGGT
TCTGGGCCCCCGGCAGAAGGCTCCTCCGGGTGACCCCCGGCGGGGCCCTGCGAGCCGCGGGAGC
CGACCCCGGGGCCTCGAGCCGGGAGGAAGGGGGCTTCCGGAGGCGGAGGGCCGGGGGCCGAGGG
AGCCGGGCCTCTCGGACGCGGGGCAGGGCAGCGCCCGGGCTGGAGACGGACTCTGGGACCCTCG
GCTGCGGGGGTCTCAGCGACCTGCCCCGCGGCAAGCGCGGCCGCGGAGTGGCCTACCGGGGACC
CTCCCCCAGAGGGACCGGCCCGGGGCGGGGAGATGAACGGCTTCAGCACGGAGGAGGACAGCCG
CGAAGGGCCCCCCGCCGCCCCAGCTGCCGCCGCCCCGGGCTACGGCCAGAGCTGCTGCCTCATC
GAGGACGGCGAGCGCTGCGTCCGGCCCGCGGGCAACGCCTCCTTCAGCAAGAGGGTCCAGAAGA
GCATCTCGCAGAAGAAACTCAAGCTGGACATCGACAAGAGCGTAAGGCACCTATATATCTGTGA
TTTTCACAAAAATTTCATCCAGAGTGTCCGAAATAAAAGGAAGAGGAAGACAAGTGACGATGGC
GGAGATTCTCCCGAGCACGACACTGACATTCCTGAGGTTGATCTGTTCCAGCTGCAGGTGAACA
CCCTACGACGTTATAAACGACACTACAAGTTGCAGACCAGACCAGGCTTCAATAAGGCCCAGTT
AGCAGAAACTGTGAGTCGACACTTCAGGAACATACCTGTGAATGAAAAAGAGACCCTTGCCTAC
TTCATCTACATGGTGAAGAGTAACAAGAGTAGACTGGACCAGAAATCGGAGGGTGGCAAGCAGC
TTGAGTGAGGATGAAGCACATCTTAAAGGAATGAAGTGTAATGCTTGATGCACAGGTGATATCT
ACTACATTTAAGCCCATAAAGACTGTTAAATATTATTGTAAATAAAAAAGTTTGAATGATGAAT
ACTGTAAATCTTTTTGGTCAGGAGGATTATATTCTCATGATTCAGCATGTGTATAGAAAGACTT
TCTTTTACGATAACTCTGGACTAAAAAAATCAGGATCATTAAAAGAATTAAAAACTATGTATTT
CAGCATTCAACAAAGCATTAAATCAATTCTACTGGAAATGTGGGATAAGAAATATTTTGGTAAT
CACCTTATCCACCAGGCTGCCACGTGTGAGCTGTAGCTTGGAATAGCAGCAAGGTGCAATTGGC
CATGGAAGTGCATGAGCAGACCCACATCTGGACTTGCATGCTGCCCGCTGGCGACATAGATATC
CCGCCCGCTTTGTTGCAAGCTTTGTCATTTATCAGCAGATCAGTTTGACACTGGTCCCCCTCAC
TCACCCTGTGCCTTGTACACAGTAGGCACTCAATCAGTAGGTATTGGCTAATTGAGCTGTCACT
AATAGTGCCAGCCTTGTAACATCCGCTTCACACCTCTCATGACTGAGACCTCTGCCATTTCTGT
TGCTCACCACTTAACTGCTAGAATGTGGAGGAAATCCTGATGCACCAACAAGGAAGTTTCTGAT
CAGATAAGGATTTCAGGACAGTTGCATGTGCAAAACTATTCGTTGAGGTTCCAGAAACACTGAT
ATAGAGACCCTCACAGAAGATACGGTCCCTTATGCACCCCACTATGCTTCACTCTTTGGGGTGC
AGTTAGATATTATGACTTCAGCCAAGCTTCTTGGTAATAAATGCATTGACACACTGACATATTT
AGTAGGTTGGGGCAAGTATTTTTAGAAGTTTTCATCCTAAGTTCACAACCACCATGCAAGCTGC
CAGGGGCCATGTGATTCCTGCCCAGAAGTTCAGCTTAGGATTGAAAGTCTGGCTGGCCTTGACT
CCCTGGGCTCTGGTCATCAGCAAATCATGAGTTTGGGCAACAAAGGTCAATTCCATCTGATGCT
CATTTTTGTGAACAATTTGCCTCCCTCTTAGGGAGAAAGATTGCTAAAATAATTTTTGAAAATT
