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

    Gene ID: 5310, updated on 5-Jul-2015
    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]
    Orthologs
    See PKD1 in Epigenomics, MapViewer
    Location:
    16p13.3
    Exon count:
    53
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 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-like DNA glycosylase 1 Neighboring gene tuberous sclerosis 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

    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)

    ClinGen Genome Curation Page
    Haploinsufficency

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

    ClinGen 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

    • Assembly of the primary cilium, organism-specific biosystem (from REACTOME)
      Assembly of the primary cilium, organism-specific biosystemThe primary cilium is one of two main types of cilia present on the surface of many eukaryotic cells (reviewed in Flieghauf et al, 2007). Unlike the motile cilia, which are generally present in large...
    • Cargo trafficking to the periciliary membrane, organism-specific biosystem (from REACTOME)
      Cargo trafficking to the periciliary membrane, organism-specific biosystemThe primary cilium is a sensory organelle that is required for the transduction of numerous external signals such as growth factors, hormones and morphogens, and an intact primary cilium is needed fo...
    • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
      Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
    • VxPx cargo-targeting to cilium, organism-specific biosystem (from REACTOME)
      VxPx cargo-targeting to cilium, organism-specific biosystemA number of membrane proteins destined for the ciliary membrane are recognized by ARF4 in the trans-Golgi network, initiating the formation of a ciliary targeting complex that directs the passage of ...
    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
     
    calcium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    carbohydrate binding IEA
    Inferred from Electronic Annotation
    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 ISS
    Inferred from Sequence or Structural Similarity
    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 
    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
     
    establishment of cell polarity IEA
    Inferred from Electronic Annotation
    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 via plasma membrane adhesion molecules 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 
    lymph vessel morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    nitrogen compound metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    organelle organization TAS
    Traceable Author Statement
    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 cell adhesion IEA
    Inferred from Electronic Annotation
    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
    PubMed 
    response to fluid shear stress IEA
    Inferred from Electronic Annotation
    more info
     
    single organismal cell-cell adhesion 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 membrane TAS
    Traceable Author Statement
    more info
     
    Golgi-associated vesicle membrane TAS
    Traceable Author Statement
    more info
     
    basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    ciliary membrane TAS
    Traceable Author Statement
    more info
     
    cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular 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
    PubMed 
    polycystin complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    primary cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    polycystin-1
    Names
    autosomal dominant polycystic kidney disease 1 protein
    polycystic kidney disease-associated protein
    polycystin 1
    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 RefSeqGene

      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 identical proteins and their annotated locations for 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 identical proteins and their annotated locations for 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 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011522532.1XP_011520834.1  

      Conserved Domains (10) summary
      cd00037
      Location:394507
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      TIGR00864
      Location:732712
      PCC; polycystin cation channel protein
      smart00303
      Location:29953044
      GPS; G-protein-coupled receptor proteolytic site domain
      smart00082
      Location:101153
      LRRCT; Leucine rich repeat C-terminal domain
      smart00321
      Location:153247
      WSC; present in yeast cell wall integrity and stress response component proteins
      cd00146
      Location:11131187
      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:31023221
      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:19642035
      PKD; PKD domain
      pfam08016
      Location:36954097
      PKD_channel; Polycystin cation channel
      sd00031
      Location:4868
      LRR_1; leucine-rich repeat [structural motif]
    2. XM_011522530.1XP_011520832.1  

      Conserved Domains (12) summary
      cd00037
      Location:418531
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      TIGR00864
      Location:972736
      PCC; polycystin cation channel protein
      smart00303
      Location:30193068
      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
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      cd00146
      Location:11371211
      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:31263245
      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:19882059
      PKD; PKD domain
      pfam08016
      Location:37194121
      PKD_channel; Polycystin cation channel
      pfam12799
      Location:93128
      LRR_4; Leucine Rich repeats (2 copies)
      sd00031
      Location:7092
      LRR_1; leucine-rich repeat [structural motif]
    3. XM_011522534.1XP_011520836.1  

