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    Iba57 IBA57 homolog, iron-sulfur cluster assembly [ Mus musculus (house mouse) ]

    Gene ID: 216792, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Iba57provided by MGI
    Official Full Name
    IBA57 homolog, iron-sulfur cluster assemblyprovided by MGI
    Primary source
    MGI:MGI:3041174
    See related
    Ensembl:ENSMUSG00000049287 AllianceGenome:MGI:3041174
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    C1orf69; 4930543L23Rik; A230051G13Rik
    Summary
    Predicted to enable transferase activity. Predicted to be involved in iron-sulfur cluster assembly. Predicted to act upstream of or within heme biosynthetic process. Located in mitochondrion. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 74 and multiple mitochondrial dysfunctions syndrome 3. Orthologous to human IBA57 (iron-sulfur cluster assembly factor IBA57). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 6.5), liver E14.5 (RPKM 4.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    11 B1.3; 11 36.97 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (59046194..59055391, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (59155368..59164567, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 2310058D17 gene Neighboring gene STARR-seq mESC enhancer starr_29613 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:58796334-58796535 Neighboring gene tripartite motif-containing 11 Neighboring gene obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF Neighboring gene predicted gene 10435 Neighboring gene STARR-seq mESC enhancer starr_29614 Neighboring gene STARR-positive B cell enhancer ABC_E5231 Neighboring gene STARR-seq mESC enhancer starr_29616 Neighboring gene STARR-positive B cell enhancer ABC_E6990 Neighboring gene gap junction protein, gamma 2 Neighboring gene guanylate kinase 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. A role for tetrahydrofolates in the metabolism of iron-sulfur clusters in all domains of life. Waller JC, et al. Proc Natl Acad Sci U S A, 2010 Jun 8. PMID 20489182, Free PMC Article
    2. Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis. Nilsson R, et al. Cell Metab, 2009 Aug. PMID 19656490, Free PMC Article
    3. A comparison of whole-genome shotgun-derived mouse chromosome 16 and the human genome. Mural RJ, et al. Science, 2002 May 31. PMID 12040188
    4. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article
    5. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mouse COG0354 represents an ancient, folate-dependent protein family involved in the metabolism of Fe/S cluster containing enzymes
      Title: A role for tetrahydrofolates in the metabolism of iron-sulfur clusters in all domains of life.
    2. Required for functional heme biosynthesis in erythroid cells.
      Title: Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1) 
    • Endonuclease-mediated (2) 

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within 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
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    putative transferase CAF17 homolog, mitochondrial
    Names
    IBA57, iron-sulfur cluster assembly homolog
    iron-sulfur cluster assembly factor homolog
    putative transferase C1orf69 homolog, mitochondrial

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001270791.1 → NP_001257720.1  putative transferase CAF17 homolog, mitochondrial isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains alternate 3' exon structure and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL645854, AW488265, BM935743
      UniProtKB/TrEMBL
      B2FDE8
      Related
      ENSMUSP00000114501.2, ENSMUST00000137433.2
      Conserved Domains (1) summary
      cl01893
      Location:59 → 115
      GCV_T; Aminomethyltransferase folate-binding domain

    2. NM_173785.6 → NP_776146.1  putative transferase CAF17 homolog, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_776146.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK133203, AL645854
      Consensus CDS
      CCDS24758.1
      UniProtKB/Swiss-Prot
      Q3T9H1, Q8CAK1
      Related
      ENSMUSP00000049823.6, ENSMUST00000054523.6
      Conserved Domains (4) summary
      COG0354
      Location:53 → 352
      YgfZ; Folate-binding Fe-S cluster repair protein YgfZ, possible role in tRNA modification [Posttranslational modification, protein turnover, chaperones]
      TIGR03317
      Location:218 → 285
      ygfZ_signature; folate-binding protein YgfZ
      pfam08669
      Location:259 → 352
      GCV_T_C; Glycine cleavage T-protein C-terminal barrel domain
      cl01893
      Location:59 → 164
      GCV_T; Aminomethyltransferase folate-binding domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      59046194..59055391 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011248904.4 → XP_011247206.1  putative transferase CAF17 homolog, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011247206.1

      Conserved Domains (1) summary
      COG0354
      Location:1 → 210
      YgfZ; Folate-binding Fe-S cluster repair protein YgfZ, possible role in tRNA modification [Posttranslational modification, protein turnover, chaperones]

    2. XM_011248903.4 → XP_011247205.1  putative transferase CAF17 homolog, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011247205.1

      Conserved Domains (1) summary
      COG0354
      Location:1 → 210
      YgfZ; Folate-binding Fe-S cluster repair protein YgfZ, possible role in tRNA modification [Posttranslational modification, protein turnover, chaperones]

    3. XM_017314449.3 → XP_017169938.1  putative transferase CAF17 homolog, mitochondrial isoform X1

      Conserved Domains (1) summary
      COG0354
      Location:1 → 210
      YgfZ; Folate-binding Fe-S cluster repair protein YgfZ, possible role in tRNA modification [Posttranslational modification, protein turnover, chaperones]

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_183110.1: Suppressed sequence

      Description
      NM_183110.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CAK1.1 GenPept UniProtKB/Swiss-Prot:Q8CAK1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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