ATP6V1D (ATPase H+ transporting V1 subunit D)

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Gene: ATP6V1D (ATPase H+ transporting V1 subunit D) Homo sapiens

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Symbol:

ATP6V1D

Name:

ATPase H+ transporting V1 subunit D

RGD ID:

1348353

HGNC Page

HGNC:13527

Description:

Predicted to enable proton-transporting ATPase activity, rotational mechanism. Involved in cilium assembly and protein localization to cilium. Located in several cellular components, including centrosome; cilium; and nucleoplasm. Part of proton-transporting V-type ATPase complex.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

ATP6M; ATPase, H+ transporting lysosomal, member M; ATPase, H+ transporting, lysosomal (vacuolar proton pump); ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D; H(+)-transporting two-sector ATPase, subunit M; V-ATPase 28 kDa accessory protein; V-ATPase D subunit; V-ATPase subunit D; V-type proton ATPase subunit D; vacuolar ATP synthase subunit D; vacuolar H-ATPase subunit D; vacuolar proton pump D subunit; vacuolar proton pump delta polypeptide; vacuolar proton pump subunit D; vacuolar proton-ATPase subunit D; VATD; VMA8

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):	Atp6v1d (ATPase, H+ transporting, lysosomal V1 subunit D)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Atp6v1d (ATPase H+ transporting V1 subunit D)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Atp6v1d (ATPase H+ transporting V1 subunit D)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	ATP6V1D (ATPase H+ transporting V1 subunit D)	NCBI	Ortholog
Canis lupus familiaris (dog):	ATP6V1D (ATPase H+ transporting V1 subunit D)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Atp6v1d (ATPase H+ transporting V1 subunit D)	NCBI	Ortholog
Sus scrofa (pig):	ATP6V1D (ATPase H+ transporting V1 subunit D)	HGNC	Ensembl, Inparanoid, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	ATP6V1D (ATPase H+ transporting V1 subunit D)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Atp6v1d (ATPase H+ transporting V1 subunit D)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Atp6v1d (ATPase H+ transporting V1 subunit D)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Atp6v1d (ATPase H+ transporting V1 subunit D)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Mus musculus (house mouse):	Atp6v1d (ATPase, H+ transporting, lysosomal V1 subunit D)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Atp6v1d (ATPase, H+ transporting, lysosomal V1 subunit D)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Danio rerio (zebrafish):	atp6v1d (ATPase H+ transporting V1 subunit D)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Danio rerio (zebrafish):	atp6v1d (ATPase H+ transporting V1 subunit D)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	VMA8	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Vha36-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Vha36-3	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	vha-14	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	atp6v1d.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	atp6v1d	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	atp6v1d.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	14	67,337,872 - 67,359,804 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	14	67,294,371 - 67,360,265 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	14	67,804,589 - 67,826,521 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	66,874,342 - 66,896,344 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	14	66,874,342 - 66,896,344	NCBI
Celera	14	47,863,642 - 47,885,645 (-)	NCBI		Celera
Cytogenetic Map	14	q23.3	NCBI
HuRef	14	47,974,504 - 47,996,644 (-)	NCBI		HuRef
CHM1_1	14	67,743,271 - 67,765,404 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	14	61,544,996 - 61,566,929 (-)	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

Chemical and Drug Induced Liver Injury (EXP)

Experimental Liver Cirrhosis (EXP)

Leber congenital amaurosis 13 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

1-naphthyl isothiocyanate (ISO)

1-nitropropane (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (ISO)

2,2',4,4'-Tetrabromodiphenyl ether (EXP,ISO)

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

2,4-diaminotoluene (ISO)

2,4-dinitrotoluene (ISO)

2,6-diaminotoluene (ISO)

2,6-dinitrotoluene (ISO)

2-acetamidofluorene (ISO)

2-hydroxypropanoic acid (EXP)

2-methylcholine (EXP)

2-nitro-p-phenylenediamine (ISO)

2-nitrofluorene (ISO)

2-nitropropane (ISO)

3H-1,2-dithiole-3-thione (ISO)

4,4'-diaminodiphenylmethane (ISO)

4,4'-sulfonyldiphenol (ISO)

4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one (ISO)

4-acetylaminofluorene (ISO)

