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Timm8a1 Gene Detail
Summary
  • Symbol
    Timm8a1
  • Name
    translocase of inner mitochondrial membrane 8A1
  • Synonyms
    Ddp1, DXHXS1274E, Fci-12, Tim8a
  • Feature Type
    protein coding gene
  • IDs
    MGI:1353433
    NCBI Gene: 30058
  • Gene Overview
    MyGene.info: TIMM8A
Location & Maps
more
  • Sequence Map
    ChrX:134537256-134541865 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      4610 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 56.18 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    TIMM8A, translocase of inner mitochondrial membrane 8 homolog A (yeast)
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TIMM8A, translocase of inner mitochondrial membrane 8 homolog A (yeast)
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DDP, DDP1, DFN1, MTS, TIM8
  • Links
    NCBI Gene ID: 1678
    neXtProt AC: NX_O60220

  • Chr Location
    Xq22.1; chrX:101345656-101348969 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human TIMM8A associations

Human Disease Mouse Models
       Mohr-Tranebjaerg Syndrome; MTS   OMIM: 304700
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    2 phenotype references
  • All Mutations and Alleles
    3
  • Gene trapped
    2
  • Targeted
    1
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019308 VEGA Gene Model | MGI Sequence Detail 4610 C57BL/6J ±  kb
transcript OTTMUST00000046139 VEGA | MGI Sequence Detail 1421 Not Applicable  
polypeptide OTTMUSP00000020835 VEGA | MGI Sequence Detail 97 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    24 from dbSNP Build 142
Protein
Information
less
  • Protein Ontology
    PR:000029794 mitochondrial import inner membrane translocase subunit Tim8 A
Molecular
Reagents
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  • All nucleic 67
    Genomic 1
    cDNA 65
    Other 1

    Microarray probesets 5
Other
Accession IDs
less
MGI:1201786
References
more
  • Summaries
    All 31
    Developmental Gene Expression 2
    Gene Ontology 4
    Phenotypes 2
  • Earliest
    J:39674 Oeltjen JC, et al., Large-scale comparative sequence analysis of the human and murine Bruton's tyrosine kinase loci reveals conserved regulatory domains. Genome Res. 1997 Apr;7(4):315-29
  • Latest
    J:179027 Engl G, et al., Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology. Hum Mol Genet. 2012 Jan 15;21(2):287-99

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory