• Gene id: 5310

Gene Summary

• Gene Symbol: PKD1   Gene   UCSC   Ensembl
• Aliases: PBP, PC1, Pc-1, TRPP1
• Gene name: polycystin 1, transient receptor potential channel interacting
• Alternate names: polycystin-1, 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,
• Gene location: 16p13.3 (2135897: 2088707)     Exons: 50     NC_000016.10
• Gene summary(Entrez): 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 regulat
• OMIM: 601313

Protein Summary

• Protein general information: P98161  
  • Name: Polycystin 1 (PC1) (Autosomal dominant polycystic kidney disease 1 protein)
  • Length: 4303  
  • Mass: 462,529
• Sequence:

  MPPAAPARLALALGLGLWLGALAGGPGRGCGPCEPPCLCGPAPGAACRVNCSGRGLRTLGPALRIPADATALDVS
  HNLLRALDVGLLANLSALAELDISNNKISTLEEGIFANLFNLSEINLSGNPFECDCGLAWLPRWAEEQQVRVVQP
  EAATCAGPGSLAGQPLLGIPLLDSGCGEEYVACLPDNSSGTVAAVSFSAAHEGLLQPEACSAFCFSTGQGLAALS
  EQGWCLCGAAQPSSASFACLSLCSGPPPPPAPTCRGPTLLQHVFPASPGATLVGPHGPLASGQLAAFHIAAPLPV
  TATRWDFGDGSAEVDAAGPAASHRYVLPGRYHVTAVLALGAGSALLGTDVQVEAAPAALELVCPSSVQSDESLDL
  SIQNRGGSGLEAAYSIVALGEEPARAVHPLCPSDTEIFPGNGHCYRLVVEKAAWLQAQEQCQAWAGAALAMVDSP
  AVQRFLVSRVTRSLDVWIGFSTVQGVEVGPAPQGEAFSLESCQNWLPGEPHPATAEHCVRLGPTGWCNTDLCSAP
  HSYVCELQPGGPVQDAENLLVGAPSGDLQGPLTPLAQQDGLSAPHEPVEVMVFPGLRLSREAFLTTAEFGTQELR
  RPAQLRLQVYRLLSTAGTPENGSEPESRSPDNRTQLAPACMPGGRWCPGANICLPLDASCHPQACANGCTSGPGL
  PGAPYALWREFLFSVPAGPPAQYSVTLHGQDVLMLPGDLVGLQHDAGPGALLHCSPAPGHPGPRAPYLSANASSW
  LPHLPAQLEGTWACPACALRLLAATEQLTVLLGLRPNPGLRLPGRYEVRAEVGNGVSRHNLSCSFDVVSPVAGLR
  VIYPAPRDGRLYVPTNGSALVLQVDSGANATATARWPGGSVSARFENVCPALVATFVPGCPWETNDTLFSVVALP
  WLSEGEHVVDVVVENSASRANLSLRVTAEEPICGLRATPSPEARVLQGVLVRYSPVVEAGSDMVFRWTINDKQSL
  TFQNVVFNVIYQSAAVFKLSLTASNHVSNVTVNYNVTVERMNRMQGLQVSTVPAVLSPNATLALTAGVLVDSAVE
  VAFLWTFGDGEQALHQFQPPYNESFPVPDPSVAQVLVEHNVMHTYAAPGEYLLTVLASNAFENLTQQVPVSVRAS
  LPSVAVGVSDGVLVAGRPVTFYPHPLPSPGGVLYTWDFGDGSPVLTQSQPAANHTYASRGTYHVRLEVNNTVSGA
  AAQADVRVFEELRGLSVDMSLAVEQGAPVVVSAAVQTGDNITWTFDMGDGTVLSGPEATVEHVYLRAQNCTVTVG
  AASPAGHLARSLHVLVFVLEVLRVEPAACIPTQPDARLTAYVTGNPAHYLFDWTFGDGSSNTTVRGCPTVTHNFT
  RSGTFPLALVLSSRVNRAHYFTSICVEPEVGNVTLQPERQFVQLGDEAWLVACAWPPFPYRYTWDFGTEEAAPTR
  ARGPEVTFIYRDPGSYLVTVTASNNISAANDSALVEVQEPVLVTSIKVNGSLGLELQQPYLFSAVGRGRPASYLW
  DLGDGGWLEGPEVTHAYNSTGDFTVRVAGWNEVSRSEAWLNVTVKRRVRGLVVNASRTVVPLNGSVSFSTSLEAG
  SDVRYSWVLCDRCTPIPGGPTISYTFRSVGTFNIIVTAENEVGSAQDSIFVYVLQLIEGLQVVGGGRYFPTNHTV
  QLQAVVRDGTNVSYSWTAWRDRGPALAGSGKGFSLTVLEAGTYHVQLRATNMLGSAWADCTMDFVEPVGWLMVAA
  SPNPAAVNTSVTLSAELAGGSGVVYTWSLEEGLSWETSEPFTTHSFPTPGLHLVTMTAGNPLGSANATVEVDVQV
  PVSGLSIRASEPGGSFVAAGSSVPFWGQLATGTNVSWCWAVPGGSSKRGPHVTMVFPDAGTFSIRLNASNAVSWV
  SATYNLTAEEPIVGLVLWASSKVVAPGQLVHFQILLAAGSAVTFRLQVGGANPEVLPGPRFSHSFPRVGDHVVSV
  RGKNHVSWAQAQVRIVVLEAVSGLQVPNCCEPGIATGTERNFTARVQRGSRVAYAWYFSLQKVQGDSLVILSGRD
  VTYTPVAAGLLEIQVRAFNALGSENRTLVLEVQDAVQYVALQSGPCFTNRSAQFEAATSPSPRRVAYHWDFGDGS
  PGQDTDEPRAEHSYLRPGDYRVQVNASNLVSFFVAQATVTVQVLACREPEVDVVLPLQVLMRRSQRNYLEAHVDL
  RDCVTYQTEYRWEVYRTASCQRPGRPARVALPGVDVSRPRLVLPRLALPVGHYCFVFVVSFGDTPLTQSIQANVT
  VAPERLVPIIEGGSYRVWSDTRDLVLDGSESYDPNLEDGDQTPLSFHWACVASTQREAGGCALNFGPRGSSTVTI
  PRERLAAGVEYTFSLTVWKAGRKEEATNQTVLIRSGRVPIVSLECVSCKAQAVYEVSRSSYVYLEGRCLNCSSGS
  KRGRWAARTFSNKTLVLDETTTSTGSAGMRLVLRRGVLRDGEGYTFTLTVLGRSGEEEGCASIRLSPNRPPLGGS
  CRLFPLGAVHALTTKVHFECTGWHDAEDAGAPLVYALLLRRCRQGHCEEFCVYKGSLSSYGAVLPPGFRPHFEVG
  LAVVVQDQLGAAVVALNRSLAITLPEPNGSATGLTVWLHGLTASVLPGLLRQADPQHVIEYSLALVTVLNEYERA
  LDVAAEPKHERQHRAQIRKNITETLVSLRVHTVDDIQQIAAALAQCMGPSRELVCRSCLKQTLHKLEAMMLILQA
  ETTAGTVTPTAIGDSILNITGDLIHLASSDVRAPQPSELGAESPSRMVASQAYNLTSALMRILMRSRVLNEEPLT
