ISCU

GENERAL INFORMATION

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Gene name

ISCU

Gene description

Iron-sulfur cluster assembly enzyme

Protein class

Disease related genes
Mitochondrial proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

6
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in several tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 3 antibodies.
HPA038602 , HPA057592 , CAB006329
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

23479

UniProt

Q9H1K1 (UniProt - Evidence at protein level)

neXtProt

NX_Q9H1K1

Antibodypedia

ISCU antibodies


PROTEIN BROWSER

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ENST00000311893
 
ENST00000392807
 
ENST00000431221
 
ENST00000535729
 
ENST00000539593
 
ENST00000547005
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ISCU-001 ENSP00000310623
ENST00000311893
Q9H1K1
Show all »
Show » Show » 167 18 No 0
ISCU-003 ENSP00000445598
ENST00000535729
B4DNC9
Show all »
Show » Show » 154 16.6 No 0
ISCU-004 ENSP00000411108
ENST00000431221
B3KQ30
Show all »
Show » Show » 156 16.9 No 0
ISCU-006 ENSP00000376554
ENST00000392807
Q9H1K1
Show all »
Show » Show » 142 15.3 No 0
ISCU-007 ENSP00000443272
ENST00000539593
F5H5N2
Show all »
Show » Show » 154 16.6 No 0
ISCU-012 ENSP00000446606
ENST00000547005
B4DNC9
Show all »
Show » Show » 154 16.6 No 0