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Aliases for TIMM8A Gene

Aliases for TIMM8A Gene

  • Translocase Of Inner Mitochondrial Membrane 8 Homolog A (Yeast) 2 3
  • DDP1 3 4 6
  • DDP 3 4 6
  • X-Linked Deafness Dystonia Protein 3 4
  • Deafness Dystonia Protein 1 3 4
  • DFN1 3 6
  • MTS 3 6
  • Translocase Of Inner Mitochondrial Membrane 8 (Yeast) Homolog A 2
  • Mitochondrial Import Inner Membrane Translocase Subunit Tim8 A 3
  • Deafness/Dystonia Peptide 3
  • TIM8A 4
  • TIM8 3

External Ids for TIMM8A Gene

Previous Symbols for TIMM8A Gene

  • DFN1

Summaries for TIMM8A Gene

Entrez Gene Summary for TIMM8A Gene

  • 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]

GeneCards Summary for TIMM8A Gene

TIMM8A (Translocase Of Inner Mitochondrial Membrane 8 Homolog A (Yeast)) is a Protein Coding gene. Diseases associated with TIMM8A include jensen syndrome and limb dystonia. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Mitochondrial Protein Import. An important paralog of this gene is TIMM8B.

UniProtKB/Swiss-Prot for TIMM8A Gene

  • Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins such as TIMM23, SLC25A12/ARALAR1 and SLC25A13/ARALAR2, while the predominant TIMM9-TIMM10 70 kDa complex mediates the import of much more proteins. Probably necessary for normal neurologic development.

Gene Wiki entry for TIMM8A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TIMM8A Gene

Genomics for TIMM8A Gene

Genomic Location for TIMM8A Gene

Start:
101,320,560 bp from pter
End:
101,349,196 bp from pter
Size:
28,637 bases
Orientation:
Minus strand

Genomic View for TIMM8A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TIMM8A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TIMM8A Gene

Regulatory Elements for TIMM8A Gene

Proteins for TIMM8A Gene

  • Protein details for TIMM8A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60220-TIM8A_HUMAN
    Recommended name:
    Mitochondrial import inner membrane translocase subunit Tim8 A
    Protein Accession:
    O60220
    Secondary Accessions:
    • B2R5A6
    • Q6IRW6

    Protein attributes for TIMM8A Gene

    Size:
    97 amino acids
    Molecular mass:
    10998 Da
    Quaternary structure:
    • Heterohexamer; composed of 3 copies of TIMM8A and 3 copies of TIMM13, named soluble 70 kDa complex. Associates with the TIM22 complex, whose core is composed of TIMM22

neXtProt entry for TIMM8A Gene

Proteomics data for TIMM8A Gene at MOPED

Post-translational modifications for TIMM8A Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys86 and Lys88

Other Protein References for TIMM8A Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for TIMM8A Gene

Domains for TIMM8A Gene

Protein Domains for TIMM8A Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

TIM8A_HUMAN
Domain:
  • The twin CX3C motif contains 4 conserved Cys residues that form 2 disulfide bonds in the mitochondrial intermembrane space. However, during the transit of TIMM8A from cytoplasm into mitochondrion, the Cys residues probably coordinate zinc, thereby preventing folding and allowing its transfer across mitochondrial outer membrane (By similarity).:
    • O60220
Family:
  • Belongs to the small Tim family.:
    • O60220
genes like me logo Genes that share domains with TIMM8A: view

No data available for Gene Families for TIMM8A Gene

Function for TIMM8A Gene

Molecular function for TIMM8A Gene

GENATLAS Biochemistry: translocase of inner mitochondrial protein 8 (yeast) homolog A,ubiquitously expressed,highly in the fetal brain,involved in neurological development,paralog of TIM8B,S cerevisiae Tim8p ortholog,component of the TIM complex
UniProtKB/Swiss-Prot Function: Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins such as TIMM23, SLC25A12/ARALAR1 and SLC25A13/ARALAR2, while the predominant TIMM9-TIMM10 70 kDa complex mediates the import of much more proteins. Probably necessary for normal neurologic development.

