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PKD1 polycystin 1, transient receptor potential channel interacting [ Homo sapiens (human) ]

Gene ID: 5310, updated on 8-Jul-2021

Summary

Official Symbol
PKD1provided by HGNC
Official Full Name
polycystin 1, transient receptor potential channel interactingprovided by HGNC
Primary source
HGNC:HGNC:9008
See related
Ensembl:ENSG00000008710 MIM:601313
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; PC1; 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]
Expression
Ubiquitous expression in endometrium (RPKM 11.1), fat (RPKM 9.6) and 25 other tissues See more
Orthologs
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Genomic context

See PKD1 in Genome Data Viewer
Location:
16p13.3
Exon count:
51
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (2088708..2135898, complement)
105.20201022 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 SLC9A3 regulator 2 Neighboring gene nth like DNA glycosylase 1 Neighboring gene TSC complex subunit 2 Neighboring gene uncharacterized LOC105371049 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

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-06-10)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-06-10)

ClinGen Genome Curation PagePubMed

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables Wnt-activated receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to calcium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables calcium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transmembrane transporter binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
involved_in branching morphogenesis of an epithelial tube IDA
Inferred from Direct Assay
more info
PubMed 
involved_in calcium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in calcium-independent cell-matrix adhesion TAS
Traceable Author Statement
more info
PubMed 
involved_in cartilage condensation IEA
Inferred from Electronic Annotation
more info
 
involved_in cartilage development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in cell-cell signaling by wnt IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cell-matrix adhesion TAS
Traceable Author Statement
more info
PubMed 
involved_in cytoplasmic sequestering of transcription factor ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in detection of mechanical stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in digestive tract development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in embryonic placenta development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in establishment of cell polarity IEA
Inferred from Electronic Annotation
more info
 
involved_in genitalia development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in heart development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in homophilic cell adhesion via plasma membrane adhesion molecules TAS
Traceable Author Statement
more info
PubMed 
involved_in in utero embryonic development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in kidney development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in liver development IEA
Inferred from Electronic Annotation
more info
 
involved_in lung epithelium development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in lymph vessel morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in mesonephric duct development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in mesonephric tubule development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in metanephric ascending thin limb development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in metanephric collecting duct development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in metanephric distal tubule morphogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in metanephric proximal tubule development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in neural tube development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in peptidyl-serine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in placenta blood vessel development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cyclin-dependent protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein export from nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein heterotetramerization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in receptor signaling pathway via JAK-STAT ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of G1/S transition of mitotic cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of cell adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cell cycle ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of mitotic spindle organization IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within regulation of proteasomal protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to fluid shear stress IEA
Inferred from Electronic Annotation
more info
 
involved_in skin development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in spinal cord development IEP
Inferred from Expression Pattern
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in Golgi membrane TAS
Traceable Author Statement
more info
 
located_in Golgi-associated vesicle membrane TAS
Traceable Author Statement
more info
 
located_in basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
part_of calcium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of cation channel complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell surface IEA
Inferred from Electronic Annotation
more info
 
located_in ciliary membrane TAS
Traceable Author Statement
more info
 
located_in cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in extracellular exosome HDA PubMed 
located_in extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in lateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in motile cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
part_of polycystin complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
polycystin-1
Names
autosomal dominant polycystic kidney disease 1 protein
polycystic kidney disease 1 (autosomal dominant)
polycystic kidney disease-associated protein
transient receptor potential cation channel, subfamily P, member 1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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 RefSeqGene

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

mRNA and Protein(s)

  1. NM_000296.4NP_000287.4  polycystin-1 isoform 2 precursor

    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)
    AC009065, AC093513
    Consensus CDS
    CCDS45385.1
    Related
    ENSP00000399501.1, ENST00000423118.5
    Conserved Domains (6) summary
    TIGR00864
    Location:972728
    PCC; polycystin cation channel protein
    smart00303
    Location:30113060
    GPS; G-protein-coupled receptor proteolytic site domain
    COG4886
    Location:50126
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    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 ...
    sd00031
    Location:7092
    LRR_1; leucine-rich repeat [structural motif]
    pfam08016
    Location:37124112
    PKD_channel; Polycystin cation channel
  2. NM_001009944.3NP_001009944.3  polycystin-1 isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC009065, AC093513
    Consensus CDS
    CCDS32369.1
    Related
    ENSP00000262304.4, ENST00000262304.9
    Conserved Domains (6) summary
    TIGR00864
    Location:972728
    PCC; polycystin cation channel protein
    smart00303
    Location:30113060
    GPS; G-protein-coupled receptor proteolytic site domain
    COG4886
    Location:50126
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    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 ...
    sd00031
    Location:7092
    LRR_1; leucine-rich repeat [structural motif]
    pfam08016
    Location:37134113
    PKD_channel; Polycystin cation channel

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024450299.1XP_024306067.1  polycystin-1 isoform X4