  LAGEEIVAQGKRSDPRSLLCYGGAPGPGCHFSIPEAFSGALANLSDVVQLIFLVDSNPFPFGYISNYTVSTKVAS
  MAFQTQAGAQIPIERLASERAITVKVPNNSDWAARGHRSSANSANSVVVQPQASVGAVVTLDSSNPAAGLHLQLN
  YTLLDGHYLSEEPEPYLAVYLHSEPRPNEHNCSASRRIRPESLQGADHRPYTFFISPGSRDPAGSYHLNLSSHFR
  WSALQVSVGLYTSLCQYFSEEDMVWRTEGLLPLEETSPRQAVCLTRHLTAFGASLFVPPSHVRFVFPEPTADVNY
  IVMLTCAVCLVTYMVMAAILHKLDQLDASRGRAIPFCGQRGRFKYEILVKTGWGRGSGTTAHVGIMLYGVDSRSG
  HRHLDGDRAFHRNSLDIFRIATPHSLGSVWKIRVWHDNKGLSPAWFLQHVIVRDLQTARSAFFLVNDWLSVETEA
  NGGLVEKEVLAASDAALLRFRRLLVAELQRGFFDKHIWLSIWDRPPRSRFTRIQRATCCVLLICLFLGANAVWYG
  AVGDSAYSTGHVSRLSPLSVDTVAVGLVSSVVVYPVYLAILFLFRMSRSKVAGSPSPTPAGQQVLDIDSCLDSSV
  LDSSFLTFSGLHAEQAFVGQMKSDLFLDDSKSLVCWPSGEGTLSWPDLLSDPSIVGSNLRQLARGQAGHGLGPEE
  DGFSLASPYSPAKSFSASDEDLIQQVLAEGVSSPAPTQDTHMETDLLSSLSSTPGEKTETLALQRLGELGPPSPG
  LNWEQPQAARLSRTGLVEGLRKRLLPAWCASLAHGLSLLLVAVAVAVSGWVGASFPPGVSVAWLLSSSASFLASF
  LGWEPLKVLLEALYFSLVAKRLHPDEDDTLVESPAVTPVSARVPRVRPPHGFALFLAKEEARKVKRLHGMLRSLL
  VYMLFLLVTLLASYGDASCHGHAYRLQSAIKQELHSRAFLAITRSEELWPWMAHVLLPYVHGNQSSPELGPPRLR
  QVRLQEALYPDPPGPRVHTCSAAGGFSTSDYDVGWESPHNGSGTWAYSAPDLLGAWSWGSCAVYDSGGYVQELGL
  SLEESRDRLRFLQLHNWLDNRSRAVFLELTRYSPAVGLHAAVTLRLEFPAAGRALAALSVRPFALRRLSAGLSLP
  LLTSVCLLLFAVHFAVAEARTWHREGRWRVLRLGAWARWLLVALTAATALVRLAQLGAADRQWTRFVRGRPRRFT
  SFDQVAQLSSAARGLAASLLFLLLVKAAQQLRFVRQWSVFGKTLCRALPELLGVTLGLVVLGVAYAQLAILLVSS
  CVDSLWSVAQALLVLCPGTGLSTLCPAESWHLSPLLCVGLWALRLWGALRLGAVILRWRYHALRGELYRPAWEPQ
  DYEMVELFLRRLRLWMGLSKVKEFRHKVRFEGMEPLPSRSSRGSKVSPDVPPPSAGSDASHPSTSSSQLDGLSVS
  LGRLGTRCEPEPSRLQAVFEALLTQFDRLNQATEDVYQLEQQLHSLQGRRSSRAPAGSSRGPSPGLRPALPSRLA
  RASRGVDLATGPSRTPLRAKNKVHPSST

• Structural information:
  • Protein Domains: LRRNT (24-67)
    LRRCT (125-178)
    WSC. (177-271)
    PKD (272-359)
    C-type (415-531)
    L (638-671)
  • Interpro: IPR001304  IPR016186  IPR016187  IPR000483  IPR000203   IPR013783  IPR001611  IPR003591  IPR032675  IPR000372  IPR000434  IPR022409  IPR002859  IPR013122  IPR000601  IPR035986  IPR001024  IPR036392  IPR006228  IPR014010  IPR002889  
  • Prosite: PS50041 PS50221 PS51450 PS50093 PS50095 PS51111 PS51212
  • PDB: 1B4R
  • PDBsum: 1B4R
  • DIP: 52317
  • STRING: ENSP00000262304
• Other Databases: GeneCards:  PKD1  Malacards:  PKD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0001502	cartilage condensation	IEA	biological process
GO:0001701	in utero embryonic development	ISS	biological process
GO:0001822	kidney development	ISS	biological process
GO:0001889	liver development	IEA	biological process
GO:0001892	embryonic placenta development	ISS	biological process
GO:0002133	polycystin complex	ISS	cellular component
GO:0005262	calcium channel activity	ISS	molecular function
GO:0005262	calcium channel activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005929	cilium	ISS	cellular component
GO:0006611	protein export from nucleus	ISS	biological process
GO:0006807	nitrogen compound metabolic process	IEA	biological process
GO:0007050	cell cycle arrest	ISS	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	TAS	biological process
GO:0007160	cell-matrix adhesion	TAS	biological process
GO:0007161	calcium-independent cell-matrix adhesion	TAS	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0007259	JAK-STAT cascade	ISS	biological process
GO:0007507	heart development	IEP	biological process
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0016328	lateral plasma membrane	IEA	cellular component
GO:0016337	single organismal cell-cell adhesion	IEA	biological process
