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PKD1 polycystic kidney disease 1 (autosomal dominant) [ Homo sapiens (human) ]

Gene ID: 5310, updated on 15-Sep-2014
Official Symbol
PKD1provided by HGNC
Official Full Name
polycystic kidney disease 1 (autosomal dominant)provided by HGNC
Primary source
HGNC:HGNC:9008
See related
Ensembl:ENSG00000008710; HPRD:03203; MIM:601313; Vega:OTTHUMG00000155795
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PBP; Pc-1; TRPP1
Summary
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]
See PKD1 in Epigenomics, MapViewer
Location:
16p13.3
Exon count:
50
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 16 NC_000016.10 (2088708..2135898, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (2138709..2185899, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2 Neighboring gene nth endonuclease III-like 1 (E. coli) Neighboring gene tuberous sclerosis 2 Neighboring gene microRNA 1225 Neighboring gene microRNA 6511b-1 Neighboring gene microRNA 3180-5 Neighboring gene microRNA 4516 Neighboring gene RAB26, member RAS oncogene family

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Polycystic kidney disease, adult type
MedGen: C0085413 OMIM: 173900 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-02-22)

ISCA Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-02-22)

ISCA Genome Curation Page

Replication interactions

Interaction Pubs
Knockdown of polycystic kidney disease 1, autosomal dominant (PKD1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
cation channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
ion channel binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
JAK-STAT cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
branching morphogenesis of an epithelial tube IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
calcium-independent cell-matrix adhesion TAS
Traceable Author Statement
more info
PubMed 
cartilage condensation IEA
Inferred from Electronic Annotation
more info
 
cartilage development IEP
Inferred from Expression Pattern
more info
PubMed 
cation transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
cell cycle arrest ISS
Inferred from Sequence or Structural Similarity
more info
 
cell-matrix adhesion TAS
Traceable Author Statement
more info
PubMed 
cytoplasmic sequestering of transcription factor ISS
Inferred from Sequence or Structural Similarity
more info
 
detection of mechanical stimulus IBA
Inferred from Biological aspect of Ancestor
more info
 
detection of mechanical stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
digestive tract development IEP
Inferred from Expression Pattern
more info
PubMed 
embryonic placenta development ISS
Inferred from Sequence or Structural Similarity
more info
 
genitalia development IEP
Inferred from Expression Pattern
more info
PubMed 
heart development IEP
Inferred from Expression Pattern
more info
PubMed 
homophilic cell adhesion TAS
Traceable Author Statement
more info
PubMed 
in utero embryonic development ISS
Inferred from Sequence or Structural Similarity
more info
 
kidney development ISS
Inferred from Sequence or Structural Similarity
more info
 
liver development IEA
Inferred from Electronic Annotation
more info
 
lung epithelium development IEP
Inferred from Expression Pattern
more info
PubMed 
mesonephric duct development IEP
Inferred from Expression Pattern
more info
PubMed 
mesonephric tubule development IEP
Inferred from Expression Pattern
more info
PubMed 
metanephric ascending thin limb development IEP
Inferred from Expression Pattern
more info
PubMed 
metanephric collecting duct development IEP
Inferred from Expression Pattern
more info
PubMed 
metanephric distal tubule morphogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
metanephric proximal tubule development IEP
Inferred from Expression Pattern
more info
PubMed 
neural tube development IEP
Inferred from Expression Pattern
more info
PubMed 
neuropeptide signaling pathway IEA
Inferred from Electronic Annotation
more info
 
nitrogen compound metabolic process IEA
Inferred from Electronic Annotation
more info
 
peptidyl-serine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
placenta blood vessel development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
protein export from nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of mitotic spindle organization IEA
Inferred from Electronic Annotation
more info
 
regulation of proteasomal protein catabolic process IDA
Inferred from Direct Assay
more info
 
response to fluid shear stress IEA
Inferred from Electronic Annotation
more info
 
skin development IEP
Inferred from Expression Pattern
more info
PubMed 
spinal cord development IEP
Inferred from Expression Pattern
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
lateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
motile primary cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
polycystin complex ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
polycystin-1
Names
polycystin-1
polycystin 1
polycystic kidney disease-associated protein
autosomal dominant polycystic kidney disease 1 protein
transient receptor potential cation channel, subfamily P, member 1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008617.1 

    Range
    5001..54511
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000296.3NP_000287.3  polycystin-1 isoform 2 precursor