ACCTAATTTTTTTGTTGTTCAAAACGTTGAACTCCTCAATCTAATTATATCAGAGCCAAAGTAT
CCTGTGAAAACAAAGCTTTATATCCAAAAATGTGCTTTTGCAAAATTCTTTAATCTGTGTAATG
GAGGGCAGAGGGTATGGGGTAGGAGGGTGGGAGAAAGAAAAGAAAAGAATTTGGATTCTAATTT
ATGACCATCTTGACATATGGTCAAAGGTGTCATTTTCCTACTCAGTTTCAATTCTGAGTTAATT
TCTTAAGCCTTAAATAATAAGAACAATGGACAGCCTGGCCTGGCAGAGAGTTTCACAGATGACT
TAATCTGAGCACCATCACAGAGAAGTCAGGACTAAACCCCCTACTGAGCAGGGCGGCGGAGTGT
CCAAAGGTCTCAGTTCTGTGGAGCAGAGTACCACGCTTTCTGTGGAATGGGGACAGGGTCACCA
CGCTCACTAAAATGCAGTATGTTCCATTGCAGCAAAGCTTTCGCCTGTGTTCAAAATGCATGTC
TAGCAGATTGCAGCCTTTTAAATTAAATATATATAAATGGTTGTATATAGAATATACTCTGGAC
TGTGAGGGCATCCTATTTTGGTATGCCTCCTGGCTGTGGATGGCATGTCCAGTGCTCTGTGAGT
GTTTTCAGTCATTCACATTCACTATGTGTTTAGAGATTCTCTCCCTGCTTACAGCTGAAGGATG
TTGATACAGGCATCAAGAAGGCTGAGGGGCAGATGGGGCCTGCAGGTTAAGGCATTGTTAACTT
GCTCCATGGAAATGTCCATATCTTAATGAGTAAAAAAGTGTATTTTTCTGATACGTAAACCAGA
ATTGTGGGCGTGTAGGTCACATCACTATTTCTTTAGCAGCAAATCTGTTTTCCCAGTTGAGAGA
GACAATAGCTTCTGCACAAGAATATATGATGGTAGGATCCATCTGTTCAATTGTGTCTGAAAGA
ATCTTTATTCCAAAGCGAAACCTGGGGAAATGTTTTACCTTCAGCCAGATGCTGTGTGTGTACT
TGGGTCCCTTGTCTTTCCTCTAAGGAGAGGTGCTTGTGGAAAGTGGAGGTTGTGGGCATCTTTT
CAACCTTTTCAATCTGACCTTTCAACAGGTCAGGTGAGAGAAAAGACAAAGCTATTTGAACCTA
TGTTTTTCTTATGTCCAGAAATCTGTTCTTTCATCAAACCACTAAACCACTCGCCTTAGCCTCT
TCTGCAGTTTCTGGTGGCTCTATCTGTGGGCAAGGGACTCCTGCCTGTGAGAAGTGGCCAGGCC
CTCCAGAGCAACGGGGTCTGGCTTCAGGGAGCAGTGGGGTGTGGGGAAAGCAATGTTCATCTTG
GCTGCTCCATTTTTATACCATCCATCAAGGACTCTTGCGCTTCTCTCCACCTGTGACGTAGCAG
CATTGCCTTCTTTCCTCTTGGTGCTTCTGGGCAAAACTGGAATTTGAAATCCAGAACTGGCGTT
GTCTTCTTAAAGAGTATGGTTCCTGCCTCAGTTCCAGCCTGGTATGGTTCTTTGATATGCCCTG
AAGGTTCTCACATGGAAACATCAGTATCCTGCCATTCATGTTGTTTTAAGATGTTTTAAAAACC
AATGGACAAACTTCTTGCTTCAAGGAACAAACTCTTAGGTTGGCAACAGCATATAAAAAAAAAG
ATCACAGCTGAATCTCATGAAAGATTAAAAACCAAAGGATTCAAGACCGGTGTTGTAAAATGAA
GAGGAATTTTACTTACATGTTACAGCTGCCAAGTTTTTAGATGTTCCTGTCATAGCTAAATAGT
CACTGCTAGCCTTTCAGAGAACAGATAGTAACAATTGTTTGCAGCTGCAGTGTTGCATCTAATT
TTGGTGTTTAGGCTTTTTATTTTGTGGGAAGCTTTTTGTTAATATCCTGCAGGGCAACTGCCTG