      Conserved Domains (11) summary
      cd00037
      Location:348461
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      TIGR00864
      Location:272666
      PCC; polycystin cation channel protein
      smart00303
      Location:29492998
      GPS; G-protein-coupled receptor proteolytic site domain
      smart00082
      Location:55107
      LRRCT; Leucine rich repeat C-terminal domain
      smart00321
      Location:107201
      WSC; present in yeast cell wall integrity and stress response component proteins
      cd00146
      Location:10671141
      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:30563175
      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:19181989
      PKD; PKD domain
      pfam08016
      Location:36494051
      PKD_channel; Polycystin cation channel
      pfam12799
      Location:2358
      LRR_4; Leucine Rich repeats (2 copies)
      sd00031
      Location:322
      LRR_1; leucine-rich repeat [structural motif]
    4. XM_011522531.1XP_011520833.1  

      Conserved Domains (10) summary
      cd00037
      Location:412525
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      TIGR00864
      Location:912730
      PCC; polycystin cation channel protein
      smart00303
      Location:30133062
      GPS; G-protein-coupled receptor proteolytic site domain
      smart00082
      Location:119171
      LRRCT; Leucine rich repeat C-terminal domain
      smart00321
      Location:171265
      WSC; present in yeast cell wall integrity and stress response component proteins
      cd00146
      Location:11311205
      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:31203239
      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:19822053
      PKD; PKD domain
      pfam08016
      Location:37134115
      PKD_channel; Polycystin cation channel
      sd00031
      Location:91110
      LRR_1; leucine-rich repeat [structural motif]
    5. XM_011522529.1XP_011520831.1  

      Conserved Domains (11) summary
      cd00037
      Location:436549
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      TIGR00864
      Location:1152746
      PCC; polycystin cation channel protein
      smart00303
      Location:30293078
      GPS; G-protein-coupled receptor proteolytic site domain
      smart00082
      Location:143195
      LRRCT; Leucine rich repeat C-terminal domain
      smart00321
      Location:195289
      WSC; present in yeast cell wall integrity and stress response component proteins
      cd00146
      Location:11471221
      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: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 ...
      pfam00801
      Location:9571024
      PKD; PKD domain
      pfam08016
      Location:37284130
      PKD_channel; Polycystin cation channel
      pfam12799
      Location:111146
      LRR_4; Leucine Rich repeats (2 copies)
      sd00031
      Location:91110
      LRR_1; leucine-rich repeat [structural motif]
    6. XM_011522528.1XP_011520830.1  

      Conserved Domains (11) summary
      cd00037
      Location:436549
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      TIGR00864
      Location:1152746
      PCC; polycystin cation channel protein
      smart00303
      Location:30293078
      GPS; G-protein-coupled receptor proteolytic site domain
      smart00082
      Location:143195
      LRRCT; Leucine rich repeat C-terminal domain
      smart00321
      Location:195289
      WSC; present in yeast cell wall integrity and stress response component proteins
      cd00146
      Location:11471221
      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: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 ...
      pfam00801
      Location:9571024
      PKD; PKD domain
      pfam08016
      Location:37294131
      PKD_channel; Polycystin cation channel
      pfam12799
      Location:111146
      LRR_4; Leucine Rich repeats (2 copies)
      sd00031
      Location:91110
      LRR_1; leucine-rich repeat [structural motif]
    7. XM_011522527.1XP_011520829.1  

      Conserved Domains (11) summary
      cd00037
      Location:436549
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      TIGR00864
      Location:1152754
      PCC; polycystin cation channel protein
      smart00303
      Location:30373086
      GPS; G-protein-coupled receptor proteolytic site domain
      smart00082
      Location:143195
      LRRCT; Leucine rich repeat C-terminal domain
      smart00321
      Location:195289
      WSC; present in yeast cell wall integrity and stress response component proteins
      cd00146
      Location:11551229
      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:31383257
      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:20062077
      PKD; PKD domain
      pfam08016
      Location:37314133
      PKD_channel; Polycystin cation channel
      pfam12799
      Location:111146
      LRR_4; Leucine Rich repeats (2 copies)
      sd00031
      Location:91110
      LRR_1; leucine-rich repeat [structural motif]
    8. XM_011522526.1XP_011520828.1  