GO:0018105	peptidyl-serine phosphorylation	ISS	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0021510	spinal cord development	IEP	biological process
GO:0021915	neural tube development	IEP	biological process
GO:0030010	establishment of cell polarity	IEA	biological process
GO:0030155	regulation of cell adhesion	IEA	biological process
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular component
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular component
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular component
GO:0031659	positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle	IDA	biological process
GO:0032092	positive regulation of protein binding	ISS	biological process
GO:0034405	response to fluid shear stress	IEA	biological process
GO:0036303	lymph vessel morphogenesis	IEA	biological process
GO:0042994	cytoplasmic sequestering of transcription factor	ISS	biological process
GO:0043588	skin development	IEP	biological process
GO:0044325	ion channel binding	IPI	molecular function
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0048565	digestive tract development	IEP	biological process
GO:0048754	branching morphogenesis of an epithelial tube	IDA	biological process
GO:0048806	genitalia development	IEP	biological process
GO:0050982	detection of mechanical stimulus	ISS	biological process
GO:0050982	detection of mechanical stimulus	IBA	biological process
GO:0051216	cartilage development	IEP	biological process
GO:0060170	ciliary membrane	TAS	cellular component
GO:0060236	regulation of mitotic spindle organization	IEA	biological process
GO:0060428	lung epithelium development	IEP	biological process
GO:0060674	placenta blood vessel development	ISS	biological process
GO:0061136	regulation of proteasomal protein catabolic process	IDA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070588	calcium ion transmembrane transport	ISS	biological process
GO:0072164	mesonephric tubule development	IEP	biological process
GO:0072177	mesonephric duct development	IEP	biological process
GO:0072205	metanephric collecting duct development	IEP	biological process
GO:0072218	metanephric ascending thin limb development	IEP	biological process
GO:0072237	metanephric proximal tubule development	IEP	biological process
GO:0072287	metanephric distal tubule morphogenesis	IEP	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0001502	cartilage condensation	IEA	biological process
GO:0001568	blood vessel development	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001701	in utero embryonic development	ISS	biological process
GO:0001822	kidney development	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0001822	kidney development	ISS	biological process
GO:0001889	liver development	IEA	biological process
GO:0001892	embryonic placenta development	IEA	biological process
GO:0001892	embryonic placenta development	ISS	biological process
GO:0002133	polycystin complex	IEA	cellular component
GO:0002133	polycystin complex	ISS	cellular component
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005262	calcium channel activity	ISS	molecular function
GO:0005262	calcium channel activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005929	cilium	ISS	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0006611	protein export from nucleus	IEA	biological process
GO:0006611	protein export from nucleus	ISS	biological process
GO:0006807	nitrogen compound metabolic process	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0007050	cell cycle arrest	IEA	biological process
