TCHH (trichohyalin)

Gene

• Entrez ID: 7062
• Gene name: Trichohyalin
• Gene symbol: TCHH
• Synonyms: THH, THL, TRHY, UHS3
• Chromosome: 1
• Chromosome location: 1q21.3
• Summary: 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 filifo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs201930497	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1416571	hsa-miR-1224-5p	CLIP-seq
MIRT1416572	hsa-miR-1260	CLIP-seq
MIRT1416573	hsa-miR-1260b	CLIP-seq
MIRT1416574	hsa-miR-128	CLIP-seq
MIRT1416575	hsa-miR-188-3p	CLIP-seq
MIRT1416576	hsa-miR-27a	CLIP-seq
MIRT1416577	hsa-miR-27b	CLIP-seq
MIRT1416578	hsa-miR-3074-3p	CLIP-seq
MIRT1416579	hsa-miR-3145-3p	CLIP-seq
MIRT1416580	hsa-miR-3156-3p	CLIP-seq
MIRT1416581	hsa-miR-361-5p	CLIP-seq
MIRT1416582	hsa-miR-3646	CLIP-seq
MIRT1416583	hsa-miR-3915	CLIP-seq
MIRT1416584	hsa-miR-3919	CLIP-seq
MIRT1416585	hsa-miR-3928	CLIP-seq
MIRT1416586	hsa-miR-4282	CLIP-seq
MIRT1416587	hsa-miR-4328	CLIP-seq
MIRT1416588	hsa-miR-4446-5p	CLIP-seq
MIRT1416589	hsa-miR-4477a	CLIP-seq
MIRT1416590	hsa-miR-455-3p	CLIP-seq
MIRT1416591	hsa-miR-4659a-3p	CLIP-seq
MIRT1416592	hsa-miR-4659b-3p	CLIP-seq
MIRT1416593	hsa-miR-4689	CLIP-seq
MIRT1416594	hsa-miR-4756-3p	CLIP-seq
MIRT1416595	hsa-miR-4775	CLIP-seq
MIRT1416596	hsa-miR-5096	CLIP-seq
MIRT1416597	hsa-miR-513a-3p	CLIP-seq
MIRT1416598	hsa-miR-513a-5p	CLIP-seq
MIRT1416599	hsa-miR-590-3p	CLIP-seq
MIRT1416600	hsa-miR-889	CLIP-seq
MIRT1416601	hsa-miR-944	CLIP-seq
MIRT2124923	hsa-miR-330-3p	CLIP-seq
MIRT2124924	hsa-miR-4799-5p	CLIP-seq
MIRT1416572	hsa-miR-1260	CLIP-seq
MIRT1416573	hsa-miR-1260b	CLIP-seq
MIRT1416575	hsa-miR-188-3p	CLIP-seq
MIRT1416580	hsa-miR-3156-3p	CLIP-seq
MIRT2347346	hsa-miR-3612	CLIP-seq
MIRT2347347	hsa-miR-4443	CLIP-seq
MIRT1416588	hsa-miR-4446-5p	CLIP-seq
MIRT2347348	hsa-miR-494	CLIP-seq
MIRT2347349	hsa-miR-650	CLIP-seq
MIRT2461251	hsa-miR-106a	CLIP-seq
MIRT2461252	hsa-miR-106b	CLIP-seq
