STRC
Stereocilin
Also known as: DFNB16, STRC_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q7RTU9
- Gene
- STRC
- Ensembl
- ENSG00000242866
- Chromosome
- 15
- Canonical length
- 1775 aa
- Protein class
- Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
OverviewNCBI Gene
This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause autosomal recessive non-syndromic deafness. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
1775 residues, UniProt reviewed canonical sequence.
>Q7RTU9|STRC
1 MALSLWPLLL LLLLLLLLSF AVTLAPTGPH SLDPGLSFLK SLLSTLDQAP QGSLSRSRFF
61 TFLANISSSF EPGRMGEGPV GEPPPLQPPA LRLHDFLVTL RGSPDWEPML GLLGDMLALL
121 GQEQTPRDFL VHQAGVLGGL VEVLLGALVP GGPPTPTRPP CTRDGPSDCV LAADWLPSLL
181 LLLEGTRWQA LVQVQPSVDP TNATGLDGRE AAPHFLQGLL GLLTPTGELG SKEALWGGLL
241 RTVGAPLYAA FQEGLLRVTH SLQDEVFSIL GQPEPDTNGQ CQGGNLQQLL LWGVRHNLSW
301 DVQALGFLSG SPPPPPALLH CLSTGVPLPR ASQPSAHISP RQRRAITVEA LCENHLGPAP
361 PYSISNFSIH LLCQHTKPAT PQPHPSTTAI CQTAVWYAVS WAPGAQGWLQ ACHDQFPDEF
421 LDAICSNLSF SALSGSNRRL VKRLCAGLLP PPTSCPEGLP PVPLTPDIFW GCFLENETLW
481 AERLCGEASL QAVPPSNQAW VQHVCQGPTP DVTASPPCHI GPCGERCPDG GSFLVMVCAN
541 DTMYEVLVPF WPWLAGQCRI SRGGNDTCFL EGLLGPLLPS LPPLGPSPLC LTPGPFLLGM
601 LSQLPRCQSS VPALAHPTRL HYLLRLLTFL LGPGAGGAEA QGMLGRALLL SSLPDNCSFW
661 DAFRPEGRRS VLRTIGEYLE QDEEQPTPSG FEPTVNPSSG ISKMELLACF SPVLWDLLQR
721 EKSVWALQIL VQAYLHMPPE NLQQLVLSAE REAAQGFLTL MLQGKLQGKL QVPPSEEQAL
781 GRLTALLLQR YPRLTSQLFI DLSPLIPFLA VSDLMRFPPS LLANDSVLAA IRDYSPGMRP
841 EQKEALAKRL LAPELFGEVP AWPQELLWAV LPLLPHLPLE NFLQLSPHQI QALEDSWPAA
901 GLGPGHARHV LRSLVNQSVQ DGEEQVRRLG PLACFLSPEE LQSLVPLSDP TGPVERGLLE
961 CAANGTLSPE GRVAYELLGV LRSSGGAVLS PRELRVWAPL FSQLGLRFLQ ELSEPQLRAM
1021 LPVLQGTSVT PAQAVLLLGR LLPRHDLSLE ELCSLHLLLP GLSPQTLQAI PRRVLVGACS
1081 CLAPELSRLS ACQTAALLQT FRVKDGVKNM GTTGAGPAVC IPGQPIPTTW PDCLLPLLPL
1141 KLLQLDSLAL LANRRRYWEL PWSEQQAQFL WKKMQVPTNL TLRNLQALGT LAGGMSCEFL
1201 QQINSMVDFL EVVHMIYQLP TRVRGSLRAC IWAELQRRMA MPEPEWTTVG PELNGLDSKL
1261 LLDLPIQLMD RLSNESIMLV VELVQRAPEQ LLALTPLHQA ALAERALQNL APKETPVSGE
1321 VLETLGPLVG FLGTESTRQI PLQILLSHLS QLQGFCLGET FATELGWLLL QESVLGKPEL
1381 WSQDEVEQAG RLVFTLSTEA ISLIPREALG PETLERLLEK QQSWEQSRVG QLCREPQLAA
1441 KKAALVAGVV RPAAEDLPEP VPNCADVRGT FPAAWSATQI AEMELSDFED CLTLFAGDPG
1501 LGPEELRAAM GKAKQLWGPP RGFRPEQILQ LGRLLIGLGD RELQELILVD WGVLSTLGQI
1561 DGWSTTQLRI VVSSFLRQSG RHVSHLDFVH LTALGYTLCG LRPEELQHIS SWEFSQAALF
1621 LGTLHLQCSE EQLEVLAHLL VLPGGFGPIS NWGPEIFTEI GTIAAGIPDL ALSALLRGQI
1681 QGVTPLAISV IPPPKFAVVF SPIQLSSLTS AQAVAVTPEQ MAFLSPEQRR AVAWAQHEGK
1741 ESPEQQGRST AWGLQDWSRP SWSLVLTISF LGHLLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against STRC 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
- 0
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 41 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 41 nTPM
- cerebral cortex: 11 nTPM
- basal ganglia: 7.7 nTPM
- hypothalamus: 6.4 nTPM
- hippocampal formation: 5 nTPM
- testis: 4.6 nTPM
Single-cell type
- retinal ganglion cells: 12 nCPM
- brain excitatory neurons: 7.2 nCPM
- corticotrophs: 4.8 nCPM
- epicardial cells: 4.5 nCPM
- cone photoreceptor cells: 4.1 nCPM
- rod photoreceptor cells: 3.7 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
- cerebellum: 19 nTPM
- cerebral cortex: 15 nTPM
- white matter: 9.7 nTPM
- hippocampal formation: 7.8 nTPM
- pons: 7.7 nTPM
- basal ganglia: 7.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about STRC.
Disease | AllUniProt
Conditions STRC is implicated in, by any mechanism.
- Deafness, autosomal recessive, 16 (DFNB16) MIM:603720
- Deafness-infertility syndrome (DIS) MIM:611102
Disease | GeneticClinVar
79 pathogenic / likely-pathogenic of 354 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Autosomal recessive nonsyndromic hearing loss 16
- Rare genetic deafness
- STRC-related disorder
- Deafness-infertility syndrome
- Spermatogenic failure 7
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)
- 0.88
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.27
- DepMap mean gene effect
- -0.24
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- auditory receptor cell stereocilium organization
- cell-matrix adhesion
- detection of mechanical stimulus involved in sensory perception of sound
- intracellular protein localization
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads STRC as an antibody target. Whether an autoantibody or antibody against STRC could matter depends on whether native STRC is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
STRC is annotated at the cell surface, where native STRC 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 STRC as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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