GO:0007050	cell cycle arrest	ISS	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	TAS	biological process
GO:0007160	cell-matrix adhesion	TAS	biological process
GO:0007161	calcium-independent cell-matrix adhesion	TAS	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0007259	JAK-STAT cascade	IEA	biological process
GO:0007259	JAK-STAT cascade	ISS	biological process
GO:0007507	heart development	IEA	biological process
GO:0007507	heart development	IEP	biological process
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0016328	lateral plasma membrane	IEA	cellular component
GO:0016337	single organismal cell-cell adhesion	IEA	biological process
GO:0018105	peptidyl-serine phosphorylation	IEA	biological process
GO:0018105	peptidyl-serine phosphorylation	ISS	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0021510	spinal cord development	IEP	biological process
GO:0021915	neural tube development	IEP	biological process
GO:0030010	establishment of cell polarity	IEA	biological process
GO:0030155	regulation of cell adhesion	IEA	biological process
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular component
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular component
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular component
GO:0031659	positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle	IDA	biological process
GO:0032092	positive regulation of protein binding	IEA	biological process
GO:0032092	positive regulation of protein binding	ISS	biological process
GO:0034405	response to fluid shear stress	IEA	biological process
GO:0036303	lymph vessel morphogenesis	IEA	biological process
GO:0042994	cytoplasmic sequestering of transcription factor	IEA	biological process
GO:0042994	cytoplasmic sequestering of transcription factor	ISS	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0043588	skin development	IEP	biological process
GO:0044325	ion channel binding	IPI	molecular function
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0048565	digestive tract development	IEP	biological process
GO:0048754	branching morphogenesis of an epithelial tube	IEA	biological process
GO:0048754	branching morphogenesis of an epithelial tube	IDA	biological process
GO:0048806	genitalia development	IEP	biological process
GO:0050982	detection of mechanical stimulus	IEA	biological process
GO:0050982	detection of mechanical stimulus	ISS	biological process
GO:0050982	detection of mechanical stimulus	IBA	biological process
GO:0051216	cartilage development	IEP	biological process
GO:0060170	ciliary membrane	TAS	cellular component
GO:0060236	regulation of mitotic spindle organization	IEA	biological process
GO:0060428	lung epithelium development	IEP	biological process
GO:0060674	placenta blood vessel development	IEA	biological process
GO:0060674	placenta blood vessel development	ISS	biological process
GO:0061136	regulation of proteasomal protein catabolic process	IEA	biological process
GO:0061136	regulation of proteasomal protein catabolic process	IDA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	ISS	biological process
GO:0072001	renal system development	IEA	biological process
GO:0072164	mesonephric tubule development	IEP	biological process
GO:0072177	mesonephric duct development	IEP	biological process
GO:0072205	metanephric collecting duct development	IEP	biological process
GO:0072218	metanephric ascending thin limb development	IEP	biological process
GO:0072237	metanephric proximal tubule development	IEP	biological process
