TIMM8A

Protein identityUniProt · HPA

UniProt accession

O60220

Gene

TIMM8A

Ensembl

ENSG00000126953

Chromosome

X

Canonical length

97 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Mitochondria

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

97 residues, UniProt reviewed canonical sequence.

>O60220|TIMM8A
     1  MDSSSSSSAA GLGAVDPQLQ HFIEVETQKQ RFQQLVHQMT ELCWEKCMDK PGPKLDSRAE
    61  ACFVNCVERF IDTSQFILNR LEQTQKSKPV FSESLSD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TIMM8A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.52

Highest tissue expression

24 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TIMM8A.

Disease | AllUniProt

Conditions TIMM8A is implicated in, by any mechanism.

• Mohr-Tranebjaerg syndrome (MTS) MIM:304700

Disease | GeneticClinVar

24 pathogenic / likely-pathogenic of 86 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Deafness dystonia syndrome
• Inborn genetic diseases
• Thyroid cancer, nonmedullary, 1
• Papillary renal cell carcinoma type 1

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.87

gnomAD pLI

0.65

gnomAD missense Z

1.15

DepMap mean gene effect

-0.25

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• nervous system development
• protein insertion into mitochondrial inner membrane
• protein transport

Molecular functions

• identical protein binding
• metal ion binding

Cellular components

• mitochondrial inner membrane
• mitochondrial intermembrane space
• mitochondrial intermembrane space chaperone complex
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Tim10-like
• Tim10-like domain superfamily
• Tim10/DDP family zinc finger

KeywordsUniProt

• Chaperone
• Deafness
• Disulfide bond
• Dystonia
• Membrane
• Metal-binding
• Mitochondrion
• Mitochondrion inner membrane
• Phosphoprotein
• Protein transport
• Translocation
• Transport
• Zinc

InteractionsUniProt · HPA

Protein binding partners of TIMM8A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TIMM13