ISCA1 (iron-sulfur cluster assembly 1)

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Gene: ISCA1 (iron-sulfur cluster assembly 1) Homo sapiens

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Symbol:

ISCA1

Name:

iron-sulfur cluster assembly 1

RGD ID:

1350652

HGNC Page

HGNC:28660

Description:

Predicted to enable 2 iron, 2 sulfur cluster binding activity. Predicted to be involved in iron-sulfur cluster assembly and protein maturation by iron-sulfur cluster transfer. Located in mitochondrion. Part of mitochondrial [4Fe-4S] assembly complex. Implicated in multiple mitochondrial dysfunctions syndrome 5.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

HBLD2; HESB like domain containing 2; HESB-like domain-containing protein 2; hIscA; hIscA1; iron sulfur assembly protein IscA; iron-sulfur assembly protein IscA; iron-sulfur cluster assembly 1 homolog, mitochondrial; ISA1; MGC4276; MMDS5; RP11-507D14.2

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):	Isca1 (iron-sulfur cluster assembly 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Isca1 (iron-sulfur cluster assembly 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Isca1 (iron-sulfur cluster assembly 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	ISCA1 (iron-sulfur cluster assembly 1)	NCBI	Ortholog
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Isca1 (iron-sulfur cluster assembly 1)	NCBI	Ortholog
Sus scrofa (pig):	LOC100513185 (iron-sulfur cluster assembly 1 homolog, mitochondrial pseudogene)	HGNC	Ensembl, OMA, Panther
Chlorocebus sabaeus (green monkey):	ISCA1 (iron-sulfur cluster assembly 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Isca1 (iron-sulfur cluster assembly 1)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	AK157302 (cDNA sequence AK157302)	HGNC	EggNOG, Ensembl, Inparanoid, OMA, OrthoMCL, Panther, PhylomeDB, Treefam
Canis lupus familiaris (dog):	ISCA1 (iron-sulfur cluster assembly 1)	HGNC	Inparanoid, NCBI
Sus scrofa (pig):	ISCA1 (iron-sulfur cluster assembly 1)	HGNC	NCBI, Panther
Rattus norvegicus (Norway rat):	Dnm1 (dynamin 1)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Isca1 (iron-sulfur cluster assembly 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Mus musculus (house mouse):	Isca1 (iron-sulfur cluster assembly 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Mus musculus (house mouse):	AK157302 (cDNA sequence AK157302)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Danio rerio (zebrafish):	isca1 (iron-sulfur cluster assembly 1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	ISA1	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	MagR	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	Y39B6A.3	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	isca1	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER)
Xenopus laevis (African clawed frog):	isca1.L	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

AC018695.5 ISCA1P1 ISCA1P2 ISCA1P3 ISCA1P4 ISCA1P5 ISCA1P6 ISCA1P7 LOC100422233

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	9	86,264,546 - 86,282,538 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	86,264,546 - 86,283,102 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	88,879,461 - 88,897,453 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	88,069,281 - 88,087,310 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	9	86,109,015 - 86,127,044	NCBI
Celera	9	59,449,572 - 59,467,604 (-)	NCBI		Celera
Cytogenetic Map	9	q21.33	NCBI
HuRef	9	58,702,212 - 58,720,322 (-)	NCBI		HuRef
CHM1_1	9	89,025,905 - 89,043,932 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	9	98,415,772 - 98,433,767 (-)	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

multiple mitochondrial dysfunctions syndrome (IAGP)

multiple mitochondrial dysfunctions syndrome 5 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

2,2',4,4',5,5'-hexachlorobiphenyl (ISO)

2,2',5,5'-tetrachlorobiphenyl (ISO)

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

3,4-methylenedioxymethamphetamine (ISO)

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

4,4'-diaminodiphenylmethane (ISO)

4,4'-sulfonyldiphenol (EXP)

5-azacytidine (EXP)

6-propyl-2-thiouracil (ISO)

aflatoxin B1 (EXP)

amitrole (ISO)

ammonium chloride (ISO)

arsane (EXP)

arsenic atom (EXP)

benzo[a]pyrene (ISO)

bisphenol A (EXP,ISO)

bortezomib (EXP)

C60 fullerene (ISO)

cadmium dichloride (EXP,ISO)

CGP 52608 (EXP)

chlorpyrifos (ISO)

choline (ISO)