    See proteins identical to NP_000287.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate acceptor splice site, 3 nt downstream of that used by transcript variant 1, at the junction of one of the coding exons. This results in an isoform (2) that is 1 aa shorter than isoform 1.
    Source sequence(s)
    AC093513, L33243, U24497
    Consensus CDS
    CCDS45385.1
    UniProtKB/Swiss-Prot
    P98161
    Related
    ENSP00000399501, OTTHUMP00000208670, ENST00000423118, OTTHUMT00000341689
    Conserved Domains (11) summary
    cd00037
    Location:418531
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    TIGR00864
    Location:972728
    PCC; polycystin cation channel protein
    smart00303
    Location:30113060
    GPS; G-protein-coupled receptor proteolytic site domain
    smart00082
    Location:125177
    LRRCT; Leucine rich repeat C-terminal domain
    smart00321
    Location:177271
    WSC; present in yeast cell wall integrity and stress response component proteins
    COG4886
    Location:50126
    COG4886; Leucine-rich repeat (LRR) protein [Function unknown]
    cd00146
    Location:11291203
    PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...
    cd01752
    Location:31183237
    PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
    pfam00801
    Location:9391006
    PKD; PKD domain
    pfam08016
    Location:37104112
    PKD_channel; Polycystin cation channel
    pfam12799
    Location:93128
    LRR_4; Leucine Rich repeats (2 copies)
  2. NM_001009944.2NP_001009944.2  polycystin-1 isoform 1 precursor

    See proteins identical to NP_001009944.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC093513, L33243, U24497
    Consensus CDS
    CCDS32369.1
    UniProtKB/Swiss-Prot
    P98161
    Related
    ENSP00000262304, OTTHUMP00000208669, ENST00000262304, OTTHUMT00000341688
    Conserved Domains (11) summary
    cd00037
    Location:418531
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    TIGR00864
    Location:972728
    PCC; polycystin cation channel protein
    smart00303
    Location:30113060
    GPS; G-protein-coupled receptor proteolytic site domain
    smart00082
    Location:125177
    LRRCT; Leucine rich repeat C-terminal domain
    smart00321
    Location:177271
    WSC; present in yeast cell wall integrity and stress response component proteins
    COG4886
    Location:50126
    COG4886; Leucine-rich repeat (LRR) protein [Function unknown]
    cd00146
    Location:11291203
    PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...
    cd01752
    Location:31183237
    PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
    pfam00801
    Location:9391006
    PKD; PKD domain
    pfam08016
    Location:37114113
    PKD_channel; Polycystin cation channel
    pfam12799
    Location:93128
    LRR_4; Leucine Rich repeats (2 copies)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10 

    Range
    2088708..2135898
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720891.1XP_006720954.1  

    Conserved Domains (11) summary
    cd00037
    Location:418531
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    TIGR00864
    Location:972765
    PCC; polycystin cation channel protein
    smart00303
    Location:30483097
    GPS; G-protein-coupled receptor proteolytic site domain
    smart00082
    Location:125177
    LRRCT; Leucine rich repeat C-terminal domain
    smart00321
    Location:177271
    WSC; present in yeast cell wall integrity and stress response component proteins
    COG4886
    Location:50126
    COG4886; Leucine-rich repeat (LRR) protein [Function unknown]
    cd00146
    Location:11661240
    PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...
    cd01752
    Location:31493268
    PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
    pfam00801
    Location:9761043
    PKD; PKD domain
    pfam08016
    Location:37424144
    PKD_channel; Polycystin cation channel
    pfam12799
    Location:93128
    LRR_4; Leucine Rich repeats (2 copies)
  2. XM_006720890.1XP_006720953.1  

    Conserved Domains (11) summary
    cd00037
    Location:418531
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    TIGR00864
    Location:972765
    PCC; polycystin cation channel protein
    smart00303
    Location:30483097
    GPS; G-protein-coupled receptor proteolytic site domain
    smart00082
    Location:125177
    LRRCT; Leucine rich repeat C-terminal domain
    smart00321
    Location:177271
    WSC; present in yeast cell wall integrity and stress response component proteins
    COG4886
    Location:50126
    COG4886; Leucine-rich repeat (LRR) protein [Function unknown]
    cd00146
    Location:11661240
    PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...
    cd01752
    Location:31553274
    PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
    pfam00801
    Location:9761043
    PKD; PKD domain
    pfam08016
    Location:37474149
    PKD_channel; Polycystin cation channel
    pfam12799
    Location:93128
    LRR_4; Leucine Rich repeats (2 copies)
  3. XM_006720889.1XP_006720952.1  

