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Aliases for PKD1 Gene

Aliases for PKD1 Gene

  • Polycystic Kidney Disease 1 (Autosomal Dominant) 2 3
  • Autosomal Dominant Polycystic Kidney Disease 1 Protein 3 4
  • Polycystin 1 2 3
  • Transient Receptor Potential Cation Channel, Subfamily P, Member 1 3
  • Polycystic Kidney Disease-Associated Protein 3
  • Transient Receptor Potential Cation Channel 2
  • Polycystin-1 3
  • Subfamily P 2
  • Member 1 2
  • TRPP1 3
  • PC-1 3
  • PBP 3

External Ids for PKD1 Gene

Summaries for PKD1 Gene

Entrez Gene Summary for PKD1 Gene

  • This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]

GeneCards Summary for PKD1 Gene

PKD1 (Polycystic Kidney Disease 1 (Autosomal Dominant)) is a Protein Coding gene. Diseases associated with PKD1 include polycystic kidney disease, adult type i and kidney disease. Among its related pathways are Phospholipase-C Pathway. GO annotations related to this gene include protein kinase binding and carbohydrate binding. An important paralog of this gene is PKD1L1.

UniProtKB/Swiss-Prot for PKD1 Gene

  • Involved in renal tubulogenesis (PubMed:12482949). Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). Acts as a regulator of cilium length, together with PKD2 (By similarity). The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling (By similarity). The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling (By similarity). May be an ion-channel regulator. Involved in adhesive protein-protein and protein-carbohydrate interactions.

Gene Wiki entry for PKD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PKD1 Gene

Genomics for PKD1 Gene

Genomic Location for PKD1 Gene

Start:
2,088,708 bp from pter
End:
2,135,898 bp from pter
Size:
47,191 bases
Orientation:
Minus strand

Genomic View for PKD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PKD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PKD1 Gene

Regulatory Elements for PKD1 Gene

Proteins for PKD1 Gene

  • Protein details for PKD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P98161-PKD1_HUMAN
    Recommended name:
    Polycystin-1
    Protein Accession:
    P98161
    Secondary Accessions:
    • Q15140
    • Q15141

    Protein attributes for PKD1 Gene

    Size:
    4303 amino acids
    Molecular mass:
    462529 Da
    Quaternary structure:
    • Interacts with PKD2 and PKD2L1. Interacts with PRKX; involved in differentiation and controlled morphogenesis of the kidney. Interacts with NPHP1 (via SH3 domain). Interacts with BBS1, BBS4, BBS5 and TTC8 (PubMed:24939912).

    Three dimensional structures from OCA and Proteopedia for PKD1 Gene

    Alternative splice isoforms for PKD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PKD1 Gene

Proteomics data for PKD1 Gene at MOPED

Post-translational modifications for PKD1 Gene

  • After synthesis, undergoes cleavage between Leu-3048 and Thr-3049 in the GPS domain. Cleavage at the GPS domain occurs through a cis-autoproteolytic mechanism involving an ester-intermediate via N-O acyl rearrangement. This process takes place in the early secretory pathway, depends on initial N-glycosylation, and requires the REJ domain. There is evidence that cleavage at GPS domain is incomplete. Uncleaved and cleaved products may have different functions in vivo.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn50, Asn89, Asn116, Asn121, Asn187, Asn621, Asn632, Asn746, Asn810, Asn841, Asn854, Asn890, Asn921, Asn1004, Asn1010, Asn1034, Asn1072, Asn1113, Asn1178, Asn1194, Asn1240, Asn1269, Asn1336, Asn1348, Asn1382, Asn1450, Asn1455, Asn1474, Asn1518, Asn1541, Asn1554, Asn1563, Asn1647, Asn1661, Asn1733, Asn1791, Asn1834, Asn1867, Asn1880, Asn1991, Asn2050, Asn2074, Asn2125, Asn2248, Asn2353, Asn2395, Asn2412, Asn2567, Asn2578, Asn2645, Asn2718, Asn2754, Asn2841, Asn2878, Asn2925, Asn2956, Asn2994, Asn3738, Asn3790, and Asn3845