Clofop (EXP)

copper(II) sulfate (EXP)

cylindrospermopsin (EXP)

dexamethasone (EXP)

diazinon (EXP)

dibutyl phthalate (ISO)

doxorubicin (EXP)

finasteride (ISO)

flutamide (ISO)

folic acid (EXP,ISO)

gentamycin (ISO)

glycidyl methacrylate (EXP)

indometacin (EXP)

isotretinoin (EXP)

L-methionine (ISO)

Mesaconitine (ISO)

methimazole (ISO)

methylmercury chloride (EXP)

nitrofen (ISO)

oxaliplatin (ISO)

paracetamol (EXP,ISO)

PCB138 (ISO)

pirinixic acid (ISO)

potassium chromate (EXP)

senecionine (ISO)

silver atom (EXP)

silver(0) (EXP)

sodium arsenite (EXP)

Soman (ISO)

sulindac (ISO)

topotecan (ISO)

Triptolide (ISO)

valproic acid (EXP)

vitamin E (EXP)

zinc atom (EXP)

zinc(0) (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

iron-sulfur cluster assembly (IBA,IEA)

protein maturation by iron-sulfur cluster transfer (IBA)

Cellular Component

cytoplasm (IBA)

mitochondrial [4Fe-4S] assembly complex (IDA)

mitochondrial matrix (TAS)

mitochondrion (HTP,IBA,IEA)

Molecular Function

2 iron, 2 sulfur cluster binding (IBA)

iron-sulfur cluster binding (IEA)

metal ion binding (IEA)

protein binding (IPI)

Molecular Pathway Annotations Click to see Annotation Detail View

mitochondrial iron-sulfur cluster protein biogenesis pathway (TAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autosomal recessive inheritance (IAGP)

Delayed myelination (IAGP)

Developmental regression (IAGP)

Elevated circulating creatine kinase concentration (IAGP)

Feeding difficulties (IAGP)

Global developmental delay (IAGP)

Growth delay (IAGP)

Hyperreflexia (IAGP)

Increased circulating lactate concentration (IAGP)

Infantile onset (IAGP)

Leukodystrophy (IAGP)

Microcephaly (IAGP)

Pachygyria (IAGP)

Pigmentary retinopathy (IAGP)

Progressive (IAGP)

Seizure (IAGP)

Spasticity (IAGP)

Strabismus (IAGP)

Ventriculomegaly (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery.	Maio N and Rouault TA, Biochim Biophys Acta. 2015 Jun;1853(6):1493-512. doi: 10.1016/j.bbamcr.2014.09.009. Epub 2014 Sep 19.
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8125298	PMID:8619474	PMID:9110174	PMID:12477932	PMID:14702039	PMID:15164053	PMID:15262227	PMID:15489334	PMID:19322201	PMID:19656490	PMID:19864422	PMID:20186120
PMID:20302570	PMID:20877624	PMID:21873635	PMID:22323289	PMID:24217246	PMID:24733926	PMID:25347204	PMID:26186194	PMID:26496610	PMID:26638075	PMID:28356563	PMID:28380382
PMID:28514442	PMID:28615675	PMID:29568061	PMID:30021884	PMID:30585266	PMID:31580634	PMID:32092383	PMID:32877691	PMID:33711344	PMID:33961781	PMID:34373451	PMID:34800366
PMID:35563538	PMID:35831314	PMID:36072584	PMID:37225108

Genomics

Comparative Map Data

ISCA1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	86,264,546 - 86,282,538 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	86,264,546 - 86,283,102 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	88,879,461 - 88,897,453 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	88,069,281 - 88,087,310 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	9	86,109,015 - 86,127,044	NCBI
Celera	9	59,449,572 - 59,467,604 (-)	NCBI		Celera
Cytogenetic Map	9	q21.33	NCBI
HuRef	9	58,702,212 - 58,720,322 (-)	NCBI		HuRef
CHM1_1	9	89,025,905 - 89,043,932 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	9	98,415,772 - 98,433,767 (-)	NCBI		T2T-CHM13v2.0

Isca1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	13	59,903,229 - 59,917,603 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	13	59,903,223 - 59,917,624 (-)	Ensembl		GRCm39 Ensembl
GRCm38	13	59,755,415 - 59,769,789 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	13	59,755,409 - 59,769,810 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	13	59,856,776 - 59,871,150 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	13	59,765,038 - 59,779,412 (-)	NCBI		MGSCv36	mm8
Celera	13	60,813,565 - 60,829,332 (-)	NCBI		Celera
Cytogenetic Map	13	B2	NCBI
cM Map	13	31.88	NCBI

