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Aliases for TCHH Gene

Aliases for TCHH Gene

External Ids for TCHH Gene

Previous HGNC Symbols for TCHH Gene

  • THH

Previous GeneCards Identifiers for TCHH Gene

  • GC01U901218
  • GC01M150345
  • GC01M123456

Summaries for TCHH Gene

Entrez Gene Summary for TCHH Gene

  • Trichohyalin confers mechanical strength to the hair follicle inner root sheath and to other toughened epithelial tissues, such as the hard palate and filiform ridges of the tongue, by forming multiple complex crosslinks with itself and with other structural proteins (Steinert et al., 2003 [PubMed 12853460]).[supplied by OMIM, Dec 2009]

GeneCards Summary for TCHH Gene

TCHH (Trichohyalin) is a Protein Coding gene. Diseases associated with TCHH include monilethrix and epidermolytic hyperkeratosis. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is TCHHL1.

UniProtKB/Swiss-Prot for TCHH Gene

  • 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 KIF by isodipeptide bonds. It may serve as scaffold protein, together with involucrin, in the organization of the cell envelope or even anchor the cell envelope to the KIF network. It may be involved in its own calcium-dependent postsynthetic processing during terminal differentiation

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TCHH Gene

Genomics for TCHH Gene

Regulatory Elements for TCHH Gene

Genomic Location for TCHH Gene

Start:
152,106,317 bp from pter
End:
152,115,454 bp from pter
Size:
9,138 bases
Orientation:
Minus strand

Genomic View for TCHH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TCHH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TCHH Gene

Proteins for TCHH Gene

  • Protein details for TCHH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07283-TRHY_HUMAN
    Recommended name:
    Trichohyalin
    Protein Accession:
    Q07283
    Secondary Accessions:
    • Q5VUI3

    Protein attributes for TCHH Gene

    Size:
    1943 amino acids
    Molecular mass:
    253925 Da
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=AAA65582.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for TCHH Gene

Proteomics data for TCHH Gene at MOPED

Post-translational modifications for TCHH Gene

  • Substrate of transglutaminase. Some 200 arginines are probably converted to citrullines by peptidylarginine deimidase
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TCHH Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TCHH Gene

Domains for TCHH Gene

Gene Families for TCHH Gene

HGNC:
  • EFHAND :EF-hand domain containing

Suggested Antigen Peptide Sequences for TCHH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q07283

UniProtKB/Swiss-Prot:

TRHY_HUMAN :
  • Q07283
Domain:
  • Consists of nine domains. Domain 1 contains two EF-hand calcium-binding domains. Domains 2-4, 6, and 8 are almost entirely alpha-helical, configured as a series of peptide repeats of varying regularity, and are thought to form a single-stranded alpha-helical rod stabilized by ionic interactions. Domain 6 is the most regular and may bind KIF directly by ionic interactions. Domains 5 and 7 are less well organized and may induce folds in the molecule. Domain 9 contains the C-terminus, conserved among different species
  • Contains 2 EF-hand domains.
Family:
  • Belongs to the S100-fused protein family.
genes like me logo Genes that share domains with TCHH: view

Function for TCHH Gene

Molecular function for TCHH Gene

UniProtKB/Swiss-Prot 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 KIF by isodipeptide bonds. It may serve as scaffold protein, together with involucrin, in the organization of the cell envelope or even anchor the cell envelope to the KIF network. It may be involved in its own calcium-dependent postsynthetic processing during terminal differentiation

Gene Ontology (GO) - Molecular Function for TCHH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding TAS 7685034
genes like me logo Genes that share ontologies with TCHH: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for TCHH Gene

Localization for TCHH Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TCHH Gene COMPARTMENTS Subcellular localization image for TCHH gene
Compartment Confidence
cytoskeleton 4
plasma membrane 4
cytosol 3
endoplasmic reticulum 1
extracellular 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TCHH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005856 cytoskeleton NAS 7686953
genes like me logo Genes that share ontologies with TCHH: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TCHH Gene

Pathways for TCHH Gene

SuperPathways for TCHH Gene

No Data Available

Interacting Proteins for TCHH Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000357794%0d%0a9606.ENSP00000264059%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000357794 Q07283-TRHY_HUMAN for TCHH Gene via STRING I2D

Gene Ontology (GO) - Biological Process for TCHH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0031424 keratinization IEA --
genes like me logo Genes that share ontologies with TCHH: view

No data available for Pathways by source for TCHH Gene

Compounds for TCHH Gene

(1) HMDB Compounds for TCHH Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(3) Novoseek inferred chemical compound relationships for TCHH Gene

Compound -log(P) Hits PubMed IDs
citrulline 54.6 1
arginine 18 2
calcium 0 2
genes like me logo Genes that share compounds with TCHH: view

