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NCSTN (nicastrin)

Identity

Other namesATAG1874
HGNC (Hugo) NCSTN
LocusID (NCBI) 23385
Location 1q23.2
Location_base_pair Starts at 160313063 and ends at 160328742 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)NCSTN   17091
Cards
Entrez_Gene (NCBI)NCSTN  23385  nicastrin
GeneCards (Weizmann)NCSTN
Ensembl (Hinxton)ENSG00000162736 [Gene_View]  chr1:160313063-160328742 [Contig_View]  NCSTN [Vega]
ICGC DataPortalENSG00000162736
AceView (NCBI)NCSTN
Genatlas (Paris)NCSTN
WikiGenes23385
SOURCE (Princeton)NM_001290184 NM_001290186 NM_015331
Genomic and cartography
GoldenPath (UCSC)NCSTN  -  1q23.2   chr1:160313063-160328742 +  1q23.2   [Description]    (hg19-Feb_2009)
EnsemblNCSTN - 1q23.2 [CytoView]
Mapping of homologs : NCBINCSTN [Mapview]
OMIM142690   605254   
Gene and transcription
Genbank (Entrez)AF240468 AK296153 AK299142 AK310741 AK314764
RefSeq transcript (Entrez)NM_001290184 NM_001290186 NM_015331
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_027935 NT_004487 NW_001838531 NW_004929293
Consensus coding sequences : CCDS (NCBI)NCSTN
Cluster EST : UnigeneHs.517249 [ NCBI ]
CGAP (NCI)Hs.517249
Alternative Splicing : Fast-db (Paris)GSHG0001090
Alternative Splicing GalleryENSG00000162736
Gene ExpressionNCSTN [ NCBI-GEO ]     NCSTN [ SEEK ]   NCSTN [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92542 (Uniprot)
NextProtQ92542  [Medical]
With graphics : InterProQ92542
Splice isoforms : SwissVarQ92542 (Swissvar)
Domains : Interpro (EBI)Nicastrin   
Related proteins : CluSTrQ92542
Domain families : Pfam (Sanger)Nicastrin (PF05450)   
Domain families : Pfam (NCBI)pfam05450   
DMDM Disease mutations23385
Blocks (Seattle)Q92542
Human Protein AtlasENSG00000162736
Peptide AtlasQ92542
HPRD05584
IPIIPI00021983   IPI00375688   IPI00515093   IPI01010317   IPI00514793   IPI00514580   IPI00514703   IPI00513841   IPI00514877   
Protein Interaction databases
DIP (DOE-UCLA)Q92542
IntAct (EBI)Q92542
FunCoupENSG00000162736
BioGRIDNCSTN
IntegromeDBNCSTN
STRING (EMBL)NCSTN
Ontologies - Pathways
QuickGOQ92542
Ontology : AmiGOmyeloid cell homeostasis  endopeptidase activity  protein binding  lysosomal membrane  endoplasmic reticulum  endoplasmic reticulum  Golgi apparatus  Golgi apparatus  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  proteolysis  membrane protein ectodomain proteolysis  membrane protein ectodomain proteolysis  Notch signaling pathway  Notch receptor processing  membrane  integral component of membrane  protein processing  protein processing  extracellular matrix disassembly  extracellular matrix organization  membrane protein intracellular domain proteolysis  T cell proliferation  melanosome  amyloid precursor protein catabolic process  positive regulation of apoptotic process  positive regulation of catalytic activity  positive regulation of catalytic activity  neurotrophin TRK receptor signaling pathway  beta-amyloid metabolic process  epithelial cell proliferation  extracellular vesicular exosome  apoptotic signaling pathway  
Ontology : EGO-EBImyeloid cell homeostasis  endopeptidase activity  protein binding  lysosomal membrane  endoplasmic reticulum  endoplasmic reticulum  Golgi apparatus  Golgi apparatus  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  proteolysis  membrane protein ectodomain proteolysis  membrane protein ectodomain proteolysis  Notch signaling pathway  Notch receptor processing  membrane  integral component of membrane  protein processing  protein processing  extracellular matrix disassembly  extracellular matrix organization  membrane protein intracellular domain proteolysis  T cell proliferation  melanosome  amyloid precursor protein catabolic process  positive regulation of apoptotic process  positive regulation of catalytic activity  positive regulation of catalytic activity  neurotrophin TRK receptor signaling pathway  beta-amyloid metabolic process  epithelial cell proliferation  extracellular vesicular exosome  apoptotic signaling pathway  
Pathways : KEGGNotch signaling pathway    Alzheimer's disease   
Protein Interaction DatabaseNCSTN
Wikipedia pathwaysNCSTN
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)NCSTN
SNP (GeneSNP Utah)NCSTN
SNP : HGBaseNCSTN
Genetic variants : HAPMAPNCSTN
1000_GenomesNCSTN 
ICGC programENSG00000162736 
CONAN: Copy Number AnalysisNCSTN 
Somatic Mutations in Cancer : COSMICNCSTN 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
DECIPHER (Syndromes)1:160313063-160328742
Mutations and Diseases : HGMDNCSTN
OMIM142690    605254   
MedgenNCSTN
GENETestsNCSTN
Disease Genetic AssociationNCSTN
Huge Navigator NCSTN [HugePedia]  NCSTN [HugeCancerGEM]
Genomic VariantsNCSTN  NCSTN [DGVbeta]
Exome VariantNCSTN
dbVarNCSTN
ClinVarNCSTN
snp3D : Map Gene to Disease23385
General knowledge
Homologs : HomoloGeneNCSTN
Homology/Alignments : Family Browser (UCSC)NCSTN
Phylogenetic Trees/Animal Genes : TreeFamNCSTN
Chemical/Protein Interactions : CTD23385
Chemical/Pharm GKB GenePA142671271
Clinical trialNCSTN
Cancer Resource (Charite)ENSG00000162736
Other databases
Probes
Litterature
PubMed111 Pubmed reference(s) in Entrez
CoreMineNCSTN
GoPubMedNCSTN
iHOPNCSTN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Nov 8 17:44:27 CET 2014

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