Isca1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	17	4,910,816 - 4,923,478 (+)	NCBI		GRCr8
mRatBN7.2	17	4,905,291 - 4,917,955 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	17	4,905,287 - 4,917,955 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	17	4,924,890 - 4,937,662 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	17	6,466,859 - 6,479,549 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	17	4,921,330 - 4,934,105 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	17	5,281,727 - 5,294,386 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	17	5,281,727 - 5,294,384 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	17	7,507,069 - 7,519,772 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	17	10,808,966 - 10,821,681 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	17	10,808,965 - 10,821,679 (+)	NCBI
Celera	17	5,026,823 - 5,039,495 (+)	NCBI		Celera
Cytogenetic Map	17	p14	NCBI

Isca1
(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_004955432	1,335,481 - 1,349,847 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955432	1,335,481 - 1,349,852 (+)	NCBI	ChiLan1.0	ChiLan1.0

ISCA1
(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	11	53,120,297 - 53,141,390 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	9	53,125,609 - 53,143,778 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	9	57,410,328 - 57,428,477 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	9	85,467,139 - 85,485,107 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	9	85,467,145 - 85,485,107 (-)	Ensembl	panpan1.1		panPan2

Isca1
(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_024404947	120,048,452 - 120,064,421 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936680	1,673,666 - 1,689,635 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936680	1,673,666 - 1,689,646 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