TTGGGAGGGAGAGGATGGAAGAAGGAGCTTACTCTGGGGGCCTTGCCTATTGAGGGAGGCTGTT
GCCCAGAGCAGTTGCTTCATGGAAGTCATCCAAAGGCGCTCTCAGTCATTACAATGACAGGATC
TCAAAGTTGGGAAAGGGCTGTTAAGTCATCCAGTCTAGTCTCCACATAGGTGCTGACATTCTGC
CTACAACCATCCCACCAAGGGGTTGAGCAGTCTGGACTTAAACACCTCCGAGGACAGAGAACCC
ACTACCTCGTGGAGAAGCCTGTTCTTTGTAAACCTCTGGCTTTTCTATGTTCTCTGTAATTTCC
ATCTTAGTCTCTGCCCCATGGGGGCCACATGGGACAAGTTATTTTTGGCAAAGCACCTAATTGC
TGGCACTGTCCCAAAGCATAGCGTTTGCCTTTTGGAAAGAAACAATGCTAGGACATGGACACTT
TGGTACACTGTCCTTACCCCTGAGTATTAGTCCACTCAGTTCCTTGTTGGAGAATGTTGAGAAA
ACCCTACTGGCTGGCTTGTTTCTGCCAAAGCTTGGGGAGAGGAGAGGGGGATGAGAAGATGTTA
GCAGCCTGCTAAACCTCAGACAGATGAGGACTCAGTTCTGTGCTTGCCCCACAAAAACGGATGC
TCACATCATCAGGAAATTGTTCAGCTGGAGGATTTATAACTTCGTTGCTTTGCATGAAGTTTAA
AGTTTTCATGGTTGCCCAGGGCTTGTACCTTAGATTCCTGTAAGGACTTTGCACTGTTTTTGCT
GAGAAAACAACGCTTCAGGACTTAAGGTCTAAGCGTCAGAGAAGTGCCGTATTTTCAAGGTGGA
AAGTCTGTTAAGCTTGCTGTTGTCCAATCATCCGTTTTTAGAGATGGGGAAACTAAAACTCAAA
AAGATGTGCCTGAGGTCATATGGCATTATCAGAACCAACCTCTGGCCCTCTTGACCTGTCTAGC
ATTCTTTCTTTCTGACCTATAGGATGACTCTAATTCAGTCTAAATCGGCTGCCCTCAGATTCTT
GAGAACTTAAAATTGAGCAGAAATTCCCAAGGCCAACCTAGCTCTCAGGGACCAACCTGCAGAA
CTCAAGATTGAGCGAAATGTTTAGGCCAGTTGAGTTTTGCAAAATGAGTGGTAAGGGAAAACAG
ATCTAGCCTGTTATTTAAAACCAGGGTTCAAAAGCCCTATTGGGAGAGGTAGTATTGTCCTAGC
ATTTAAATTCTCATGAAATGTGCTTGGTCTGTGATCTCTTGGTCAGATATCTGCCTTCCAGGCG
ATCCTTTGAGGTTGTGTAATTCAGCTGGCCCTGGCTCCTGGTCCCTGTTACTGAGCTGGGCAGT
CGAACCGAAGGGCAGATGAGCTCAAGATCATGCCTTGGGAAGCATGGTGCTCTAGGGGTGCCTT
TTTATTCCTTTCATTGTATTATAGACTGTTTCCAAGTTTATGGTTAGAAATGGTAAAGTGGGTC
TGGTGTTTTGAGGTAGAACCCAGCCTAGGGCAAGATATGAACTGTTCTTGAGGTAGAAATGTCT
ACAGTCAGTTGTTTCATCTAGCTTGCATCTTAAAACACAAACCCTTCAGTTGCTTTCACTTAAT
GCACACATTTGCCAATGACAGAGGGTTATACAGGATCCTTCTTTTACATTTCTATTGTCTGCTA
CGCTCATCAGAGTATATTTTGGGGTACAAGGTTTTGGGGGTTTTTTTTCCCATTTTGTAACTGC
CTTATTGAAAAGTAAGTGCCCTTCCATTCCAGGCCTCCTCATATTGTACTTGTTTCCTGCCAAA
TCTGGGGGATCATTTGTATTTTAACTTCGTAATCTATGGCTCTGTACTGTTGAAAGGCTCTCAA
TTCTGTGGGGTCTCCTTAGTATGTATGTGACTTTTCATGTTGCAATATCACACGATGGGATGGC
CCGACTTTTGCTCTTAATAAATAATCTGAATGAGTAAGAGA