    Conserved Domains (11) summary
    cd00037
    Location:418531
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    TIGR00864
    Location:972765
    PCC; polycystin cation channel protein
    smart00303
    Location:30483097
    GPS; G-protein-coupled receptor proteolytic site domain
    smart00082
    Location:125177
    LRRCT; Leucine rich repeat C-terminal domain
    smart00321
    Location:177271
    WSC; present in yeast cell wall integrity and stress response component proteins
    COG4886
    Location:50126
    COG4886; Leucine-rich repeat (LRR) protein [Function unknown]
    cd00146
    Location:11661240
    PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...
    cd01752
    Location:31553274
    PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
    pfam00801
    Location:9761043
    PKD; PKD domain
    pfam08016
    Location:37484150
    PKD_channel; Polycystin cation channel
    pfam12799
    Location:93128
    LRR_4; Leucine Rich repeats (2 copies)
  4. XM_006720892.1XP_006720955.1  

    Conserved Domains (10) summary
    cd00037
    Location:357470
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    TIGR00864
    Location:362704
    PCC; polycystin cation channel protein
    smart00303
    Location:29873036
    GPS; G-protein-coupled receptor proteolytic site domain
    smart00082
    Location:64116
    LRRCT; Leucine rich repeat C-terminal domain
    smart00321
    Location:116210
    WSC; present in yeast cell wall integrity and stress response component proteins
    cd00146
    Location:11051179
    PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...
    cd01752
    Location:30943213
    PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
    pfam00801
    Location:915982
    PKD; PKD domain
    pfam08016
    Location:36874089
    PKD_channel; Polycystin cation channel
    pfam12799
    Location:3267
    LRR_4; Leucine Rich repeats (2 copies)
  5. XM_006720893.1XP_006720956.1  

    Conserved Domains (8) summary
    cd00037
    Location:286
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    smart00303
    Location:26032652
    GPS; G-protein-coupled receptor proteolytic site domain
    COG3291
    Location:751950
    COG3291; FOG: PKD repeat [General function prediction only]
    cd00146
    Location:721795
    PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...
    cd01752
    Location:27102829
    PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
    pfam00801
    Location:531598
    PKD; PKD domain
    pfam02010
    Location:17632206
    REJ; REJ domain
    pfam08016
    Location:33033705
    PKD_channel; Polycystin cation channel
  6. XM_005255370.1XP_005255427.1  

    Conserved Domains (7) summary
    smart00303
    Location:19962045
    GPS; G-protein-coupled receptor proteolytic site domain
    COG3291
    Location:40266
    COG3291; FOG: PKD repeat [General function prediction only]
    cd00146
    Location:114188
    PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...
    cd01752
    Location:21032222
    PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
    pfam00801
    Location:9651036
    PKD; PKD domain
    pfam02010
    Location:11561599
    REJ; REJ domain
    pfam08016
    Location:26963098
    PKD_channel; Polycystin cation channel
  7. XM_006720895.1XP_006720958.1  

    Conserved Domains (8) summary
    cd00037
    Location:418531
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    TIGR00864
    Location:972658
    PCC; polycystin cation channel protein
    smart00082
    Location:125177
    LRRCT; Leucine rich repeat C-terminal domain
    smart00321
    Location:177271
    WSC; present in yeast cell wall integrity and stress response component proteins
    COG4886
    Location:50126
    COG4886; Leucine-rich repeat (LRR) protein [Function unknown]
    cd00146
    Location:11661240
    PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...
    pfam00801
    Location:9761043
    PKD; PKD domain
    pfam12799
    Location:93128
    LRR_4; Leucine Rich repeats (2 copies)
  8. XM_006720894.1XP_006720957.1  

    Conserved Domains (8) summary
    cd00037
    Location:418531
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    TIGR00864
    Location:972658
    PCC; polycystin cation channel protein
    smart00082
    Location:125177
    LRRCT; Leucine rich repeat C-terminal domain
    smart00321
    Location:177271
    WSC; present in yeast cell wall integrity and stress response component proteins
    COG4886
    Location:50126
    COG4886; Leucine-rich repeat (LRR) protein [Function unknown]
    cd00146
    Location:11661240
    PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...
    pfam00801
    Location:9761043
    PKD; PKD domain
    pfam12799
    Location:93128
    LRR_4; Leucine Rich repeats (2 copies)

RNA

  1. XR_429642.1 RNA Sequence

  2. XR_429643.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000148.1 

    Range
    2063439..2112133
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 

    Range
    2138626..2185837
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)