No data available for DME Specific Peptides for PKD1 Gene

Domains for PKD1 Gene

Gene Families for PKD1 Gene

HGNC:
  • TRP :Voltage-gated ion channels / Transient receptor potential cation channels

UniProtKB/Swiss-Prot:

PKD1_HUMAN
Domain:
  • The LDL-receptor class A domain is atypical; the potential calcium-binding site is missing:
    • P98161
  • Contains 1 C-type lectin domain.:
    • P98161
  • Contains 1 GPS domain.:
    • P98161
  • Contains 1 LDL-receptor class A domain.:
    • P98161
  • Contains 1 LRRCT domain.:
    • P98161
  • Contains 1 LRRNT domain.:
    • P98161
  • Contains 17 PKD domains.:
    • P98161
  • Contains 1 PLAT domain.:
    • P98161
  • Contains 1 REJ domain.:
    • P98161
  • Contains 1 WSC domain.:
    • P98161
Family:
  • Belongs to the polycystin family.:
    • P98161
Similarity:
  • Contains 2 LRR (leucine-rich) repeats.:
    • P98161
genes like me logo Genes that share domains with PKD1: view

Function for PKD1 Gene

Molecular function for PKD1 Gene

GENATLAS Biochemistry: polycystin 1,integral membrane protein with a duplicated portion,involved in cell/matrix interactions,expressed by epithelial renal tubular cells in fetal,ductal epithelia of the liver,pancreas,lung,breast,reproductive organs,modulating WNT signaling during renal development,binding and activating heteromeric G-proteins in vitro,required for the structural integrity of blood vessels,homolog to C elegans lov-1,involved in regulating ion transport
UniProtKB/Swiss-Prot Function: Involved in renal tubulogenesis (PubMed:12482949). Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). Acts as a regulator of cilium length, together with PKD2 (By similarity). The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling (By similarity). The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling (By similarity). May be an ion-channel regulator. Involved in adhesive protein-protein and protein-carbohydrate interactions.

Gene Ontology (GO) - Molecular Function for PKD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005261 cation channel activity --
GO:0005262 calcium channel activity ISS --
GO:0005515 protein binding IPI 10097141
GO:0019901 protein kinase binding IPI 17980165
GO:0019904 protein domain specific binding IPI 9171830
genes like me logo Genes that share ontologies with PKD1: view
genes like me logo Genes that share phenotypes with PKD1: view

Animal Models for PKD1 Gene

MGI Knock Outs for PKD1:

miRNA for PKD1 Gene

miRTarBase miRNAs that target PKD1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for PKD1 Gene

Localization for PKD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PKD1 Gene

Membrane; Multi-pass membrane protein. Cell projection, cilium. Note=PKD1 localization to the plasma and ciliary membranes requires PKD2, is independent of PKD2 channel activity, and involves stimulation of PKD1 autoproteolytic cleavage at the GPS domain (By similarity). Ciliary localization of PKD1 requires BBS1 and ARL6/BBS3 (By similarity). {ECO:0000250 UniProtKB:O08852}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PKD1 Gene COMPARTMENTS Subcellular localization image for PKD1 gene
Compartment Confidence
plasma membrane 4
nucleus 3
cytoskeleton 2
cytosol 2
endoplasmic reticulum 2
extracellular 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PKD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0002133 polycystin complex ISS --
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm ISS --
GO:0005794 Golgi apparatus --
genes like me logo Genes that share ontologies with PKD1: view

Pathways for PKD1 Gene

SuperPathways for PKD1 Gene

Superpath Contained pathways
1 Phospholipase-C Pathway
genes like me logo Genes that share pathways with PKD1: view

Pathways by source for PKD1 Gene

1 Qiagen pathway for PKD1 Gene

Gene Ontology (GO) - Biological Process for PKD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001502 cartilage condensation IEA --
GO:0001568 blood vessel development --
GO:0001701 in utero embryonic development ISS --
GO:0001822 kidney development ISS --
GO:0001889 liver development IEA --
genes like me logo Genes that share ontologies with PKD1: view

Compounds for PKD1 Gene

(1) HMDB Compounds for PKD1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(22) Novoseek inferred chemical compound relationships for PKD1 Gene

