Format

Send to:

Choose Destination

ISCU iron-sulfur cluster assembly enzyme [ Homo sapiens (human) ]

Gene ID: 23479, updated on 8-Jul-2018
Official Symbol
ISCUprovided by HGNC
Official Full Name
iron-sulfur cluster assembly enzymeprovided by HGNC
Primary source
HGNC:HGNC:29882
See related
Ensembl:ENSG00000136003 MIM:611911; Vega:OTTHUMG00000168420
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HML; ISU2; NIFU; NIFUN; hnifU; 2310020H20Rik
Summary
This gene encodes a component of the iron-sulfur (Fe-S) cluster scaffold. Fe-S clusters are cofactors that play a role in the function of a diverse set of enzymes, including those that regulate metabolism, iron homeostasis, and oxidative stress response. Alternative splicing results in transcript variants encoding different protein isoforms that localize either to the cytosol or to the mitochondrion. Mutations in this gene have been found in patients with hereditary myopathy with lactic acidosis. A disease-associated mutation in an intron may activate a cryptic splice site, resulting in the production of a splice variant encoding a putatively non-functional protein. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Feb 2016]
Expression
Ubiquitous expression in adrenal (RPKM 47.9), heart (RPKM 43.2) and 25 other tissues See more
Orthologs
See ISCU in Genome Data Viewer
Location:
12q23.3
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (108561463..108569384)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (108955239..108963160)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene FIC domain containing Neighboring gene squamous cell carcinoma antigen recognized by T cells 3 Neighboring gene transmembrane protein 119 Neighboring gene uncharacterized LOC105369968 Neighboring gene selectin P ligand

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Myopathy with lactic acidosis, hereditary Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA Catalog
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Mitochondrial iron-sulfur cluster biogenesis, organism-specific biosystem (from REACTOME)
    Mitochondrial iron-sulfur cluster biogenesis, organism-specific biosystemIron-sulfur (Fe-S) proteins are localized in the cytosol, nucleus, and mitochondria of mammalian cells (reviewed in Stemmler et al. 2010, Rouault 2012, Bandyopadhyay et al. 2008, Lill 2009, Lill et a...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC74517

Gene Ontology Provided by GOA

Function Evidence Code Pubs
2 iron, 2 sulfur cluster binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
4 iron, 4 sulfur cluster binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ferrous iron binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
iron ion binding TAS
Traceable Author Statement
more info
PubMed 
iron-sulfur transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex scaffold activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cellular iron ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
iron-sulfur cluster assembly TAS
Traceable Author Statement
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleus TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
iron-sulfur cluster assembly enzyme ISCU, mitochondrial
Names
IscU iron-sulfur cluster scaffold homolog
nifU-like N-terminal domain-containing protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011857.1 RefSeqGene

    Range
    3946..11867
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001301140.1NP_001288069.1  iron-sulfur cluster assembly enzyme ISCU, mitochondrial isoform 3 precursor

    See identical proteins and their annotated locations for NP_001288069.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate exon in the 3' region, resulting in a different 3' coding region and 3' UTR, compared to variant 2. Variants 3 and 5 encode the same protein (isoform 3), which has a distinct, shorter C-terminus, compared to isoform 2. Isoform 3 may not be stable (PMID:23035118). This variant may be preferentially produced in individuals containing an alternate intronic C vs G (rs767000507), which activates a cryptic splice acceptor site. The alternate C allele is associated with myopathy (PMIDs 18296749, 18304497).
    Source sequence(s)
    AK057251, BG702203, BQ020993
    Consensus CDS
    CCDS76597.1
    UniProtKB/TrEMBL
    B3KQ30, B4DNC9
    Related
    ENSP00000446606.1, OTTHUMP00000241075, ENST00000547005.5, OTTHUMT00000404008
    Conserved Domains (1) summary
    cl00528
    Location:35139
    IscU_like; Iron-sulfur cluster scaffold-like proteins
  2. NM_001301141.1NP_001288070.1  iron-sulfur cluster assembly enzyme ISCU, mitochondrial isoform 4 precursor