LOC100513185
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	16	70,893,220 - 70,893,762 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	16	76,999,935 - 77,000,396 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ISCA1
(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	12	96,900,619 - 96,915,611 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	12	96,897,849 - 96,915,540 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666038	85,250,660 - 85,266,902 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Isca1
(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_004624809	11,099,485 - 11,114,917 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624809	11,099,483 - 11,114,917 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ISCA1
41 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	See cases [RCV000050348]	Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	copy number gain	See cases [RCV000053746]	Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]\|See cases [RCV000053748]	Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3	copy number gain	See cases [RCV000053745]	Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	copy number gain	See cases [RCV000133791]	Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	copy number gain	See cases [RCV000136788]	Chr9:68420430..106579493 [GRCh38] Chr9:71130848..109341774 [GRCh37] Chr9:70225166..108381595 [NCBI36] Chr9:9q21.11-31.2	pathogenic
GRCh38/hg38 9q21.33-22.31(chr9:86079851-91827221)x1	copy number loss	See cases [RCV000137602]	Chr9:86079851..91827221 [GRCh38] Chr9:88694766..94589503 [GRCh37] Chr9:87884586..93629324 [NCBI36] Chr9:9q21.33-22.31	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	copy number gain	See cases [RCV000138783]	Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q21.33(chr9:84861055-86784049)x1	copy number loss	See cases [RCV000139131]	Chr9:84861055..86784049 [GRCh38] Chr9:87475970..89398964 [GRCh37] Chr9:86665790..88588784 [NCBI36] Chr9:9q21.33	uncertain significance
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	copy number gain	See cases [RCV000139207]	Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	copy number gain	See cases [RCV000138962]	Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3	pathogenic\|conflicting data from submitters
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	copy number gain	See cases [RCV000141904]	Chr9:203861..88130444 [GRCh38] Chr9:203861..90745359 [GRCh37] Chr9:193861..89935179 [NCBI36] Chr9:9p24.3-q22.1	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	copy number gain	See cases [RCV000141876]	Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	copy number gain	See cases [RCV000143476]	Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	See cases [RCV000148113]	Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	copy number gain	See cases [RCV000240081]	Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
NM_030940.4(ISCA1):c.48G>A (p.Arg16=)	single nucleotide variant	not provided [RCV002104322]	Chr9:86282411 [GRCh38] Chr9:88897326 [GRCh37] Chr9:9q21.33	likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	copy number gain	See cases [RCV000449375]	Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	copy number gain	not specified [RCV003986800]	Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3	copy number gain	See cases [RCV000448978]	Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys)	single nucleotide variant	Fatal multiple mitochondrial dysfunctions syndrome [RCV000508655]\|Multiple mitochondrial dysfunctions syndrome 5 [RCV000497255]	Chr9:86266174 [GRCh38] Chr9:88881089 [GRCh37] Chr9:9q21.33	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	copy number gain	Global developmental delay [RCV000626548]	Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3	likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	copy number gain	See cases [RCV000512392]	Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3	copy number gain	not provided [RCV000748055]	Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3	copy number gain	not provided [RCV000748053]	Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3	copy number gain	not provided [RCV000748063]	Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2	copy number gain	not provided [RCV000748054]	Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274)	copy number gain	not provided [RCV000767645]	Chr9:79520825..97201274 [GRCh37] Chr9:9q21.2-22.32	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	copy number gain	not provided [RCV000845900]	Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
NM_030940.4(ISCA1):c.29T>G (p.Val10Gly)	single nucleotide variant	Multiple mitochondrial dysfunctions syndrome 5 [RCV000857321]	Chr9:86282430 [GRCh38] Chr9:88897345 [GRCh37] Chr9:9q21.33	pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	copy number gain	not provided [RCV000847808]	Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3	pathogenic
GRCh37/hg19 9q21.33(chr9:88622823-88951838)x3	copy number gain	not provided [RCV001006242]	Chr9:88622823..88951838 [GRCh37] Chr9:9q21.33	uncertain significance
NM_030940.4(ISCA1):c.348C>T (p.Asn116=)	single nucleotide variant	not provided [RCV001520095]	Chr9:86266085 [GRCh38] Chr9:88881000 [GRCh37] Chr9:9q21.33	benign
NM_030940.4(ISCA1):c.241+92G>A	single nucleotide variant	not provided [RCV001670198]	Chr9:86271915 [GRCh38] Chr9:88886830 [GRCh37] Chr9:9q21.33	benign
NC_000009.11:g.12246100_101559378inv	inversion	Recurrent spontaneous abortion [RCV000999471]	Chr9:12246100..101559378 [GRCh37] Chr9:9p23-q22.33	likely pathogenic
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	copy number gain	not specified [RCV002053853]	Chr9:71349994..122603410 [GRCh37] Chr9:9q21.11-33.2	likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	copy number gain	not specified [RCV002053823]	Chr9:353349..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
NM_030940.4(ISCA1):c.77C>A (p.Thr26Asn)	single nucleotide variant	not provided [RCV002047657]	Chr9:86282382 [GRCh38] Chr9:88897297 [GRCh37] Chr9:9q21.33	uncertain significance
NM_030940.4(ISCA1):c.203A>C (p.Lys68Thr)	single nucleotide variant	not provided [RCV001883577]	Chr9:86272045 [GRCh38] Chr9:88886960 [GRCh37] Chr9:9q21.33	uncertain significance
NM_030940.4(ISCA1):c.241+13_241+18del	deletion	not provided [RCV002164552]	Chr9:86271989..86271994 [GRCh38] Chr9:88886904..88886909 [GRCh37] Chr9:9q21.33	likely benign
NM_030940.4(ISCA1):c.18C>A (p.Val6=)	single nucleotide variant	not provided [RCV002140177]	Chr9:86282441 [GRCh38] Chr9:88897356 [GRCh37] Chr9:9q21.33	likely benign
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	copy number loss	Distal tetrasomy 15q [RCV002280776]	Chr9:19356861..119513311 [GRCh37] Chr9:9p22.1-q33.1	uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	copy number gain	See cases [RCV002292402]	Chr9:203861..131603223 [GRCh37] Chr9:9p24.3-q34.11	pathogenic
NM_030940.4(ISCA1):c.-2A>C	single nucleotide variant	not provided [RCV002263504]	Chr9:86282460 [GRCh38] Chr9:88897375 [GRCh37] Chr9:9q21.33	likely benign
NM_030940.4(ISCA1):c.91G>A (p.Ala31Thr)	single nucleotide variant	not provided [RCV002303165]	Chr9:86274233 [GRCh38] Chr9:88889148 [GRCh37] Chr9:9q21.33	uncertain significance
NM_030940.4(ISCA1):c.176G>A (p.Gly59Asp)	single nucleotide variant	not provided [RCV002681746]	Chr9:86272072 [GRCh38] Chr9:88886987 [GRCh37] Chr9:9q21.33	uncertain significance
NM_030940.4(ISCA1):c.30C>T (p.Val10=)	single nucleotide variant	not provided [RCV002571067]	Chr9:86282429 [GRCh38] Chr9:88897344 [GRCh37] Chr9:9q21.33	likely benign
NM_030940.4(ISCA1):c.317T>C (p.Leu106Ser)	single nucleotide variant	not provided [RCV002701231]	Chr9:86266116 [GRCh38] Chr9:88881031 [GRCh37] Chr9:9q21.33	uncertain significance
NM_030940.4(ISCA1):c.37G>A (p.Val13Met)	single nucleotide variant	not specified [RCV004087250]	Chr9:86282422 [GRCh38] Chr9:88897337 [GRCh37] Chr9:9q21.33	uncertain significance
NM_030940.4(ISCA1):c.135+17_135+18del	deletion	not provided [RCV002852538]	Chr9:86274171..86274172 [GRCh38] Chr9:88889086..88889087 [GRCh37] Chr9:9q21.33	likely benign
NM_030940.4(ISCA1):c.63C>G (p.Thr21=)	single nucleotide variant	not provided [RCV002919128]	Chr9:86282396 [GRCh38] Chr9:88897311 [GRCh37] Chr9:9q21.33	likely benign
NM_030940.4(ISCA1):c.82-10C>T	single nucleotide variant	not provided [RCV002711247]	Chr9:86274252 [GRCh38] Chr9:88889167 [GRCh37] Chr9:9q21.33	likely benign
NM_030940.4(ISCA1):c.79C>T (p.Leu27=)	single nucleotide variant	not provided [RCV002595274]	Chr9:86282380 [GRCh38] Chr9:88897295 [GRCh37] Chr9:9q21.33	likely benign
NM_030940.4(ISCA1):c.249A>T (p.Arg83Ser)	single nucleotide variant	not provided [RCV002811167]	Chr9:86266184 [GRCh38] Chr9:88881099 [GRCh37] Chr9:9q21.33	uncertain significance
NM_030940.4(ISCA1):c.248G>A (p.Arg83Lys)	single nucleotide variant	not provided [RCV003091605]	Chr9:86266185 [GRCh38] Chr9:88881100 [GRCh37] Chr9:9q21.33	uncertain significance
NM_030940.4(ISCA1):c.242-13del	deletion	not provided [RCV002725396]	Chr9:86266204 [GRCh38] Chr9:88881119 [GRCh37] Chr9:9q21.33	benign
NM_030940.4(ISCA1):c.27T>C (p.Thr9=)	single nucleotide variant	not provided [RCV002604271]	Chr9:86282432 [GRCh38] Chr9:88897347 [GRCh37] Chr9:9q21.33	likely benign
NM_030940.4(ISCA1):c.242-19_242-18del	deletion	not provided [RCV002586103]	Chr9:86266209..86266210 [GRCh38] Chr9:88881124..88881125 [GRCh37] Chr9:9q21.33	likely benign
NM_030940.4(ISCA1):c.81+10C>T	single nucleotide variant	not provided [RCV003544212]	Chr9:86282368 [GRCh38] Chr9:88897283 [GRCh37] Chr9:9q21.33	likely benign
NM_030940.4(ISCA1):c.82-18A>T	single nucleotide variant	not provided [RCV003840358]	Chr9:86274260 [GRCh38] Chr9:88889175 [GRCh37] Chr9:9q21.33	likely benign
NM_030940.4(ISCA1):c.81+11G>A	single nucleotide variant	not provided [RCV003836998]	Chr9:86282367 [GRCh38] Chr9:88897282 [GRCh37] Chr9:9q21.33	likely benign
NM_030940.4(ISCA1):c.82-16C>G	single nucleotide variant	not provided [RCV003842617]	Chr9:86274258 [GRCh38] Chr9:88889173 [GRCh37] Chr9:9q21.33	likely benign
NM_030940.4(ISCA1):c.81+3G>A	single nucleotide variant	ISCA1-related disorder [RCV003934743]	Chr9:86282375 [GRCh38] Chr9:88897290 [GRCh37] Chr9:9q21.33	likely benign
NM_030940.4(ISCA1):c.22G>T (p.Ala8Ser)	single nucleotide variant	not specified [RCV004403389]	Chr9:86282437 [GRCh38] Chr9:88897352 [GRCh37] Chr9:9q21.33	uncertain significance
NM_030940.4(ISCA1):c.20G>C (p.Arg7Pro)	single nucleotide variant	Multiple mitochondrial dysfunctions syndrome 5 [RCV003337860]	Chr9:86282439 [GRCh38] Chr9:88897354 [GRCh37] Chr9:9q21.33	uncertain significance
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	copy number gain	See cases [RCV000139789]	Chr9:69627642..111454304 [GRCh38] Chr9:72242558..114216584 [GRCh37] Chr9:71432378..113256405 [NCBI36] Chr9:9q21.12-31.3	pathogenic
GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4	copy number gain	See cases [RCV000512280]	Chr9:70966262..90761254 [GRCh37] Chr9:9q21.11-22.1	pathogenic
NM_030940.4(ISCA1):c.333G>A (p.Val111=)	single nucleotide variant	not provided [RCV002185251]	Chr9:86266100 [GRCh38] Chr9:88881015 [GRCh37] Chr9:9q21.33	likely benign
NM_030940.4(ISCA1):c.206C>T (p.Thr69Ile)	single nucleotide variant	not provided [RCV002903552]	Chr9:86272042 [GRCh38] Chr9:88886957 [GRCh37] Chr9:9q21.33	uncertain significance
NM_030940.4(ISCA1):c.62C>T (p.Thr21Ile)	single nucleotide variant	not provided [RCV002796825]	Chr9:86282397 [GRCh38] Chr9:88897312 [GRCh37] Chr9:9q21.33	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1299
Count of miRNA genes:	651
Interacting mature miRNAs:	735
Transcripts:	ENST00000311534, ENST00000326094, ENST00000375991, ENST00000452279
Prediction methods:	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.

