Entity Details

Primary name TRHY_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ07283
EntryNameTRHY_HUMAN
FullNameTrichohyalin
TaxID9606
Evidenceevidence at protein level
Length1943
SequenceStatuscomplete
DateCreated1994-10-01
DateModified2021-06-02

Ontological Relatives

GenesTCHH

GO terms

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GOName
GO:0001533 cornified envelope
GO:0005509 calcium ion binding
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0045109 intermediate filament organization
GO:0046914 transition metal ion binding
GO:0070268 cornification

Subcellular Location

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Domains

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DomainNameCategoryType
IPR001751 S100/Calbindin-D9k, conserved siteSiteConserved site
IPR002048 EF-hand domainDomainDomain
IPR011992 EF-hand domain pairFamilyHomologous superfamily
IPR013787 S100/CaBP-9k-type, calcium binding, subdomainDomainDomain
IPR018247 EF-Hand 1, calcium-binding siteSiteBinding site
IPR033200 TrichohyalinFamilyFamily
IPR034325 S-100DomainDomain

Diseases

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Disease IDSourceNameDescription
617252 OMIMUncombable hair syndrome 3 (UHS3)A form of uncombable hair syndrome, a condition characterized by scalp hair that is impossible to comb due to the haphazard arrangement of the hair bundles. A characteristic morphologic feature is a triangular to reniform to heart shape on cross-sections, and a groove, canal or flattening along the entire length of the hair. Most individuals are affected early in childhood and the hair takes on a spun-glass appearance with the hair becoming dry, curly, glossy, lighter in color, and progressively uncombable. The hair growth rate can range from slow to normal, and the condition improves with age. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
TRHY_HUMANUBC_HUMANBioGRID23314748 details