    See identical proteins and their annotated locations for NP_001288070.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate exon in the 3' region, resulting in a different 3' coding region and 3' UTR, compared to variant 2. The encoded isoform (4) has a distinct, shorter C-terminus, compared to isoform 2.
    Source sequence(s)
    AC008119, AK057251, BQ020993
    Consensus CDS
    CCDS73518.1
    UniProtKB/TrEMBL
    B3KQ30
    Related
    ENSP00000411108.2, OTTHUMP00000238761, ENST00000431221.6, OTTHUMT00000399692
    Conserved Domains (1) summary
    cl00528
    Location:35139
    IscU_like; Iron-sulfur cluster scaffold-like proteins
  3. NM_001320042.1NP_001306971.1  iron-sulfur cluster assembly enzyme ISCU, mitochondrial isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the 3' region, resulting in a different 3' coding region and 3' UTR, compared to variant 2. Variants 3 and 5 encode the same protein (isoform 3), which has a distinct, shorter C-terminus, compared to isoform 2. Isoform 3 may not be stable (PMID:23035118). This variant may be preferentially produced in individuals containing an alternate intronic C vs G (rs767000507), which activates a cryptic splice acceptor site. The alternate C allele is associated with myopathy (PMIDs 18296749, 18304497).
    Source sequence(s)
    AK057251, AK297862, BC061903, HY269565
    Consensus CDS
    CCDS76597.1
    UniProtKB/Swiss-Prot
    Q9H1K1
    UniProtKB/TrEMBL
    B3KQ30, B4DNC9
    Related
    ENSP00000445598.1, OTTHUMP00000238760, ENST00000535729.5, OTTHUMT00000399691
    Conserved Domains (1) summary
    cl00528
    Location:35139
    IscU_like; Iron-sulfur cluster scaffold-like proteins
  4. NM_014301.4NP_055116.1  iron-sulfur cluster assembly enzyme ISCU, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_055116.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) contains an alternate exon in the 5' region and initiates translation at an alternate start codon compared to variant 2. The encoded isoform (1) has a distinct, shorter N-terminus, compared to isoform 2. Isoform 1 is localized to the cytosol.
    Source sequence(s)
    AK057251, AY009127, BQ020993
    Consensus CDS
    CCDS9118.1
    UniProtKB/Swiss-Prot
    Q9H1K1
    UniProtKB/TrEMBL
    A0A024RBI3, B3KQ30
    Related
    ENSP00000376554.4, OTTHUMP00000238764, ENST00000392807.8, OTTHUMT00000399695
    Conserved Domains (1) summary
    PRK11325
    Location:11133
    PRK11325; scaffold protein; Provisional
  5. NM_213595.3NP_998760.1  iron-sulfur cluster assembly enzyme ISCU, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_998760.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the longest isoform (2). Isoform 2 is localized to the mitochondrion.
    Source sequence(s)
    AK057251, BC011906, BQ020993
    Consensus CDS
    CCDS44966.1
    UniProtKB/Swiss-Prot
    Q9H1K1
    UniProtKB/TrEMBL
    B3KQ30
    Related
    ENSP00000310623.9, OTTHUMP00000238762, ENST00000311893.13, OTTHUMT00000399693
    Conserved Domains (1) summary
    PRK11325
    Location:35158
    PRK11325; scaffold protein; Provisional

RNA

  1. NR_135127.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate exon in the 5' region and an alternate exon in the 3' region, compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). This variant may be preferentially produced in individuals containing an alternate intronic C vs G (rs767000507), which activates a cryptic splice acceptor site. The alternate C allele is associated with myopathy (PMIDs 18296749, 18304497).
    Source sequence(s)
    AK057251, BC061903, EU329002

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    108561463..108569384
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538100.2XP_011536402.1  iron-sulfur cluster assembly enzyme ISCU, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011536402.1

    UniProtKB/TrEMBL
    B1P7G3
    Conserved Domains (1) summary
    cl00528
    Location:11114
    IscU_like; Iron-sulfur cluster scaffold-like proteins
  2. XM_011538101.2XP_011536403.1  iron-sulfur cluster assembly enzyme ISCU, mitochondrial isoform X2

    Conserved Domains (1) summary
    cl00528
    Location:35113
    IscU_like; Iron-sulfur cluster scaffold-like proteins
Support Center