4-nitro-1,2-phenylenediamine (ISO)

acrolein (EXP)

acrylamide (ISO)

aflatoxin B1 (EXP,ISO)

alpha-pinene (EXP)

anthracen-2-amine (ISO)

Aroclor 1254 (ISO)

arsenite(3-) (EXP)

benzo[a]pyrene (ISO)

beta-lapachone (EXP)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

Brodifacoum (ISO)

cadmium dichloride (EXP,ISO)

caffeine (EXP)

captan (ISO)

chloropicrin (EXP)

clofibric acid (ISO)

cocaine (ISO)

copper(II) sulfate (EXP)

CU-O LINKAGE (EXP)

cyclosporin A (EXP)

deoxynivalenol (EXP)

dicrotophos (EXP)

diethylstilbestrol (ISO)

doxorubicin (EXP,ISO)

epoxiconazole (ISO)

ethanol (ISO)

ethyl methanesulfonate (EXP)

finasteride (ISO)

flutamide (ISO)

folic acid (ISO)

folpet (ISO)

furan (ISO)

gentamycin (ISO)

GSK-J4 (EXP)

Heliotrine (ISO)

hydrazine (ISO)

hydrogen peroxide (EXP)

isoniazide (EXP)

isotretinoin (EXP)

ivermectin (EXP)

ketoconazole (ISO)

methidathion (ISO)

methyl methanesulfonate (EXP)

N-nitrosodiethylamine (ISO)

N-nitrosodimethylamine (ISO)

N-nitrosomorpholine (ISO)

nefazodone (ISO)

okadaic acid (EXP)

osimertinib (ISO)

ozone (EXP)

paracetamol (EXP,ISO)

perfluorooctanoic acid (ISO)

picoxystrobin (EXP)

pirinixic acid (ISO)

piroxicam (EXP)

pregnenolone 16alpha-carbonitrile (ISO)

rac-lactic acid (EXP)

resveratrol (EXP)

rotenone (EXP)

silicon dioxide (ISO)

sodium arsenite (EXP)

sodium dichromate (ISO)

Soman (ISO)

tamoxifen (ISO)

temozolomide (EXP)

thimerosal (EXP)

thioacetamide (ISO)

thiram (EXP)

titanium dioxide (ISO)

trichloroethene (ISO)

trichostatin A (EXP)

triphenyl phosphate (EXP)

tunicamycin (EXP)

urethane (EXP)

valproic acid (EXP,ISO)

vorinostat (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell projection organization (IEA)

cilium assembly (IMP)

endosomal lumen acidification (NAS)

Golgi lumen acidification (NAS)

intracellular pH reduction (NAS)

lysosomal lumen acidification (NAS)

monoatomic ion transport (IEA)

protein localization to cilium (IMP)

proton transmembrane transport (IEA,NAS)

regulation of macroautophagy (NAS)

synaptic vesicle lumen acidification (IEA)

vacuolar acidification (NAS)

Cellular Component

cell projection (IEA)

centrosome (IDA,IEA)

cilium (IDA,IEA)

clathrin-coated vesicle membrane (IEA)

cytoplasm (IEA)

cytoplasmic vesicle (IEA)

cytoskeleton (IEA)

cytosol (TAS)

endosome membrane (NAS)

extracellular exosome (HDA)

extrinsic component of synaptic vesicle membrane (IEA)

Golgi membrane (NAS)

lysosomal membrane (HDA,NAS)

membrane (IDA,IEA)

nucleoplasm (IDA)

plasma membrane (IDA,NAS,TAS)

proton-transporting V-type ATPase complex (IBA,IDA,IEA,NAS)

specific granule membrane (TAS)

vacuolar proton-transporting V-type ATPase, V1 domain (ISS)

Molecular Function

protein binding (IPI)

proton-transporting ATPase activity, rotational mechanism (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

oxidative phosphorylation pathway (IEA)

rheumatoid arthritis pathway (IEA)