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
406991090	GWAS640066_H	sex hormone-binding globulin measurement QTL GWAS640066 (human)		3e-08	sex hormone-binding globulin measurement		9	86271598	86271599	Human
407002995	GWAS651971_H	sex hormone-binding globulin measurement QTL GWAS651971 (human)		2e-11	sex hormone-binding globulin measurement		9	86271598	86271599	Human
407084241	GWAS733217_H	obsolete_red blood cell distribution width QTL GWAS733217 (human)		1e-12	obsolete_red blood cell distribution width	red blood cell distribution width- standard deviation (CMO:0003232)	9	86275200	86275201	Human
407168903	GWAS817879_H	cortical thickness QTL GWAS817879 (human)		5e-12	cortical thickness		9	86264610	86264611	Human
407111137	GWAS760113_H	mathematical ability QTL GWAS760113 (human)		2e-10	mathematical ability		9	86271332	86271333	Human
406996836	GWAS645812_H	sex hormone-binding globulin measurement QTL GWAS645812 (human)		3e-09	sex hormone-binding globulin measurement		9	86271598	86271599	Human
406989381	GWAS638357_H	sex hormone-binding globulin measurement QTL GWAS638357 (human)		7e-13	sex hormone-binding globulin measurement		9	86271598	86271599	Human
407346794	GWAS995770_H	cortical thickness QTL GWAS995770 (human)		8e-10	cortical thickness		9	86264610	86264611	Human
407100894	GWAS749870_H	mathematical ability QTL GWAS749870 (human)		5e-10	mathematical ability		9	86271332	86271333	Human
407257051	GWAS906027_H	brain measurement QTL GWAS906027 (human)		2e-20	brain measurement	brain measurement (CMO:0000911)	9	86278976	86278977	Human

