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    Timm8a1 translocase of inner mitochondrial membrane 8A1 [ Mus musculus (house mouse) ]

    Gene ID: 30058, updated on 26-Sep-2022

    Summary

    Official Symbol
    Timm8a1provided by MGI
    Official Full Name
    translocase of inner mitochondrial membrane 8A1provided by MGI
    Primary source
    MGI:MGI:1353433
    See related
    Ensembl:ENSMUSG00000048007 AllianceGenome:MGI:1353433
    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
    Ddp1; Tim8a; Fci-12; Timm8a; DXHXS1274E
    Summary
    Predicted to enable identical protein binding activity and zinc ion binding activity. Predicted to be involved in protein targeting to mitochondrion. Predicted to act upstream of or within protein transport. Located in mitochondrion. Is expressed in cap mesenchyme; early tubule; lung mesenchyme; and renal interstitium. Human ortholog(s) of this gene implicated in deafness-dystonia-optic neuronopathy syndrome and dystonia. Orthologous to human TIMM8A (translocase of inner mitochondrial membrane 8A). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in liver E14 (RPKM 23.0), liver E18 (RPKM 20.3) and 27 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Timm8a1 in Genome Data Viewer
    Location:
    X E3; X 56.18 cM
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) X NC_000086.8 (133438005..133442419, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (134537256..134541670, complement)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 23124 Neighboring gene osteoclast-stimulating factor 1 pseudogene Neighboring gene Bruton agammaglobulinemia tyrosine kinase Neighboring gene ribosomal protein L36A

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables zinc ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in protein targeting to mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial intermembrane space ISO
    Inferred from Sequence Orthology
    more info
     
    part_of mitochondrial intermembrane space protein transporter complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    mitochondrial import inner membrane translocase subunit Tim8 A
    Names
    deafness dystonia protein 1 homolog
    translocase of inner mitochondrial membrane 8 homolog a
    translocase of inner mitochondrial membrane 8 homolog a1

    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.

    mRNA and Protein(s)

    1. NM_013898.3NP_038926.1  mitochondrial import inner membrane translocase subunit Tim8 A

      See identical proteins and their annotated locations for NP_038926.1

      Status: VALIDATED

      Source sequence(s)
      BC094631, BY093108
      Consensus CDS
      CCDS41122.1
      UniProtKB/Swiss-Prot
      Q542E5, Q9WVA2
      UniProtKB/TrEMBL
      A0A8C6MN98
      Related
      ENSMUSP00000050156.5, ENSMUST00000054213.5
      Conserved Domains (1) summary
      pfam02953
      Location:2181
      zf-Tim10_DDP; Tim10/DDP family zinc finger

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      133438005..133442419 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)