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    NFU1 NFU1 iron-sulfur cluster scaffold [ Homo sapiens (human) ]

    Gene ID: 27247, updated on 17-Jun-2019

    Summary

    Official Symbol
    NFU1provided by HGNC
    Official Full Name
    NFU1 iron-sulfur cluster scaffoldprovided by HGNC
    Primary source
    HGNC:HGNC:16287
    See related
    Ensembl:ENSG00000169599 MIM:608100
    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
    Nfu; NifU; HIRIP; MMDS1; NIFUC; CGI-33; HIRIP5
    Summary
    This gene encodes a protein that is localized to mitochondria and plays a critical role in iron-sulfur cluster biogenesis. The encoded protein assembles and transfers 4Fe-4S clusters to target apoproteins including succinate dehydrogenase and lipoic acid synthase. Mutations in this gene are a cause of multiple mitochondrial dysfunctions syndrome-1, and pseudogenes of this gene are located on the short arms of chromosomes 1 and 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
    Expression
    Ubiquitous expression in fat (RPKM 30.5), kidney (RPKM 17.0) and 25 other tissues See more
    Orthologs

    Genomic context

    See NFU1 in Genome Data Viewer
    Location:
    2p13.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (69395750..69439649, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (69623245..69664760, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene golgi reassembly stacking protein 2, 55kDa pseudogene Neighboring gene glutamine--fructose-6-phosphate transaminase 1 Neighboring gene uncharacterized protein FLJ45252 Neighboring gene AP2 associated kinase 1 Neighboring gene RNA, 7SL, cytoplasmic 604, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Pol gag-pol HIV-1 Pol is identified to have a physical interaction with iron-sulfur cluster scaffold homolog (NFU1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with NFU1 iron-sulfur cluster scaffold homolog (NFU1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC142252, MGC142254

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    4 iron, 4 sulfur cluster binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    4 iron, 4 sulfur cluster binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    iron ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    iron ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    iron-sulfur cluster assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    iron-sulfur cluster assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein maturation by iron-sulfur cluster transfer IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    NFU1 iron-sulfur cluster scaffold homolog, mitochondrial
    Names
    HIRA-interacting protein 5
    NifU-like C-terminal domain containing
    iron-sulfur cluster scaffold protein

    NCBI Reference Sequences (RefSeq)

    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_031931.1 RefSeqGene

      Range
      5001..46516
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001002755.3NP_001002755.1  NFU1 iron-sulfur cluster scaffold homolog, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_001002755.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an upstream, in-frame start codon, compared to variant 1. The encoded isoform (2) has a longer N-terminus, compared to isoform 1.
      Source sequence(s)
      AC114772, AI129426, BC113692
      Consensus CDS
      CCDS33217.1
      UniProtKB/Swiss-Prot
      Q9UMS0
      Related
      ENSP00000387219.2, ENST00000410022.6
      Conserved Domains (2) summary
      smart00932
      Location:61148
      Nfu_N; Scaffold protein Nfu/NifU N terminal
      pfam01106
      Location:173239
      NifU; NifU-like domain
    2. NM_001002756.2NP_001002756.1  NFU1 iron-sulfur cluster scaffold homolog, mitochondrial isoform 3

      See identical proteins and their annotated locations for NP_001002756.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal exon and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AI129426, BG385940, BM846341, BU507991, DB496651
      Consensus CDS
      CCDS42694.1
      UniProtKB/Swiss-Prot
      Q9UMS0
      Related
      ENSP00000377842.1, ENST00000394305.5
      Conserved Domains (1) summary
      pfam01106
      Location:3298
      NifU; NifU-like domain
    3. NM_015700.4NP_056515.2  NFU1 iron-sulfur cluster scaffold homolog, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_056515.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
      Source sequence(s)
      AC114772, AI129426, AY286307
      Consensus CDS
      CCDS46315.1
      UniProtKB/Swiss-Prot
      Q9UMS0
      Related
      ENSP00000306965.3, ENST00000303698.7
      Conserved Domains (2) summary
      smart00932
      Location:37124
      Nfu_N; Scaffold protein Nfu/NifU N terminal
      pfam01106
      Location:149215
      NifU; NifU-like domain

    RNA

    1. NR_045631.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site and lacks an internal exon in the 5' region, compared to variant 1. 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).
      Source sequence(s)
      AI129426, BM846341, BU178674, DB496651
    2. NR_045632.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 5' region and lacks two internal exons, compared to variant 1. 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).
      Source sequence(s)
      AI129426, AK308567, BM846341, DB496651

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      69395750..69439649 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017003808.2XP_016859297.1  NFU1 iron-sulfur cluster scaffold homolog, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q9UMS0
      Conserved Domains (2) summary
      smart00932
      Location:37124
      Nfu_N; Scaffold protein Nfu/NifU N terminal
      pfam01106
      Location:149215
      NifU; NifU-like domain

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001002757.1: Suppressed sequence

      Description
      NM_001002757.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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