Vibrio cholerae infection pathway (IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:2874839	PMID:8889548	PMID:9210392	PMID:9442887	PMID:10221984	PMID:10224039	PMID:10340843	PMID:10440860	PMID:10931946	PMID:11435709	PMID:11836511	PMID:11913976
PMID:12477932	PMID:12788495	PMID:14580332	PMID:14597263	PMID:14702039	PMID:15489334	PMID:16344560	PMID:17207965	PMID:17662945	PMID:17897319	PMID:18752060	PMID:19056867
PMID:19199708	PMID:19913121	PMID:20628086	PMID:21674799	PMID:21844891	PMID:21873635	PMID:22939629	PMID:22982048	PMID:23376485	PMID:25006744	PMID:25416956	PMID:26186194
PMID:26344197	PMID:26496610	PMID:28514442	PMID:28524877	PMID:28700943	PMID:29568061	PMID:31091453	PMID:32001091	PMID:32296183	PMID:32457219	PMID:33065002	PMID:33111431
PMID:33226137	PMID:33961781	PMID:34349018	PMID:34373451	PMID:34709727	PMID:35235311	PMID:35256949	PMID:35271311	PMID:35831314	PMID:36215168	PMID:36300783	PMID:36470425
PMID:36897256	PMID:36950384	PMID:37831778	PMID:39358380

Genomics

Comparative Map Data

ATP6V1D
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	14	67,337,872 - 67,359,804 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	14	67,294,371 - 67,360,265 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	14	67,804,589 - 67,826,521 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	66,874,342 - 66,896,344 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	14	66,874,342 - 66,896,344	NCBI
Celera	14	47,863,642 - 47,885,645 (-)	NCBI		Celera
Cytogenetic Map	14	q23.3	NCBI
HuRef	14	47,974,504 - 47,996,644 (-)	NCBI		HuRef
CHM1_1	14	67,743,271 - 67,765,404 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	14	61,544,996 - 61,566,929 (-)	NCBI		T2T-CHM13v2.0

Atp6v1d
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	12	78,889,756 - 78,908,810 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	12	78,887,499 - 78,908,412 (-)	Ensembl		GRCm39 Ensembl
GRCm38	12	78,842,982 - 78,862,008 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	12	78,840,725 - 78,861,638 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	12	79,943,969 - 79,962,625 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	12	79,761,822 - 79,780,478 (-)	NCBI		MGSCv36	mm8
Celera	12	80,307,557 - 80,326,098 (-)	NCBI		Celera
Cytogenetic Map	12	C3	NCBI
cM Map	12	35.51	NCBI

Atp6v1d
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	6	103,389,778 - 103,405,346 (-)	NCBI		GRCr8
GRCr8 Ensembl	6	103,389,783 - 103,405,346 (-)	Ensembl		GRCr8 Ensembl
mRatBN7.2	6	97,656,725 - 97,672,295 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	6	97,656,576 - 97,672,303 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	6	98,086,262 - 98,101,815 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	6	98,385,424 - 98,400,977 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	6	97,772,371 - 97,787,931 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	6	102,032,271 - 102,047,754 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	6	102,032,276 - 102,047,758 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	6	111,407,085 - 111,421,779 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	6	101,479,417 - 101,494,826 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	6	96,044,738 - 96,060,175 (-)	NCBI		Celera
RGSC_v3.1	6	101,482,872 - 101,498,282 (-)	NCBI
Cytogenetic Map	6	q24	NCBI

Atp6v1d
(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_004955466	2,854,889 - 2,869,950 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955466	2,855,597 - 2,869,319 (+)	NCBI	ChiLan1.0	ChiLan1.0

ATP6V1D
(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	15	68,443,858 - 68,465,639 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	14	67,660,171 - 67,682,150 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	14	47,913,254 - 47,935,376 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	14	66,792,168 - 66,813,714 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

ATP6V1D
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	8	41,332,581 - 41,354,058 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	8	41,333,021 - 41,354,320 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	8	41,024,328 - 41,045,781 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	8	41,559,923 - 41,581,418 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	8	41,559,926 - 41,581,376 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	8	41,178,800 - 41,200,277 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	8	41,252,376 - 41,273,861 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	8	41,611,332 - 41,632,798 (-)	NCBI		UU_Cfam_GSD_1.0

Atp6v1d
(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_024408640	63,453,024 - 63,462,396 (+)	NCBI		HiC_Itri_2

