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PCDH1 (protocadherin 1)

Identity

Alias_namesprotocadherin 1 (cadherin-like 1)
Alias_symbol (synonym)pc42
Other aliasPC42
PCDH42
HGNC (Hugo) PCDH1
LocusID (NCBI) 5097
Atlas_Id 41663
Location 5q31.3  [Link to chromosome band 5q31]
Location_base_pair Starts at 141242217 and ends at 141249192 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ANKHD1 (5q31.3) / PCDH1 (5q31.3)PCDH1 (5q31.3) / PCDH1 (5q31.3)

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)PCDH1   8655
Cards
Entrez_Gene (NCBI)PCDH1  5097  protocadherin 1
AliasesPC42; PCDH42
GeneCards (Weizmann)PCDH1
Ensembl hg19 (Hinxton)ENSG00000156453 [Gene_View]  chr5:141242217-141249192 [Contig_View]  PCDH1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000156453 [Gene_View]  chr5:141242217-141249192 [Contig_View]  PCDH1 [Vega]
ICGC DataPortalENSG00000156453
TCGA cBioPortalPCDH1
AceView (NCBI)PCDH1
Genatlas (Paris)PCDH1
WikiGenes5097
SOURCE (Princeton)PCDH1
Genetics Home Reference (NIH)PCDH1
Genomic and cartography
GoldenPath hg19 (UCSC)PCDH1  -     chr5:141242217-141249192 -  5q31.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PCDH1  -     5q31.3   [Description]    (hg38-Dec_2013)
EnsemblPCDH1 - 5q31.3 [CytoView hg19]  PCDH1 - 5q31.3 [CytoView hg38]
Mapping of homologs : NCBIPCDH1 [Mapview hg19]  PCDH1 [Mapview hg38]
OMIM603626   
Gene and transcription
Genbank (Entrez)AK075233 AK289512 AK300564 AK304231 AK308338
RefSeq transcript (Entrez)NM_001278613 NM_001278615 NM_002587 NM_032420
RefSeq genomic (Entrez)NC_000005 NC_018916 NT_029289 NW_004929324
Consensus coding sequences : CCDS (NCBI)PCDH1
Cluster EST : UnigeneHs.79769 [ NCBI ]
CGAP (NCI)Hs.79769
Alternative Splicing GalleryENSG00000156453
Gene ExpressionPCDH1 [ NCBI-GEO ]   PCDH1 [ EBI - ARRAY_EXPRESS ]   PCDH1 [ SEEK ]   PCDH1 [ MEM ]
Gene Expression Viewer (FireBrowse)PCDH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5097
GTEX Portal (Tissue expression)PCDH1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ08174   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ08174  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ08174
Splice isoforms : SwissVarQ08174
PhosPhoSitePlusQ08174
Domaine pattern : Prosite (Expaxy)CADHERIN_1 (PS00232)    CADHERIN_2 (PS50268)   
Domains : Interpro (EBI)Cadherin    Cadherin-like    Cadherin_CS    Protocadherin   
Domain families : Pfam (Sanger)Cadherin (PF00028)    Protocadherin (PF08374)   
Domain families : Pfam (NCBI)pfam00028    pfam08374   
Domain families : Smart (EMBL)CA (SM00112)  
Conserved Domain (NCBI)PCDH1
DMDM Disease mutations5097
Blocks (Seattle)PCDH1
SuperfamilyQ08174
Human Protein AtlasENSG00000156453
Peptide AtlasQ08174
HPRD04692
IPIIPI00000024   IPI00872579   IPI00914969   IPI00964741   IPI00968042   IPI00965876   IPI00966605   IPI00967089   
Protein Interaction databases
DIP (DOE-UCLA)Q08174
IntAct (EBI)Q08174
FunCoupENSG00000156453
BioGRIDPCDH1
STRING (EMBL)PCDH1
ZODIACPCDH1
Ontologies - Pathways
QuickGOQ08174
Ontology : AmiGOcalcium ion binding  plasma membrane  integral component of plasma membrane  cell-cell junction  homophilic cell adhesion via plasma membrane adhesion molecules  cell-cell signaling  nervous system development  
Ontology : EGO-EBIcalcium ion binding  plasma membrane  integral component of plasma membrane  cell-cell junction  homophilic cell adhesion via plasma membrane adhesion molecules  cell-cell signaling  nervous system development  
NDEx NetworkPCDH1
Atlas of Cancer Signalling NetworkPCDH1
Wikipedia pathwaysPCDH1
Orthology - Evolution
OrthoDB5097
GeneTree (enSembl)ENSG00000156453
Phylogenetic Trees/Animal Genes : TreeFamPCDH1
HOVERGENQ08174
HOGENOMQ08174
Homologs : HomoloGenePCDH1
Homology/Alignments : Family Browser (UCSC)PCDH1
Gene fusions - Rearrangements
Fusion : MitelmanANKHD1/PCDH1 [5q31.3/5q31.3]  [t(5;5)(q31;q31)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPCDH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PCDH1
dbVarPCDH1
ClinVarPCDH1
1000_GenomesPCDH1 
Exome Variant ServerPCDH1
ExAC (Exome Aggregation Consortium)PCDH1 (select the gene name)
Genetic variants : HAPMAP5097
Genomic Variants (DGV)PCDH1 [DGVbeta]
DECIPHER (Syndromes)5:141242217-141249192  ENSG00000156453
CONAN: Copy Number AnalysisPCDH1 
Mutations
ICGC Data PortalPCDH1 
TCGA Data PortalPCDH1 
Broad Tumor PortalPCDH1
OASIS PortalPCDH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPCDH1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPCDH1
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 PCDH1
DgiDB (Drug Gene Interaction Database)PCDH1
DoCM (Curated mutations)PCDH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PCDH1 (select a term)
intoGenPCDH1
Cancer3DPCDH1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603626   
Orphanet
MedgenPCDH1
Genetic Testing Registry PCDH1
NextProtQ08174 [Medical]
TSGene5097
GENETestsPCDH1
Huge Navigator PCDH1 [HugePedia]
snp3D : Map Gene to Disease5097
BioCentury BCIQPCDH1
ClinGenPCDH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5097
Chemical/Pharm GKB GenePA32994
Clinical trialPCDH1
Miscellaneous
canSAR (ICR)PCDH1 (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePCDH1
EVEXPCDH1
GoPubMedPCDH1
iHOPPCDH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:20:35 CET 2017

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