hide sequence

RefSeq Acc Id:

NR_024084

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	154,445,997 - 154,461,053 (+)	NCBI
GRCh37	5	153,825,517 - 153,840,613 (+)	RGD
Celera	5	149,901,175 - 149,916,278 (+)	RGD
HuRef	5	148,966,241 - 148,981,334 (+)	ENTREZGENE
CHM1_1	5	153,256,318 - 153,273,030 (+)	NCBI
T2T-CHM13v2.0	5	154,979,944 - 154,995,012 (+)	NCBI

Sequence:

show sequence

GTGGTGCGGAGCGTTCGGCGGGCGGCGGCCGGGCGGCCCAGGGGCTGCCGCGGGACTCGGGGCG
CAGCCGAGTGGCTGCAGGGGTGGAGTGGGCCGGACGAGCCGCGGGGCCCGGGTGCCGCGGGTTC
GAGGCCGGGCCCCGCGCGAGGAGGCCGCGCCACCCCGGGGGAGCTGCCCGGCAGCGAGTTTGCC
CCGCTGCCGAAAGAAGGCGGGAGCCGGCAGGGGCCTTCGAAACCCCCTGGCAACCCAGGCCCGG
AGTCCTTGGGGAGCGGCTGTTTCCTGGGACGCCCTCCCGGACACCCCCGCTGCAGGGTTACGGT
TCTGGGCCCCCGGCAGAAGGCTCCTCCGGGTGACCCCCGGCGGGGCCCTGCGAGCCGCGGGAGC
CGACCCCGGGGCCTCGAGCCGGGAGGAAGGGGGCTTCCGGAGGCGGAGGGCCGGGGGCCGAGGG
AGCCGGGCCTCTCGGACGCGGGGCAGGGCAGCGCCCGGGCTGGAGACGGACTCTGGGACCCTCG
GCTGCGGGGGTCTCAGCGACCTGCCCCGCGGCAAGCGCGGCCGCGGAGTGGCCTACCGGGGACC
CTCCCCCAGAGGGACCGGCCCGGGGCGGGGAGATGAACGGCTTCAGCACGGAGGAGGACAGCCG
CGAAGGGCCCCCCGCCGCCCCAGCTGCCGCCGCCCCGGGCTACGGCCAGAGCTGCTGCCTCATC
GAGGACGGCGAGCGCTGCGTCCGGCCCGCGGGCAACGCCTCCTTCAGCAAGAGGGTCCAGAAGA
GCATCTCGCAGAAGAAACTCAAGCTGGACATCGACAAGAGCGTAAGGCACCTATATATCTGTGA
TTTTCACAAAAATTTCATCCAGAGTGTCCGAAATAAAAGGAAGAGGAAGACAAGTGACGATGGC
GGAGATTCTCCCGAGCACGACACTGACATTCCTGAGTGCTCTCCACCTGCCTGAAGCAAGAACA
GCTCTTTTAGAGGCAGGTTGATCTGTTCCAGCTGCAGGTGAACACCCTACGACGTTATAAACGA
CACTACAAGTTGCAGACCAGACCAGGCTTCAATAAGGCCCAGTTAGCAGAAACTGTGAGTCGAC
ACTTCAGGAACATACCTGTGAATGAAAAAGAGACCCTTGCCTACTTCATCTACATGGTGAAGAG
TAACAAGAGTAGACTGGACCAGAAATCGGAGGGTGGCAAGCAGCTTGAGTGAGGATGAAGCACA
TCTTAAAGGAATGAAGTGTAATGCTTGATGCACAGGTGATATCTACTACATTTAAGCCCATAAA
GACTGTTAAATATTATTGTAAATAAAAAAGTTTGAATGATGAATACTGTAAATCTTTTTGGTCA
GGAGGATTATATTCTCATGATTCAGCATGTGTATAGAAAGACTTTCTTTTACGATAACTCTGGA
CTAAAAAAATCAGGATCATTAAAAGAATTAAAAACTATGTATTTCAGCATTCAACAAAGCATTA
AATCAATTCTACTGGAAATGTGGGATAAGAAATATTTTGGTAATCACCTTATCCACCAGGCTGC
CACGTGTGAGCTGTAGCTTGGAATAGCAGCAAGGTGCAATTGGCCATGGAAGTGCATGAGCAGA
CCCACATCTGGACTTGCATGCTGCCCGCTGGCGACATAGATATCCCGCCCGCTTTGTTGCAAGC
TTTGTCATTTATCAGCAGATCAGTTTGACACTGGTCCCCCTCACTCACCCTGTGCCTTGTACAC
AGTAGGCACTCAATCAGTAGGTATTGGCTAATTGAGCTGTCACTAATAGTGCCAGCCTTGTAAC
