GDB Gene PKD1


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View: Map Region (Mapview1) | Map Region (mapview2) | History

Symbol/Names:
NameAuthorityName Status
PKD1HUGO_NCPrimary
Hs.75813UniGenePrimary
PBPGDB EDIT GROUPAlias
polycystic kidney disease 1 (autosomal dominant)GDB EDIT GROUPAlias
Accession ID:
GDB:120293
Is Putative:
No
Gene Evidence:
Transcript clustering UniGene
Is Pseudogene:
No
Status:
Active
Comment:
The gene for PKD1 was isolated by the European Polycystic Kidney Disease Consortium
Cytogenetic Localization:
ChromosomeLeft MarkerRight MarkerMap Element IDApproval StatusMap
1616p13.316p13.3GDB:1067675ApprovedChromosome - 16 - Cytogenetic Map
Cyto. Loc. Evidence:
Linkage
Related Segments:
RelationshipMarkerObservationPositionOrder ID
OverlapsAmplimer 3A3 C4-C5Is template forGDB:1347310
OverlapsAmplimer PKD1-3R/19FDdIs template forGDB:5283434
OverlapsAmplimer UP46/LP46Is template forexon 46GDB:5885972
OverlapsAmplimer PKD1-T44F2/E45R2Hybridizes withExon 45GDB:6268604
OverlapsAmplimer KG8(A)F8/KG8(A)R6Is template forGDB:809506
OverlapsAmplimer KM17(K)3'UTR/KM17(K)F6Is template forGDB:809507
OverlapsAmplimer Nik2Is template forGDB:809508
OverlapsAmplimer W5Is template forGDB:809509
OverlapsAmplimer B5/F5Is template for5' end of probe is 22bp 3' of the PKD1 stop codonGDB:811145
OverlapsAmplimer RS1/RS2Is template fornt 3661-3681GDB:811386
OverlapsAmplimer PKD1.2Is template forexons 2-7; nts 448-1733GDB:811577
OverlapsAmplimer PKD1.3Is template forexons 7-13;nts 1712-3320GDB:811578
OverlapsAmplimer BP1A/BP1BIs template for3' UTRGDB:838391
ContainsAmplimer CHLC.UTR_05049_L33243.P65589Is template forGDB:9045249
OverlapsClone ZDS5Hybridizes withGDB:4426586
OverlapsClone 3A3Hybridizes withpartial coding regionGDB:753439
OverlapsClone A1CHybridizes withpartial coding regionGDB:754252
OverlapsClone AH3Hybridizes withpartial coding regionGDB:755376
OverlapsClone AH4Hybridizes withpartial coding, 3'UTR, plus polyAGDB:755377
OverlapsClone CW10Hybridizes withclose to 5'endGDB:760811
OverlapsClone CW21Hybridizes withclose to 3'endGDB:760828
ContainsEST yt05a03.s1Shares sequence identity withGDB:9053935
ContainsEST yt88c08.s1Shares sequence identity withGDB:9053936
ContainsEST ys91d03.s1Shares sequence identity withGDB:9053937
ContainsEST ze64c09.s1Shares sequence identity withGDB:9053938
ContainsEST ze32d09.s1Shares sequence identity withGDB:9053939
ContainsEST EST25623Shares sequence identity withGDB:9053940
ContainsEST EST29060Shares sequence identity withGDB:9053941
ContainsEST EST29797Shares sequence identity withGDB:9053942
ContainsEST yl23h05.r1Shares sequence identity withGDB:9053943
ContainsEST EST25861Shares sequence identity withGDB:9053944
ContainsEST EST14123Shares sequence identity withGDB:9053945
ContainsEST ys97a05.r1Shares sequence identity withGDB:9053946
ContainsEST EST83686Shares sequence identity withGDB:9053947
ContainsEST yh75d01.r1Shares sequence identity withGDB:9053948
ContainsEST yj82e12.r1Shares sequence identity withGDB:9053949
ContainsEST ze57b07.s1Shares sequence identity withGDB:9053950
ContainsEST yj58a12.r1Shares sequence identity withGDB:9053951
ContainsEST HSC3KG071Shares sequence identity withGDB:9053952
ContainsEST EST176997Shares sequence identity withGDB:9053953
ContainsEST EST25896Shares sequence identity withGDB:9053954
ContainsEST ya77g09.r1Shares sequence identity withGDB:9053955
ContainsEST EST40601Shares sequence identity withGDB:9053956
ContainsEST HSC3JH121Shares sequence identity withGDB:9053957
ContainsEST EST24873Shares sequence identity withGDB:9053958
ContainsEST EST28442Shares sequence identity withGDB:9053959
ContainsEST yi56e07.r1Shares sequence identity withGDB:9053960
ContainsEST EST88213Shares sequence identity withGDB:9053961
ContainsEST EST58627Shares sequence identity withGDB:9053962
ContainsEST EST58630Shares sequence identity withGDB:9053963
ContainsEST EST02831Shares sequence identity withGDB:9053964
ContainsEST yt84h08.r1Shares sequence identity withGDB:9053965
ContainsEST ze57b07.r1Shares sequence identity withGDB:9053966
ContainsEST EST31774Shares sequence identity withGDB:9053967
ContainsEST ze32d09.r1Shares sequence identity withGDB:9053968
ContainsEST EST68619Shares sequence identity withGDB:9053969
ContainsEST zn07c03.r1Shares sequence identity withGDB:9053970
ContainsEST EST27314Shares sequence identity withGDB:9053971
ContainsEST zo08f02.r1Shares sequence identity withGDB:9053972
ContainsEST yt05a03.r1Shares sequence identity withGDB:9053973
ContainsEST ys97a05.s1Shares sequence identity withGDB:9053974
ContainsEST ze64c09.r1Shares sequence identity withGDB:9053975
ContainsEST ys91d03.r1Shares sequence identity withGDB:9053976
ContainsEST yi56e07.s1Shares sequence identity withGDB:9053977
Polymorphisms:
PolymorphismVariation TypePositionMax Het
PKD1 Dinucleotide RepeatDinucleotide Repeat3' UTR 0.5638
PKD1 Dinucleotide RepeatDinucleotide Repeat 0.5117
PKD1 Dinucleotide RepeatDinucleotide Repeat 0.5011
PKD1 UnknownUnknown 0.4887
PKD1 SatelliteSatellite 0.4414
PKD1 Point VariationPoint variationaa: alanine 4091 0.3648
PKD1 Point VariationPoint variationexon 46; codon 4209 0.3470
PKD1 Point VariationPoint variationexon 45; codon 4058 0.2300
Nucleic Acid Sequences:
L33243  L39891  U24498  