      Conserved Domains (11) summary
      cd00037
      Location:436549
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      TIGR00864
      Location:1152754
      PCC; polycystin cation channel protein
      smart00303
      Location:30373086
      GPS; G-protein-coupled receptor proteolytic site domain
      smart00082
      Location:143195
      LRRCT; Leucine rich repeat C-terminal domain
      smart00321
      Location:195289
      WSC; present in yeast cell wall integrity and stress response component proteins
      cd00146
      Location:11551229
      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:31443263
      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:20062077
      PKD; PKD domain
      pfam08016
      Location:37364138
      PKD_channel; Polycystin cation channel
      pfam12799
      Location:111146
      LRR_4; Leucine Rich repeats (2 copies)
      sd00031
      Location:91110
      LRR_1; leucine-rich repeat [structural motif]
    9. XM_011522525.1XP_011520827.1  

      Conserved Domains (11) summary
      cd00037
      Location:436549
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      TIGR00864
      Location:1152754
      PCC; polycystin cation channel protein
      smart00303
      Location:30373086
      GPS; G-protein-coupled receptor proteolytic site domain
      smart00082
      Location:143195
      LRRCT; Leucine rich repeat C-terminal domain
      smart00321
      Location:195289
      WSC; present in yeast cell wall integrity and stress response component proteins
      cd00146
      Location:11551229
      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:31443263
      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:20062077
      PKD; PKD domain
      pfam08016
      Location:37374139
      PKD_channel; Polycystin cation channel
      pfam12799
      Location:111146
      LRR_4; Leucine Rich repeats (2 copies)
      sd00031
      Location:91110
      LRR_1; leucine-rich repeat [structural motif]
    10. XM_011522533.1XP_011520835.1  

      Conserved Domains (11) summary
      cd00037
      Location:367480
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      TIGR00864
      Location:462685
      PCC; polycystin cation channel protein
      smart00303
      Location:29683017
      GPS; G-protein-coupled receptor proteolytic site domain
      smart00082
      Location:74126
      LRRCT; Leucine rich repeat C-terminal domain
      smart00321
      Location:126220
      WSC; present in yeast cell wall integrity and stress response component proteins
      cd00146
      Location:10861160
      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:30753194
      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:19372008
      PKD; PKD domain
      pfam08016
      Location:36684070
      PKD_channel; Polycystin cation channel
      pfam12799
      Location:4277
      LRR_4; Leucine Rich repeats (2 copies)
      sd00031
      Location:2241
      LRR_1; leucine-rich repeat [structural motif]
    11. XM_011522535.1XP_011520837.1  

      Conserved Domains (7) summary
      smart00303
      Location:23112360
      GPS; G-protein-coupled receptor proteolytic site domain
      COG3291
      Location:355581
      COG3291; PKD repeat [Function unknown]
      cd00146
      Location:429503
      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:24182537
      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:12801351
      PKD; PKD domain
      pfam02010
      Location:14711914
      REJ; REJ domain
      pfam08016
      Location:30113413
      PKD_channel; Polycystin cation channel
    12. XM_011522537.1XP_011520839.1  

      Conserved Domains (7) summary
      smart00303
      Location:20372086
      GPS; G-protein-coupled receptor proteolytic site domain
      COG3291
      Location:81307
      COG3291; PKD repeat [Function unknown]
      cd00146
      Location:155229
      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: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:10061077
      PKD; PKD domain
      pfam02010
      Location:11971640
      REJ; REJ domain
      pfam08016
      Location:27373139
      PKD_channel; Polycystin cation channel
    13. XM_005255370.2XP_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
    14. XM_011522536.1XP_011520838.1  

      Conserved Domains (10) summary
      cd00037
      Location:436549
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      TIGR00864
      Location:1152754
      PCC; polycystin cation channel protein
      smart00303
      Location:30373086
      GPS; G-protein-coupled receptor proteolytic site domain
      smart00082
      Location:143195
      LRRCT; Leucine rich repeat C-terminal domain
      smart00321
      Location:195289
      WSC; present in yeast cell wall integrity and stress response component proteins
      cd00146
      Location:11551229
      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:31443263
      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:20062077
      PKD; PKD domain
      pfam12799
      Location:111146
      LRR_4; Leucine Rich repeats (2 copies)
      sd00031
      Location:91110
      LRR_1; leucine-rich repeat [structural motif]

    RNA

    1. XR_932867.1 RNA Sequence

    2. XR_932869.1 RNA Sequence

    3. XR_932868.1 RNA Sequence

    4. XR_932870.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

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