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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 Uncombable Hair Syndrome 3 and Pilomatrix Carcinoma. Among its related pathways are Keratinization and Developmental Biology. Gene Ontology (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.

Additional gene information for TCHH Gene

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

GeneHancer (GH) Regulatory Elements for TCHH Gene

Promoters and enhancers for TCHH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J152070 Enhancer 0.8 ENCODE 11.7 +44.0 44049 0.9 HDAC1 PKNOX1 ATF1 ZNF766 GATA2 ATF7 BCLAF1 CREM NCOA1 ZNF592 S100A11 TCHH ENSG00000226716 PUDPP2 FLG SPTLC1P4 LOC101927949
GH01J152107 Enhancer 1.2 Ensembl ENCODE 5.8 +5.2 5242 5 HDGF NEUROD1 SIN3A FEZF1 ZNF2 ZBTB7B YY1 ZNF121 E2F8 ZNF207 POGZ PI4KB PIP5K1A MRPL9 HRNR LYSMD1 ZNF687 ENSG00000229021 RN7SL444P TCHH
GH01J152143 Enhancer 0.3 FANTOM5 12.2 -28.4 -28353 0.2 CTCF HRNR ENSG00000226716 TCHH PUDPP2 S100A11 TCHHL1 ENSG00000229021 LCE3A RPTN
GH01J152229 Enhancer 0.3 ENCODE 9.8 -113.6 -113606 0.1 FOS ENSG00000236427 FLG TCHH FLG2 HRNR FLG-AS1 PIR46233
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TCHH on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TCHH gene promoter:
  • Chx10
  • Nkx2-5
  • NCX
  • C/EBPalpha
  • HFH-1
  • LyF-1
  • SRF
  • SRF (504 AA)
  • STAT5A
  • ATF6

Genomic Locations for TCHH Gene

Genomic Locations for TCHH Gene
chr1:152,106,317-152,115,454
(GRCh38/hg38)
Size:
9,138 bases
Orientation:
Minus strand
chr1:152,078,793-152,086,556
(GRCh37/hg19)
Size:
7,764 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

Gene Families for TCHH Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

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.

Phenotypes From GWAS Catalog for TCHH Gene

Gene Ontology (GO) - Molecular Function for TCHH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding TAS 7685034
GO:0046872 metal ion binding IEA --
GO:0046914 transition metal ion binding IEA --
genes like me logo Genes that share ontologies with TCHH: view

Human Phenotype Ontology for TCHH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , 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 and Subcellular locations from the Human Protein Atlas (HPA) 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: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 Approved 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:

Clone Products

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 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

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 34
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TCHH 34
  • 26 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tchh 34
  • 25 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TCHH 34
  • 18 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRNN 34
  • 16 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TCHH: view image

Paralogs for TCHH Gene

Paralogs for TCHH Gene

(8) SIMAP similar genes for TCHH Gene using alignment to 3 proteins:

  • TRHY_HUMAN
  • A2RRS3_HUMAN
  • L8ECD7_HUMAN
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 Variation AA Info Type
rs201930497 pathogenic, Uncombable hair syndrome 3 152,112,226(-) G/A/C coding_sequence_variant, missense_variant, stop_gained
rs1000292552 -- 152,115,936(-) T/C upstream_transcript_variant
rs1000444196 -- 152,115,658(-) G/A upstream_transcript_variant
rs1000732136 -- 152,115,216(-) C/T intron_variant
rs1002899585 -- 152,114,485(-) C/T 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)

Additional Variant Information for TCHH Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for TCHH Gene

MalaCards: The human disease database

(16) MalaCards diseases for TCHH Gene - From: HGMD, OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
uncombable hair syndrome 3
  • uhs3
pilomatrix carcinoma
  • malignant pilomatricoma
inflamed seborrheic keratosis
pilomatrixoma
  • pilomatricoma; ptr
superficial urinary bladder cancer
  • superficial urinary bladder carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search TCHH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TRHY_HUMAN
  • Uncombable hair syndrome 3 (UHS3) [MIM:617252]: 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. {ECO:0000269 PubMed:27866708}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TCHH

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

No data available for 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 SE … Martin NG (American journal of human genetics 2009) 3 22 44 58
  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 SC … Steinert PM (The Journal of biological chemistry 1993) 3 4 22 58
  3. Trichohyalin: a structural protein of hair, tongue, nail, and epidermis. (PMID: 7686953) O'Keefe EJ … Steinert P (The Journal of investigative dermatology 1993) 3 4 22 58
  4. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. (PMID: 27866708) Ü Basmanav FB … Betz RC (American journal of human genetics 2016) 3 4 58
  5. Molecular elements of the regulatory control of keratin filament modulator AHF/trichohyalin in the hair follicle. (PMID: 18643848) Yamamoto S … Hirai Y (Experimental dermatology 2009) 3 22 58

Products for TCHH Gene

Sources for TCHH Gene

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