Markers in Region

G34941

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	9	q21.33	UniSTS

RH66922

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	9	q21.33	UniSTS

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_030940	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA745613	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF038186	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF284752	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI436792	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK055643	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK225937	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK296093	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL137849	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL834356	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY015642	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC002675	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC053900	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC071621	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG772866	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471089	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068269	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000311534 ⟹ ENSP00000339003

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	86,265,679 - 86,282,108 (-)	Ensembl

Ensembl Acc Id:

ENST00000326094 ⟹ ENSP00000365157

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	86,266,863 - 86,282,538 (-)	Ensembl

Ensembl Acc Id:

ENST00000375991 ⟹ ENSP00000365159

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	86,264,546 - 86,282,538 (-)	Ensembl

Ensembl Acc Id:

ENST00000637705 ⟹ ENSP00000489740

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	86,266,094 - 86,283,102 (-)	Ensembl

RefSeq Acc Id:

NM_030940 ⟹ NP_112202

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	86,264,546 - 86,282,538 (-)	NCBI
GRCh37	9	88,879,461 - 88,897,676 (-)	NCBI
Build 36	9	88,069,281 - 88,087,310 (-)	NCBI Archive
Celera	9	59,449,572 - 59,467,604 (-)	RGD
HuRef	9	58,702,212 - 58,720,322 (-)	RGD
CHM1_1	9	89,025,905 - 89,043,932 (-)	NCBI
T2T-CHM13v2.0	9	98,415,772 - 98,433,767 (-)	NCBI