ATCCGCTTCACACCTCTCATGACTGAGACCTCTGCCATTTCTGTTGCTCACCACTTAACTGCTA
GAATGTGGAGGAAATCCTGATGCACCAACAAGGAAGTTTCTGATCAGATAAGGATTTCAGGACA
GTTGCATGTGCAAAACTATTCGTTGAGGTTCCAGAAACACTGATATAGAGACCCTCACAGAAGA
TACGGTCCCTTATGCACCCCACTATGCTTCACTCTTTGGGGTGCAGTTAGATATTATGACTTCA
GCCAAGCTTCTTGGTAATAAATGCATTGACACACTGACATATTTAGTAGGTTGGGGCAAGTATT
TTTAGAAGTTTTCATCCTAAGTTCACAACCACCATGCAAGCTGCCAGGGGCCATGTGATTCCTG
CCCAGAAGTTCAGCTTAGGATTGAAAGTCTGGCTGGCCTTGACTCCCTGGGCTCTGGTCATCAG
CAAATCATGAGTTTGGGCAACAAAGGTCAATTCCATCTGATGCTCATTTTTGTGAACAATTTGC
CTCCCTCTTAGGGAGAAAGATTGCTAAAATAATTTTTGAAAATTACCTAATTTTTTTGTTGTTC
AAAACGTTGAACTCCTCAATCTAATTATATCAGAGCCAAAGTATCCTGTGAAAACAAAGCTTTA
TATCCAAAAATGTGCTTTTGCAAAATTCTTTAATCTGTGTAATGGAGGGCAGAGGGTATGGGGT
AGGAGGGTGGGAGAAAGAAAAGAAAAGAATTTGGATTCTAATTTATGACCATCTTGACATATGG
TCAAAGGTGTCATTTTCCTACTCAGTTTCAATTCTGAGTTAATTTCTTAAGCCTTAAATAATAA
GAACAATGGACAGCCTGGCCTGGCAGAGAGTTTCACAGATGACTTAATCTGAGCACCATCACAG
AGAAGTCAGGACTAAACCCCCTACTGAGCAGGGCGGCGGAGTGTCCAAAGGTCTCAGTTCTGTG
GAGCAGAGTACCACGCTTTCTGTGGAATGGGGACAGGGTCACCACGCTCACTAAAATGCAGTAT
GTTCCATTGCAGCAAAGCTTTCGCCTGTGTTCAAAATGCATGTCTAGCAGATTGCAGCCTTTTA
AATTAAATATATATAAATGGTTGTATATAGAATATACTCTGGACTGTGAGGGCATCCTATTTTG
GTATGCCTCCTGGCTGTGGATGGCATGTCCAGTGCTCTGTGAGTGTTTTCAGTCATTCACATTC
ACTATGTGTTTAGAGATTCTCTCCCTGCTTACAGCTGAAGGATGTTGATACAGGCATCAAGAAG
GCTGAGGGGCAGATGGGGCCTGCAGGTTAAGGCATTGTTAACTTGCTCCATGGAAATGTCCATA
TCTTAATGAGTAAAAAAGTGTATTTTTCTGATACGTAAACCAGAATTGTGGGCGTGTAGGTCAC
ATCACTATTTCTTTAGCAGCAAATCTGTTTTCCCAGTTGAGAGAGACAATAGCTTCTGCACAAG
AATATATGATGGTAGGATCCATCTGTTCAATTGTGTCTGAAAGAATCTTTATTCCAAAGCGAAA
CCTGGGGAAATGTTTTACCTTCAGCCAGATGCTGTGTGTGTACTTGGGTCCCTTGTCTTTCCTC
TAAGGAGAGGTGCTTGTGGAAAGTGGAGGTTGTGGGCATCTTTTCAACCTTTTCAATCTGACCT
TTCAACAGGTCAGGTGAGAGAAAAGACAAAGCTATTTGAACCTATGTTTTTCTTATGTCCAGAA
ATCTGTTCTTTCATCAAACCACTAAACCACTCGCCTTAGCCTCTTCTGCAGTTTCTGGTGGCTC
TATCTGTGGGCAAGGGACTCCTGCCTGTGAGAAGTGGCCAGGCCCTCCAGAGCAACGGGGTCTG
GCTTCAGGGAGCAGTGGGGTGTGGGGAAAGCAATGTTCATCTTGGCTGCTCCATTTTTATACCA
TCCATCAAGGACTCTTGCGCTTCTCTCCACCTGTGACGTAGCAGCATTGCCTTCTTTCCTCTTG
GTGCTTCTGGGCAAAACTGGAATTTGAAATCCAGAACTGGCGTTGTCTTCTTAAAGAGTATGGT
TCCTGCCTCAGTTCCAGCCTGGTATGGTTCTTTGATATGCCCTGAAGGTTCTCACATGGAAACA
TCAGTATCCTGCCATTCATGTTGTTTTAAGATGTTTTAAAAACCAATGGACAAACTTCTTGCTT
CAAGGAACAAACTCTTAGGTTGGCAACAGCATATAAAAAAAAAGATCACAGCTGAATCTCATGA