Gene Ontology (GO) - Molecular Function for TIMM8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with TIMM8A: view

Phenotypes for TIMM8A Gene

GenomeRNAi human phenotypes for TIMM8A:
genes like me logo Genes that share phenotypes with TIMM8A: view

miRNA for TIMM8A Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for TIMM8A Gene

Localization for TIMM8A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TIMM8A Gene

Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TIMM8A Gene COMPARTMENTS Subcellular localization image for TIMM8A gene
Compartment Confidence
mitochondrion 5
cytosol 3
extracellular 2
nucleus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TIMM8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005758 mitochondrial intermembrane space IDA 14726512
genes like me logo Genes that share ontologies with TIMM8A: view

Pathways for TIMM8A Gene

genes like me logo Genes that share pathways with TIMM8A: view

Pathways by source for TIMM8A Gene

2 Reactome pathways for TIMM8A Gene

Gene Ontology (GO) - Biological Process for TIMM8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006626 protein targeting to mitochondrion TAS --
GO:0007399 nervous system development TAS 8841189
GO:0044267 cellular protein metabolic process TAS --
GO:0072321 chaperone-mediated protein transport TAS 16387659
genes like me logo Genes that share ontologies with TIMM8A: view

Compounds for TIMM8A Gene

(1) Novoseek inferred chemical compound relationships for TIMM8A Gene

Compound -log(P) Hits PubMed IDs
tyrosine 1.98 2
genes like me logo Genes that share compounds with TIMM8A: view

Transcripts for TIMM8A Gene

mRNA/cDNA for TIMM8A Gene

Unigene Clusters for TIMM8A Gene

Translocase of inner mitochondrial membrane 8 homolog A (yeast):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TIMM8A Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b
SP1: -
SP2:
SP3: - -

Relevant External Links for TIMM8A Gene

GeneLoc Exon Structure for
TIMM8A
ECgene alternative splicing isoforms for
TIMM8A

Expression for TIMM8A Gene

mRNA expression in normal human tissues for TIMM8A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TIMM8A Gene

SOURCE GeneReport for Unigene cluster for TIMM8A Gene Hs.447877

mRNA Expression by UniProt/SwissProt for TIMM8A Gene

O60220-TIM8A_HUMAN
Tissue specificity: Highly expressed in fetal and adult brain, followed by fetal lung, liver and kidney. Also expressed in heart, placenta, lung, liver, kidney, pancreas, skeletal muscle and heart
genes like me logo Genes that share expressions with TIMM8A: view

Orthologs for TIMM8A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TIMM8A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TIMM8A 36
  • 100 (n)
  • 100 (a)
TIMM8A 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TIMM8A 36
  • 94.85 (n)
  • 98.97 (a)
TIMM8A 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TIMM8A 36
  • 95.53 (n)
  • 98.97 (a)
TIMM8A 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm9797 37
  • 95 (a)
OneToMany
Timm8a1 36
  • 90.72 (n)
  • 94.85 (a)
Timm8a1 16
Timm8a1 37
  • 95 (a)
OneToMany
Timm8a2 37
  • 74 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 70 (a)
OneToMany
-- 37
  • 83 (a)
OneToMany
-- 37
  • 93 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TIMM8A 37
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Timm8a1 36
  • 90.38 (n)
  • 94.85 (a)
chicken
(Gallus gallus)
Aves TIMM8A 36
  • 80.9 (n)
  • 91.01 (a)
TIMM8A 37
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TIMM8A 37
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.5563 36
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15448 36
timm8a 36
  • 69.8 (n)
  • 77.65 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10276 36
zebrafish
(Danio rerio)
Actinopterygii timm8a 36
  • 74.21 (n)
  • 83.33 (a)
timm8a 37
  • 80 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ddp-1 37
  • 40 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TIM8 37
  • 37 (a)
OneToMany
TIM8 39
Species with no ortholog for TIMM8A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TIMM8A Gene