Compound -log(P) Hits PubMed IDs
trp-p-2 75.2 5
penicillin 47.5 15
threonine 43.2 8
beta-lactam 39.7 3
calcium 33.6 15
genes like me logo Genes that share compounds with PKD1: view

Transcripts for PKD1 Gene

Unigene Clusters for PKD1 Gene

Polycystic kidney disease 1 (autosomal dominant):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PKD1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19a · 19b · 19c ·
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: - - - - - -
SP10: -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16: - - - - - - - - -
SP17:
SP18:
SP19:
SP20: -
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:

ExUns: 19d ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29a · 29b ^ 30a · 30b · 30c · 30d ^ 31a · 31b ^ 32a · 32b ^ 33a · 33b ^
SP1:
SP2:
SP3:
SP4: - -
SP5: - -
SP6: - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:

ExUns: 34a · 34b · 34c ^ 35a · 35b · 35c · 35d ^ 36a · 36b ^ 37 ^ 38 ^ 39a · 39b · 39c ^ 40a · 40b ^ 41
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7: -
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: - -
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26: - -

Relevant External Links for PKD1 Gene

GeneLoc Exon Structure for
PKD1
ECgene alternative splicing isoforms for
PKD1

Expression for PKD1 Gene

mRNA expression in normal human tissues for PKD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PKD1 Gene

This gene is overexpressed in Brain - Cerebellum (7.0) and Brain - Cerebellar Hemisphere (6.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PKD1 Gene

SOURCE GeneReport for Unigene cluster for PKD1 Gene Hs.75813

genes like me logo Genes that share expressions with PKD1: view

Orthologs for PKD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PKD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PKD1 37
  • 67 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PKD1 36
  • 83.32 (n)
  • 81.03 (a)
PKD1 37
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PKD1 36
  • 83.09 (n)
  • 81.77 (a)
PKD1 37
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pkd1 36
  • 78.7 (n)
  • 78.6 (a)
Pkd1 16
Pkd1 37
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PKD1 37
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 46 (a)
OneToMany
-- 37
  • 59 (a)
OneToMany
-- 37
  • 63 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pkd1 36
  • 78.74 (n)
  • 78.75 (a)
chicken
(Gallus gallus)
Aves PKD1 36
  • 61.46 (n)
  • 56.15 (a)
PKD1 37
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PKD1 37
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pkd1 36
  • 56.13 (n)
  • 49.17 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100149562 36
  • 51.93 (n)
  • 42.82 (a)
PKD1 37
  • 39 (a)
OneToOne
Species with no ortholog for PKD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PKD1 Gene

ENSEMBL:
Gene Tree for PKD1 (if available)
TreeFam:
Gene Tree for PKD1 (if available)

Paralogs for PKD1 Gene

Paralogs for PKD1 Gene

genes like me logo Genes that share paralogs with PKD1: view

Variants for PKD1 Gene

Sequence variations from dbSNP and Humsavar for PKD1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs28122 -- 2,102,699(-) ATGGG(C/T)TCTGA intron-variant
rs30255 -- 2,101,475(+) aactg(A/G)gtgtg intron-variant
rs30256 -- 2,098,853(+) ggaga(C/T)ggagt intron-variant
rs30257 -- 2,098,813(+) gcctg(A/G)gcttt intron-variant
rs30258 -- 2,098,463(+) gcctc(C/G)gcctc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PKD1 Gene

Variant ID Type Subtype PubMed ID
esv2422427 CNV Duplication 17116639
dgv2540n71 CNV Loss 21882294
dgv2544n71 CNV Loss 21882294
dgv2545n71 CNV Loss 21882294
dgv2546n71 CNV Loss 21882294
dgv2549n71 CNV Loss 21882294
dgv2550n71 CNV Loss 21882294
nsv471072 CNV Loss 18288195
nsv905102 CNV Loss 21882294
dgv2556n71 CNV Loss 21882294
dgv2557n71 CNV Loss 21882294
nsv457349 CNV Loss 19166990
dgv2558n71 CNV Loss 21882294
nsv905113 CNV Loss 21882294
dgv2559n71 CNV Loss 21882294
dgv2560n71 CNV Loss 21882294
dgv2561n71 CNV Loss 21882294
nsv471381 CNV Duplication 19718026
nsv482186 CNV Gain 20164927
esv26918 CNV Gain+Loss 19812545
nsv827505 CNV Gain 20364138
nsv827506 CNV Gain 20364138
nsv820654 CNV Deletion 20802225
esv1009851 CNV Loss 20482838
nsv499604 CNV Gain 21111241
nsv9331 CNV Gain 18304495
nsv1709 CNV Insertion 18451855
nsv827507 CNV Gain 20364138
nsv9332 CNV Loss 18304495
dgv2562n71 CNV Loss 21882294
dgv2563n71 CNV Loss 21882294
esv26637 CNV Loss 19812545
nsv905127 CNV Loss 21882294

