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PCSK1 (proprotein convertase subtilisin/kexin type 1)

Identity

Alias_namesNEC1
Alias_symbol (synonym)PC1
PC3
SPC3
Other aliasBMIQ12
HGNC (Hugo) PCSK1
LocusID (NCBI) 5122
Atlas_Id 41671
Location 5q15  [Link to chromosome band 5q15]
Location_base_pair Starts at 96390336 and ends at 96433281 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PCSK1 (5q15) / EPCAM (2p21)PCSK1 (5q15) / TADA3 (3p25.3)

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)PCSK1   8743
Cards
Entrez_Gene (NCBI)PCSK1  5122  proprotein convertase subtilisin/kexin type 1
AliasesBMIQ12; NEC1; PC1; PC3; 
SPC3
GeneCards (Weizmann)PCSK1
Ensembl hg19 (Hinxton)ENSG00000175426 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000175426 [Gene_View]  chr5:96390336-96433281 [Contig_View]  PCSK1 [Vega]
ICGC DataPortalENSG00000175426
TCGA cBioPortalPCSK1
AceView (NCBI)PCSK1
Genatlas (Paris)PCSK1
WikiGenes5122
SOURCE (Princeton)PCSK1
Genetics Home Reference (NIH)PCSK1
Genomic and cartography
GoldenPath hg38 (UCSC)PCSK1  -     chr5:96390336-96433281 -  5q15   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PCSK1  -     5q15   [Description]    (hg19-Feb_2009)
EnsemblPCSK1 - 5q15 [CytoView hg19]  PCSK1 - 5q15 [CytoView hg38]
Mapping of homologs : NCBIPCSK1 [Mapview hg19]  PCSK1 [Mapview hg38]
OMIM162150   600955   612362   
Gene and transcription
Genbank (Entrez)AB208874 AK303888 AK308575 BC031211 BC130295
RefSeq transcript (Entrez)NM_000439 NM_001177875 NM_001177876
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PCSK1
Cluster EST : UnigeneHs.78977 [ NCBI ]
CGAP (NCI)Hs.78977
Alternative Splicing GalleryENSG00000175426
Gene ExpressionPCSK1 [ NCBI-GEO ]   PCSK1 [ EBI - ARRAY_EXPRESS ]   PCSK1 [ SEEK ]   PCSK1 [ MEM ]
Gene Expression Viewer (FireBrowse)PCSK1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5122
GTEX Portal (Tissue expression)PCSK1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP29120   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP29120  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP29120
Splice isoforms : SwissVarP29120
Catalytic activity : Enzyme3.4.21.93 [ Enzyme-Expasy ]   3.4.21.933.4.21.93 [ IntEnz-EBI ]   3.4.21.93 [ BRENDA ]   3.4.21.93 [ KEGG ]   
PhosPhoSitePlusP29120
Domaine pattern : Prosite (Expaxy)P_HOMO_B (PS51829)    SUBTILASE_ASP (PS00136)    SUBTILASE_HIS (PS00137)    SUBTILASE_SER (PS00138)   
Domains : Interpro (EBI)Galactose-bd-like    Kexin/furin    Peptidase_S8/S53_dom    Peptidase_S8_Asp-AS    Peptidase_S8_His-AS    Peptidase_S8_Ser-AS    Peptidase_S8_subtilisin-rel    Proho_convert    Propept_inh    PrprotnconvertsP    S8_pro-domain   
Domain families : Pfam (Sanger)P_proprotein (PF01483)    Peptidase_S8 (PF00082)    Proho_convert (PF12177)    S8_pro-domain (PF16470)   
Domain families : Pfam (NCBI)pfam01483    pfam00082    pfam12177    pfam16470   
Conserved Domain (NCBI)PCSK1
DMDM Disease mutations5122
Blocks (Seattle)PCSK1
SuperfamilyP29120
Human Protein AtlasENSG00000175426
Peptide AtlasP29120
HPRD01201
IPIIPI00301961   IPI00966801   IPI00967321   IPI00964708   
Protein Interaction databases
DIP (DOE-UCLA)P29120
IntAct (EBI)P29120
FunCoupENSG00000175426
BioGRIDPCSK1
STRING (EMBL)PCSK1
ZODIACPCSK1
Ontologies - Pathways
QuickGOP29120
Ontology : AmiGOserine-type endopeptidase activity  serine-type endopeptidase activity  extracellular space  proteolysis  cell-cell signaling  metabolic process  peptide hormone processing  transport vesicle  secretory granule lumen  peptide biosynthetic process  
Ontology : EGO-EBIserine-type endopeptidase activity  serine-type endopeptidase activity  extracellular space  proteolysis  cell-cell signaling  metabolic process  peptide hormone processing  transport vesicle  secretory granule lumen  peptide biosynthetic process  
NDEx NetworkPCSK1
Atlas of Cancer Signalling NetworkPCSK1
Wikipedia pathwaysPCSK1
Orthology - Evolution
OrthoDB5122
GeneTree (enSembl)ENSG00000175426
Phylogenetic Trees/Animal Genes : TreeFamPCSK1
HOVERGENP29120
HOGENOMP29120
Homologs : HomoloGenePCSK1
Homology/Alignments : Family Browser (UCSC)PCSK1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPCSK1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PCSK1
dbVarPCSK1
ClinVarPCSK1
1000_GenomesPCSK1 
Exome Variant ServerPCSK1
ExAC (Exome Aggregation Consortium)PCSK1 (select the gene name)
Genetic variants : HAPMAP5122
Genomic Variants (DGV)PCSK1 [DGVbeta]
DECIPHERPCSK1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPCSK1 
Mutations
ICGC Data PortalPCSK1 
TCGA Data PortalPCSK1 
Broad Tumor PortalPCSK1
OASIS PortalPCSK1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPCSK1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPCSK1
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
BioMutasearch PCSK1
DgiDB (Drug Gene Interaction Database)PCSK1
DoCM (Curated mutations)PCSK1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PCSK1 (select a term)
intoGenPCSK1
Cancer3DPCSK1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM162150    600955    612362   
Orphanet11021   
MedgenPCSK1
Genetic Testing Registry PCSK1
NextProtP29120 [Medical]
TSGene5122
GENETestsPCSK1
Target ValidationPCSK1
Huge Navigator PCSK1 [HugePedia]
snp3D : Map Gene to Disease5122
BioCentury BCIQPCSK1
ClinGenPCSK1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5122
Chemical/Pharm GKB GenePA33089
Clinical trialPCSK1
Miscellaneous
canSAR (ICR)PCSK1 (select the gene name)
Probes
Litterature
PubMed110 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePCSK1
EVEXPCSK1
GoPubMedPCSK1
iHOPPCSK1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:48:49 CEST 2017

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