TCHH trichohyalin [Homo sapiens (human)] - Gene

Summary

Official Symbol: TCHHprovided by HGNC
Official Full Name: trichohyalinprovided by HGNC
Primary source: HGNC:HGNC:11791
See related: Ensembl:ENSG00000159450 MIM:190370; AllianceGenome:HGNC:11791
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: THH; THL; TRHY; UHS3
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 filiform papillae of the tongue. Defects in this gene are a cause of uncombable hair syndrome. [provided by RefSeq, Feb 2017]
Expression: Biased expression in placenta (RPKM 1.2), spleen (RPKM 1.1) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q21.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (152106317..152115444, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (151229886..151238995, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (152078793..152087920, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of MKI67, TPR , and TCHH Mutations as Prognostic Biomarkers for Patients With Defective Mismatch Repair Colon Cancer Stage II/III.
Title: Identification of MKI67, TPR , and TCHH Mutations as Prognostic Biomarkers for Patients With Defective Mismatch Repair Colon Cancer Stage II/III.
Methylome profiling identifies TCHH methylation in CfDNA as a noninvasive marker of liver metastasis in colorectal cancer.
Title: Methylome profiling identifies TCHH methylation in CfDNA as a noninvasive marker of liver metastasis in colorectal cancer.
The difference between the twoinduced pluripotent stem cell(IPSC) clones in TCHH methylation did not have an obvious effect on its expression in 3D human epidermal equivalent, suggesting that differentiation and tissue formation may mitigate variations in the iPSC methylome.
Title: Induced Pluripotent Stem Cell Differentiation and Three-Dimensional Tissue Formation Attenuate Clonal Epigenetic Differences in Trichohyalin.
The two enzymes PADI3 and TGM3, responsible for posttranslational protein modifications, and their target structural protein TCHH are all involved in hair shaft formation.
Title: Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
To evaluate the relative contribution of these variants, we performed a second genome-wide scan in 709 samples from the Uyghur, an admixed population with both eastern and western Eurasian ancestries. In Uyghurs, both EDAR (rs3827760: P = 1.92 x 10(-12)) and TCHH (rs11803731: P = 1.46 x 10(-3)) are associated with hair straightness, but EDAR (OR 0.415) has a greater effect than TCHH (OR 0.575).
Title: Genome-wide scans reveal variants at EDAR predominantly affecting hair straightness in Han Chinese and Uyghur populations.
Data suggest that an immune response to trichohyalin and K16 may have a role in the pathogenesis of the enigmatic disorder.
Title: Trichohyalin is a potential major autoantigen in human alopecia areata.
Observational study of gene-disease association. (HuGE Navigator)
Title: Web-based, participant-driven studies yield novel genetic associations for common traits.
BMP-4 signalling activates AHF transcription in hair follicles.
Title: Molecular elements of the regulatory control of keratin filament modulator AHF/trichohyalin in the hair follicle.
Common variants in the TCHH gene are associated with straight hair in Europeans.
Title: Common variants in the trichohyalin gene are associated with straight hair in Europeans.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Common variants in the trichohyalin gene are associated with straight hair in Europeans.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Uncombable hair syndrome 3 MedGen: C4310648 OMIM: 617252 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Common variants in the trichohyalin gene are associated with straight hair in Europeans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Web-based, participant-driven studies yield novel genetic associations for common traits. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH17609 (e-PCR)
- UniSTS:66379

RH69475 (e-PCR)
- UniSTS:6245

D1S2399 (e-PCR)
- UniSTS:19448

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	TAS Traceable Author Statement more info	PubMed
enables transition metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in intermediate filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in keratinization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cornified envelope	TAS Traceable Author Statement more info
located_in cytoskeleton	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: trichohyalin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_052960.1 RefSeqGene

Range

5011..14138

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_007113.4 → NP_009044.2 trichohyalin

See identical proteins and their annotated locations for NP_009044.2

Status: REVIEWED

Source sequence(s)

AL589986

Consensus CDS

CCDS41396.1

UniProtKB/Swiss-Prot

Q07283, Q5VUI3

Related

ENSP00000480484.1, ENST00000614923.2

Conserved Domains (2) summary

cd00213
Location:2 → 89

S-100; S-100: S-100 domain, which represents the largest family within the superfamily of proteins carrying the Ca-binding EF-hand motif. Note that this S-100 hierarchy contains only S-100 EF-hand domains, other EF-hands have been modeled separately. S100 ...

pfam13868
Location:1435 → 1752

TPH; Trichohyalin-plectin-homology domain