Seroatlas · Human Serome Atlas

TCHH

Trichohyalin

Also known as: THH, TRHY_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q07283
Gene
TCHH
Ensembl
ENSG00000159450
Chromosome
1
Canonical length
1943 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene forms crosslinked complexes with itself and keratin intermediate filaments to provide mechanical strength to the hair follicle inner root sheath. The encoded protein also is important for structural integrity of the filiform papillae of the tongue. Defects in this gene are a cause of uncombable hair syndrome. [provided by RefSeq, Feb 2017]

Canonical amino-acid sequenceUniProt

1943 residues, UniProt reviewed canonical sequence.

>Q07283|TCHH
     1  MSPLLRSICD ITEIFNQYVS HDCDGAALTK KDLKNLLERE FGAVLRRPHD PKTVDLILEL
    61  LDLDSNGRVD FNEFLLFIFK VAQACYYALG QATGLDEEKR ARCDGKESLL QDRRQEEDQR
   121  RFEPRDRQLE EEPGQRRRQK RQEQERELAE GEEQSEKQER LEQRDRQRRD EELWRQRQEW
   181  QEREERRAEE EQLQSCKGHE TEEFPDEEQL RRRELLELRR KGREEKQQQR RERQDRVFQE
   241  EEEKEWRKRE TVLRKEEEKL QEEEPQRQRE LQEEEEQLRK LERQELRRER QEEEQQQQRL
   301  RREQQLRRKQ EEERREQQEE RREQQERREQ QEERREQQLR REQEERREQQ LRREQEEERR
   361  EQQLRREQEE ERREQQLRRE QQLRREQQLR REQQLRREQQ LRREQQLRRE QQLRREQQLR
   421  REQQLRREQE EERHEQKHEQ ERREQRLKRE QEERRDWLKR EEETERHEQE RRKQQLKRDQ
   481  EEERRERWLK LEEEERREQQ ERREQQLRRE QEERREQRLK RQEEEERLQQ RLRSEQQLRR
   541  EQEERREQLL KREEEKRLEQ ERREQRLKRE QEERRDQLLK REEERRQQRL KREQEERLEQ
   601  RLKREEVERL EQEERREQRL KREEPEEERR QQLLKSEEQE ERRQQQLRRE QQERREQRLK
   661  REEEEERLEQ RLKREHEEER REQELAEEEQ EQARERIKSR IPKWQWQLES EADARQSKVY
   721  SRPRKQEGQR RRQEQEEKRR RRESELQWQE EERAHRQQQE EEQRRDFTWQ WQAEEKSERG
   781  RQRLSARPPL REQRERQLRA EERQQREQRF LPEEEEKEQR RRQRREREKE LQFLEEEEQL
   841  QRRERAQQLQ EEEDGLQEDQ ERRRSQEQRR DQKWRWQLEE ERKRRRHTLY AKPALQEQLR
   901  KEQQLLQEEE EELQREEREK RRRQEQERQY REEEQLQQEE EQLLREEREK RRRQERERQY
   961  RKDKKLQQKE EQLLGEEPEK RRRQEREKKY REEEELQQEE EQLLREEREK RRRQEWERQY
  1021  RKKDELQQEE EQLLREEREK RRLQERERQY REEEELQQEE EQLLGEERET RRRQELERQY
  1081  RKEEELQQEE EQLLREEPEK RRRQERERQC REEEELQQEE EQLLREEREK RRRQELERQY
  1141  REEEEVQQEE EQLLREEPEK RRRQELERQY REEEELQQEE EQLLREEQEK RRQERERQYR
  1201  EEEELQRQKR KQRYRDEDQR SDLKWQWEPE KENAVRDNKV YCKGRENEQF RQLEDSQLRD
  1261  RQSQQDLQHL LGEQQERDRE QERRRWQQRD RHFPEEEQLE REEQKEAKRR DRKSQEEKQL
  1321  LREEREEKRR RQETDRKFRE EEQLLQEREE QPLRRQERDR KFREEELRHQ EQGRKFLEEE
  1381  QRLRRQERER KFLKEEQQLR CQEREQQLRQ DRDRKFREEE QQLSRQERDR KFREEEQQVR
  1441  RQERERKFLE EEQQLRQERH RKFREEEQLL QEREEQQLHR QERDRKFLEE EQQLRRQERD
  1501  RKFREQELRS QEPERKFLEE EQQLHRQQRQ RKFLQEEQQL RRQERGQQRR QDRDRKFREE
  1561  EQLRQEREEQ QLSRQERDRK FRLEEQKVRR QEQERKFMED EQQLRRQEGQ QQLRQERDRK
  1621  FREDEQLLQE REEQQLHRQE RDRKFLEEEP QLRRQEREQQ LRHDRDRKFR EEEQLLQEGE
  1681  EQQLRRQERD RKFREEEQQL RRQERERKFL QEEQQLRRQE LERKFREEEQ LRQETEQEQL
  1741  RRQERYRKIL EEEQLRPERE EQQLRRQERD RKFREEEQLR QEREEQQLRS QESDRKFREE
  1801  EQLRQEREEQ QLRPQQRDGK YRWEEEQLQL EEQEQRLRQE RDRQYRAEEQ FATQEKSRRE
  1861  EQELWQEEEQ KRRQERERKL REEHIRRQQK EEQRHRQVGE IKSQEGKGHG RLLEPGTHQF
  1921  ASVPVRSSPL YEYIQEQRSQ YRP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TCHH 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.48
Highest tissue expression
37 nTPM

Expression across tissuesHPA

Tissue

  • skin: 37 nTPM
  • spleen: 2 nTPM
  • placenta: 1 nTPM
  • testis: 0.8 nTPM
  • adipose tissue: 0.6 nTPM
  • breast: 0.4 nTPM

Single-cell type

  • kupffer cells: 73 nCPM
  • suprabasal keratinocytes: 48 nCPM
  • early primary spermatocytes: 44 nCPM
  • macrophages: 28 nCPM
  • respiratory deuterosomal cells: 28 nCPM
  • monocytes: 23 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

  • pons: 0.9 nTPM
  • cerebral cortex: 0.8 nTPM
  • midbrain: 0.8 nTPM
  • basal ganglia: 0.6 nTPM
  • medulla oblongata: 0.6 nTPM
  • amygdala: 0.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TCHH.

Disease | AllUniProt

Conditions TCHH is implicated in, by any mechanism.

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 473 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Uncombable hair syndrome 3

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
-6.6
DepMap mean gene effect
-0.11
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

Antibody and autoantibody relevanceSeroatlas analysis

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

TCHH 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 TCHH as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TCHH. 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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