ENSEMBL:
Gene Tree for TIMM8A (if available)
TreeFam:
Gene Tree for TIMM8A (if available)

Paralogs for TIMM8A Gene

Paralogs for TIMM8A Gene

Selected SIMAP similar genes for TIMM8A Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for TIMM8A Gene

genes like me logo Genes that share paralogs with TIMM8A: view

Variants for TIMM8A Gene

Sequence variations from dbSNP and Humsavar for TIMM8A Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs1053868 -- 101,342,013(-) CCCGA(C/G)TACTG intron-variant
rs1053869 -- 101,342,001(-) CATGA(C/G)TCACT intron-variant
rs1053870 -- 101,341,832(-) TTAAA(G/T)TTAAA intron-variant
rs1054894 Pathogenic 101,346,555(-) TGAAT(C/T)GACTG reference, stop-gained, intron-variant
rs2071224 -- 101,346,402(-) CTCCC(A/C/G)TCTTT utr-variant-3-prime, intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TIMM8A Gene

Variant ID Type Subtype PubMed ID
nsv524411 CNV Loss 19592680

Relevant External Links for TIMM8A Gene

HapMap Linkage Disequilibrium report
TIMM8A
Human Gene Mutation Database (HGMD)
TIMM8A

Disorders for TIMM8A Gene

(2) OMIM Diseases for TIMM8A Gene (300356)

UniProtKB/Swiss-Prot

TIM8A_HUMAN
  • Mohr-Tranebjaerg syndrome (MTS) [MIM:304700]: Recessive neurodegenerative syndrome characterized by postlingual progressive sensorineural deafness as the first presenting symptom in early childhood, followed by progressive dystonia, spasticity, dysphagia, mental deterioration, paranoia and cortical blindness. {ECO:0000269 PubMed:10878669, ECO:0000269 PubMed:11875042, ECO:0000269 PubMed:11956200}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Jensen syndrome (JENSS) [MIM:311150]: X-linked disease characterized by deafness, blindness and muscle weakness. Note=The disease is caused by mutations affecting the gene represented in this entry.

(10) Novoseek inferred disease relationships for TIMM8A Gene

Disease -log(P) Hits PubMed IDs
mohr-tranebjaerg syndrome 99.3 17
mitochondrial diseases 62.5 1
focal dystonia 60.7 2
hearing loss sensorineural 52.2 1
blindness 48.5 2

Relevant External Links for TIMM8A

GeneTests
TIMM8A
GeneReviews
TIMM8A
Genetic Association Database (GAD)
TIMM8A
Human Genome Epidemiology (HuGE) Navigator
TIMM8A
genes like me logo Genes that share disorders with TIMM8A: view

Publications for TIMM8A Gene

  1. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. (PMID: 8841189) Jin H. … Vetrie D. (Nat. Genet. 1996) 2 3 4 23
  2. Human deafness dystonia syndrome is a mitochondrial disease. (PMID: 10051608) Koehler C.M. … Schatz G. (Proc. Natl. Acad. Sci. U.S.A. 1999) 3 4 23
  3. The human family of deafness/dystonia peptide (DDP) related mitochondrial import proteins. (PMID: 10552927) Jin H. … Vetrie D.L.P. (Genomics 1999) 2 3 23
  4. A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome. (PMID: 10878669) Tranebjaerg L. … Van Ghelue M. (Eur. J. Hum. Genet. 2000) 3 4 23
  5. Role of the deafness dystonia peptide 1 (DDP1) in import of human Tim23 into the inner membrane of mitochondria. (PMID: 11489896) Rothbauer U. … Bauer M.F. (J. Biol. Chem. 2001) 3 4 23

Products for TIMM8A Gene

Sources for TIMM8A Gene

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