AAGATTAAAAACCAAAGGATTCAAGACCGGTGTTGTAAAATGAAGAGGAATTTTACTTACATGT
TACAGCTGCCAAGTTTTTAGATGTTCCTGTCATAGCTAAATAGTCACTGCTAGCCTTTCAGAGA
ACAGATAGTAACAATTGTTTGCAGCTGCAGTGTTGCATCTAATTTTGGTGTTTAGGCTTTTTAT
TTTGTGGGAAGCTTTTTGTTAATATCCTGCAGGGCAACTGCCTGTTGGGAGGGAGAGGATGGAA
GAAGGAGCTTACTCTGGGGGCCTTGCCTATTGAGGGAGGCTGTTGCCCAGAGCAGTTGCTTCAT
GGAAGTCATCCAAAGGCGCTCTCAGTCATTACAATGACAGGATCTCAAAGTTGGGAAAGGGCTG
TTAAGTCATCCAGTCTAGTCTCCACATAGGTGCTGACATTCTGCCTACAACCATCCCACCAAGG
GGTTGAGCAGTCTGGACTTAAACACCTCCGAGGACAGAGAACCCACTACCTCGTGGAGAAGCCT
GTTCTTTGTAAACCTCTGGCTTTTCTATGTTCTCTGTAATTTCCATCTTAGTCTCTGCCCCATG
GGGGCCACATGGGACAAGTTATTTTTGGCAAAGCACCTAATTGCTGGCACTGTCCCAAAGCATA
GCGTTTGCCTTTTGGAAAGAAACAATGCTAGGACATGGACACTTTGGTACACTGTCCTTACCCC
TGAGTATTAGTCCACTCAGTTCCTTGTTGGAGAATGTTGAGAAAACCCTACTGGCTGGCTTGTT
TCTGCCAAAGCTTGGGGAGAGGAGAGGGGGATGAGAAGATGTTAGCAGCCTGCTAAACCTCAGA
CAGATGAGGACTCAGTTCTGTGCTTGCCCCACAAAAACGGATGCTCACATCATCAGGAAATTGT
TCAGCTGGAGGATTTATAACTTCGTTGCTTTGCATGAAGTTTAAAGTTTTCATGGTTGCCCAGG
GCTTGTACCTTAGATTCCTGTAAGGACTTTGCACTGTTTTTGCTGAGAAAACAACGCTTCAGGA
CTTAAGGTCTAAGCGTCAGAGAAGTGCCGTATTTTCAAGGTGGAAAGTCTGTTAAGCTTGCTGT
TGTCCAATCATCCGTTTTTAGAGATGGGGAAACTAAAACTCAAAAAGATGTGCCTGAGGTCATA
TGGCATTATCAGAACCAACCTCTGGCCCTCTTGACCTGTCTAGCATTCTTTCTTTCTGACCTAT
AGGATGACTCTAATTCAGTCTAAATCGGCTGCCCTCAGATTCTTGAGAACTTAAAATTGAGCAG
AAATTCCCAAGGCCAACCTAGCTCTCAGGGACCAACCTGCAGAACTCAAGATTGAGCGAAATGT
TTAGGCCAGTTGAGTTTTGCAAAATGAGTGGTAAGGGAAAACAGATCTAGCCTGTTATTTAAAA
CCAGGGTTCAAAAGCCCTATTGGGAGAGGTAGTATTGTCCTAGCATTTAAATTCTCATGAAATG
TGCTTGGTCTGTGATCTCTTGGTCAGATATCTGCCTTCCAGGCGATCCTTTGAGGTTGTGTAAT
TCAGCTGGCCCTGGCTCCTGGTCCCTGTTACTGAGCTGGGCAGTCGAACCGAAGGGCAGATGAG
CTCAAGATCATGCCTTGGGAAGCATGGTGCTCTAGGGGTGCCTTTTTATTCCTTTCATTGTATT
ATAGACTGTTTCCAAGTTTATGGTTAGAAATGGTAAAGTGGGTCTGGTGTTTTGAGGTAGAACC
CAGCCTAGGGCAAGATATGAACTGTTCTTGAGGTAGAAATGTCTACAGTCAGTTGTTTCATCTA
GCTTGCATCTTAAAACACAAACCCTTCAGTTGCTTTCACTTAATGCACACATTTGCCAATGACA
GAGGGTTATACAGGATCCTTCTTTTACATTTCTATTGTCTGCTACGCTCATCAGAGTATATTTT
GGGGTACAAGGTTTTGGGGGTTTTTTTTCCCATTTTGTAACTGCCTTATTGAAAAGTAAGTGCC
CTTCCATTCCAGGCCTCCTCATATTGTACTTGTTTCCTGCCAAATCTGGGGGATCATTTGTATT
TTAACTTCGTAATCTATGGCTCTGTACTGTTGAAAGGCTCTCAATTCTGTGGGGTCTCCTTAGT
ATGTATGTGACTTTTCATGTTGCAATATCACACGATGGGATGGCCCGACTTTTGCTCTTAATAA
ATAATCTGAATGAGTAAGAGA

