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Aliases for TIMM8A Gene

Aliases for TIMM8A Gene

  • Translocase Of Inner Mitochondrial Membrane 8A 2 3 5
  • X-Linked Deafness Dystonia Protein 3 4
  • Deafness Dystonia Protein 1 3 4
  • DDP1 3 4
  • DDP 3 4
  • Translocase Of Inner Mitochondrial Membrane 8 (Yeast) Homolog A 2
  • Translocase Of Inner Mitochondrial Membrane 8 Homolog A (Yeast) 2
  • Mitochondrial Import Inner Membrane Translocase Subunit Tim8 A 3
  • Translocase Of Inner Mitochondrial Membrane 8 Homolog A 3
  • Deafness/Dystonia Peptide 3
  • TIM8A 4
  • TIM8 3
  • DFN1 3
  • MTS 3

External Ids for TIMM8A Gene

Previous HGNC Symbols for TIMM8A Gene

  • DFN1

Previous GeneCards Identifiers for TIMM8A Gene

  • GC0XM095892
  • GC0XM097571
  • GC0XM098636
  • GC0XM099372
  • GC0XM100406
  • GC0XM100488
  • GC0XM100600
  • GC0XM090406
  • GC0XM101320

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 8A) is a Protein Coding gene. Diseases associated with TIMM8A include Mohr-Tranebjaerg Syndrome and Jensen Syndrome. Among its related pathways are Metabolism of proteins 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TIMM8A Gene

Genomics for TIMM8A Gene

Regulatory Elements for TIMM8A Gene

Enhancers for TIMM8A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG101347 1 ENCODE 0.7 +0.7 685 2.7 ATF1 FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF48 GTF3C2 RPL36A ARMCX4 BTK BEX5 TIMM8A PIR52449
GH0XG101383 1.2 FANTOM5 ENCODE 0.3 -36.2 -36155 3.6 HDAC1 HDGF TBP PKNOX1 CBX3 TBL1XR1 ZNF473 NFRKB EGR1 ETV6 ARMCX4 GLA BTK BEX5 ARMCX3 TIMM8A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TIMM8A on UCSC Golden Path with GeneCards custom track

Promoters for TIMM8A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000247622 1095 2600 ATF1 FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF48 GTF3C2

Genomic Location for TIMM8A Gene

Chromosome:
X
Start:
101,345,656 bp from pter
End:
101,349,196 bp from pter
Size:
3,541 bases
Orientation:
Minus strand

Genomic View for TIMM8A Gene

Genes around TIMM8A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TIMM8A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TIMM8A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for TIMM8A Gene

  • Ubiquitination at Lys88
  • Modification sites at PhosphoSitePlus

Other Protein References for TIMM8A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TIMM8A Gene

Domains & Families for TIMM8A Gene

Protein Domains for TIMM8A Gene

Suggested Antigen Peptide Sequences for TIMM8A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60220

UniProtKB/Swiss-Prot:

TIM8A_HUMAN :
  • 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).
  • Belongs to the small Tim family.
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).
Family:
  • Belongs to the small Tim family.
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
genes like me logo Genes that share phenotypes with TIMM8A: view

Human Phenotype Ontology for TIMM8A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for TIMM8A Gene

miRTarBase miRNAs that target TIMM8A

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TIMM8A gene
Compartment Confidence
mitochondrion 5
cytosol 3
extracellular 2
nucleus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for TIMM8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IEA 20833797
GO:0005743 mitochondrial inner membrane IEA --
GO:0005758 mitochondrial intermembrane space IDA 14726512
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TIMM8A: view

Pathways & Interactions 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:0006810 transport IEA --
GO:0007399 nervous system development TAS 8841189
GO:0015031 protein transport IEA --
GO:0072321 chaperone-mediated protein transport TAS 16387659
genes like me logo Genes that share ontologies with TIMM8A: view

No data available for SIGNOR curated interactions for TIMM8A Gene

Drugs & Compounds for TIMM8A Gene

(1) Drugs for TIMM8A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for TIMM8A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TIMM8A Gene



Protein tissue co-expression partners for TIMM8A Gene

NURSA nuclear receptor signaling pathways regulating expression of TIMM8A Gene:

TIMM8A

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.

