Atlas of Genetics and Cytogenetics in Oncology and Haematology

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PKHD1 (polycystic kidney and hepatic disease 1 (autosomal recessive))

Identity

Other namesARPKD
FCYT
TIGM1
HGNC (Hugo) PKHD1
LocusID (NCBI) 5314
Location 6p12.3
Location_base_pair Starts at 51480145 and ends at 51952423 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

External links

Nomenclature
HGNC (Hugo)PKHD1   9016
Cards
Entrez_Gene (NCBI)PKHD1  5314  polycystic kidney and hepatic disease 1 (autosomal recessive)
GeneCards (Weizmann)PKHD1
Ensembl (Hinxton)ENSG00000170927 [Gene_View]  chr6:51480145-51952423 [Contig_View]  PKHD1 [Vega]
ICGC DataPortalENSG00000170927
cBioPortalPKHD1
AceView (NCBI)PKHD1
Genatlas (Paris)PKHD1
WikiGenes5314
SOURCE (Princeton)NM_138694 NM_170724
Genomic and cartography
GoldenPath (UCSC)PKHD1  -  6p12.3   chr6:51480145-51952423 -  6p12.3   [Description]    (hg19-Feb_2009)
EnsemblPKHD1 - 6p12.3 [CytoView]
Mapping of homologs : NCBIPKHD1 [Mapview]
OMIM263200   606702   
Gene and transcription
Genbank (Entrez)AF480064 AK091971 AK128031 AY074797 AY092083
RefSeq transcript (Entrez)NM_138694 NM_170724
RefSeq genomic (Entrez)AC_000138 NC_000006 NC_018917 NG_008753 NT_007592 NW_001838981 NW_004929326
Consensus coding sequences : CCDS (NCBI)PKHD1
Cluster EST : UnigeneHs.662050 [ NCBI ]
CGAP (NCI)Hs.662050
Alternative Splicing : Fast-db (Paris)GSHG0026675
Alternative Splicing GalleryENSG00000170927
Gene ExpressionPKHD1 [ NCBI-GEO ]     PKHD1 [ SEEK ]   PKHD1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP08F94 (Uniprot)
NextProtP08F94  [Medical]
With graphics : InterProP08F94
Splice isoforms : SwissVarP08F94 (Swissvar)
Domaine pattern : Prosite (Expaxy)G8 (PS51484)   
Domains : Interpro (EBI)G8_domain [organisation]   Ig-like_fold [organisation]   Ig_E-set [organisation]   IPT [organisation]   PbH1 [organisation]   Pectin_lyas_fold [organisation]   Pectin_lyase_fold/virulence [organisation]   PKHD1 [organisation]  
Related proteins : CluSTrP08F94
Domain families : Pfam (Sanger)G8 (PF10162)    TIG (PF01833)   
Domain families : Pfam (NCBI)pfam10162    pfam01833   
Domain families : Smart (EMBL)IPT (SM00429)  PbH1 (SM00710)  
DMDM Disease mutations5314
Blocks (Seattle)P08F94
Human Protein AtlasENSG00000170927 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP08F94
HPRD05987
IPIIPI00293274   IPI00239117   IPI00874155   
Protein Interaction databases
DIP (DOE-UCLA)P08F94
IntAct (EBI)P08F94
FunCoupENSG00000170927
BioGRIDPKHD1
InParanoidP08F94
Interologous Interaction database P08F94
IntegromeDBPKHD1
STRING (EMBL)PKHD1
Ontologies - Pathways
Ontology : AmiGOkidney development  receptor activity  protein binding  cytoplasm  centrosome  cellular calcium ion homeostasis  positive regulation of cell proliferation  regulation of centrosome duplication  integral component of membrane  apical plasma membrane  single organismal cell-cell adhesion  anchored component of external side of plasma membrane  regulation of TOR signaling  negative regulation of NF-kappaB transcription factor activity  ciliary basal body  cilium assembly  homeostatic process  negative regulation of apoptotic process  perinuclear region of cytoplasm  negative regulation of cellular component movement  negative regulation of protein kinase B signaling  extracellular vesicular exosome  regulation of ERK1 and ERK2 cascade  primary cilium  mitotic spindle  
Ontology : EGO-EBIkidney development  receptor activity  protein binding  cytoplasm  centrosome  cellular calcium ion homeostasis  positive regulation of cell proliferation  regulation of centrosome duplication  integral component of membrane  apical plasma membrane  single organismal cell-cell adhesion  anchored component of external side of plasma membrane  regulation of TOR signaling  negative regulation of NF-kappaB transcription factor activity  ciliary basal body  cilium assembly  homeostatic process  negative regulation of apoptotic process  perinuclear region of cytoplasm  negative regulation of cellular component movement  negative regulation of protein kinase B signaling  extracellular vesicular exosome  regulation of ERK1 and ERK2 cascade  primary cilium  mitotic spindle  
Protein Interaction DatabasePKHD1
Wikipedia pathwaysPKHD1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)PKHD1
snp3D : Map Gene to Disease5314
SNP (GeneSNP Utah)PKHD1
SNP : HGBasePKHD1
Genetic variants : HAPMAPPKHD1
Exome VariantPKHD1
1000_GenomesPKHD1 
ICGC programENSG00000170927 
Somatic Mutations in Cancer : COSMICPKHD1 
CONAN: Copy Number AnalysisPKHD1 
Mutations and Diseases : HGMDPKHD1
Genomic VariantsPKHD1  PKHD1 [DGVbeta]
dbVarPKHD1
ClinVarPKHD1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM263200    606702   
MedgenPKHD1
GENETestsPKHD1
Disease Genetic AssociationPKHD1
Huge Navigator PKHD1 [HugePedia]  PKHD1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGenePKHD1
Homology/Alignments : Family Browser (UCSC)PKHD1
Phylogenetic Trees/Animal Genes : TreeFamPKHD1
Chemical/Protein Interactions : CTD5314
Chemical/Pharm GKB GenePA33348
Clinical trialPKHD1
Cancer Resource (Charite)ENSG00000170927
Other databases
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
CoreMinePKHD1
iHOPPKHD1
OncoSearchPKHD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jul 26 14:43:20 CEST 2014
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