    Conserved Domains (5) summary
    TIGR00864
    Location:732744
    PCC; polycystin cation channel protein
    smart00303
    Location:30273076
    GPS; G-protein-coupled receptor proteolytic site domain
    cd01752
    Location:31343253
    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 ...
    sd00031
    Location:4868
    LRR_1; leucine-rich repeat [structural motif]
    cl27887
    Location:37274129
    PKD_channel; Polycystin cation channel
  2. XM_024450298.1XP_024306066.1  polycystin-1 isoform X1

    Conserved Domains (6) summary
    TIGR00864
    Location:972768
    PCC; polycystin cation channel protein
    smart00303
    Location:30513100
    GPS; G-protein-coupled receptor proteolytic site domain
    COG4886
    Location:50126
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd01752
    Location:31583277
    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 ...
    sd00031
    Location:7092
    LRR_1; leucine-rich repeat [structural motif]
    cl27887
    Location:37514153
    PKD_channel; Polycystin cation channel
  3. XM_024450300.1XP_024306068.1  polycystin-1 isoform X5

    Conserved Domains (5) summary
    TIGR00864
    Location:272698
    PCC; polycystin cation channel protein
    smart00303
    Location:29813030
    GPS; G-protein-coupled receptor proteolytic site domain
    cd01752
    Location:30883207
    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 ...
    sd00031
    Location:2346
    LRR_1; leucine-rich repeat [structural motif]
    cl27887
    Location:36814083
    PKD_channel; Polycystin cation channel
  4. XM_011522529.2XP_011520831.1  polycystin-1 isoform X3

    Conserved Domains (11) summary
    TIGR00864
    Location:1152746
    PCC; polycystin cation channel protein
    smart00303
    Location:30293078
    GPS; G-protein-coupled receptor proteolytic site domain
    smart00034
    Location:424549
    CLECT; C-type lectin (CTL) or carbohydrate-recognition domain (CRD)
    smart00082
    Location:143195
    LRRCT; Leucine rich repeat C-terminal domain
    smart00089
    Location:11461227
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    smart00321
    Location:195289
    WSC; present in yeast cell wall integrity and stress response component proteins
    cd01752
    Location:31363255
    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 ...
    sd00031
    Location:111134
    LRR_1; leucine-rich repeat [structural motif]
    pfam00801
    Location:17411810
    PKD; PKD domain
    pfam04479
    Location:38923974
    RTA1; RTA1 like protein
    pfam08016
    Location:37284130
    PKD_channel; Polycystin cation channel
  5. XM_011522528.3XP_011520830.1  polycystin-1 isoform X2

    Conserved Domains (11) summary
    TIGR00864
    Location:1152746
    PCC; polycystin cation channel protein
    smart00303
    Location:30293078
    GPS; G-protein-coupled receptor proteolytic site domain
    smart00034
    Location:424549
    CLECT; C-type lectin (CTL) or carbohydrate-recognition domain (CRD)
    smart00082
    Location:143195
    LRRCT; Leucine rich repeat C-terminal domain
    smart00089
    Location:11461227
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    smart00321
    Location:195289
    WSC; present in yeast cell wall integrity and stress response component proteins
    cd01752
    Location:31363255
    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 ...
    sd00031
    Location:111134
    LRR_1; leucine-rich repeat [structural motif]
    pfam00801
    Location:17411810
    PKD; PKD domain
    pfam04479
    Location:38933975
    RTA1; RTA1 like protein
    pfam08016
    Location:37294131
    PKD_channel; Polycystin cation channel
  6. XM_024450301.1XP_024306069.1  polycystin-1 isoform X6

    Conserved Domains (4) summary
    TIGR00864
    Location:12060
    PCC; polycystin cation channel protein
    smart00303
    Location:23432392
    GPS; G-protein-coupled receptor proteolytic site domain
    cd01752
    Location:24502569
    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 ...
    cl27887
    Location:30433445
    PKD_channel; Polycystin cation channel
  7. XM_005255370.3XP_005255427.1  polycystin-1 isoform X8

    Conserved Domains (8) summary
    smart00303
    Location:19962045
    GPS; G-protein-coupled receptor proteolytic site domain
    smart00089
    Location:113194
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    COG3291
    Location:40266
    COG3291; PKD repeat [Function unknown]
    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:708777
    PKD; PKD domain
    pfam02010
    Location:11561599
    REJ; REJ domain
    pfam04479
    Location:28602942
    RTA1; RTA1 like protein
    pfam08016
    Location:26963098
    PKD_channel; Polycystin cation channel
  8. XM_011522537.2XP_011520839.1  polycystin-1 isoform X7

    Conserved Domains (8) summary
    smart00303
    Location:20372086
    GPS; G-protein-coupled receptor proteolytic site domain
    smart00089
    Location:154235
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    COG3291
    Location:81307
    COG3291; PKD repeat [Function unknown]
    cd01752
    Location:21442263
    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:749818
    PKD; PKD domain
    pfam02010
    Location:11971640
    REJ; REJ domain
    pfam04479
    Location:29012983
    RTA1; RTA1 like protein
    pfam08016
    Location:27373139
    PKD_channel; Polycystin cation channel

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187607.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    705067..760109 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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