hide sequence

RefSeq Acc Id:

XM_047417709 ⟹ XP_047273665

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	154,445,997 - 154,453,454 (+)	NCBI

RefSeq Acc Id:

XM_054353458 ⟹ XP_054209433

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	5	154,979,944 - 154,987,413 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001124534	(Get FASTA)	NCBI Sequence Viewer
	NP_001124535	(Get FASTA)	NCBI Sequence Viewer
	NP_078908	(Get FASTA)	NCBI Sequence Viewer
	XP_047273665	(Get FASTA)	NCBI Sequence Viewer
	XP_054209433	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH09829	(Get FASTA)	NCBI Sequence Viewer
	AAQ16562	(Get FASTA)	NCBI Sequence Viewer
	AAX54477	(Get FASTA)	NCBI Sequence Viewer
	BAB13848	(Get FASTA)	NCBI Sequence Viewer
	EAW61637	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000297109
	ENSP00000297109.5
	ENSP00000390927
	ENSP00000390927.2
	ENSP00000416393
	ENSP00000416393.2
GenBank Protein	Q9HAJ7	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001124534 ⟸ NM_001131062
- Peptide Label:	isoform 2
- UniProtKB:	Q9HAJ7 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MNGFSTEEDSREGPPAAPAAAAPGYGQSCCLIEDGERCVRPAGNASFSKRVQKSISQKKLKLDI DKSVDLFQLQVNTLRRYKRHYKLQTRPGFNKAQLAETVSRHFRNIPVNEKETLAYFIYMVKSNK SRLDQKSEGGKQLE hide sequence

