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PDZK1 (PDZ domain containing 1)

Identity

Alias_symbol (synonym)PDZD1
NHERF3
Other aliasCAP70
CLAMP
NHERF-3
HGNC (Hugo) PDZK1
LocusID (NCBI) 5174
Atlas_Id 41687
Location 1q21.1  [Link to chromosome band 1q21]
Location_base_pair Starts at 145670853 and ends at 145707400 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PDZK1 (1q21.1) / ZFX (Xp22.11)

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)PDZK1   8821
Cards
Entrez_Gene (NCBI)PDZK1  5174  PDZ domain containing 1
AliasesCAP70; CLAMP; NHERF-3; NHERF3; 
PDZD1
GeneCards (Weizmann)PDZK1
Ensembl hg19 (Hinxton)ENSG00000174827 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000174827 [Gene_View]  chr1:145670853-145707400 [Contig_View]  PDZK1 [Vega]
ICGC DataPortalENSG00000174827
TCGA cBioPortalPDZK1
AceView (NCBI)PDZK1
Genatlas (Paris)PDZK1
WikiGenes5174
SOURCE (Princeton)PDZK1
Genetics Home Reference (NIH)PDZK1
Genomic and cartography
GoldenPath hg38 (UCSC)PDZK1  -     chr1:145670853-145707400 -  1q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PDZK1  -     1q21.1   [Description]    (hg19-Feb_2009)
EnsemblPDZK1 - 1q21.1 [CytoView hg19]  PDZK1 - 1q21.1 [CytoView hg38]
Mapping of homologs : NCBIPDZK1 [Mapview hg19]  PDZK1 [Mapview hg38]
OMIM603831   
Gene and transcription
Genbank (Entrez)AF012281 AK298269 AK313100 AM393525 BC006496
RefSeq transcript (Entrez)NM_001201325 NM_001201326 NM_002614
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PDZK1
Cluster EST : UnigeneHs.732345 [ NCBI ]
CGAP (NCI)Hs.732345
Alternative Splicing GalleryENSG00000174827
Gene ExpressionPDZK1 [ NCBI-GEO ]   PDZK1 [ EBI - ARRAY_EXPRESS ]   PDZK1 [ SEEK ]   PDZK1 [ MEM ]
Gene Expression Viewer (FireBrowse)PDZK1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5174
GTEX Portal (Tissue expression)PDZK1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5T2W1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5T2W1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5T2W1
Splice isoforms : SwissVarQ5T2W1
PhosPhoSitePlusQ5T2W1
Domaine pattern : Prosite (Expaxy)PDZ (PS50106)   
Domains : Interpro (EBI)PDZ   
Domain families : Pfam (Sanger)PDZ (PF00595)   
Domain families : Pfam (NCBI)pfam00595   
Domain families : Smart (EMBL)PDZ (SM00228)  
Conserved Domain (NCBI)PDZK1
DMDM Disease mutations5174
Blocks (Seattle)PDZK1
PDB (SRS)2EEI    2EEJ    2VSP    3TMH    4Q2P   
PDB (PDBSum)2EEI    2EEJ    2VSP    3TMH    4Q2P   
PDB (IMB)2EEI    2EEJ    2VSP    3TMH    4Q2P   
PDB (RSDB)2EEI    2EEJ    2VSP    3TMH    4Q2P   
Structural Biology KnowledgeBase2EEI    2EEJ    2VSP    3TMH    4Q2P   
SCOP (Structural Classification of Proteins)2EEI    2EEJ    2VSP    3TMH    4Q2P   
CATH (Classification of proteins structures)2EEI    2EEJ    2VSP    3TMH    4Q2P   
SuperfamilyQ5T2W1
Human Protein AtlasENSG00000174827
Peptide AtlasQ5T2W1
HPRD04829
IPIIPI00298067   IPI00908590   IPI00641498   
Protein Interaction databases
DIP (DOE-UCLA)Q5T2W1
IntAct (EBI)Q5T2W1
FunCoupENSG00000174827
BioGRIDPDZK1
STRING (EMBL)PDZK1
ZODIACPDZK1
Ontologies - Pathways
QuickGOQ5T2W1
Ontology : AmiGOscavenger receptor binding  transporter activity  protein binding  plasma membrane  transport  cell proliferation  carnitine transport  drug transport  apical plasma membrane  PDZ domain binding  brush border membrane  microvillus membrane  protein complex binding  positive regulation of ion transmembrane transport  regulation of anion transport  membrane raft  extracellular exosome  positive regulation of protein targeting to membrane  
Ontology : EGO-EBIscavenger receptor binding  transporter activity  protein binding  plasma membrane  transport  cell proliferation  carnitine transport  drug transport  apical plasma membrane  PDZ domain binding  brush border membrane  microvillus membrane  protein complex binding  positive regulation of ion transmembrane transport  regulation of anion transport  membrane raft  extracellular exosome  positive regulation of protein targeting to membrane  
Pathways : BIOCARTADownregulated of MTA-3 in ER-negative Breast Tumors [Genes]   
NDEx NetworkPDZK1
Atlas of Cancer Signalling NetworkPDZK1
Wikipedia pathwaysPDZK1
Orthology - Evolution
OrthoDB5174
GeneTree (enSembl)ENSG00000174827
Phylogenetic Trees/Animal Genes : TreeFamPDZK1
HOVERGENQ5T2W1
HOGENOMQ5T2W1
Homologs : HomoloGenePDZK1
Homology/Alignments : Family Browser (UCSC)PDZK1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPDZK1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PDZK1
dbVarPDZK1
ClinVarPDZK1
1000_GenomesPDZK1 
Exome Variant ServerPDZK1
ExAC (Exome Aggregation Consortium)PDZK1 (select the gene name)
Genetic variants : HAPMAP5174
Genomic Variants (DGV)PDZK1 [DGVbeta]
DECIPHERPDZK1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPDZK1 
Mutations
ICGC Data PortalPDZK1 
TCGA Data PortalPDZK1 
Broad Tumor PortalPDZK1
OASIS PortalPDZK1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPDZK1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPDZK1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PDZK1
DgiDB (Drug Gene Interaction Database)PDZK1
DoCM (Curated mutations)PDZK1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PDZK1 (select a term)
intoGenPDZK1
Cancer3DPDZK1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603831   
Orphanet
MedgenPDZK1
Genetic Testing Registry PDZK1
NextProtQ5T2W1 [Medical]
TSGene5174
GENETestsPDZK1
Target ValidationPDZK1
Huge Navigator PDZK1 [HugePedia]
snp3D : Map Gene to Disease5174
BioCentury BCIQPDZK1
ClinGenPDZK1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5174
Chemical/Pharm GKB GenePA33165
Clinical trialPDZK1
Miscellaneous
canSAR (ICR)PDZK1 (select the gene name)
Probes
Litterature
PubMed85 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePDZK1
EVEXPDZK1
GoPubMedPDZK1
iHOPPDZK1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:49:03 CEST 2017

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