ATP6V1D
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	7	91,064,396 - 91,084,913 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	91,065,998 - 91,084,908 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	97,375,524 - 97,394,503 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ATP6V1D
(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	24	44,578,057 - 44,598,918 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	24	44,578,807 - 44,598,394 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666053	32,808,011 - 32,828,557 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Atp6v1d
(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_004624734	33,640,839 - 33,657,745 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624734	33,640,842 - 33,669,471 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ATP6V1D
11 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	copy number gain	See cases [RCV000135543]	Chr14:20151149..106855263 [GRCh38] Chr14:20619308..107263478 [GRCh37] Chr14:19689148..106334523 [NCBI36] Chr14:14q11.2-32.33	pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	copy number gain	See cases [RCV000143373]	Chr14:20043514..106877229 [GRCh38] Chr14:20511673..107285437 [GRCh37] Chr14:19581513..106356482 [NCBI36] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	copy number gain	See cases [RCV000446256]	Chr14:19794561..107234280 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3	copy number gain	See cases [RCV000448557]	Chr14:62493932..107285437 [GRCh37] Chr14:14q23.2-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	copy number gain	See cases [RCV000512041]	Chr14:20511673..107285437 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3	copy number gain	not provided [RCV000738413]	Chr14:19280733..107287663 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3	copy number gain	not provided [RCV000738414]	Chr14:19327823..107287663 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3	copy number gain	not provided [RCV000738412]	Chr14:19000422..107289053 [GRCh37] Chr14:14q11.1-32.33	pathogenic
GRCh37/hg19 14q23.3-24.1(chr14:67331167-68451970)x3	copy number gain	not provided [RCV001006646]	Chr14:67331167..68451970 [GRCh37] Chr14:14q23.3-24.1	uncertain significance
NC_000014.8:g.(?_65937790)_(68354021_?)dup	duplication	Leber congenital amaurosis 13 [RCV001341311]\|not provided [RCV001314756]	Chr14:65937790..68354021 [GRCh37] Chr14:14q23.3-24.1	uncertain significance\|no classifications from unflagged records
GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	copy number gain	14q22.2q24.3 duplication [RCV001506967]	Chr14:54654001..75828024 [GRCh37] Chr14:14q22.2-24.3	likely pathogenic
GRCh37/hg19 14q23.3-24.1(chr14:67443801-68153682)	copy number gain	not specified [RCV002053109]	Chr14:67443801..68153682 [GRCh37] Chr14:14q23.3-24.1	uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	copy number gain	See cases [RCV002286356]	Chr14:37671058..106985955 [GRCh37] Chr14:14q13.3-32.33	pathogenic
NM_015994.4(ATP6V1D):c.599A>T (p.Tyr200Phe)	single nucleotide variant	not specified [RCV004208623]	Chr14:67340443 [GRCh38] Chr14:67807160 [GRCh37] Chr14:14q23.3	uncertain significance
NM_015994.4(ATP6V1D):c.89G>A (p.Arg30Gln)	single nucleotide variant	not specified [RCV004177552]	Chr14:67352993 [GRCh38] Chr14:67819710 [GRCh37] Chr14:14q23.3	uncertain significance
NM_015994.4(ATP6V1D):c.425T>C (p.Val142Ala)	single nucleotide variant	not specified [RCV004323640]	Chr14:67345799 [GRCh38] Chr14:67812516 [GRCh37] Chr14:14q23.3	uncertain significance
NM_015994.4(ATP6V1D):c.169T>A (p.Leu57Met)	single nucleotide variant	not specified [RCV004364105]	Chr14:67350681 [GRCh38] Chr14:67817398 [GRCh37] Chr14:14q23.3	uncertain significance
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	copy number gain	not provided [RCV003485036]	Chr14:58894502..107227240 [GRCh37] Chr14:14q23.1-32.33	pathogenic
GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	copy number gain	not provided [RCV003485034]	Chr14:57588965..68334517 [GRCh37] Chr14:14q22.3-24.1	likely pathogenic
GRCh37/hg19 14q23.3-24.1(chr14:67443098-68423187)x3	copy number gain	not provided [RCV003485037]	Chr14:67443098..68423187 [GRCh37] Chr14:14q23.3-24.1	uncertain significance
GRCh37/hg19 14q23.3-24.1(chr14:67491176-68153682)x3	copy number gain	not specified [RCV003987055]	Chr14:67491176..68153682 [GRCh37] Chr14:14q23.3-24.1	uncertain significance
NM_015994.4(ATP6V1D):c.446C>T (p.Ala149Val)	single nucleotide variant	not specified [RCV004418774]	Chr14:67345778 [GRCh38] Chr14:67812495 [GRCh37] Chr14:14q23.3	uncertain significance
NM_015994.4(ATP6V1D):c.613A>C (p.Ile205Leu)	single nucleotide variant	not specified [RCV004418778]	Chr14:67338752 [GRCh38] Chr14:67805469 [GRCh37] Chr14:14q23.3	uncertain significance
NM_015994.4(ATP6V1D):c.65G>A (p.Arg22His)	single nucleotide variant	not specified [RCV004418779]	Chr14:67353017 [GRCh38] Chr14:67819734 [GRCh37] Chr14:14q23.3	uncertain significance
NM_015994.4(ATP6V1D):c.484A>G (p.Ile162Val)	single nucleotide variant	not specified [RCV004418775]	Chr14:67343411 [GRCh38] Chr14:67810128 [GRCh37] Chr14:14q23.3	uncertain significance
NM_015994.4(ATP6V1D):c.89G>T (p.Arg30Leu)	single nucleotide variant	not specified [RCV004418780]	Chr14:67352993 [GRCh38] Chr14:67819710 [GRCh37] Chr14:14q23.3	uncertain significance
NM_015994.4(ATP6V1D):c.490A>G (p.Ile164Val)	single nucleotide variant	not specified [RCV004418776]	Chr14:67343405 [GRCh38] Chr14:67810122 [GRCh37] Chr14:14q23.3	uncertain significance
NM_015994.4(ATP6V1D):c.587G>A (p.Arg196Gln)	single nucleotide variant	not specified [RCV004418777]	Chr14:67340455 [GRCh38] Chr14:67807172 [GRCh37] Chr14:14q23.3	uncertain significance
NM_015994.4(ATP6V1D):c.178G>A (p.Glu60Lys)	single nucleotide variant	not specified [RCV005289864]	Chr14:67350672 [GRCh38] Chr14:67817389 [GRCh37] Chr14:14q23.3	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	2820
Count of miRNA genes:	1029
Interacting mature miRNAs:	1251
Transcripts:	ENST00000216442, ENST00000553408, ENST00000553687, ENST00000553974, ENST00000554087, ENST00000554236, ENST00000555012, ENST00000555335, ENST00000555431, ENST00000555474, ENST00000555625, ENST00000555723, ENST00000556058, ENST00000557244
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
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.

