ENSG00000159450


Homo sapiens

Features
Gene ID: ENSG00000159450
  
Biological name :TCHH
  
Synonyms : Q07283 / TCHH / trichohyalin
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: q21.3
Gene start: 152106317
Gene end: 152115454
  
Corresponding Affymetrix probe sets: 213780_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000480484
Ensembl peptide - ENSP00000357794
NCBI entrez gene - 7062     See in Manteia.
OMIM - 190370
RefSeq - NM_007113
RefSeq Peptide - NP_009044
swissprot - Q07283
Ensembl - ENSG00000159450
  
Related genetic diseases (OMIM): 617252 - ?Uncombable hair syndrome 3, 617252
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CRNNENSGALG00000027316Gallus gallus
 TchhENSMUSG00000052415Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
FLG / P20930 / filaggrinENSG0000014363110
RPTN / Q6XPR3 / repetinENSG0000021585310
FLG2 / Q5D862 / filaggrin family member 2ENSG000001435209
HRNR / Q86YZ3 / hornerinENSG000001979158
Q5QJ38 / TCHHL1 / trichohyalin like 1ENSG000001828987
CRNN / Q9UBG3 / cornulinENSG000001435366


Protein motifs (from Interpro)
Interpro ID Name
 IPR001751  S100/Calbindin-D9k, conserved site
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair
 IPR013787  S100/CaBP-9k-type, calcium binding, subdomain
 IPR018247  EF-Hand 1, calcium-binding site
 IPR034325  S-100


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008150 biological_process ND
 biological_processGO:0031424 keratinization IEA
 biological_processGO:0070268 cornification TAS
 cellular_componentGO:0001533 cornified envelope TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton NAS
 molecular_functionGO:0005509 calcium ion binding TAS
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0046914 transition metal ion binding IEA


Pathways (from Reactome)
Pathway description
Formation of the cornified envelope


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0002235 Pili canaliculi "Uncombable hair." [HPO:probinson]
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 HP:0030056 Uncombable hair "Hair that is disorderly, stands out from the scalp, and cannot be combed flat." []
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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