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    IBA57 iron-sulfur cluster assembly factor IBA57 [ Homo sapiens (human) ]

    Gene ID: 200205, updated on 4-Jul-2021

    Summary

    Official Symbol
    IBA57provided by HGNC
    Official Full Name
    iron-sulfur cluster assembly factor IBA57provided by HGNC
    Primary source
    HGNC:HGNC:27302
    See related
    Ensembl:ENSG00000181873 MIM:615316
    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
    MMDS3; SPG74; C1orf69
    Summary
    The protein encoded by this gene localizes to the mitochondrion and is part of the iron-sulfur cluster assembly pathway. The encoded protein functions late in the biosynthesis of mitochondrial 4Fe-4S proteins. Defects in this gene have been associated with autosomal recessive spastic paraplegia-74 and with multiple mitochondrial dysfunctions syndrome-3. Two transcript variants encoding different isoforms have been found for this gene. The smaller isoform is not likely to be localized to the mitochondrion since it lacks the amino-terminal transit peptide. [provided by RefSeq, Jul 2015]
    Expression
    Ubiquitous expression in kidney (RPKM 1.9), bone marrow (RPKM 1.8) and 25 other tissues See more
    Orthologs
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    Genomic context

    See IBA57 in Genome Data Viewer
    Location:
    1q42.13
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (228165804..228182257)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (228353505..228369958)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene gap junction protein gamma 2 Neighboring gene IBA57 divergent transcript Neighboring gene OBSCN antisense RNA 1 Neighboring gene obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF Neighboring gene Sharpr-MPRA regulatory region 4086

    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 Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ12734, FLJ13849

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in heme biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in iron-sulfur cluster assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    putative transferase CAF17, mitochondrial
    Names
    IBA57 homolog, iron-sulfur cluster assembly
    IBA57, iron-sulfur cluster assembly homolog
    iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa
    putative transferase C1orf69, mitochondrial

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_042231.1 RefSeqGene

      Range
      4997..21450
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001010867.4NP_001010867.1  putative transferase CAF17, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_001010867.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL359510, BI820993, HY081013
      Consensus CDS
      CCDS31046.1
      UniProtKB/Swiss-Prot
      Q5T440
      Related
      ENSP00000355672.3, ENST00000366711.4
      Conserved Domains (4) summary
      COG0354
      Location:41353
      YgfZ; Folate-binding Fe-S cluster repair protein YgfZ, possible role in tRNA modification [Posttranslational modification, protein turnover, chaperones]
      TIGR03317
      Location:217284
      ygfZ_signature; folate-binding protein YgfZ
      pfam08669
      Location:258350
      GCV_T_C; Glycine cleavage T-protein C-terminal barrel domain
      cl01893
      Location:59163
      GCV_T; Aminomethyltransferase folate-binding domain
    2. NM_001310327.2NP_001297256.1  putative transferase CAF17, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_001297256.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate first exon and initiates translation from a downstream in-frame start codon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AK303837, AL359510
      UniProtKB/TrEMBL
      B4E1G9
      Conserved Domains (2) summary
      COG0354
      Location:16160
      YgfZ; Folate-binding Fe-S cluster repair protein YgfZ, possible role in tRNA modification [Posttranslational modification, protein turnover, chaperones]
      TIGR03317
      Location:2491
      ygfZ_signature; folate-binding protein YgfZ

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      228165804..228182257
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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