Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	342372
Gene name	Polycystin 1 like 3, transient receptor potential channel interacting
Gene symbol	PKD1L3
Synonyms (NCBI Gene)	-
Chromosome	16
Chromosome location	16q22.2
Summary	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

Show/Hide all (33)

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:0005227	Function	Calcium-activated cation channel activity	ISS
GO:0005261	Function	Monoatomic cation channel activity	ISS
GO:0005262	Function	Calcium channel activity	IBA
GO:0005262	Function	Calcium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	23212381
GO:0005886	Component	Plasma membrane	IDA	23212381
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	ISS
GO:0006816	Process	Calcium ion transport	IEA
GO:0008324	Function	Monoatomic cation transmembrane transporter activity	ISS
GO:0009986	Component	Cell surface	ISS
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0033040	Function	Sour taste receptor activity	ISS
GO:0033040	Function	Sour taste receptor activity	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034703	Component	Cation channel complex	ISS
GO:0043235	Component	Receptor complex	ISS
GO:0050915	Process	Sensory perception of sour taste	IEA
GO:0050915	Process	Sensory perception of sour taste	IMP	19812697
GO:0050982	Process	Detection of mechanical stimulus	IBA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070588	Process	Calcium ion transmembrane transport	IDA	19464260
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0071468	Process	Cellular response to acidic pH	ISS
GO:0071468	Process	Cellular response to acidic pH	ISS
GO:0098655	Process	Monoatomic cation transmembrane transport	IDA	23212381
GO:0160128	Function	PH-gated monoatomic ion channel activity	IDA	19464260, 22420714, 23212381
GO:0160128	Function	PH-gated monoatomic ion channel activity	IEA

MIM	HGNC	e!Ensembl
607895	21716	ENSG00000277481

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

	KEGG
	Taste transduction

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential tremor	Benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GALLBLADDER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Colorectal Neoplasms	Associate	34573430	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	30894353	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	34573430	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Associate	31488014	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Associate	19812697, 28154010	★★★★★ ★☆☆☆☆ Found in Text Mining only

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