MIRT2461253	hsa-miR-17	CLIP-seq
MIRT2461254	hsa-miR-20a	CLIP-seq
MIRT2461255	hsa-miR-20b	CLIP-seq
MIRT2461256	hsa-miR-298	CLIP-seq
MIRT2461257	hsa-miR-519d	CLIP-seq
MIRT2461258	hsa-miR-520d-5p	CLIP-seq
MIRT2461259	hsa-miR-520g	CLIP-seq
MIRT2461260	hsa-miR-520h	CLIP-seq
MIRT2461261	hsa-miR-524-5p	CLIP-seq
MIRT2461262	hsa-miR-93	CLIP-seq
MIRT2461251	hsa-miR-106a	CLIP-seq
MIRT2461252	hsa-miR-106b	CLIP-seq
MIRT2461253	hsa-miR-17	CLIP-seq
MIRT2461254	hsa-miR-20a	CLIP-seq
MIRT2461255	hsa-miR-20b	CLIP-seq
MIRT2461256	hsa-miR-298	CLIP-seq
MIRT2461257	hsa-miR-519d	CLIP-seq
MIRT2461258	hsa-miR-520d-5p	CLIP-seq
MIRT2461259	hsa-miR-520g	CLIP-seq
MIRT2461260	hsa-miR-520h	CLIP-seq
MIRT2461261	hsa-miR-524-5p	CLIP-seq
MIRT2461262	hsa-miR-93	CLIP-seq
MIRT2461251	hsa-miR-106a	CLIP-seq
MIRT2461252	hsa-miR-106b	CLIP-seq
MIRT2461253	hsa-miR-17	CLIP-seq
MIRT2461254	hsa-miR-20a	CLIP-seq
MIRT2461255	hsa-miR-20b	CLIP-seq
MIRT2461256	hsa-miR-298	CLIP-seq
MIRT2461257	hsa-miR-519d	CLIP-seq
MIRT2461258	hsa-miR-520d-5p	CLIP-seq
MIRT2461259	hsa-miR-520g	CLIP-seq
MIRT2461260	hsa-miR-520h	CLIP-seq
MIRT2461261	hsa-miR-524-5p	CLIP-seq
MIRT2461262	hsa-miR-93	CLIP-seq
MIRT2461251	hsa-miR-106a	CLIP-seq
MIRT2461252	hsa-miR-106b	CLIP-seq
MIRT2461253	hsa-miR-17	CLIP-seq
MIRT2461254	hsa-miR-20a	CLIP-seq
MIRT2461255	hsa-miR-20b	CLIP-seq
MIRT2461256	hsa-miR-298	CLIP-seq
MIRT2461257	hsa-miR-519d	CLIP-seq
MIRT2461258	hsa-miR-520d-5p	CLIP-seq
MIRT2461259	hsa-miR-520g	CLIP-seq
MIRT2461260	hsa-miR-520h	CLIP-seq
MIRT2461261	hsa-miR-524-5p	CLIP-seq
MIRT2461262	hsa-miR-93	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	TAS
GO:0005509	Function	Calcium ion binding	TAS	7685034
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	NAS	7686953
GO:0008150	Process	Biological_process	ND
GO:0045109	Process	Intermediate filament organization	IBA	21873635
GO:0046914	Function	Transition metal ion binding	IEA
GO:0070268	Process	Cornification	TAS