Homologies:
MGD: Pkd1
Phenotypes:
Adult polycystic kidney disease type 1
MIM:601313
Protein Sequences:
PIR:A38971  PIR:A44604  PIR:A56520  

External Links:
GeneCard for PKD1 (Weizmann)
Human Gene Mutation Database: PKD1
International PKD Gene Mutation Registry
UniGene Cluster Hs.75813
Citations:
(None) Cell 77:881-94 1994
Bachner, L Cytogenet Cell Genet 46:574 1987
Breuning, MH Cytogenet Cell Genet 46:586 1987
Breuning, MH Cytogenet Cell Genet 51:969 1989
Breuning, MH Cytogenet Cell Genet 58:1997 1991
Breuning, MH Lancet 2:1359-61 1987
Brook-Carter, PT Nature Genet 8:328-32 1994
Burn, TC Hum Mol Genet 4:575-582 1995
Callen, DF Cytogenet Cell Genet 58:1998 1991
Germino, GG Genomics 13:144-51 1992
Gillespie, GA Nucleic Acids Res 18:7071-5 1990
Glucksmann-Kuis, MS Cell 81:289-298 1995
Harris, PC Cytogenet Cell Genet 51:1011 1989
Harris, PC Genomics 23:321-30 1994
Himmelbauer, H Am J Hum Genet 48:325-34 1991
Himmelbauer, H Cytogenet Cell Genet 51:1014 1989
Himmelbauer, H Cytogenet Cell Genet 58:2136 1991
Hughes, J Nature Genet 10:151-160 1995
Hyland, VJ Cytogenet Cell Genet 51:1017 1989
Lazarou, LP J Med Genet 24:466-73 1987
Moreno, F Cytogenet Cell Genet 58:2001 1991
Mulley, JC Hum Genet 74:423-4 1986
Peral, B Hum Mol Genet 4:569-574 1995
Reeders, ST Cytogenet Cell Genet 40:729 1985
Reeders, ST Cytogenet Cell Genet 46:680 1987
Reeders, ST Genomics 3:150-5 1988
Reeders, ST Hum Genet 76:348-51 1987
Reeders, ST Nature 317:542-4 1985
Snarey, A Am J Hum Genet 55:365-71 1994
Turco, AE Hum Mol Genet 4:1331-1335 1995
Viribay, M Hum Genet 94:432-6 1994
Wirth, B Cytogenet Cell Genet 46:718 1987


This Gene has no information for the following fields:
Replaced By, Maps Of, Other Localizations, Distance Data, Sequencing Status, Elements, Families, Products, Expression, Control Regions, Mutations, ASOs, Annotations