U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    TIMM8A translocase of inner mitochondrial membrane 8A [ Homo sapiens (human) ]

    Gene ID: 1678, updated on 7-Sep-2023

    Summary

    Official Symbol
    TIMM8Aprovided by HGNC
    Official Full Name
    translocase of inner mitochondrial membrane 8Aprovided by HGNC
    Primary source
    HGNC:HGNC:11817
    See related
    Ensembl:ENSG00000126953 MIM:300356; AllianceGenome:HGNC:11817
    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
    DDP; MTS; DDP1; DFN1; TIM8
    Summary
    This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2009]
    Expression
    Ubiquitous expression in liver (RPKM 4.3), kidney (RPKM 2.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TIMM8A in Genome Data Viewer
    Location:
    Xq22.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (101345661..101348742, complement)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (99789782..99792863, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (100600649..100603730, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene NANOGNB pseudogene 3 Neighboring gene ribosomal protein L21 pseudogene 132 Neighboring gene Bruton tyrosine kinase Neighboring gene RPL36A-HNRNPH2 readthrough Neighboring gene ribosomal protein L36a

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Deafness dystonia syndrome Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-03-24)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2021-03-24)

    ClinGen Genome Curation Page

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of translocase of inner mitochondrial membrane 8 homolog A (TIMM8A) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 is identified to have a physical interaction with translocase of inner mitochondrial membrane 8 homolog A (TIMM8A) 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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    General protein information

    Preferred Names
    mitochondrial import inner membrane translocase subunit Tim8 A
    Names
    X-linked deafness dystonia protein
    deafness dystonia protein 1
    deafness/dystonia peptide
    translocase of inner mitochondrial membrane 8 homolog A

    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_011734.1 RefSeqGene

      Range
      5228..8309
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145951.2NP_001139423.1  mitochondrial import inner membrane translocase subunit Tim8 A isoform 2

      See identical proteins and their annotated locations for NP_001139423.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate exon for its 3' terminus, compared to variant 1, which results in an isoform (2) with a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL035422, BM467820, BQ013177
      Consensus CDS
      CCDS87768.1
      UniProtKB/TrEMBL
      A0A2R8YDA8
      Related
      ENSP00000494385.1, ENST00000644112.2
      Conserved Domains (1) summary
      pfam02953
      Location:2144
      zf-Tim10_DDP; Tim10/DDP family zinc finger
    2. NM_004085.4NP_004076.1  mitochondrial import inner membrane translocase subunit Tim8 A isoform 1

      See identical proteins and their annotated locations for NP_004076.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AW204693, BC006994, CN410182
      Consensus CDS
      CCDS14481.1
      UniProtKB/Swiss-Prot
      B2R5A6, O60220, Q6IRW6
      Related
      ENSP00000361993.3, ENST00000372902.4
      Conserved Domains (1) summary
      pfam02953
      Location:2181
      zf-Tim10_DDP; Tim10/DDP family zinc finger

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      101345661..101348742 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      99789782..99792863 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032696.1: Suppressed sequence

      Description
      NM_032696.1: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.