Other IDs

• MIM: 190370
• HGNC: 11791
• e!Ensembl: ENSG00000159450

Protein

• UniProt ID: Q07283
• Protein name: Trichohyalin
• Protein function: Intermediate filament-associated protein that associates in regular arrays with keratin intermediate filaments (KIF) of the inner root sheath cells of the hair follicle and the granular layer of the epidermis. It later becomes cross-linked to KI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01023	S_100	4 → 46	S-100/ICaBP type calcium binding domain	Domain

• Sequence:

  MSPLLRSICDITEIFNQYVSHDCDGAALTKKDLKNLLEREFGAVLRRPHDPKTVDLILEL
  LDLDSNGRVDFNEFLLFIFKVAQACYYALGQATGLDEEKRARCDGKESLLQDRRQEEDQR
  RFEPRDRQLEEEPGQRRRQKRQEQERELAEGEEQSEKQERLEQRDRQRRDEELWRQRQEW
  QEREERRAEEEQLQSCKGHETEEFPDEEQLRRRELLELRRKGREEKQQQRRERQDRVFQE
  EEEKEWRKRETVLRKEEEKLQEEEPQRQRELQEEEEQLRKLERQELRRERQEEEQQQQRL
  RREQQLRRKQEEERREQQEERREQQERREQQEERREQQLRREQEERREQQLRREQEEERR
  EQQLRREQEEERREQQLRREQQLRREQQLRREQQLRREQQLRREQQLRREQQLRREQQLR
  REQQLRREQEEERHEQKHEQERREQRLKREQEERRDWLKREEETERHEQERRKQQLKRDQ
  EEERRERWLKLEEEERREQQERREQQLRREQEERREQRLKRQEEEERLQQRLRSEQQLRR
  EQEERREQLLKREEEKRLEQERREQRLKREQEERRDQLLKREEERRQQRLKREQEERLEQ
  RLKREEVERLEQEERREQRLKREEPEEERRQQLLKSEEQEERRQQQLRREQQERREQRLK
  REEEEERLEQRLKREHEEERREQELAEEEQEQARERIKSRIPKWQWQLESEADARQSKVY
  SRPRKQEGQRRRQEQEEKRRRRESELQWQEEERAHRQQQEEEQRRDFTWQWQAEEKSERG
  RQRLSARPPLREQRERQLRAEERQQREQRFLPEEEEKEQRRRQRREREKELQFLEEEEQL
  QRRERAQQLQEEEDGLQEDQERRRSQEQRRDQKWRWQLEEERKRRRHTLYAKPALQEQLR
  KEQQLLQEEEEELQREEREKRRRQEQERQYREEEQLQQEEEQLLREEREKRRRQERERQY
  RKDKKLQQKEEQLLGEEPEKRRRQEREKKYREEEELQQEEEQLLREEREKRRRQEWERQY
  RKKDELQQEEEQLLREEREKRRLQERERQYREEEELQQEEEQLLGEERETRRRQELERQY
  RKEEELQQEEEQLLREEPEKRRRQERERQCREEEELQQEEEQLLREEREKRRRQELERQY
  REEEEVQQEEEQLLREEPEKRRRQELERQYREEEELQQEEEQLLREEQEKRRQERERQYR
  EEEELQRQKRKQRYRDEDQRSDLKWQWEPEKENAVRDNKVYCKGRENEQFRQLEDSQLRD
  RQSQQDLQHLLGEQQERDREQERRRWQQRDRHFPEEEQLEREEQKEAKRRDRKSQEEKQL
  LREEREEKRRRQETDRKFREEEQLLQEREEQPLRRQERDRKFREEELRHQEQGRKFLEEE
  QRLRRQERERKFLKEEQQLRCQEREQQLRQDRDRKFREEEQQLSRQERDRKFREEEQQVR
  RQERERKFLEEEQQLRQERHRKFREEEQLLQEREEQQLHRQERDRKFLEEEQQLRRQERD
  RKFREQELRSQEPERKFLEEEQQLHRQQRQRKFLQEEQQLRRQERGQQRRQDRDRKFREE
  EQLRQEREEQQLSRQERDRKFRLEEQKVRRQEQERKFMEDEQQLRRQEGQQQLRQERDRK
  FREDEQLLQEREEQQLHRQERDRKFLEEEPQLRRQEREQQLRHDRDRKFREEEQLLQEGE
  EQQLRRQERDRKFREEEQQLRRQERERKFLQEEQQLRRQELERKFREEEQLRQETEQEQL
  RRQERYRKILEEEQLRPEREEQQLRRQERDRKFREEEQLRQEREEQQLRSQESDRKFREE
  EQLRQEREEQQLRPQQRDGKYRWEEEQLQLEEQEQRLRQERDRQYRAEEQFATQEKSRRE
  EQELWQEEEQKRRQERERKLREEHIRRQQKEEQRHRQVGEIKSQEGKGHGRLLEPGTHQF
  ASVPVRSSPLYEYIQEQRSQYRP

• Sequence length: 1943

Pathways

Reactome:

Formation of the cornified envelope

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Dermatitis	Dermatitis, Atopic	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	23886662
Uncombable hair syndrome	Uncombable hair syndrome, UNCOMBABLE HAIR SYNDROME 3	rs201930497, rs779702016, rs142129409, rs144944758