Sequence:

show sequence

AATGCGCCCGCCGTGTCCATGGAGAGAAGCTGAGGCGGCCGACCTTCGGCCCGAGGCACCGGGG
CGCCGGGACGGCGAAGATGTCGGCTTCCTTAGTCCGGGCAACTGTCCGGGCTGTGAGCAAGAGG
AAGCTGCAGCCCACCCGGGCAGCCCTCACCCTGACACCTTCAGCAGTAAACAAGATAAAACAAC
TTCTTAAAGATAAGCCTGAGCATGTAGGTGTAAAAGTTGGTGTCCGAACCAGGGGCTGTAATGG
CCTTTCTTATACTCTAGAATATACAAAGACAAAAGGAGATTCTGATGAAGAAGTTATTCAAGAT
GGAGTCAGAGTATTCATCGAAAAGAAAGCACAGCTAACACTTTTAGGAACAGAAATGGACTATG
TTGAAGACAAATTATCCAGTGAGTTTGTGTTCAATAACCCAAACATCAAAGGGACTTGTGGCTG
TGGAGAAAGCTTTAATATTTGAAATCTCAGGACTCTTCTGGCCGTAGGTTCCAGGAAAGCTCGT
GGAAGCTTTGGGGCTCACTGCAGAAATCATGTGACTGTCACGTGCTGGAAAATAAAGTGATACA
TCTTGAAAATGAATCCAGTGTGTTGGATTCCAGAAGAAATGATATTTATATTCTCTATAGGGGA
CAGAAAATGAGAAGCCATCACTCTTTTTGGATCATTTAGGTCTCTTGTATCCTTTGTTTTAGAA
CCAGTTTCATTAAAGTTGCCTTCCTGGGCACCTGTTTATCCATTTCCTGAACTGTGTGCACTCC
TTAGATCGCTATTGATGGCTTGATCATCCCTCAGCATTTCTCCCAACCAGATCGGTGACTCCTA
AAATCTGAGACAGGACATCGTGACTGCTGGTAGTAATATGGTGGTGCATTGTTTTTTCCACCCA
AACTTAACATAGCCTTTTTATACATTTTTATGAAAAATTTCATTGTCAGCTGCCTCACTGCATA
CTCTTTAATAGTACCAGGCAAAGATTTTCTTCAACTATAGTACAGATTAGTTCTGAGTGATGGT
ATCAAAAGGTGAGAAAGACGTCATCCGCCTTTTTTTAATCCATTTCTTTTGCCACCCTATATGT
CTGTTCAGAGATGGGCTCTCAAGCTGACTTTGATTCTTTTAGTTGAGAAGTCTCTTAAAGCCAT
CTAGCCCACCTCCATCAATTCCCTATGTGAGGAAGCAAAACCCCAGGGAAGCCAAAGGGCTCCT
GTCCACCCTGACACCACAGGCCGGGGGAGAGTAGGGACTCTACCCCCCTCTCCCCTTGTAGGTG
ACACATGCTCTGCCCTCTGAGGCAGTCAGCGAAGGCAAATGGTCTGACTTCTTTATGTGGTCAA
CATTTTGATAGAATTTCTTTATAATTTGATAGAGATTATATTATTTTTATTTTATTTTGAGTGG
GAAGAATTTTAAAACCTTTTTATGTCAATTACCATCTTGTTTCTTTCACCTTTGAAACAATGGT
TTGTAGCAGAGATGACATTGTAGCAACCCAGAATTATGCTTTTGGAATGTGGTCCTCACTGTAC
AGGAGAATGTGTAATCTTTTGTTAAAATTCCCAGTGTGCATACATTTTCTGGTTCCTCGGTCCA
GTTGCTAAAGTTCTTAGTATTTTAGCCTAACATATTTATCACCAACTTTTCTTTAAAAGTGTTC
CTTTTGTCACTTAGTTACTGATTTTCCTGGGTTTGACATAAGTATTCTATGAGATGATATATAT
GCTTTTTTTGAAAGCTGATTCTCATGAATTCAAGTAGCTGAGTTCCTTTATGTTTCGTTTATTC
ACTAAAGTAGCTGACACAAAACACACCAAAACCTAGAGCGGTAGTTTTATGTAAATGCTCATGA
GTTTGTATCAATAATATAATTGTTGATCCACTTATAATTCGTGCAACACTGTATGTATGTAGAG
ATTGAGTTGTCAATTAAAAAAAATGTGGCCTCTTTGTGATCATAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_112202	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAG40950	(Get FASTA)	NCBI Sequence Viewer
	AAG59854	(Get FASTA)	NCBI Sequence Viewer
	AAH02675	(Get FASTA)	NCBI Sequence Viewer
	AAH71621	(Get FASTA)	NCBI Sequence Viewer
	BAG51546	(Get FASTA)	NCBI Sequence Viewer
	BAG58847	(Get FASTA)	NCBI Sequence Viewer
	CAD39021	(Get FASTA)	NCBI Sequence Viewer
	EAW62712	(Get FASTA)	NCBI Sequence Viewer
	EAW62713	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000339003.4
	ENSP00000365157.1
	ENSP00000365159
	ENSP00000365159.4
	ENSP00000489740.1
GenBank Protein	Q9BUE6	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_112202 ⟸ NM_030940
- Peptide Label:	precursor
- UniProtKB:	Q8ND75 (UniProtKB/Swiss-Prot), B4DJI5 (UniProtKB/Swiss-Prot), B3KP34 (UniProtKB/Swiss-Prot), Q9BZR2 (UniProtKB/Swiss-Prot), Q9BUE6 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MSASLVRATVRAVSKRKLQPTRAALTLTPSAVNKIKQLLKDKPEHVGVKVGVRTRGCNGLSYTL EYTKTKGDSDEEVIQDGVRVFIEKKAQLTLLGTEMDYVEDKLSSEFVFNNPNIKGTCGCGESFN I hide sequence