Evidence on tissue expression from TISSUES for TIMM8A Gene

  • Liver(4.5)
  • Nervous system(4.4)
  • Kidney(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TIMM8A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • mouth
  • pharynx
Thorax:
  • esophagus
Abdomen:
  • stomach
General:
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with TIMM8A: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein differential expression in normal tissues for TIMM8A Gene

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 34 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia TIMM8A 34 35
  • 95.53 (n)
mouse
(Mus musculus)
Mammalia Gm9797 35
  • 95 (a)
OneToMany
Timm8a1 34 16 35
  • 90.72 (n)
Timm8a2 35
  • 74 (a)
OneToMany
cow
(Bos Taurus)
Mammalia TIMM8A 34 35
  • 94.85 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 93 (a)
OneToMany
-- 35
  • 83 (a)
OneToMany
-- 35
  • 70 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Timm8a1 34
  • 90.38 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TIMM8A 35
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves TIMM8A 34 35
  • 80.9 (n)
lizard
(Anolis carolinensis)
Reptilia TIMM8A 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia timm8a 34
  • 69.8 (n)
Str.15448 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.5563 34
zebrafish
(Danio rerio)
Actinopterygii timm8a 34 35
  • 74.21 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10276 34
worm
(Caenorhabditis elegans)
Secernentea ddp-1 35
  • 40 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TIM8 35 37
  • 37 (a)
OneToMany
Species where no ortholog for TIMM8A was found in the sources mined by GeneCards:
  • 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

(2) 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
rs80356560 Pathogenic, Mohr-Tranebjaerg syndrome (MTS) [MIM:304700] 101,346,595(-) AACTG(C/G)GTTGA reference, missense
rs1054894 Pathogenic 101,346,555(-) TGAAT(C/T)GACTG reference, stop-gained
rs111033631 Pathogenic 101,348,595(-) TCATC(C/G/T)AGGTA reference, missense, stop-gained
rs128622212 Pathogenic 101,349,910(-) TATTC(C/T)AGATG upstream-variant-2KB, reference, missense
rs80356559 Pathogenic 101,348,553(-) TGCAC(C/T)AGATG reference, stop-gained

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

Variant ID Type Subtype PubMed ID
nsv524411 CNV loss 19592680

Variation tolerance for TIMM8A Gene

Residual Variation Intolerance Score: 44.1% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TIMM8A Gene

Human Gene Mutation Database (HGMD)
TIMM8A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TIMM8A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TIMM8A Gene

Disorders for TIMM8A Gene

MalaCards: The human disease database

(11) MalaCards diseases for TIMM8A Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mohr-tranebjaerg syndrome
  • jensen syndrome
jensen syndrome
  • opticoacoustic nerve atrophy with dementia
focal dystonia
  • focal hand dystonia
dystonia
  • dystonic disease
blepharospasm
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TIM8A_HUMAN
  • Mohr-Tranebjaerg syndrome (MTS) [MIM:304700]: An X-linked recessive disorder characterized by postlingual sensorineural deafness with onset in early childhood, dystonia, spasticity, dysphagia, mental deterioration, paranoia and cortical blindness. {ECO:0000269 PubMed:10878669, ECO:0000269 PubMed:11803487, ECO:0000269 PubMed:11875042, ECO:0000269 PubMed:11956200}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TIMM8A

Genetic Association Database (GAD)
TIMM8A
Human Genome Epidemiology (HuGE) Navigator
TIMM8A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TIMM8A
genes like me logo Genes that share disorders with TIMM8A: view

No data available for Genatlas for TIMM8A Gene

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 22 64
  2. The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex. (PMID: 15254020) Roesch K. … Koehler C.M. (Hum. Mol. Genet. 2004) 3 4 22 64
  3. 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 22 64
  4. Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene. (PMID: 11803487) Tranebjaerg L. … Skullerud K. (Ophthalmic Genet. 2001) 3 4 22 64
  5. 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 22 64

Products for TIMM8A Gene

Sources for TIMM8A Gene

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