PKD1L3

protein-coding

polycystin 1 like 3, transient receptor potential channel interacting, the group of C-type lectin domain containing

Gene 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 function as a component of cation channel pores.[provided by RefSeq, Apr 2009]

MANE transcript

NM_181536.2

Inheritance

—

ClinVar variants

U:264B:32

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr16:71,929,538-72,000,402

External References & Databases

Ensembl (ENSG00000277481)

Transcript & Mutation Effects

hg38 • Region Span ~70.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to PKD1L3 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 284

not providedTotal: 12

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_181536.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous					1 clinvar	1
missense			260 clinvar	25 clinvar	1 clinvar	286
nonsense				1 clinvar		1
start loss						0
frameshift			1 clinvar	2 clinvar	2 clinvar	5
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	264	28	4	296

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 13 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_181536.2	RefSeq	NP_853514.1	30	MANE Select
ENST00000620267.2	Ensembl	ENSP00000480090.1	30	MANE Select
XM_017023201.2	RefSeq	XP_016878690.1	25	Standard
XM_017023202.2	RefSeq	XP_016878691.1	22	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Taste transduction - Homo sapiens (human)

Biological Process

detection of chemical stimulus involved in sensory perception of sour taste
kidney development
cation transport
sensory perception of sour taste
detection of mechanical stimulus

Molecular Function

cation channel activity
calcium channel activity
protein binding
cation transmembrane transporter activity
carbohydrate binding

Cellular Component

plasma membrane
cell surface
membrane
cation channel complex
receptor complex

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Component of a calcium channel. May act as a sour taste receptor by forming a calcium channel with PKD1L3 in gustatory cells; however, its contribution to sour taste perception is unclear in vivo and may be indirect. {ECO:0000269|PubMed:12782129, ECO:0000269|PubMed:19812697, ECO:0000269|PubMed:23212381}.;

Recessive Scores

pRec: 0.111

Essentials

Indispensability pred.: N
Indispensability score: 0.319