Tchh trichohyalin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tchhprovided by MGI
Official Full Name: trichohyalinprovided by MGI
Primary source: MGI:MGI:2177944
See related: Ensembl:ENSMUSG00000052415 AllianceGenome:MGI:2177944
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: AHF; Thh
Summary: Enables protein-macromolecule adaptor activity. Acts upstream of or within intermediate filament organization. Is expressed in filiform papillae; hair inner root sheath; hair medulla; and tongue. Orthologous to human TCHH (trichohyalin). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in testis adult (RPKM 1.5), genital fat pad adult (RPKM 1.1) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 F2.1; 3 40.51 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (93348071..93356382)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (93442330..93449077)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

In anagenic hair follicles AHF latches onto the keratin bundles by its C-terminus and rearranges the keratin meshwork by intrinsic cohesive activity for the granule formation.
Title: Identification of the C-terminal tail domain of AHF/trichohyalin as the critical site for modulation of the keratin filamentous meshwork in the keratinocyte.
BMP-4 signalling activates AHF/THH transcription in hair follicles.
Title: Molecular elements of the regulatory control of keratin filament modulator AHF/trichohyalin in the hair follicle.
Trichohyalin is a multi-functional cross-bridging protein that functions in the inner root sheath and other specialized epithelial tissues
Title: Trichohyalin mechanically strengthens the hair follicle: multiple cross-bridging roles in the inner root shealth.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein-macromolecule adaptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in intermediate filament organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within intermediate filament organization	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: trichohyalin

Names: hair follicle protein AHF

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.

mRNA and Protein(s)

NM_001163098.2 → NP_001156570.1 trichohyalin

See identical proteins and their annotated locations for NP_001156570.1

Status: VALIDATED

Source sequence(s)

AC123859

Consensus CDS

CCDS50980.1

UniProtKB/TrEMBL

A0A0B4J1F9

Related

ENSMUSP00000069525.6, ENSMUST00000064257.6

Conserved Domains (2) summary

PTZ00121
Location:88 → 508

PTZ00121; MAEBL; Provisional

cd00213
Location:2 → 89

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 proteins are ...