PKD1L3 (polycystin 1 like 3, transient receptor potential channel interacting)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
342372
Gene name Gene Name - the full gene name approved by the HGNC.
Polycystin 1 like 3, transient receptor potential channel interacting
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PKD1L3
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q22.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may f
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(22)
GO ID Ontology Definition Evidence Reference
GO:0001581 Process Detection of chemical stimulus involved in sensory perception of sour taste ISS
GO:0001581 Process Detection of chemical stimulus involved in sensory perception of sour taste ISS
GO:0001822 Process Kidney development IEA
GO:0005261 Function Cation channel activity ISS
GO:0005262 Function Calcium channel activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607895 21716 ENSG00000277481
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q7Z443
Protein name Polycystin-1-like protein 3 (Polycystin-1L3) (PC1-like 3 protein) (Polycystic kidney disease protein 1-like 3)
Protein function Pore-forming subunit of a heterotetrameric, non-selective cation channel that is permeable to Ca(2+) (PubMed:19464260, PubMed:23212381). Also shows permeability towards NA(1+), K(+) and Mg(2+) (PubMed:23212381). Heterotetrameric complex channel
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00059 Lectin_C 41 → 139 Lectin C-type domain Domain
PF01825 GPS 633 → 673 GPCR proteolysis site, GPS, motif Motif
PF01477 PLAT 745 → 860 PLAT/LH2 domain Domain
PF08016 PKD_channel 1438 → 1680 Polycystin cation channel Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in placenta, weakly in heart and lung. {ECO:0000269|PubMed:12782129}.
Sequence 
MFFKGGSWLWLYIRTSIILGSELNSPAPHGQNNCYQLNRFQCSFEEAQHYCHVQRGFLAH
IWNKEVQDLIRDYLEEGKKWWIGQNVMPLKKHQDNKYPADVAANGPPKPLSCTYLSRNFI
RISSKGDKCLLKYYFICQTGDFLDGDAHYERNGNNSHLYQRHKKTKRGVAIARDKMPPGP
GHLPTTCHYPLPAHLSKTLCHPISQFPSVLSSITSQVTSAASEPSSQPLPVITQLTMPVS
VTHAGQSLAETTSSPKEEGHPNTFTSYLQVSLQKASGQVIDEIAGNFSRAVHGLQALNKL
QEACEFLQKLTALTPRFSKPAQVNLINSLIYLSEELLRIPFQNNNSLGFKVPPTVCPFHS
LNNVTKAGEGSWLESKRHTEPVEDILEMSLVEFGNIGEAFLEQNQSPESSVTLTSANATL
LLSRQNISTLPLSSYTLGHPAPVRLGFPSALALKELLNKHPGVNVQITGLAFNPFKDLDN
RNIVGSIGSVLLSANRKLLQVHDLMEDIEIMLWRNVSLETHPTSLNMSTHQLTITVNVTS
LEKSLIVSIDPDSPLLMTLYLGFQYQPNCTHFHLNITLPKDKVWQKDEEYTWVLNPEHLQ
HGIGTYYITAVLSERQEGAQQTPSLVSVITAVTQCYYWEIHNQTWSSAGCQVGPQSTILR
TQCLCNHLTFFASDFFVVPRTVNVEDTIKLFLRVTNNPVGVSLLASLLGFYVITVVWARK
KDQADMQKVKVTVLADNDPSAQFHYLIQVYTGYRRSAATTAKVVITLYGSEGRSEPHHLC
DPQKTVFERGGLDVFLLTTWTSLGNLHSLRLWHDNSGVSPSWYVSQVIVCDMAVKRKWHF
LCNCWLAVDLGDCELDRVFIPVSKRELFSFRHLFSSMIVEKFTQDYLWLSIATRHPWNQF
TRVQRLSCCMTLLLCNMVINVMFWKINSTTAKRDEQMRPFAVAWSELLVSIHTAVILFPI
NLVIGRLFPLIEPQETLPLFPPIQASCLSDASVEPLSATMVVEELKETVRFLLRRNTYLL
SKCEQPPWSSWDITKLVKLLSSLVSSHLEGQGCHQQGERHWARVVPENHHHFCCYLHRVL
QRLKSHLGTLGLTQGHQSCDFLDAASQLQKLQELLETHILPTEQEPSREVTSFAILSSEE
GKKPISNGLSKWLTSVCWLLLGFTSLASAFFTALYSLELSKDQATSWMISIILSVLQNIF
ISQPVKVVFFTFLYSLMMSRMPRLNKENEQQTKRILALLAKCSSSVPGSRDKNNPVYVAP
AINSPTKHPERTLKKKKLFKLTGDILVQILFLTLLMTAIYSAKNSNRFYLHQAIWKTFSH
QFSEIKLLQDFYPWANHILLPSLYGDYRGKNAVLEPSHCKCGVQLIFQIPRTKTYEKVDE
GQLAFCDNGHTCGRPKSLFPGLHLRRFSYICSPRPMVLIPTDELHERLTSKNENGFSYIM
RGAFFTSLRLESFTSLQMSKKGCVWSIISQVIYYLLVCYYAFIQGCQLKQQKWRFFTGKR
NILDTSIILISFILLGLDMKSISLHKKNMARYRDDQDRFISFYEAVKVNSAATHLVGFPV
LLATVQLWNLLRHSPRLRVISRTLSRAWDEVVGFLLIILILLTGYAIAFNLLFGCSISDY
RTFFSSAVTVVGLLMGISHQEEVFALDPVLGTFLILTSVILMVLVVINLFVSAILMAFGK
ERKSLKKEAALIDTLLQKLSNLLGISWPQKTSSEQAATTAVGSDTEVLDELP
Sequence length 1732
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Taste transduction  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Prostate cancer Prostate carcinoma rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 25939597
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Coronary artery disease Coronary artery disease GWAS
Diabetes Diabetes GWAS
Myocardial Infarction Myocardial Infarction GWAS
Show/Hide Text Mining Associations (5)
Associations from Text Mining
Disease Name Relationship Type References
Colorectal Neoplasms Associate 34573430
Lung Neoplasms Associate 30894353
Neoplasms Associate 34573430
Polycystic Kidney Autosomal Dominant Associate 31488014
Polycystic Kidney Diseases Associate 19812697, 28154010