Markers in Region

G60022

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	67,804,344 - 67,804,448	UniSTS	GRCh37
Build 36	14	66,874,097 - 66,874,201	RGD	NCBI36
Celera	14	47,863,397 - 47,863,501	RGD
Cytogenetic Map	14	q23-q24.2	UniSTS
HuRef	14	47,974,267 - 47,974,371	UniSTS
TNG Radiation Hybrid Map	14	22694.0	UniSTS

GDB:437525

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	67,827,498 - 67,827,555	UniSTS	GRCh37
Build 36	14	66,897,251 - 66,897,308	RGD	NCBI36
Celera	14	47,886,552 - 47,886,609	RGD
Cytogenetic Map	14	q23.3	UniSTS
Cytogenetic Map	14	q23-q24.2	UniSTS
HuRef	14	47,997,422 - 47,997,479	UniSTS

G36025

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	67,812,824 - 67,812,932	UniSTS	GRCh37
Build 36	14	66,882,577 - 66,882,685	RGD	NCBI36
Celera	14	47,871,877 - 47,871,985	RGD
Cytogenetic Map	14	q23-q24.2	UniSTS
HuRef	14	47,982,747 - 47,982,855	UniSTS

A002U41

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	67,804,643 - 67,804,769	UniSTS	GRCh37
Build 36	14	66,874,396 - 66,874,522	RGD	NCBI36
Celera	14	47,863,696 - 47,863,822	RGD
Cytogenetic Map	14	q23-q24.2	UniSTS
HuRef	14	47,974,566 - 47,974,692	UniSTS
GeneMap99-GB4 RH Map	14	157.44	UniSTS
NCBI RH Map	14	647.8	UniSTS

RH48795

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	67,804,333 - 67,804,453	UniSTS	GRCh37
Build 36	14	66,874,086 - 66,874,206	RGD	NCBI36
Celera	14	47,863,386 - 47,863,506	RGD
Cytogenetic Map	14	q23-q24.2	UniSTS
HuRef	14	47,974,256 - 47,974,376	UniSTS
GeneMap99-GB4 RH Map	14	156.91	UniSTS
NCBI RH Map	14	647.8	UniSTS