Relevant External Links for PKD1 Gene

HapMap Linkage Disequilibrium report
PKD1
Human Gene Mutation Database (HGMD)
PKD1
Locus Specific Mutation Databases (LSDB)
PKD1

Disorders for PKD1 Gene

(1) OMIM Diseases for PKD1 Gene (601313)

UniProtKB/Swiss-Prot

PKD1_HUMAN
  • Polycystic kidney disease 1 (PKD1) [MIM:173900]: A disorder characterized by renal cysts, liver cysts and intracranial aneurysm. Clinical variability is due to differences in the rate of loss of glomerular filtration, the age of reaching end-stage renal disease and the occurrence of hypertension, symptomatic extrarenal cysts, and subarachnoid hemorrhage from intracranial berry aneurysm. {ECO:0000269 PubMed:10200984, ECO:0000269 PubMed:10364515, ECO:0000269 PubMed:10577909, ECO:0000269 PubMed:10647901, ECO:0000269 PubMed:10729710, ECO:0000269 PubMed:10854095, ECO:0000269 PubMed:10923040, ECO:0000269 PubMed:10987650, ECO:0000269 PubMed:11012875, ECO:0000269 PubMed:11058904, ECO:0000269 PubMed:11115377, ECO:0000269 PubMed:11216660, ECO:0000269 PubMed:11316854, ECO:0000269 PubMed:11558899, ECO:0000269 PubMed:11571556, ECO:0000269 PubMed:11691639, ECO:0000269 PubMed:11773467, ECO:0000269 PubMed:11857740, ECO:0000269 PubMed:11967008, ECO:0000269 PubMed:12007219, ECO:0000269 PubMed:12070253, ECO:0000269 PubMed:12220456, ECO:0000269 PubMed:12842373, ECO:0000269 PubMed:15772804, ECO:0000269 PubMed:18837007, ECO:0000269 PubMed:21115670, ECO:0000269 PubMed:22508176, ECO:0000269 PubMed:8554072, ECO:0000269 PubMed:9199561, ECO:0000269 PubMed:9259200, ECO:0000269 PubMed:9285784, ECO:0000269 PubMed:9521593, ECO:0000269 PubMed:9921908}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(34) Novoseek inferred disease relationships for PKD1 Gene

Disease -log(P) Hits PubMed IDs
adpkd 98.3 172
polycystic kidney diseases 95.5 101
renal cyst 89.5 24
polycystic kidney type 2 autosomal dominant disease 87.4 1
arpkd 85.3 10

Relevant External Links for PKD1

GeneTests
PKD1
GeneReviews
PKD1
Genetic Association Database (GAD)
PKD1
Human Genome Epidemiology (HuGE) Navigator
PKD1
genes like me logo Genes that share disorders with PKD1: view

Publications for PKD1 Gene

  1. Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease. (PMID: 12220456) Eo H.-S. … Kim U.K. (Clin. Genet. 2002) 3 4 23 49
  2. Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations. (PMID: 12482949) Qian F. … Germino G.G. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 4 23
  3. Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families. (PMID: 11571556) Bouba I. … Deltas C.C. (Eur. J. Hum. Genet. 2001) 3 4 23
  4. Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease. (PMID: 10577909) Watnick T. … Germino G.G. (Am. J. Hum. Genet. 1999) 3 4 23
  5. Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease. (PMID: 10729710) Kim U.K. … Lee C.C. (Mutat. Res. 2000) 3 4 23

Products for PKD1 Gene

Sources for PKD1 Gene

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