AutismKB 2.0

Annotation Details for PKD1


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Basic Information Top
Gene Symbol:PKD1 ( PBP,Pc-1,TRPP1 )
Gene Full Name: polycystic kidney disease 1 (autosomal dominant)
Band: 16p13.3
Quick LinksEntrez ID:5310; OMIM: 601313; Uniprot ID:PKD1_HUMAN; ENSEMBL ID: ENSG00000008710; HGNC ID: 9008
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139TAS-Golgi membrane-
GO:0002133ISS-polycystin complex-
GO:0005634ISS-nucleus-
GO:0005737ISS-cytoplasm-
GO:0005886IDA-plasma membrane23001567
GO:0005887TAS-integral component of plasma membrane7663510
GO:0005929ISS-cilium-
GO:0009986IEA-cell surface-
GO:0016021NAS-integral component of membrane10097141
GO:0016323IDA-basolateral plasma membrane10770959
GO:0016328IEA-lateral plasma membrane-
GO:0030660TAS-Golgi-associated vesicle membrane-
GO:0031514ISS-motile cilium-
GO:0060170TAS-ciliary membrane-
GO:0070062IDA-extracellular exosome15326289
GO ID Evidence Qualifier GO_term References
GO:0005262IBA-calcium channel activity-
GO:0005262ISS-calcium channel activity-
GO:0005515IPI-protein binding10097141
GO:0019901IPI-protein kinase binding17980165
GO:0019904IPI-protein domain specific binding9171830
GO:0030246IEA-carbohydrate binding-
GO:0044325IPI-ion channel binding9192675
GO ID Evidence Qualifier GO_term References
GO:0001502IEA-cartilage condensation-
GO:0001701ISS-in utero embryonic development-
GO:0001822ISS-kidney development-
GO:0001889IEA-liver development-
GO:0001892ISS-embryonic placenta development-
GO:0006611ISS-protein export from nucleus-
GO:0007050ISS-cell cycle arrest-
GO:0007156TAS-homophilic cell adhesion via plasma membrane adhesion molecules10861291
GO:0007160TAS-cell-matrix adhesion7663510
GO:0007161TAS-calcium-independent cell-matrix adhesion10861291
GO:0007204IEA-positive regulation of cytosolic calcium ion concentration-
GO:0007259ISS-JAK-STAT cascade-
GO:0007507IEP-heart development11891195
GO:0009653TAS-anatomical structure morphogenesis9326937
GO:0016337IEA-single organismal cell-cell adhesion-
GO:0018105ISS-peptidyl-serine phosphorylation-
GO:0021510IEP-spinal cord development11891195
GO:0021915IEP-neural tube development11891195
GO:0030010IEA-establishment of cell polarity-
GO:0030155IEA-regulation of cell adhesion-
GO:0031659IDA-positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle16311606
GO:0032092ISS-positive regulation of protein binding-
GO:0034405IEA-response to fluid shear stress-
GO:0036303IEA-lymph vessel morphogenesis-
GO:0042994ISS-cytoplasmic sequestering of transcription factor-
GO:0043588IEP-skin development11891195
GO:0045944IDA-positive regulation of transcription from RNA polymerase II promoter16311606
GO:0048565IEP-digestive tract development11891195
GO:0048754IDA-branching morphogenesis of an epithelial tube12482949
GO:0048806IEP-genitalia development11891195
GO:0050982IBA-detection of mechanical stimulus-
GO:0050982ISS-detection of mechanical stimulus-
GO:0051216IEP-cartilage development11891195
GO:0060236IEA-regulation of mitotic spindle organization-
GO:0060428IEP-lung epithelium development11891195
GO:0060674ISS-placenta blood vessel development-
GO:0061136IDA-regulation of proteasomal protein catabolic process23001567
GO:0070588ISS-calcium ion transmembrane transport-
GO:0072164IEP-mesonephric tubule development11891195
GO:0072177IEP-mesonephric duct development11891195
GO:0072205IEP-metanephric collecting duct development11891195
GO:0072218IEP-metanephric ascending thin limb development11891195
GO:0072237IEP-metanephric proximal tubule development11891195
GO:0072287IEP-metanephric distal tubule morphogenesis11891195
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PKD1COL1A111132711752017 Reconstituted Complex
PKD1COL1A110767411752017 Reconstituted Complex
PKD1COL2A111132711406351 Reconstituted Complex
PKD1COL2A110767711406351 Reconstituted Complex
PKD1FN111132711752017 Reconstituted Complex
PKD1FN110862111752017 Reconstituted Complex
PKD1KRT1811007311581269 Reconstituted Complex
PKD1KRT1811132711581269 Reconstituted Complex
PKD2PKD11113279192675 10097141 Affinity Capture-Western; Two-hybrid
PKD2PKD11113289192675 10097141 Affinity Capture-Western; Two-hybrid
RGS7PKD111132710339594 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
RGS7PKD111193210339594 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
UBCPKD111316415284290 Affinity Capture-Western
UBCPKD111132715284290 Affinity Capture-Western
SIAH1PKD111132715284290 Affinity Capture-Western; Two-hybrid
SIAH1PKD111237215284290 Affinity Capture-Western; Two-hybrid
HDAC9PKD111132715623513 15738054 Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
HDAC9PKD111508315623513 15738054 Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:97603
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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