Ensembl Acc Id:

ENSP00000489740 ⟸ ENST00000637705

Ensembl Acc Id:

ENSP00000365159 ⟸ ENST00000375991

Ensembl Acc Id:

ENSP00000339003 ⟸ ENST00000311534

Ensembl Acc Id:

ENSP00000365157 ⟸ ENST00000326094

Protein Domains

FeS cluster biogenesis

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9BUE6-F1-model_v2	AlphaFold	Q9BUE6	1-129	view protein structure

Promoters

RGD ID:

7215377

Promoter ID:

EPDNEW_H13435

Type:

initiation region

Name:

ISCA1_1

Description:

iron-sulfur cluster assembly 1

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	9	86,282,538 - 86,282,598	EPDNEW

RGD ID:

6807558

Promoter ID:

HG_KWN:63884

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:

ENST00000311534, ENST00000326094, OTTHUMT00000052914, UC010MQD.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	9	88,086,716 - 88,087,592 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:28660	AgrOrtholog
COSMIC	ISCA1	COSMIC
Ensembl Genes	ENSG00000135070	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000311534.6	UniProtKB/TrEMBL
	ENST00000326094.4	UniProtKB/TrEMBL
	ENST00000375991	ENTREZGENE
	ENST00000375991.9	UniProtKB/Swiss-Prot
	ENST00000637705.1	UniProtKB/TrEMBL
Gene3D-CATH	2.60.300.12	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000135070	GTEx
HGNC ID	HGNC:28660	ENTREZGENE
Human Proteome Map	ISCA1	Human Proteome Map
InterPro	Fe-S_cluster_asmbl/transfer	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FeS_biogenesis	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FeS_cluster_insertion	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FeS_cluster_insertion_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HesB-like_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:81689	UniProtKB/Swiss-Prot
NCBI Gene	81689	ENTREZGENE
OMIM	611006	OMIM
PANTHER	IRON-SULFUR CLUSTER ASSEMBLY 1 HOMOLOG, MITOCHONDRIAL	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	IRON-SULFUR CLUSTER ASSEMBLY PROTEIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Fe-S_biosyn	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA162392301	PharmGKB
PROSITE	HESB	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF89360	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A1B0GTK6_HUMAN	UniProtKB/TrEMBL
	B3KP34	ENTREZGENE
	B4DJI5	ENTREZGENE
	ISCA1_HUMAN	UniProtKB/Swiss-Prot
	Q5TBE2_HUMAN	UniProtKB/TrEMBL
	Q5TBE9_HUMAN	UniProtKB/TrEMBL
	Q8ND75	ENTREZGENE
	Q9BUE6	ENTREZGENE
	Q9BZR2	ENTREZGENE
UniProt Secondary	B3KP34	UniProtKB/Swiss-Prot
	B4DJI5	UniProtKB/Swiss-Prot
	Q8ND75	UniProtKB/Swiss-Prot
	Q9BZR2	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2013-08-13	ISCA1	iron-sulfur cluster assembly 1	ISCA1	iron-sulfur cluster assembly 1 homolog (S. cerevisiae)	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 - OMIM

RGD Manual Annotations

Imported Human Phenotype Annotations - HPO

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Human Phenotype Annotations - HPO