Seroatlas · Human Serome Atlas

TMC1

Transmembrane channel-like protein 1

Also known as: DFNA36, DFNB11, DFNB7, TMC1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q8TDI8
Gene: TMC1
Ensembl: ENSG00000165091
Chromosome: 9
Canonical length: 760 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

760 residues, UniProt reviewed canonical sequence.

>Q8TDI8|TMC1
     1  MSPKKVQIKV EEKEDETEES SSEEEEEVED KLPRRESLRP KRKRTRDVIN EDDPEPEPED
    61  EETRKAREKE RRRRLKRGAE EEEIDEEELE RLKAELDEKR QIIATVKCKP WKMEKKIEVL
   121  KEAKKFVSEN EGALGKGKGK RWFAFKMMMA KKWAKFLRDF ENFKAACVPW ENKIKAIESQ
   181  FGSSVASYFL FLRWMYGVNM VLFILTFSLI MLPEYLWGLP YGSLPRKTVP RAEEASAANF
   241  GVLYDFNGLA QYSVLFYGYY DNKRTIGWMN FRLPLSYFLV GIMCIGYSFL VVLKAMTKNI
   301  GDDGGGDDNT FNFSWKVFTS WDYLIGNPET ADNKFNSITM NFKEAITEEK AAQVEENVHL
   361  IRFLRFLANF FVFLTLGGSG YLIFWAVKRS QEFAQQDPDT LGWWEKNEMN MVMSLLGMFC
   421  PTLFDLFAEL EDYHPLIALK WLLGRIFALL LGNLYVFILA LMDEINNKIE EEKLVKANIT
   481  LWEANMIKAY NASFSENSTG PPFFVHPADV PRGPCWETMV GQEFVRLTVS DVLTTYVTIL
   541  IGDFLRACFV RFCNYCWCWD LEYGYPSYTE FDISGNVLAL IFNQGMIWMG SFFAPSLPGI
   601  NILRLHTSMY FQCWAVMCCN VPEARVFKAS RSNNFYLGML LLILFLSTMP VLYMIVSLPP
   661  SFDCGPFSGK NRMFEVIGET LEHDFPSWMA KILRQLSNPG LVIAVILVMV LAIYYLNATA
   721  KGQKAANLDL KKKMKMQALE NKMRNKKMAA ARAAAAAGRQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMC1 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: Cell surface
Secreted: No
Transmembrane segments: 10
Mean surface accessibility (rSASA): 0.35
Highest tissue expression: 1.1 nTPM

Expression across tissuesHPA

Tissue

spinal cord: 1.1 nTPM
cervix: 1 nTPM
epididymis: 0.7 nTPM
kidney: 0.7 nTPM
midbrain: 0.6 nTPM
placenta: 0.4 nTPM

Single-cell type

urothelial cells: 318 nCPM
esophageal apical cells: 316 nCPM
proximal tubule cells: 246 nCPM
cytotrophoblasts: 145 nCPM
migrating cytotrophoblasts: 101 nCPM
prostatic club cells: 100 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

white matter: 1.2 nTPM
medulla oblongata: 1.1 nTPM
midbrain: 1.1 nTPM
hypothalamus: 1 nTPM
pons: 0.8 nTPM
spinal cord: 0.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TMC1.

Disease | AllUniProt

Conditions TMC1 is implicated in, by any mechanism.

Deafness, autosomal dominant, 36 (DFNA36) MIM:606705
Deafness, autosomal recessive, 7 (DFNB7) MIM:600974

Disease | GeneticClinVar

174 pathogenic / likely-pathogenic of 899 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal recessive nonsyndromic hearing loss 7
Autosomal dominant nonsyndromic hearing loss 36
Hearing loss, autosomal recessive
Rare genetic deafness
Nonsyndromic genetic hearing loss

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): 0.98
gnomAD pLI: 0
gnomAD missense Z: 0.86
DepMap mean gene effect: 0.05
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% 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 TMC1 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 TMC1 as an antibody target. Whether an autoantibody or antibody against TMC1 could matter depends on whether native TMC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TMC1 is annotated at the cell surface, where native TMC1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label TMC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...