RH11239

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	67,804,873 - 67,805,025	UniSTS	GRCh37
Build 36	14	66,874,626 - 66,874,778	RGD	NCBI36
Celera	14	47,863,926 - 47,864,078	RGD
Cytogenetic Map	14	q23-q24.2	UniSTS
HuRef	14	47,974,796 - 47,974,948	UniSTS
GeneMap99-GB4 RH Map	14	157.44	UniSTS
NCBI RH Map	14	647.8	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	NG_008875	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_015994	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF077614	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF100741	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF104629	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF145316	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK001155	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315784	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL139785	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC001411	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC025373	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC031002	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BF669634	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG236185	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU726615	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471061	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068264	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB039102	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000216442 ⟹ ENSP00000216442

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	67,337,872 - 67,359,804 (-)	Ensembl

Ensembl Acc Id:

ENST00000553408 ⟹ ENSP00000450834

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	67,336,188 - 67,350,669 (-)	Ensembl

Ensembl Acc Id:

ENST00000553687 ⟹ ENSP00000452492

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	67,350,618 - 67,359,832 (-)	Ensembl

Ensembl Acc Id:

ENST00000553974

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	67,312,005 - 67,337,776 (-)	Ensembl

Ensembl Acc Id:

ENST00000554087 ⟹ ENSP00000451167

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	67,294,371 - 67,359,791 (-)	Ensembl

Ensembl Acc Id:

ENST00000554236 ⟹ ENSP00000452192

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	67,338,499 - 67,359,787 (-)	Ensembl

Ensembl Acc Id:

ENST00000555012 ⟹ ENSP00000451031

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	67,350,632 - 67,360,265 (-)	Ensembl

Ensembl Acc Id:

ENST00000555335

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	67,348,855 - 67,359,794 (-)	Ensembl

Ensembl Acc Id:

ENST00000555431 ⟹ ENSP00000450841

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	67,338,251 - 67,359,787 (-)	Ensembl

Ensembl Acc Id:

ENST00000555474 ⟹ ENSP00000450885

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	67,338,071 - 67,359,803 (-)	Ensembl

Ensembl Acc Id:

ENST00000555625 ⟹ ENSP00000451564

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	67,336,678 - 67,349,061 (-)	Ensembl

Ensembl Acc Id:

ENST00000555723 ⟹ ENSP00000452029

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	67,338,555 - 67,352,937 (-)	Ensembl

Ensembl Acc Id:

ENST00000556058 ⟹ ENSP00000451422

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	67,343,372 - 67,359,794 (-)	Ensembl

Ensembl Acc Id:

ENST00000557244

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	67,352,731 - 67,359,742 (-)	Ensembl

RefSeq Acc Id:

NM_015994 ⟹ NP_057078

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	67,337,872 - 67,359,804 (-)	NCBI
GRCh37	14	67,804,581 - 67,826,720 (-)	ENTREZGENE
Build 36	14	66,874,342 - 66,896,344 (-)	NCBI Archive
Celera	14	47,863,642 - 47,885,645 (-)	RGD
HuRef	14	47,974,504 - 47,996,644 (-)	ENTREZGENE
CHM1_1	14	67,743,271 - 67,765,404 (-)	NCBI
T2T-CHM13v2.0	14	61,544,996 - 61,566,929 (-)	NCBI

Sequence:

