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
Entrez_Gene (NCBI)PKHD1  5314  polycystic kidney and hepatic disease 1 (autosomal recessive)
Cards
GeneCards (Weizmann)PKHD1
Ensembl (Hinxton)ENSG00000170927 [Gene_View]  chr6:51480145-51952423 [Contig_View]  PKHD1 [Vega]
AceView (NCBI)PKHD1
Genatlas (Paris)PKHD1
SOURCE (Stanford)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 (SRS)NM_138694 NM_170724
RefSeq transcript (Entrez)NM_138694 NM_170724
RefSeq genomic (SRS)AC_000138 NC_000006 NC_018917 NG_008753 NT_007592 NW_001838981 NW_004929326
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 [ SRS ] Hs.662050 [ NCBI ]
CGAP (NCI)Hs.662050
Alternative Splicing : Fast-db (Paris)GSHG0026675
Alternative Splicing GalleryENSG00000170927
Gene ExpressionPKHD1 [ NCBI-GEO ]   PKHD1 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP08F94 (SRS) P08F94 (Uniprot)
NextProtP08F94  [Medical]
With graphics : InterProP08F94
Splice isoforms : SwissVarP08F94(Swissvar)
Domaine pattern : Prosite (SRS)G8 (PS51484)   
Domaine pattern : Prosite (Expaxy)G8 (PS51484)   
Domains : Interpro (SRS)G8_domain    Ig-like_fold    Ig_E-set    IPT    PbH1    Pectin_lyas_fold    Pectin_lyase_fold/virulence   
Domains : Interpro (EBI)G8_domain    Ig-like_fold    Ig_E-set    IPT    PbH1    Pectin_lyas_fold    Pectin_lyase_fold/virulence   
Related proteins : CluSTrP08F94
Domain families : Pfam (SRS)G8 (PF10162)    TIG (PF01833)   
Domain families : Pfam (Sanger)G8 (PF10162)    TIG (PF01833)   
Domain families : Pfam (NCBI)pfam10162    pfam01833   
Domain families : Smart (EMBL)IPT (SM00429)  PbH1 (SM00710)  
DMDM5314
Blocks (Seattle)P08F94
Human Protein AtlasENSG00000170927
HPRD05987
IPIIPI00293274   IPI00239117   IPI00874155   
Protein Interaction databases
DIP (DOE-UCLA)P08F94
IntAct (EBI)P08F94
FunCoupENSG00000170927
REACTOMEPKHD1
Protein Interaction Database5314
BioGRIDPKHD1
InParanoidP08F94
Interologous Interaction database P08F94
IntegromeDBPKHD1
Gene fusion - rearrangments
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)PKHD1
SNP (GeneSNP Utah)PKHD1
SNP : HGBasePKHD1
Genetic variants : HAPMAPPKHD1
Somatic Mutations in Cancer : COSMICPKHD1 
CONAN: Copy Number AnalysisPKHD1 
Mutations and Diseases : HGMDPKHD1
OMIM263200    606702   
GENETests263200    606702   
Disease Genetic AssociationPKHD1
Huge Navigator PKHD1 [HugePedia]  PKHD1 [HugeCancerGEM]
Genomic VariantsPKHD1  PKHD1 [DGVbeta]
ClinVarPKHD1
snp3D : Map Gene to Disease5314
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
Ontology : AmiGOkidney development  receptor activity  protein binding  cytoplasm  centrosome  microtubule basal body  regulation of centrosome duplication  integral to membrane  apical plasma membrane  cell-cell adhesion  anchored to external side of plasma membrane  cilium assembly  homeostatic process  negative regulation of cellular component movement  primary cilium  mitotic spindle  
Ontology : EGO-EBIkidney development  receptor activity  protein binding  cytoplasm  centrosome  microtubule basal body  regulation of centrosome duplication  integral to membrane  apical plasma membrane  cell-cell adhesion  anchored to external side of plasma membrane  cilium assembly  homeostatic process  negative regulation of cellular component movement  primary cilium  mitotic spindle  
Other databases
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
PubGenePKHD1
iHOPPKHD1
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
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Dec 3 19:41:42 CET 2013
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