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ISCU

GENERAL INFORMATION

Gene name

 ISCU

Gene description

 Iron-sulfur cluster assembly enzyme

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 6
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 3 antibodies.
HPA038602 , HPA057592 , CAB006329
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 ISCU (HGNC Symbol)

Synonyms

 hnifU, IscU, ISU2, NIFUN

Description

 Iron-sulfur cluster assembly enzyme (HGNC Symbol)

Entrez gene summary

 Iron-sulfur (Fe-S) clusters are necessary for several mitochondrial enzymes and other subcellular compartment proteins. They contain sulfur and iron, and are created via several steps that include cysteine desulfurases, iron donors, chaperones, and scaffold proteins. This gene encodes the two isomeric forms, ISCU1 and ISCU2, of the Fe-S cluster scaffold protein. Mutations in this gene have been found in patients with myopathy with severe exercise intolerance and myoglobinuria. A pseudogene of this gene is present on chromosome 1. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]

Chromosome

 12

Cytoband

 q23.3

Chromosome location (bp)

 108562582 - 108569384

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000136003 (version 83.38)

Entrez gene

 23479

UniProt

 Q9H1K1 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9H1K1

Antibodypedia

 ISCU antibodies

PROTEIN BROWSER
ISCU-001
ISCU-003
ISCU-004
ISCU-006
ISCU-007
ISCU-012

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ISCU-001
ENSP00000310623
ENST00000311893
Q9H1K1 [Direct mapping]
Iron-sulfur cluster assembly enzyme ISCU, mitochondrial
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506 [iron ion binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0005829 [cytosol]
GO:0006879 [cellular iron ion homeostasis]
GO:0008198 [ferrous iron binding]
GO:0009399 [nitrogen fixation]
GO:0016226 [iron-sulfur cluster assembly]
GO:0032947 [protein complex scaffold]
GO:0036455 [iron-sulfur transferase activity]
GO:0044281 [small molecule metabolic process]
GO:0044571 [[2Fe-2S] cluster assembly]
GO:0051536 [iron-sulfur cluster binding]
GO:0051537 [2 iron, 2 sulfur cluster binding]
GO:0051539 [4 iron, 4 sulfur cluster binding]
GO:0097428 [protein maturation by iron-sulfur cluster transfer]
Show all
 167 aa
18 kDa 		No 0
ISCU-003
ENSP00000445598
ENST00000535729
B4DNC9 [Direct mapping]
Iron-sulfur cluster assembly enzyme ISCU, mitochondrial; cDNA FLJ51257, highly similar to NifU-like N-terminal domain-containing protein, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506 [iron ion binding]
GO:0005759 [mitochondrial matrix]
GO:0006879 [cellular iron ion homeostasis]
GO:0008198 [ferrous iron binding]
GO:0016226 [iron-sulfur cluster assembly]
GO:0036455 [iron-sulfur transferase activity]
GO:0044571 [[2Fe-2S] cluster assembly]
GO:0051536 [iron-sulfur cluster binding]
GO:0051537 [2 iron, 2 sulfur cluster binding]
GO:0051539 [4 iron, 4 sulfur cluster binding]
GO:0097428 [protein maturation by iron-sulfur cluster transfer]
Show all
 154 aa
16.6 kDa 		No 0
ISCU-004
ENSP00000411108
ENST00000431221
B3KQ30 [Direct mapping]
Iron-sulfur cluster assembly enzyme ISCU, mitochondrial; cDNA FLJ32689 fis, clone TESTI2000207, highly similar to NifU-like N-terminal domain-containing protein, mitochondrial
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506 [iron ion binding]
GO:0005759 [mitochondrial matrix]
GO:0006879 [cellular iron ion homeostasis]
GO:0008198 [ferrous iron binding]
GO:0016226 [iron-sulfur cluster assembly]
GO:0036455 [iron-sulfur transferase activity]
GO:0044571 [[2Fe-2S] cluster assembly]
GO:0051536 [iron-sulfur cluster binding]
GO:0051537 [2 iron, 2 sulfur cluster binding]
GO:0051539 [4 iron, 4 sulfur cluster binding]
GO:0097428 [protein maturation by iron-sulfur cluster transfer]
Show all
 156 aa
16.9 kDa 		No 0
ISCU-006
ENSP00000376554
ENST00000392807
Q9H1K1 [Direct mapping]
Iron-sulfur cluster assembly enzyme ISCU, mitochondrial
A0A024RBI3 [Target identity:100%; Query identity:100%]
NifU-like N-terminal domain containing, isoform CRA_c
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506 [iron ion binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0005829 [cytosol]
GO:0006879 [cellular iron ion homeostasis]
GO:0008198 [ferrous iron binding]
GO:0009399 [nitrogen fixation]
GO:0016226 [iron-sulfur cluster assembly]
GO:0032947 [protein complex scaffold]
GO:0036455 [iron-sulfur transferase activity]
GO:0044281 [small molecule metabolic process]
GO:0044571 [[2Fe-2S] cluster assembly]
GO:0051536 [iron-sulfur cluster binding]
GO:0051537 [2 iron, 2 sulfur cluster binding]
GO:0051539 [4 iron, 4 sulfur cluster binding]
GO:0097428 [protein maturation by iron-sulfur cluster transfer]
Show all
 142 aa
15.3 kDa 		No 0
ISCU-007
ENSP00000443272
ENST00000539593
F5H5N2 [Direct mapping]
Iron-sulfur cluster assembly enzyme ISCU, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506 [iron ion binding]
GO:0005759 [mitochondrial matrix]
GO:0006879 [cellular iron ion homeostasis]
GO:0008198 [ferrous iron binding]
GO:0016226 [iron-sulfur cluster assembly]
GO:0036455 [iron-sulfur transferase activity]
GO:0044571 [[2Fe-2S] cluster assembly]
GO:0051536 [iron-sulfur cluster binding]
GO:0051537 [2 iron, 2 sulfur cluster binding]
GO:0051539 [4 iron, 4 sulfur cluster binding]
GO:0097428 [protein maturation by iron-sulfur cluster transfer]
Show all
 154 aa
16.6 kDa 		No 0
ISCU-012
ENSP00000446606
ENST00000547005
B4DNC9 [Direct mapping]
Iron-sulfur cluster assembly enzyme ISCU, mitochondrial; cDNA FLJ51257, highly similar to NifU-like N-terminal domain-containing protein, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506 [iron ion binding]
GO:0005759 [mitochondrial matrix]
GO:0006879 [cellular iron ion homeostasis]
GO:0008198 [ferrous iron binding]
GO:0016226 [iron-sulfur cluster assembly]
GO:0036455 [iron-sulfur transferase activity]
GO:0044571 [[2Fe-2S] cluster assembly]
GO:0051536 [iron-sulfur cluster binding]
GO:0051537 [2 iron, 2 sulfur cluster binding]
GO:0051539 [4 iron, 4 sulfur cluster binding]
GO:0097428 [protein maturation by iron-sulfur cluster transfer]
Show all
 154 aa
16.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.