show sequence

ACAACCAGCTGACTCCCGTAGAGGAAGACACTGTGGAGGCCAGTTCTGGAGCTATTGCAGCCTC
GGTTGCCCGGCCGGGGACCCGAGCCGAAAAGTTATCGTCAGAATGTCGGGCAAAGACCGAATTG
AAATCTTTCCCTCGCGAATGGCACAGACCATCATGAAGGCTCGTTTAAAGGGAGCACAGACAGG
TCGAAACCTCCTGAAGAAAAAATCTGATGCCTTAACTCTTCGATTTCGACAGATCCTAAAGAAG
ATAATAGAGACTAAAATGTTGATGGGCGAAGTGATGAGAGAAGCTGCCTTTTCACTAGCTGAAG
CCAAGTTCACAGCAGGTGACTTCAGCACTACAGTTATCCAAAATGTCAATAAAGCGCAAGTGAA
GATTCGAGCGAAGAAAGATAATGTAGCAGGTGTTACTTTGCCAGTATTTGAACATTACCATGAA
GGAACTGACAGTTATGAACTGACTGGTTTAGCCAGAGGTGGGGAACAGTTGGCTAAATTAAAGA
GGAATTATGCCAAAGCAGTGGAACTACTGGTGGAACTAGCTTCTCTGCAGACTTCTTTTGTTAC
TTTGGATGAAGCTATTAAGATAACCAACAGGCGTGTAAATGCCATTGAACATGTCATCATTCCC
CGGATTGAACGTACTCTTGCTTATATCATCACAGAGCTGGATGAGAGAGAGCGAGAAGAGTTCT
ATAGGTTAAAGAAAATACAAGAGAAGAAAAAGATTCTAAAGGAAAAATCTGAGAAGGACTTGGA
GCAAAGGAGAGCAGCTGGAGAGGTGTTGGAGCCTGCTAATCTTCTGGCTGAAGAGAAGGACGAG
GATCTTCTATTTGAATAATCTTTCCTGTTCTGGTTCTTTGAGAAACCCTAACACTGGCTTCATT
TTAATTCACAGTGTGTAGGTTTGATTTGTGTGGCTATTTATTTTTTGGCCTAAGAATTTCACTG
GTTGTAAAATTTACCTAGATGTCTATTTATGGGATTACTTTTGCAGAATCATAATTTAGCAACC
ATTTATCATGGATGAAAGAGATCTGTAAAACCTGCCCAGGAACTTACAGAATTTACTTTGCAGA
AGCGTTATCATACTCCATTTACATCTGTGTTACACGTGATCTGCTTACCAAGCATATTAGGAAA
TACCTCTTAGGAAGCATTAGCGGTCTCAGGCCAATTACTGTGGAGCAGCTTTCATTCCTACCCA
CTTGCAAACCTTGGCGCTGTTGTCTGAGATTGCTGCAGCCATTCTTGTTACCATGGTACTTCTC
AAACTTTGTGAAAACCTGCACTTTTCCTTGCATGACAGGTTCCTGTCTTGTCTGTCATGGGAGC
CATTCTGCCAATTTAAATGCGACTGTGGTATAAACAGTAAAATGATTTAAAAGTAAGTCATTCC
GTTTTTATTAATTTACTGTTAAGTCATGTTCTCATGCTCAGATCAGTAGTGTCAGCCAGAGCTT
TCTCTGCAGACATGTAGGAAGTGGGTAGCTATTTTTCCCACTCCATGTATTAGAGTTTTACAAA
AAGGCTTACTTTTGAGACAACTGTTGCATTTTGGGGTACTAATAAATGATTGCCGATGAGTTA

hide sequence

Protein Sequences


Protein RefSeqs	NP_057078	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD33953	(Get FASTA)	NCBI Sequence Viewer
	AAD40384	(Get FASTA)	NCBI Sequence Viewer
	AAG30726	(Get FASTA)	NCBI Sequence Viewer
	AAG43047	(Get FASTA)	NCBI Sequence Viewer
	AAH01411	(Get FASTA)	NCBI Sequence Viewer
	AAH25373	(Get FASTA)	NCBI Sequence Viewer
	AAH31002	(Get FASTA)	NCBI Sequence Viewer
	BAA91523	(Get FASTA)	NCBI Sequence Viewer
	BAG38130	(Get FASTA)	NCBI Sequence Viewer
	EAW80931	(Get FASTA)	NCBI Sequence Viewer
	EAW80932	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000216442
	ENSP00000216442.7
	ENSP00000451167.1
GenBank Protein	Q9Y5K8	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_057078 ⟸ NM_015994
- UniProtKB:	B2RE33 (UniProtKB/Swiss-Prot), Q9Y688 (UniProtKB/Swiss-Prot), Q9Y5K8 (UniProtKB/Swiss-Prot), Q6PJ05 (UniProtKB/TrEMBL), Q8N5Z9 (UniProtKB/TrEMBL), Q9H3H0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSGKDRIEIFPSRMAQTIMKARLKGAQTGRNLLKKKSDALTLRFRQILKKIIETKMLMGEVMRE AAFSLAEAKFTAGDFSTTVIQNVNKAQVKIRAKKDNVAGVTLPVFEHYHEGTDSYELTGLARGG EQLAKLKRNYAKAVELLVELASLQTSFVTLDEAIKITNRRVNAIEHVIIPRIERTLAYIITELD EREREEFYRLKKIQEKKKILKEKSEKDLEQRRAAGEVLEPANLLAEEKDEDLLFE hide sequence

