ENSG00000162736


Homo sapiens

Features
Gene ID: ENSG00000162736
  
Biological name :NCSTN
  
Synonyms : NCSTN / nicastrin / Q92542
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q23.2
Gene start: 160343272
Gene end: 160358952
  
Corresponding Affymetrix probe sets: 208759_at (Human Genome U133 Plus 2.0 Array)   237076_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000495179
Ensembl peptide - ENSP00000415442
Ensembl peptide - ENSP00000493689
Ensembl peptide - ENSP00000294785
Ensembl peptide - ENSP00000357042
Ensembl peptide - ENSP00000388118
Ensembl peptide - ENSP00000389370
Ensembl peptide - ENSP00000390409
Ensembl peptide - ENSP00000407849
Ensembl peptide - ENSP00000410124
NCBI entrez gene - 23385     See in Manteia.
OMIM - 605254
RefSeq - XM_011509363
RefSeq - NM_001290184
RefSeq - NM_001290186
RefSeq - NM_015331
RefSeq - XM_005245053
RefSeq Peptide - NP_001277113
RefSeq Peptide - NP_001277115
RefSeq Peptide - NP_056146
swissprot - Q5T205
swissprot - Q5T209
swissprot - Q5T210
swissprot - H0Y6T7
swissprot - Q5T211
swissprot - Q92542
swissprot - H0Y3Z4
Ensembl - ENSG00000162736
  
Related genetic diseases (OMIM): 142690 - Acne inversa, familial, 1, 142690
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
 CABZ01110881.1ENSDARG00000103284Danio rerio
 NCSTNENSGALG00000009147Gallus gallus
 NcstnENSMUSG00000003458Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR008710  Nicastrin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002262 myeloid cell homeostasis IEA
 biological_processGO:0006508 proteolysis NAS
 biological_processGO:0006509 membrane protein ectodomain proteolysis IDA
 biological_processGO:0007219 Notch signaling pathway TAS
 biological_processGO:0007220 Notch receptor processing TAS
 biological_processGO:0016485 protein processing IEA
 biological_processGO:0031293 membrane protein intracellular domain proteolysis TAS
 biological_processGO:0034205 amyloid-beta formation IMP
 biological_processGO:0035333 Notch receptor processing, ligand-dependent TAS
 biological_processGO:0042098 T cell proliferation IEA
 biological_processGO:0042982 amyloid precursor protein metabolic process IDA
 biological_processGO:0042987 amyloid precursor protein catabolic process TAS
 biological_processGO:0043065 positive regulation of apoptotic process TAS
 biological_processGO:0043085 positive regulation of catalytic activity IDA
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0048013 ephrin receptor signaling pathway TAS
 biological_processGO:0050435 amyloid-beta metabolic process IEA
 biological_processGO:0050673 epithelial cell proliferation IEA
 cellular_componentGO:0005765 lysosomal membrane HDA
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IDA
 cellular_componentGO:0005925 focal adhesion HDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0035577 azurophil granule membrane TAS
 cellular_componentGO:0042470 melanosome IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0070765 gamma-secretase complex IDA
 molecular_functionGO:0004175 endopeptidase activity IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008233 peptidase activity IEA


Pathways (from Reactome)
Pathway description
Nuclear signaling by ERBB4
Degradation of the extracellular matrix
Regulated proteolysis of p75NTR
NRIF signals cell death from the nucleus
Activated NOTCH1 Transmits Signal to the Nucleus
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
NOTCH2 Activation and Transmission of Signal to the Nucleus
EPH-ephrin mediated repulsion of cells
Neutrophil degranulation
NOTCH3 Activation and Transmission of Signal to the Nucleus
NOTCH4 Activation and Transmission of Signal to the Nucleus
Noncanonical activation of NOTCH3


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000987 Scarring 
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 HP:0040154 Acne inversa 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000205155 PSENEN / Q9NZ42 / presenilin enhancer gamma-secretase subunit  / complex
 ENSG00000117362 APH1A / Q96BI3 / aph-1 homolog A, gamma-secretase subunit  / complex
 ENSG00000138613 APH1B / Q8WW43 / aph-1 homolog B, gamma-secretase subunit  / complex
 ENSG00000134259 NGF / P01138 / nerve growth factor  / reaction
 ENSG00000142856 Q13352 / ITGB3BP / integrin subunit beta 3 binding protein  / reaction
 ENSG00000039068 CDH1 / P12830 / cadherin 1  / reaction
 ENSG00000175104 TRAF6 / Q9Y4K3 / TNF receptor associated factor 6  / reaction
 ENSG00000064300 NGFR / P08138 / nerve growth factor receptor  / reaction
 ENSG00000080815 PSEN1 / P49768 / presenilin 1  / complex
 ENSG00000178568 ERBB4 / Q15303 / erb-b2 receptor tyrosine kinase 4  / reaction
 ENSG00000142192 APP / P05067 / amyloid beta precursor protein  / reaction
 ENSG00000143801 PSEN2 / P49810 / presenilin 2  / complex






 

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