PKD1 (polycystic kidney disease 1 (autosomal dominant))

Identity

Other names	PBP
HGNC	PKD1
Location	16p13.3
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	PKD1   9008
Entrez_Gene	PKD1  5310  polycystic kidney disease 1 (autosomal dominant)
	Cards
GeneCards	PKD1
Ensembl	PKD1 [Search_View]   ENSG00000008710 [Gene_View]
Genatlas	PKD1
GeneLynx	PKD1
eGenome	PKD1
euGene	5310
	Genomic and cartography
GoldenPath	PKD1  -  16p13.3   chr16:2078712-2125900 -  16p13.3   [Description]    (hg18-March_2006)
Ensembl	PKD1 - 16p13.3 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	PKD1
	Gene and transcription
Genbank	AB209025 [ ENTREZ ]
Genbank	AB209675 [ ENTREZ ]
Genbank	AK309422 [ ENTREZ ]
Genbank	CN268814 [ ENTREZ ]
Genbank	CR590016 [ ENTREZ ]
RefSeq	NM_000296 [ SRS ]    NM_000296 [ ENTREZ ]
RefSeq	NM_001009944 [ SRS ]    NM_001009944 [ ENTREZ ]
RefSeq	AC_000059 [ SRS ]    AC_000059 [ ENTREZ ]
RefSeq	AC_000148 [ SRS ]    AC_000148 [ ENTREZ ]
RefSeq	NC_000016 [ SRS ]    NC_000016 [ ENTREZ ]
RefSeq	NG_005895 [ SRS ]    NG_005895 [ ENTREZ ]
RefSeq	NT_037887 [ SRS ]    NT_037887 [ ENTREZ ]
RefSeq	NW_001838339 [ SRS ]    NW_001838339 [ ENTREZ ]
RefSeq	NW_926018 [ SRS ]    NW_926018 [ ENTREZ ]
AceView	PKD1 AceView - NCBI
Unigene	Hs.75813 [ SRS ]    Hs.75813 [ NCBI ]     HS75813 [ spliceNest ]
Fast-db	1957 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	O75276 [ SRS]    O75276 [ EXPASY ]     O75276 [ INTERPRO ]     O75276 [ UNIPROT ]
Prosite	PS50221 GPS [ SRS ]    PS50221 GPS [ Expasy ]
Prosite	PS50095 PLAT [ SRS ]    PS50095 PLAT [ Expasy ]
Interpro	IPR001024 LipOase_LH2 [ SRS ]    IPR001024 LipOase_LH2 [ EBI ]
Interpro	IPR013122 PKD1_2_channel [ SRS ]    IPR013122 PKD1_2_channel [ EBI ]
Interpro	IPR000434 PKD_1 [ SRS ]    IPR000434 PKD_1 [ EBI ]
Interpro	IPR000203 PKD_cys_rich [ SRS ]    IPR000203 PKD_cys_rich [ EBI ]
CluSTr	O75276
Pfam	PF01825 GPS [ SRS ]    PF01825 GPS [ Sanger ]    pfam01825 [ NCBI-CDD ]
Pfam	PF08016 PKD_channel [ SRS ]    PF08016 PKD_channel [ Sanger ]    pfam08016 [ NCBI-CDD ]
Pfam	PF01477 PLAT [ SRS ]    PF01477 PLAT [ Sanger ]    pfam01477 [ NCBI-CDD ]
Smart	SM00303 GPS [EMBL]
Smart	SM00308 LH2 [EMBL]
Blocks	O75276
HPRD	03203
	Protein Interaction databases
DIP	O75276
IntAct	O75276
	Polymorphism : SNP, mutations, diseases
OMIM	173900;601313    [ map ]
GENECLINICS	173900;601313
SNP	PKD1 [dbSNP-NCBI]
SNP	NM_000296 [SNP-NCI]
SNP	NM_001009944 [SNP-NCI]
SNP	PKD1 [GeneSNPs - Utah]  PKD1] [HGBASE - SRS]
HAPMAP	PKD1 [HAPMAP]
HGMD	PKD1
	General knowledge
Family Browser	PKD1 [UCSC Family Browser]
SOURCE	NM_000296
SOURCE	NM_001009944
SMD	Hs.75813
SAGE	Hs.75813
GO	protein binding [Amigo]  protein binding
GO	sugar binding [Amigo]  sugar binding
GO	cellular_component [Amigo]  cellular_component
GO	integral to plasma membrane [Amigo]  integral to plasma membrane
GO	homophilic cell adhesion [Amigo]  homophilic cell adhesion
GO	calcium-independent cell-matrix adhesion [Amigo]  calcium-independent cell-matrix adhesion
GO	neuropeptide signaling pathway [Amigo]  neuropeptide signaling pathway
GO	biological_process [Amigo]  biological_process
GO	anatomical structure morphogenesis [Amigo]  anatomical structure morphogenesis
GO	membrane [Amigo]  membrane
GO	integral to membrane [Amigo]  integral to membrane
PubGene	PKD1
TreeFam	PKD1
CTD	5310 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	PKD1 Related clones (RZPD - Berlin)
	PubMed
PubMed	110 Pubmed reference(s) in LocusLink

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	09-2002	Dessen P, Le Minor S
Updated	03-2008	Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Aug 11 20:25:03 2008