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

Gene ID: 1678, updated on 3-Mar-2019

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
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

Genomic context

See TIMM8A in Genome Data Viewer
Location:
Xq22.1
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (101345656..101348969, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (100575548..100603957, 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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mohr-Tranebjaerg syndrome Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-05-17)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-05-17)

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 BioSystems

  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Mitochondrial protein import, organism-specific biosystem (from REACTOME)
    Mitochondrial protein import, organism-specific biosystemA human mitochondrion contains about 1500 proteins, more than 99% of which are encoded in the nucleus, synthesized in the cytosol and imported into the mitochondrion. Proteins are targeted to four lo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC12262

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
chaperone-mediated protein transport TAS
Traceable Author Statement
more info
PubMed 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial intermembrane space IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion HDA PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 

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)

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
    5001..8314
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145951.1NP_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)
    BM467820, BQ013177
    Consensus CDS
    CCDS87768.1
    Related
    ENSP00000495469.1, ENST00000480575.2
    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
    O60220
    Related
    ENSP00000361993.3, ENST00000372902.3
    Conserved Domains (1) summary
    pfam02953
    Location:2181
    zf-Tim10_DDP; Tim10/DDP family zinc finger

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    101345656..101348969 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.
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