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FLASH GENE
Symbol TIMM8A contributors: mct - updated : 24-12-2013
HGNC name translocase of inner mitochondrial membrane 8 homolog A (yeast)
HGNC id 11817
Corresponding disease
ADS ataxia-dementia syndrome
DDOA deafness-dystonia-optic atrophy syndrome
JS opticoacoustic nerve atrophy with dementia
Location Xq22.1      Physical location : 100.600.643 - 100.603.957
Synonym name
  • deafness and dystonia peptide
  • X-linked deafness dystonia protein
  • mitochondrial import inner membrane translocase subunit Tim8 A
  • Synonym symbol(s) DDP, MT1, TIM8A, DXS1274E, MTS, DDP1, DFN1, DDTS, TIM8
    DNA
    TYPE functioning gene
    STRUCTURE 28.41 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC392507 X similar to HSPC129 protein LOC158656 Xq22.1 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) (Colon carcinoma laminin-binding protein) (NEM/1CHD4) (Multidrug resistance-associated protein MGr1-Ag) PCDH19 Xq13.3 protocadherin 19 TNMD Xq21.33-q23 protocadherin 19 TM4SF6 Xq22 transmembrane 4 superfamily member 6 SRPUL Xq21.33-q23 sushi-repeat protein SYTL4 Xq21.33 synaptotagmin-like 4 (granuphilin-a) LOC392508 X similar to Double-strand-break repair protein rad21 homolog (hHR21) (Nuclear matrix protein 1) (NXP-1) (SCC1 homolog) CSTF2 Xq22.2-q22.3 cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa NOX1 Xq22 NADPH oxidase 1 LOC389877 X similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP-1) (Topoisomerase-inhibitor suppressed) LOC347424 Xq22.1 similar to TGF beta-inducible nuclear protein 1 (Hairy cell leukemia protein 1) (HUSSY-29) LOC286453 Xq22.1 similar to dJ341D10.1 (novel protein) LOC392509 X similar to hypothetical protein DKFZp761H079 isoform 1 FLJ12687 Xq22.1 hypothetical protein FLJ12687 FLJ14084 Xq22.1 hypothetical protein FLJ14084 FSHPRH1 Xq22 FSH primary response (LRPR1 homolog, rat) 1 LOC392510 X similar to 14-3-3 protein tau (14-3-3 protein theta) DRP2 Xq22 dystrophin related protein 2 TAF7L Xq22.1 TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa TIMM8A Xq22.1 translocase of inner mitochondrial membrane 8 homolog A (yeast) BTK Xq22.1-q22.2 Bruton agammaglobulinemia tyrosine kinase RPL36A Xq26.3-q27.3 ribosomal protein L36a GLA Xq22.11 galactosidase, alpha HNRPH2 Xq21.3-q22 heterogeneous nuclear ribonucleoprotein H2 (H') LOC389878 X LOC389878 MGC40053 Xq22.1 hypothetical protein MGC40053 LOC158948 Xq22.1 protein kinase C, iota pseudogene ALEX1 Xq21.33-q22.2 protein kinase C, iota pseudogene FLJ20811 Xq21.33-q22.3 hypothetical protein FLJ20811 ALEX3 Xq21.33-q22.2 ALEX3 protein ALEX2 Xq21.33-q22.2 ALEX2 protein GKP6 Xq22-q23 glycerol kinase pseudogene 6 NXF5 Xq22 nuclear RNA export factor 5 KIAA1789 Xq21 KIAA1789 protein my048 Xq22.1-q22.3 my048 protein LOC158931 Xq22.1 similar to hypothetical protein MGC15737 LOC340542 Xq22.1 hypothetical protein LOC340542 NXF2 Xq22-q23 nuclear RNA export factor 2 TMSNB Xq21.33-q22.3 thymosin, beta, identified in neuroblastoma cells LOC139707 Xq22.1 similar to checkpoint suppressor 1 NXF4 Xq22 nuclear RNA export factor 4 FLJ12969 Xq22.1-q22.3 hypothetical protein FLJ12969 GASP Xq22.1 G protein-coupled receptor-associated sorting protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 569 5.18 48 - -
    2 - 1459 10.9 97 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text highly, in brain and lowly in liver and kidney
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a largely alpha-helical structure, one on the N terminal region terminated by two cysteine residues, one central comprising two cysteine residues
  • a third one and separated from each other by random coil and suggesting a hairpin of helices held together by the cysteine coodination of the Zn2+ ion
  • conjugated
    HOMOLOGY
    interspecies ortholog to murine Timm8a
    homolog to yeast,translocase of inner mitochondrial protein 8,A
    ortholog to yeast S.cerevisiae Tim8p
    intraspecies paralog to TIM8B
    Homologene
    FAMILY
  • mitochondrial intermembrane proteins family
  • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,interspace
    text intermembrane transport in mitochondria
    basic FUNCTION
  • involved in the import of metabolite transporters from the cytoplasm into the mitochondrial inner membrane
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , nervous system , mitochondrial transport , neurogenesis
    text putatively involved in neurologic development
    PATHWAY
    metabolism
    signaling
    a component
  • component of the TIM complex
  • TIM22 protein import pathway consists of two intermembrane space chaperone complexes, the TIMM9-TIMM10 and TIMM8A-TIMM13 complexes (Hasson 2010)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interactig with SLC25A12 and SLC25A13 (substrates for the TIMM8A/TIMM13 complex)
  • interacting with STAM in the cytoplasm or at the mitochondrial outer membrane
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ADS , JS , DDOA
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS