TCHHL1
Trichohyalin-like protein 1
Also known as: S100A17, TCHL1_HUMAN, THHL1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q5QJ38
- Gene
- TCHHL1
- Ensembl
- ENSG00000182898
- Chromosome
- 1
- Canonical length
- 904 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nuclear membrane,Nucleoli
OverviewNCBI Gene
This gene belongs to the S100 fused-type protein (SFTP) gene family, and is located in a cluster of SFTP genes on chromosome 1q21. Several members of this family have been implicated in the development of complex skin disorders. This gene is evolutionarily conserved; its expression appears to be hair-specific and spatially restricted within the distal inner root sheath of the hair follicle. It thus may have an important role in hair morphogenesis. [provided by RefSeq, Aug 2013]
Canonical amino-acid sequenceUniProt
904 residues, UniProt reviewed canonical sequence.
>Q5QJ38|TCHHL1
1 MPQLLRNVLC VIETFHKYAS EDSNGATLTG RELKQLIQGE FGDFFQPCVL HAVEKNSNLL
61 NIDSNGIISF DEFVLAIFNL LNLCYLDIKS LLSSELRQVT KPEKEKLDDV DVQATTGDGQ
121 WTVGTSPTQE KRMLPSGMAS SSQLIPEESG AVGNNRVDPW REAKTHNFPG EASEHNDPKN
181 KHLEGDEQSQ EVAQDIQTTE DNEGQLKTNK PMAGSKKTSS PTERKGQDKE ISQEGDEPAR
241 EQSVSKIRDQ FGEQEGNLAT QSSPPKEATQ RPCEDQEVRT EKEKHSNIQE PPLQREDEPS
301 SQHADLPEQA AARSPSQTQK STDSKDVCRM FDTQEPGKDA DQTPAKTKNL GEPEDYGRTS
361 ETQEKECETK DLPVQYGSRN GSETSDMRDE RKERRGPEAH GTAGQKERDR KTRPLVLETQ
421 TQDGKYQELQ GLSKSKDAEK GSETQYLSSE GGDQTHPELE GTAVSGEEAE HTKEGTAEAF
481 VNSKNAPAAE RTLGARERTQ DLAPLEKQSV GENTRVTKTH DQPVEEEDGY QGEDPESPFT
541 QSDEGSSETP NSLASEEGNS SSETGELPVQ GDSQSQGDQH GESVQGGHNN NPDTQRQGTP
601 GEKNRALEAV VPAVRGEDVQ LTEDQEQPAR GEHKNQGPGT KGPGAAVEPN GHPEAQESTA
661 GDENRKSLEI EITGALDEDF TDQLSLMQLP GKGDSRNELK VQGPSSKEEK GRATEAQNTL
721 LESLDEDNSA SLKIQLETKE PVTSEEEDES PQELAGEGGD QKSPAKKEHN SSVPWSSLEK
781 QMQRDQEPCS VERGAVYSSP LYQYLQEKIL QQTNVTQEEH QKQVQIAQAS GPELCSVSLT
841 SEISDCSVFF NYSQASQPYT RGLPLDESPA GAQETPAPQA LEDKQGHPQR ERLVLQREAS
901 TTKQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TCHHL1 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
- Unknown
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.67
- Highest tissue expression
- 0.7 nTPM
Expression across tissuesHPA
Tissue
- skin: 0.7 nTPM
- epididymis: 0.1 nTPM
- adipose tissue: 0 nTPM
- adrenal gland: 0 nTPM
- amygdala: 0 nTPM
- appendix: 0 nTPM
Single-cell type
- cdc: 0.3 nCPM
- mesothelial cells: 0.3 nCPM
- endometrial glandular cells: 0.1 nCPM
- prostatic hillock cells: 0.1 nCPM
- adipocytes: 0 nCPM
- adrenal cortex cells: 0 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
- amygdala: 0 nTPM
- basal ganglia: 0 nTPM
- cerebellum: 0 nTPM
- cerebral cortex: 0 nTPM
- choroid plexus: 0 nTPM
- hippocampal formation: 0 nTPM
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)
- 1.07
- gnomAD pLI
- 0.58
- gnomAD missense Z
- -0.54
- DepMap mean gene effect
- -0.08
- 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
Molecular functions
Protein domainsUniProt · Pfam · InterPro
- EF-hand domain pair
- S100/CaBP-9k-type, calcium binding, subdomain
- S-100
- S-100/ICaBP type calcium binding domain
- Trichohyalin-like protein 1
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TCHHL1 as an antibody target. Whether an autoantibody or antibody against TCHHL1 could matter depends on whether native TCHHL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TCHHL1 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 TCHHL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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