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

    Gene ID: 23479, updated on 6-Dec-2016
    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]
    Orthologs
    Location:
    12q23.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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

    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
     
    4 iron, 4 sulfur cluster binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    ferrous iron binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    iron ion binding TAS
    Traceable Author Statement
    more info
    PubMed 
    iron-sulfur transferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein complex scaffold IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    [2Fe-2S] cluster assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cellular iron ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    iron-sulfur cluster assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    nitrogen fixation TAS
    Traceable Author Statement
    more info
    PubMed 
    protein maturation by iron-sulfur cluster transfer IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    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
     
    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, OTTHUMP00000241075, ENST00000547005, 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, OTTHUMP00000238761, ENST00000431221, 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, OTTHUMP00000238760, ENST00000535729, 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, OTTHUMP00000238764, ENST00000392807, 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, OTTHUMP00000238762, ENST00000311893, 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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011538100.2XP_011536402.1  

      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  

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      108921458..108929380
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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