Ensembl Acc Id:

ENSP00000452029 ⟸ ENST00000555723

Ensembl Acc Id:

ENSP00000451564 ⟸ ENST00000555625

Ensembl Acc Id:

ENSP00000451031 ⟸ ENST00000555012

Ensembl Acc Id:

ENSP00000450885 ⟸ ENST00000555474

Ensembl Acc Id:

ENSP00000450841 ⟸ ENST00000555431

Ensembl Acc Id:

ENSP00000451422 ⟸ ENST00000556058

Ensembl Acc Id:

ENSP00000216442 ⟸ ENST00000216442

Ensembl Acc Id:

ENSP00000450834 ⟸ ENST00000553408

Ensembl Acc Id:

ENSP00000452492 ⟸ ENST00000553687

Ensembl Acc Id:

ENSP00000452192 ⟸ ENST00000554236

Ensembl Acc Id:

ENSP00000451167 ⟸ ENST00000554087

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9Y5K8-F1-model_v2	AlphaFold	Q9Y5K8	1-247	view protein structure

Promoters

RGD ID:

6791419

Promoter ID:

HG_KWN:19618

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

NM_015994, OTTHUMT00000074342, UC001XJE.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	14	66,896,186 - 66,896,907 (+)	MPROMDB

RGD ID:

6852092

Promoter ID:

EP73852

Type:

multiple initiation site

Name:

HS_ATP6V1D

Description:

ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D.

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

NEDO full length human cDNA sequencing project.; Oligo-capping

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	14	66,896,274 - 66,896,334	EPD

RGD ID:

7227943

Promoter ID:

EPDNEW_H19717

Type:

initiation region

Name:

ATP6V1D_1

Description:

ATPase H+ transporting V1 subunit D

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	14	67,359,804 - 67,359,864	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:13527	AgrOrtholog
COSMIC	ATP6V1D	COSMIC
Ensembl Genes	ENSG00000100554	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000216442	ENTREZGENE
	ENST00000216442.12	UniProtKB/Swiss-Prot
	ENST00000554087.5	UniProtKB/Swiss-Prot
Gene3D-CATH	1.10.287.3240	UniProtKB/Swiss-Prot
GTEx	ENSG00000100554	GTEx
HGNC ID	HGNC:13527	ENTREZGENE
Human Proteome Map	ATP6V1D	Human Proteome Map
InterPro	V_ATPase_D	UniProtKB/Swiss-Prot
KEGG Report	hsa:51382	UniProtKB/Swiss-Prot
NCBI Gene	51382	ENTREZGENE
OMIM	609398	OMIM
PANTHER	PTHR11671	UniProtKB/Swiss-Prot
Pfam	ATP-synt_D	UniProtKB/Swiss-Prot
PharmGKB	PA25157	PharmGKB
UniProt	B2RE33	ENTREZGENE
	G3V2S6_HUMAN	UniProtKB/TrEMBL
	G3V2V6_HUMAN	UniProtKB/TrEMBL
	G3V341_HUMAN	UniProtKB/TrEMBL
	G3V3T8_HUMAN	UniProtKB/TrEMBL
	G3V559_HUMAN	UniProtKB/TrEMBL
	G3V5S7_HUMAN	UniProtKB/TrEMBL
	H0YJ55_HUMAN	UniProtKB/TrEMBL
	H0YJH8_HUMAN	UniProtKB/TrEMBL
	H0YJS0_HUMAN	UniProtKB/TrEMBL
	Q6PJ05	ENTREZGENE, UniProtKB/TrEMBL
	Q8N5Z9	ENTREZGENE, UniProtKB/TrEMBL
	Q9H3H0	ENTREZGENE, UniProtKB/TrEMBL
	Q9Y5K8	ENTREZGENE
	Q9Y688	ENTREZGENE
	VATD_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	B2RE33	UniProtKB/Swiss-Prot
	Q9Y688	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-16	ATP6V1D	ATPase H+ transporting V1 subunit D	ATP6V1D	ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D	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)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Annotations - KEGG (archival)

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Annotations - KEGG (archival)