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PKD1L3 polycystin 1 like 3, transient receptor potential channel interacting [ Homo sapiens (human) ]

Gene ID: 342372, updated on 17-Sep-2022

Summary

Official Symbol
PKD1L3provided by HGNC
Official Full Name
polycystin 1 like 3, transient receptor potential channel interactingprovided by HGNC
Primary source
HGNC:HGNC:21716
See related
Ensembl:ENSG00000277481 MIM:607895; AllianceGenome:HGNC:21716
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression
Ubiquitous expression in gall bladder (RPKM 11.1), spleen (RPKM 10.8) and 25 other tissues See more
Orthologs
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Genomic context

See PKD1L3 in Genome Data Viewer
Location:
16q22.2
Exon count:
31
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (71929538..72000402, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (77746662..77818469, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (71963441..72034301, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ataxin 1 like Neighboring gene zinc finger protein 821 Neighboring gene IST1 factor associated with ESCRT-III Neighboring gene ribosomal protein L39 pseudogene 31 Neighboring gene ATP synthase F1 subunit alpha pseudogene 3 Neighboring gene dihydroorotate dehydrogenase (quinone)

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to cation channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
contributes_to cation transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
NOT enables sour taste receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
contributes_to sour taste receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in cation transport ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT involved_in cellular response to acidic pH ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to acidic pH ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT involved_in detection of chemical stimulus involved in sensory perception of sour taste ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in detection of chemical stimulus involved in sensory perception of sour taste ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in detection of mechanical stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in kidney development IEA
Inferred from Electronic Annotation
more info
 
involved_in sensory perception of sour taste IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
part_of cation channel complex ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with cell surface ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in extracellular exosome HDA PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
part_of receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
polycystic kidney disease protein 1-like 3
Names
PC1-like 3 protein
polycystic kidney disease 1-like 3
polycystin-1L3

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032958.1 RefSeqGene

    Range
    4577..75441
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_181536.2NP_853514.1  polycystic kidney disease protein 1-like 3 precursor

    See identical proteins and their annotated locations for NP_853514.1

    Status: VALIDATED

    Source sequence(s)
    AC009127, KF459693
    Consensus CDS
    CCDS73912.1
    UniProtKB/Swiss-Prot
    Q7Z443
    Related
    ENSP00000480090.1, ENST00000620267.2
    Conserved Domains (4) summary
    cd00037
    Location:33138
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    cd01752
    Location:743859
    PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
    pfam08016
    Location:14461678
    PKD_channel; Polycystin cation channel
    cl02559
    Location:633672
    GPS; GPCR proteolysis site, GPS, motif

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    71929538..72000402 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450254.2XP_024306022.1  polycystic kidney disease protein 1-like 3 isoform X1

    Conserved Domains (4) summary
    cd00037
    Location:33137
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    cd01752
    Location:742858
    PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
    cl02559
    Location:632671
    GPS; GPCR proteolysis site, GPS, motif
    cl27887
    Location:14451677
    PKD_channel; Polycystin cation channel
  2. XM_024450257.2XP_024306025.1  polycystic kidney disease protein 1-like 3 isoform X4

    Conserved Domains (4) summary
    cd00037
    Location:33138
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    PLN03223
    Location:14931645
    PLN03223; Polycystin cation channel protein; Provisional
    cd01752
    Location:681797
    PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
    cl02559
    Location:571610
    GPS; GPCR proteolysis site, GPS, motif
  3. XM_024450256.2XP_024306024.1  polycystic kidney disease protein 1-like 3 isoform X3

    Conserved Domains (4) summary
    cd00037
    Location:33138
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    cd01752
    Location:684800
    PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
    cl02559
    Location:574613
    GPS; GPCR proteolysis site, GPS, motif
    cl27887
    Location:13871619
    PKD_channel; Polycystin cation channel
  4. XM_024450255.2XP_024306023.1  polycystic kidney disease protein 1-like 3 isoform X2

    Conserved Domains (4) summary
    cd00037
    Location:33138
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    cd01752
    Location:743859
    PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
    cl02559
    Location:633672
    GPS; GPCR proteolysis site, GPS, motif
    cl27887
    Location:14401672
    PKD_channel; Polycystin cation channel
  5. XM_024450260.1XP_024306028.1  polycystic kidney disease protein 1-like 3 isoform X6

    Conserved Domains (3) summary
    cd01752
    Location:507623
    PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
    cl02559
    Location:397436
    GPS; GPCR proteolysis site, GPS, motif
    cl27887
    Location:12101442
    PKD_channel; Polycystin cation channel
  6. XM_024450258.1XP_024306026.1  polycystic kidney disease protein 1-like 3 isoform X5

    Conserved Domains (3) summary
    cd01752
    Location:559675
    PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
    cl02559
    Location:449488
    GPS; GPCR proteolysis site, GPS, motif
    cl27887
    Location:12621494
    PKD_channel; Polycystin cation channel
  7. XM_024450259.1XP_024306027.1  polycystic kidney disease protein 1-like 3 isoform X5

    Conserved Domains (3) summary
    cd01752
    Location:559675
    PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
    cl02559
    Location:449488
    GPS; GPCR proteolysis site, GPS, motif
    cl27887
    Location:12621494
    PKD_channel; Polycystin cation channel
  8. XM_017023201.2XP_016878690.1  polycystic kidney disease protein 1-like 3 isoform X7

  9. XM_017023202.2XP_016878691.1  polycystic kidney disease protein 1-like 3 isoform X8

  10. XM_017023203.2XP_016878692.1  polycystic kidney disease protein 1-like 3 isoform X9

  11. XM_017023204.2XP_016878693.1  polycystic kidney disease protein 1-like 3 isoform X10

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    77746662..77818469 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)