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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

  • 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]

GeneCards Summary for TCHH Gene

TCHH (Trichohyalin) is a Protein Coding gene. Diseases associated with TCHH include Inflamed Seborrheic Keratosis and Superficial Urinary Bladder Cancer. Among its related pathways are Keratinization and Developmental Biology. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is FLG.

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 CIViC summary , 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

Enhancers for TCHH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G152070 0.8 ENCODE 11.7 +44.0 44049 0.9 HDAC1 PKNOX1 CBX3 ATF1 TBL1XR1 ZNF766 GATA2 CREM NCOA1 ZNF592 S100A11 TCHH ENSG00000226716 PUDPP2 FLG SPTLC1P4 LOC101927949
GH01G152107 1.3 Ensembl ENCODE 5.8 +5.2 5242 5.0 HDGF SIN3A FEZF1 ZNF2 ZBTB7B ZNF121 ZNF207 ZNF548 ZNF263 SP3 LYSMD1 MRPL9 ENSG00000229021 HRNR RN7SL444P TCHH PIR33217 TCHHL1
GH01G152229 0.4 ENCODE 9.8 -113.6 -113606 0.1 FOS ENSG00000236427 FLG TCHH FLG2 HRNR PIR46233
GH01G152143 0.3 FANTOM5 12.2 -28.4 -28353 0.2 HRNR ENSG00000226716 TCHH PUDPP2 S100A11 TCHHL1 ENSG00000229021 LCE3A RPTN
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TCHH on UCSC Golden Path with GeneCards custom track

Genomic Location for TCHH Gene

Chromosome:
1
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

Genes around TCHH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TCHH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 & Families for TCHH Gene

Suggested Antigen Peptide Sequences for TCHH Gene

Graphical View of Domain Structure for InterPro Entry

Q07283

UniProtKB/Swiss-Prot:

TRHY_HUMAN :
  • 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.
  • Belongs to the S100-fused protein family.
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.
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
GO:0030674 protein binding, bridging IEA --
GO:0046872 metal ion binding IEA --
GO:0046914 transition metal ion binding IEA --
genes like me logo Genes that share ontologies with TCHH: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TCHH

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

Localization for TCHH Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TCHH gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
extracellular 2
nucleus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for TCHH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope TAS --
GO:0005829 cytosol TAS --
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 & Interactions for TCHH Gene

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

Pathways by source for TCHH Gene

Interacting Proteins for TCHH Gene

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 --
GO:0045109 intermediate filament organization IEA --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with TCHH: view

No data available for SIGNOR curated interactions for TCHH Gene

Drugs & Compounds for TCHH Gene

(3) Drugs for TCHH Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TCHH

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for TCHH Gene

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

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x40.2) and Skin - Sun Exposed (Lower leg) (x6.0).

Protein differential expression in normal tissues from HIPED for TCHH Gene

This gene is overexpressed in Hair follicle (52.5) and Bone marrow mesenchymal stem cell (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TCHH Gene



NURSA nuclear receptor signaling pathways regulating expression of TCHH Gene:

TCHH

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.

Evidence on tissue expression from TISSUES for TCHH Gene

  • Spleen(2.5)
  • Blood(2.4)
  • Skin(2.3)
genes like me logo Genes that share expression patterns with TCHH: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TCHH Gene

Orthologs for TCHH Gene

This gene was present in the common ancestor of chordates.

Orthologs for TCHH Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia TCHH 35
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TCHH 35
  • 26 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tchh 35
  • 25 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TCHH 35
  • 18 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRNN 35
  • 16 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 19 (a)
OneToMany
Species where no ortholog for TCHH was found in the sources mined by GeneCards:
  • 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

(8) 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
rs201930497 Pathogenic 152,112,226(+) CTCCT(A/C/G)CTGCT reference, missense, stop-gained
rs1000292552 -- 152,115,936(+) AGCCC(C/T)GCCAG upstream-variant-2KB
rs1000444196 -- 152,115,658(+) TCAGG(A/G)TACCA upstream-variant-2KB
rs1000732136 -- 152,115,216(+) CAGTT(C/T)AAGTG intron-variant
rs1002899585 -- 152,114,485(+) TTGAG(C/T)GAAGA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv36e201 CNV deletion 23290073
esv1225012 CNV deletion 17803354
esv2666434 CNV deletion 23128226
esv2717984 CNV deletion 23290073
esv2717995 CNV deletion 23290073
esv2718006 CNV deletion 23290073
esv2718017 CNV deletion 23290073
esv2718040 CNV deletion 23290073
esv2718062 CNV deletion 23290073
esv2718073 CNV deletion 23290073
esv2815 CNV loss 18987735
nsv1007097 CNV gain 25217958
nsv2866 CNV insertion 18451855
nsv438037 CNV loss 16468122
nsv547853 CNV gain 21841781
nsv952187 CNV deletion 24416366

Variation tolerance for TCHH Gene

Residual Variation Intolerance Score: 80.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.33; 81.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TCHH Gene

Human Gene Mutation Database (HGMD)
TCHH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TCHH

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

Disorders for TCHH Gene

MalaCards: The human disease database

(9) MalaCards diseases for TCHH Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
inflamed seborrheic keratosis
superficial urinary bladder cancer
  • superficial urinary bladder carcinoma
anterior spinal artery syndrome
  • anterior spinal artery occlusion syndrome
uncombable hair syndrome
  • cheveux incoiffables
brown-sequard syndrome
  • brown-squard syndrome
- elite association - COSMIC cancer census association via MalaCards
Search TCHH in MalaCards View complete list of genes associated with diseases

Relevant External Links for TCHH

Genetic Association Database (GAD)
TCHH
Human Genome Epidemiology (HuGE) Navigator
TCHH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TCHH
genes like me logo Genes that share disorders with TCHH: view

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

Publications for TCHH Gene

  1. 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 22 46 64
  2. 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 22 64
  3. 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 22 64
  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 22 64
  5. Human trichohyalin gene is clustered with the genes for other epidermal structural proteins and calcium-binding proteins at chromosomal locus 1q21. (PMID: 8423399) Lee S.C. … Steinert P.M. (J. Invest. Dermatol. 1993) 3 22 64

Products for TCHH Gene

Sources for TCHH Gene

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