GO:0072287	metanephric distal tubule morphogenesis	IEP	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0001701	in utero embryonic development	ISS	biological process
GO:0001822	kidney development	ISS	biological process
GO:0001892	embryonic placenta development	ISS	biological process
GO:0002133	polycystin complex	ISS	cellular component
GO:0005262	calcium channel activity	ISS	molecular function
GO:0005262	calcium channel activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005929	cilium	ISS	cellular component
GO:0006611	protein export from nucleus	ISS	biological process
GO:0007050	cell cycle arrest	ISS	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	TAS	biological process
GO:0007160	cell-matrix adhesion	TAS	biological process
GO:0007161	calcium-independent cell-matrix adhesion	TAS	biological process
GO:0007259	JAK-STAT cascade	ISS	biological process
GO:0007507	heart development	IEP	biological process
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0018105	peptidyl-serine phosphorylation	ISS	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0021510	spinal cord development	IEP	biological process
GO:0021915	neural tube development	IEP	biological process
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular component
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular component
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular component
GO:0031659	positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle	IDA	biological process
GO:0032092	positive regulation of protein binding	ISS	biological process
GO:0042994	cytoplasmic sequestering of transcription factor	ISS	biological process
GO:0043588	skin development	IEP	biological process
GO:0044325	ion channel binding	IPI	molecular function
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0048565	digestive tract development	IEP	biological process
GO:0048754	branching morphogenesis of an epithelial tube	IDA	biological process
GO:0048806	genitalia development	IEP	biological process
GO:0050982	detection of mechanical stimulus	ISS	biological process
GO:0050982	detection of mechanical stimulus	IBA	biological process
GO:0051216	cartilage development	IEP	biological process
GO:0060170	ciliary membrane	TAS	cellular component
GO:0060428	lung epithelium development	IEP	biological process
GO:0060674	placenta blood vessel development	ISS	biological process
GO:0061136	regulation of proteasomal protein catabolic process	IDA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070588	calcium ion transmembrane transport	ISS	biological process
GO:0072164	mesonephric tubule development	IEP	biological process
GO:0072177	mesonephric duct development	IEP	biological process
GO:0072205	metanephric collecting duct development	IEP	biological process
GO:0072218	metanephric ascending thin limb development	IEP	biological process
GO:0072237	metanephric proximal tubule development	IEP	biological process
GO:0072287	metanephric distal tubule morphogenesis	IEP	biological process

Diseases

Associated diseases	References
Hypertension	GAD: 19194729
Polycystic kidney disease	KEGG: H00542
Stroke	GAD: 16741147
Caroli's disease	GAD: 9211343
Male factor infertility	MIK: 23933588
Potter syndrome	KEGG: H01728
Renal disease	GAD: 11961010
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 23933588
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23933588	Male infertility				Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray
29896735	Male infertility	c.6953_6977 del(p.Arg2318Hisfs*15) and c.10937T>G (p.Val3646Gly)			Male infertility