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TCHH trichohyalin [ Homo sapiens (human) ]

Gene ID: 7062, updated on 26-Sep-2021

Summary

Official Symbol
TCHHprovided by HGNC
Official Full Name
trichohyalinprovided by HGNC
Primary source
HGNC:HGNC:11791
See related
Ensembl:ENSG00000159450 MIM:190370
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
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Genomic context

See TCHH in Genome Data Viewer
Location:
1q21.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (152106317..152115444, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (152078793..152087920, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene putative UPF0607 protein ENSP00000383783 Neighboring gene trichohyalin like 1 Neighboring gene pseudouridine 5'-phosphatase pseudogene 2 Neighboring gene repetin

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Common variants in the trichohyalin gene are associated with straight hair in Europeans.
GeneReviews: Not available
Uncombable hair syndrome 3
MedGen: C4310648 OMIM: 617252 GeneReviews: Not available
not available
Web-based, participant-driven studies yield novel genetic associations for common traits.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC157889, MGC157890

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 biological_process ND
No biological Data available
more info
 
involved_in intermediate filament organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 

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

  1. NG_052960.1 RefSeqGene

    Range
    5001..14138
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_007113.4NP_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
    Related
    ENSP00000480484.1, ENST00000614923.1
    Conserved Domains (2) summary
    cd00213
    Location:289
    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:14351752
    TPH; Trichohyalin-plectin-homology domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    152106317..152115444 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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