ENSG00000105141


Homo sapiens

Features
Gene ID: ENSG00000105141
  
Biological name :CASP14
  
Synonyms : CASP14 / caspase 14 / P31944
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: p13.12
Gene start: 15049384
Gene end: 15058293
  
Corresponding Affymetrix probe sets: 231722_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000393417
NCBI entrez gene - 23581     See in Manteia.
OMIM - 605848
RefSeq - XM_011527861
RefSeq - NM_012114
RefSeq Peptide - NP_036246
swissprot - P31944
swissprot - B2CIS9
Ensembl - ENSG00000105141
  
Related genetic diseases (OMIM): 617320 - Ichthyosis, congenital, autosomal recessive 12, 617320
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
 Casp14ENSMUSG00000005355Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CASP3 / P42574 / caspase 3ENSG0000016430532
CASP8 / Q14790 / caspase 8ENSG0000006401230
CASP9 / P55211 / caspase 9ENSG0000013290629
CASP2 / P42575 / caspase 2ENSG0000010614429
CASP7 / P55210 / caspase 7ENSG0000016580629
CASP6 / P55212 / caspase 6ENSG0000013879428
CASP10 / Q92851 / caspase 10ENSG0000000340028


Protein motifs (from Interpro)
Interpro ID Name
 IPR001309  Peptidase C14, p20 domain
 IPR002138  Peptidase C14, caspase non-catalytic subunit p10
 IPR015917  Peptidase C14A, caspase catalytic domain
 IPR029030  Caspase-like domain superfamily
 IPR033139  Peptidase family C14A, cysteine active site
 IPR033174  Caspase-14


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0008544 epidermis development TAS
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0031424 keratinization TAS
 biological_processGO:0070268 cornification TAS
 biological_processGO:0097194 execution phase of apoptosis IBA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0045095 keratin filament IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0004175 endopeptidase activity TAS
 molecular_functionGO:0004197 cysteine-type endopeptidase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008234 cysteine-type peptidase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0097200 cysteine-type endopeptidase activity involved in execution phase of apoptosis IBA


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:0040190 White scaling skin 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000105141 CASP14 / P31944 / caspase 14  / complex
 ENSG00000163202 LCE3D / Q9BYE3 / late cornified envelope 3D  / reaction
 ENSG00000186844 LCE1A / Q5T7P2 / late cornified envelope 1A  / reaction
 ENSG00000143631 FLG / P20930 / filaggrin  / reaction






 

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