ENSG00000008710


Homo sapiens

Features
Gene ID: ENSG00000008710
  
Biological name :PKD1
  
Synonyms : P98161 / PKD1 / polycystin 1, transient receptor potential channel interacting
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: -1
Band: p13.3
Gene start: 2088710
Gene end: 2135898
  
Corresponding Affymetrix probe sets: 202327_s_at (Human Genome U133 Plus 2.0 Array)   202328_s_at (Human Genome U133 Plus 2.0 Array)   214682_at (Human Genome U133 Plus 2.0 Array)   216949_s_at (Human Genome U133 Plus 2.0 Array)   240376_s_at (Human Genome U133 Plus 2.0 Array)   240377_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000461391
Ensembl peptide - ENSP00000457162
Ensembl peptide - ENSP00000457984
Ensembl peptide - ENSP00000262304
Ensembl peptide - ENSP00000399501
Ensembl peptide - ENSP00000455753
Ensembl peptide - ENSP00000456670
Ensembl peptide - ENSP00000456672
Ensembl peptide - ENSP00000457132
NCBI entrez gene - 5310     See in Manteia.
OMIM - 601313
RefSeq - XM_017023285
RefSeq - NM_000296
RefSeq - NM_001009944
RefSeq - XM_005255370
RefSeq - XM_011522528
RefSeq - XM_011522529
RefSeq - XM_011522530
RefSeq - XM_011522532
RefSeq - XM_011522534
RefSeq - XM_011522535
RefSeq - XM_011522537
RefSeq Peptide - NP_000287
RefSeq Peptide - NP_001009944
swissprot - H3BTE0
swissprot - H3BTG3
swissprot - H3BV77
swissprot - H3BSE8
swissprot - P98161
swissprot - H3BQF4
swissprot - I3L4N0
swissprot - H3BSE9
Ensembl - ENSG00000008710
  
Related genetic diseases (OMIM): 173900 - Polycystic kidney disease 1, 173900
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pkd1aENSDARG00000030417Danio rerio
 PKD1ENSGALG00000005714Gallus gallus
 Pkd1ENSMUSG00000032855Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PKD1L1 / Q8TDX9 / polycystin 1 like 1, transient receptor potential channel interactingENSG0000015868311
PKDREJ / Q9NTG1 / polycystin family receptor for egg jellyENSG000001309438
PKD1L3 / Q7Z443 / polycystin 1 like 3, transient receptor potential channel interactingENSG000002774817
PKD2 / Q13563 / polycystin 2, transient receptor potential cation channelENSG000001187624
PKD2L1 / Q9P0L9 / polycystin 2 like 1, transient receptor potential cation channelENSG000001075933
PKD2L2 / Q9NZM6 / polycystin 2 like 2, transient receptor potential cation channelENSG000000787952
PKD1L2 / Q7Z442 / polycystin 1 like 2 (gene/pseudogene)ENSG000001664731


