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

Gene ID: 216792, updated on 18-Sep-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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See Iba57 in Genome Data Viewer
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 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)
  • Endonuclease-mediated (2) 
  • Targeted (1) 

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
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
  
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

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