ISCA1 (iron-sulfur cluster assembly 1)

2014-11-01  

Identity

HGNC
ISCA1
LOCATION
9q21.33
LOCUSID
81689
ALIAS
HBLD2,ISA1,MMDS5,hIscA

Other Information

Locus ID:

NCBI: 81689
MIM: 611006
HGNC: 28660
Ensembl: ENSG00000135070

Variants:

dbSNP: 81689
ClinVar: 81689
TCGA: ENSG00000135070
COSMIC: ISCA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135070ENST00000311534Q5TBE2
ENSG00000135070ENST00000326094Q5TBE9
ENSG00000135070ENST00000375991Q9BUE6
ENSG00000135070ENST00000637705A0A1B0GTK6

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
196564902009Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis.77
223232892012The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation.56
242172462013Frataxin directly stimulates mitochondrial cysteine desulfurase by exposing substrate-binding sites, and a mutant Fe-S cluster scaffold protein with frataxin-bypassing ability acts similarly.38
247339262014[2Fe-2S] cluster transfer in iron-sulfur protein biogenesis.28
198644222009Human ISCA1 interacts with IOP1/NARFL and functions in both cytosolic and mitochondrial iron-sulfur protein biogenesis.23
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
152622272004hIscA: a protein implicated in the biogenesis of iron-sulfur clusters.13
203025702010Iron-binding activity of human iron-sulfur cluster assembly protein hIscA1.13
283565632017Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.13
286156752017A commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.1

Citation

Dessen P

ISCA1 (iron-sulfur cluster assembly 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64667/isca1