Seroatlas · Human Serome Atlas

TIMM50

Mitochondrial import inner membrane translocase subunit TIM50

Also known as: TIM50, TIM50_HUMAN, TIM50L

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q3ZCQ8
Gene
TIMM50
Ensembl
ENSG00000105197
Chromosome
19
Canonical length
353 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Nucleoplasm,Mitochondria

OverviewNCBI Gene

This gene encodes a subunit of the TIM23 inner mitochondrial membrane translocase complex. The encoded protein functions as the receptor subunit that recognizes the mitochondrial targeting signal, or presequence, on protein cargo that is destined for the mitochondrial inner membrane and matrix. This protein may also play a role in maintaining the membrane permeability barrier, and knockdown of this gene in human cells results in the release of cytochrome c and apoptosis. [provided by RefSeq, Jul 2016]

Canonical amino-acid sequenceUniProt

353 residues, UniProt reviewed canonical sequence.

>Q3ZCQ8|TIMM50
     1  MAASAAVFSR LRSGLRLGSR GLCTRLATPP RRAPDQAAEI GSRGSTKAQG PQQQPGSEGP
    61  SYAKKVALWL AGLLGAGGTV SVVYIFGNNP VDENGAKIPD EFDNDPILVQ QLRRTYKYFK
   121  DYRQMIIEPT SPCLLPDPLQ EPYYQPPYTL VLELTGVLLH PEWSLATGWR FKKRPGIETL
   181  FQQLAPLYEI VIFTSETGMT AFPLIDSVDP HGFISYRLFR DATRYMDGHH VKDISCLNRD
   241  PARVVVVDCK KEAFRLQPYN GVALRPWDGN SDDRVLLDLS AFLKTIALNG VEDVRTVLEH
   301  YALEDDPLAA FKQRQSRLEQ EEQQRLAELS KSNKQNLFLG SLTSRLWPRS KQP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TIMM50 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
1
Mean surface accessibility (rSASA)
0.4
Highest tissue expression
121 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 121 nTPM
  • heart muscle: 93 nTPM
  • testis: 90 nTPM
  • tongue: 71 nTPM
  • choroid plexus: 49 nTPM
  • liver: 47 nTPM

Single-cell type

  • late spermatids: 1,047 nCPM
  • late primary spermatocytes: 206 nCPM
  • early spermatids: 180 nCPM
  • esophageal basal cells: 110 nCPM
  • migrating cytotrophoblasts: 107 nCPM
  • syncytiotrophoblasts: 96 nCPM

Immune cell

  • total PBMC: 63 nTPM
  • myeloid DC: 61 nTPM
  • intermediate monocyte: 59 nTPM
  • non-classical monocyte: 59 nTPM
  • classical monocyte: 54 nTPM
  • T-reg: 48 nTPM

Brain region

  • hypothalamus: 51 nTPM
  • medulla oblongata: 50 nTPM
  • cerebral cortex: 50 nTPM
  • cerebellum: 49 nTPM
  • midbrain: 47 nTPM
  • basal ganglia: 47 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TIMM50.

Disease | AllUniProt

Conditions TIMM50 is implicated in, by any mechanism.

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 485 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.65
gnomAD pLI
0
gnomAD missense Z
0.04
DepMap mean gene effect
-0.43
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TIMM50 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TIMM50 as an antibody target. Whether an autoantibody or antibody against TIMM50 could matter depends on whether native TIMM50 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TIMM50 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label TIMM50 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TIMM50. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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