Protein motifs (from Interpro)
Interpro ID Name
 IPR000203  GPS motif
 IPR000372  Leucine-rich repeat N-terminal domain
 IPR000434  Polycystic kidney disease type 1 protein
 IPR000483  Cysteine-rich flanking region, C-terminal
 IPR000601  PKD domain
 IPR001024  PLAT/LH2 domain
 IPR001304  C-type lectin-like
 IPR001611  Leucine-rich repeat
 IPR002859  PKD/REJ-like domain
 IPR002889  Carbohydrate-binding WSC
 IPR003591  Leucine-rich repeat, typical subtype
 IPR006228  Polycystin cation channel
 IPR013122  Polycystin cation channel, PKD1/PKD2
 IPR013783  Immunoglobulin-like fold
 IPR014010  REJ domain
 IPR016186  C-type lectin-like/link domain superfamily
 IPR016187  C-type lectin fold
 IPR022409  PKD/Chitinase domain
 IPR032675  Leucine-rich repeat domain superfamily
 IPR035986  PKD domain superfamily
 IPR036392  PLAT/LH2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001502 cartilage condensation IEA
 biological_processGO:0001568 blood vessel development IEA
 biological_processGO:0001701 in utero embryonic development ISS
 biological_processGO:0001822 kidney development IEA
 biological_processGO:0001889 liver development IEA
 biological_processGO:0001892 embryonic placenta development ISS
 biological_processGO:0006611 protein export from nucleus ISS
 biological_processGO:0006807 nitrogen compound metabolic process IEA
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0007050 cell cycle arrest ISS
 biological_processGO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules TAS
 biological_processGO:0007160 cell-matrix adhesion TAS
 biological_processGO:0007161 calcium-independent cell-matrix adhesion TAS
 biological_processGO:0007204 positive regulation of cytosolic calcium ion concentration IEA
 biological_processGO:0007259 JAK-STAT cascade ISS
 biological_processGO:0007507 heart development IEP
 biological_processGO:0009653 anatomical structure morphogenesis TAS
 biological_processGO:0018105 peptidyl-serine phosphorylation ISS
 biological_processGO:0021510 spinal cord development IEP
 biological_processGO:0021915 neural tube development IEP
 biological_processGO:0030010 establishment of cell polarity IEA
 biological_processGO:0030155 regulation of cell adhesion IEA
 biological_processGO:0031659 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle IDA
 biological_processGO:0032092 positive regulation of protein binding ISS
 biological_processGO:0034405 response to fluid shear stress IEA
 biological_processGO:0036303 lymph vessel morphogenesis IEA
 biological_processGO:0042994 cytoplasmic sequestering of transcription factor ISS
 biological_processGO:0043588 skin development IEP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0048565 digestive tract development IEP
 biological_processGO:0048754 branching morphogenesis of an epithelial tube IDA
 biological_processGO:0048806 genitalia development IEP
 biological_processGO:0050982 detection of mechanical stimulus IBA
 biological_processGO:0051216 cartilage development IEP
 biological_processGO:0060236 regulation of mitotic spindle organization IEA
 biological_processGO:0060428 lung epithelium development IEP
 biological_processGO:0060674 placenta blood vessel development ISS
 biological_processGO:0061136 regulation of proteasomal protein catabolic process IDA
 biological_processGO:0070588 calcium ion transmembrane transport ISS
 biological_processGO:0072001 renal system development IEA
 biological_processGO:0072164 mesonephric tubule development IEP
 biological_processGO:0072177 mesonephric duct development IEP
 biological_processGO:0072205 metanephric collecting duct development IEP
 biological_processGO:0072218 metanephric ascending thin limb development IEP
 biological_processGO:0072237 metanephric proximal tubule development IEP
 biological_processGO:0072287 metanephric distal tubule morphogenesis IEP
 biological_processGO:0098609 cell-cell adhesion IEA
 cellular_componentGO:0000139 Golgi membrane TAS
 cellular_componentGO:0002133 polycystin complex ISS
 cellular_componentGO:0005634 nucleus ISS
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0005929 cilium ISS
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IDA
 cellular_componentGO:0016328 lateral plasma membrane IEA
 cellular_componentGO:0030660 Golgi-associated vesicle membrane TAS
 cellular_componentGO:0031514 motile cilium ISS
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0060170 ciliary membrane TAS
 cellular_componentGO:0070062 extracellular exosome IDA
 molecular_functionGO:0005262 calcium channel activity ISS
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0019901 protein kinase binding IPI
 molecular_functionGO:0019904 protein domain specific binding IPI
 molecular_functionGO:0030246 carbohydrate binding IEA
 molecular_functionGO:0044325 ion channel binding IPI


Pathways (from Reactome)
Pathway description
VxPx cargo-targeting to cilium


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000083 Renal failure 
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 HP:0000113 Polycystic kidney 
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0001407 Hepatic cysts 
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 HP:0001634 Mitral valve prolapse 
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 HP:0001653 Mitral regurgitation "An `abnormality of the mitral valve` (HP:0001633) characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [HPO:probinson]
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 HP:0002253 Colon diverticula 
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 HP:0007029 Cerebral berry aneurysms 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000103769 P62491 / RAB11A / RAB11A, member RAS oncogene family  / complex / reaction
 ENSG00000090565 O75154 / RAB11FIP3 / RAB11 family interacting protein 3  / complex / reaction
 ENSG00000127328 Q96QF0 / RAB3IP / RAB3A interacting protein  / reaction / complex
 ENSG00000167461 RAB8A / P61006 / RAB8A, member RAS oncogene family  / complex / reaction
 ENSG00000168374 ARF4 / P18085 / ADP ribosylation factor 4  / reaction / complex
 ENSG00000153317 ASAP1 / Q9ULH1 / ArfGAP with SH3 domain, ankyrin repeat and PH domain 1  / complex / reaction






 

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