Transcripts for TCHH Gene

mRNA/cDNA for TCHH Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TCHH Gene

Trichohyalin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TCHH Gene

No ASD Table

Relevant External Links for TCHH Gene

GeneLoc Exon Structure for
TCHH
ECgene alternative splicing isoforms for
TCHH

Expression for TCHH Gene

mRNA expression in normal human tissues for TCHH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TCHH Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (40.2) and Skin - Sun Exposed (Lower leg) (6.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TCHH Gene

SOURCE GeneReport for Unigene cluster for TCHH Gene Hs.432416

mRNA Expression by UniProt/SwissProt for TCHH Gene

Q07283-TRHY_HUMAN
Tissue specificity: Found in the hard keratinizing tissues such as the inner root sheath (IRS) of hair follicles and medulla, and in the filiform papillae of dorsal tongue epithelium
genes like me logo Genes that share expressions with TCHH: view

Orthologs for TCHH Gene

This gene was present in the common ancestor of chordates.

Orthologs for TCHH Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia TCHH 36
  • 26 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tchh 16
Tchh 36
  • 25 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TCHH 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TCHH 36
  • 18 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRNN 36
  • 16 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 19 (a)
OneToMany
Species with no ortholog for TCHH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for TCHH Gene

ENSEMBL:
Gene Tree for TCHH (if available)
TreeFam:
Gene Tree for TCHH (if available)

Paralogs for TCHH Gene

Paralogs for TCHH Gene

Selected SIMAP similar genes for TCHH Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with TCHH: view

Variants for TCHH Gene

Sequence variations from dbSNP and Humsavar for TCHH Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs9050 -- 152,106,838(-) AGGGG(G/T)AGTGA utr-variant-3-prime
rs1131471 - 152,107,513(-) AGATA(A/C)AATCC reference, missense
rs1131473 -- 152,107,347(-) GCTTC(C/G)AGCAC utr-variant-3-prime
rs1496039 -- 152,116,299(-) CATAA(C/T)CATTA upstream-variant-2KB
rs1496040 -- 152,116,259(-) CTACA(A/G)TAATA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TCHH Gene

Variant ID Type Subtype PubMed ID
nsv872442 CNV Gain 21882294
nsv2866 CNV Insertion 18451855
nsv438037 CNV Loss 16468122
esv1225012 CNV Deletion 17803354
esv2717984 CNV Deletion 23290073
esv2815 CNV Deletion 18987735
esv2717995 CNV Deletion 23290073
esv2718006 CNV Deletion 23290073
esv2718017 CNV Deletion 23290073
dgv48e201 CNV Deletion 23290073
esv2718040 CNV Deletion 23290073
esv2666434 CNV Deletion 23128226
esv2718062 CNV Deletion 23290073
esv2718073 CNV Deletion 23290073

Relevant External Links for TCHH Gene

HapMap Linkage Disequilibrium report
TCHH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TCHH Gene

Disorders for TCHH Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for TCHH Gene including...

Search for TCHH Gene in MalaCards »

(1) University of Copenhagen DISEASES for TCHH Gene

(6) Novoseek inferred disease relationships for TCHH Gene

Disease -log(P) Hits PubMed IDs
pilomatricoma 66 3
carcinoma basal cell 44.7 1
epidermoid cyst 42.9 1
skin diseases 31.4 3
carcinoma squamous cell 0 1

Relevant External Links for TCHH

Genetic Association Database (GAD)
TCHH
Human Genome Epidemiology (HuGE) Navigator
TCHH
genes like me logo Genes that share disorders with TCHH: view

No data available for UniProtKB/Swiss-Prot for TCHH Gene

Publications for TCHH Gene

  1. Trichohyalin: a structural protein of hair, tongue, nail, and epidermis. (PMID: 7686953) O'Keefe E.J. … Steinert P.M. (J. Invest. Dermatol. 1993) 3 4 23
  2. Common variants in the trichohyalin gene are associated with straight hair in Europeans. (PMID: 19896111) Medland S.E. … Martin N.G. (Am. J. Hum. Genet. 2009) 3 23 48
  3. The structure of human trichohyalin. Potential multiple roles as a functional EF-hand-like calcium-binding protein, a cornified cell envelope precursor, and an intermediate filament-associated (cross- linking) protein. (PMID: 7685034) Lee S.-C. … Steinert P.M. (J. Biol. Chem. 1993) 3 4 23
  4. Molecular elements of the regulatory control of keratin filament modulator AHF/trichohyalin in the hair follicle. (PMID: 18643848) Yamamoto S. … Hirai Y. (Exp. Dermatol. 2009) 3 23
  5. Mapping of the trichohyalin gene: co-localization with the profilaggrin, involucrin, and loricrin genes. (PMID: 1431214) Fietz M.J. … Sutherland G.R. (J. Invest. Dermatol. 1992) 2 3

Products for TCHH Gene

Sources for TCHH Gene

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