RefSeq Acc Id:	NP_001124535 ⟸ NM_001131063
- Peptide Label:	isoform 3
- UniProtKB:	Q9HAJ7 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MNGFSTEEDSREGPPAAPAAAAPGYGQSCCLIEDGERCVRPAGNASFSKRVQKSISQKKLKLDI DKSLQVNTLRRYKRHYKLQTRPGFNKAQLAETVSRHFRNIPVNEKETLAYFIYMVKSNKSRLDQ KSEGGKQLE hide sequence

RefSeq Acc Id:	NP_078908 ⟸ NM_024632
- Peptide Label:	isoform 1
- UniProtKB:	E9PAU7 (UniProtKB/Swiss-Prot), E9PAY2 (UniProtKB/Swiss-Prot), Q9HAJ7 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MNGFSTEEDSREGPPAAPAAAAPGYGQSCCLIEDGERCVRPAGNASFSKRVQKSISQKKLKLDI DKSVRHLYICDFHKNFIQSVRNKRKRKTSDDGGDSPEHDTDIPEVDLFQLQVNTLRRYKRHYKL QTRPGFNKAQLAETVSRHFRNIPVNEKETLAYFIYMVKSNKSRLDQKSEGGKQLE hide sequence

Ensembl Acc Id:

ENSP00000416393 ⟸ ENST00000426761

Ensembl Acc Id:

ENSP00000297109 ⟸ ENST00000297109

Ensembl Acc Id:

ENSP00000390927 ⟸ ENST00000440364

RefSeq Acc Id:	XP_047273665 ⟸ XM_047417709
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054209433 ⟸ XM_054353458
- Peptide Label:	isoform X1

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9HAJ7-F1-model_v2	AlphaFold	Q9HAJ7	1-183	view protein structure

Promoters

RGD ID:

6803669

Promoter ID:

HG_KWN:51603

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

NM_001131062, NM_001131063, NM_024632, NR_024084, UC003LVI.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	5	153,804,666 - 153,806,567 (-)	MPROMDB

RGD ID:

6871356

Promoter ID:

EPDNEW_H8843

Type:

initiation region

Name:

SAP30L_1

Description:

SAP30 like

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	154,445,997 - 154,446,057	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:25663	AgrOrtholog
COSMIC	SAP30L	COSMIC
Ensembl Genes	ENSG00000164576	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000297109	ENTREZGENE
	ENST00000297109.11	UniProtKB/Swiss-Prot
	ENST00000426761	ENTREZGENE
	ENST00000426761.2	UniProtKB/Swiss-Prot
	ENST00000440364	ENTREZGENE
	ENST00000440364.6	UniProtKB/Swiss-Prot
Gene3D-CATH	3.40.1800.30	UniProtKB/Swiss-Prot
	6.10.160.20	UniProtKB/Swiss-Prot
GTEx	ENSG00000164576	GTEx
HGNC ID	HGNC:25663	ENTREZGENE
Human Proteome Map	SAP30L	Human Proteome Map
InterPro	His_deAcase_SAP30/SAP30L	UniProtKB/Swiss-Prot
	SAP30_C_sf	UniProtKB/Swiss-Prot
	SAP30_Sin3-bd	UniProtKB/Swiss-Prot
	SAP30_zn-finger	UniProtKB/Swiss-Prot
KEGG Report	hsa:79685	UniProtKB/Swiss-Prot
NCBI Gene	79685	ENTREZGENE
OMIM	610398	OMIM
PANTHER	HISTONE DEACETYLASE COMPLEX SUBUNIT SAP30L	UniProtKB/Swiss-Prot
	PTHR13286	UniProtKB/Swiss-Prot
Pfam	SAP30_Sin3_bdg	UniProtKB/Swiss-Prot
	zf-SAP30	UniProtKB/Swiss-Prot
PharmGKB	PA144596386	PharmGKB
UniProt	E9PAU7	ENTREZGENE
	E9PAY2	ENTREZGENE
	Q9HAJ7	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	E9PAU7	UniProtKB/Swiss-Prot
	E9PAY2	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-07-19	SAP30L	SAP30 like		SAP30-like	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - CTD

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