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PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting [ Homo sapiens (human) ]

Gene ID: 168507, updated on 5-Aug-2022

Summary

Official Symbol
PKD1L1provided by HGNC
Official Full Name
polycystin 1 like 1, transient receptor potential channel interactingprovided by HGNC
Primary source
HGNC:HGNC:18053
See related
Ensembl:ENSG00000158683 MIM:609721; AllianceGenome:HGNC:18053
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HTX8; PRO19563
Summary
This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See PKD1L1 in Genome Data Viewer
Location:
7p12.3
Exon count:
59
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (47774614..47960906, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (47937124..48110677, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (47814212..47988063, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 6862 Neighboring gene long intergenic non-protein coding RNA 525 Neighboring gene Sharpr-MPRA regulatory region 14324 Neighboring gene PKD1L1 antisense RNA 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:47980802-47982001 Neighboring gene Sharpr-MPRA regulatory region 5513 Neighboring gene uncharacterized LOC105375270 Neighboring gene HUS1 checkpoint clamp component Neighboring gene Sad1 and UNC84 domain containing 3

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

Phenotypes

Associated conditions

Description Tests
Heterotaxy, visceral, 8, autosomal
MedGen: C4310668 OMIM: 617205 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide and gene-based association studies of anxiety disorders in European and african american samples.
EBI GWAS Catalog
Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection.
EBI GWAS Catalog

Pathways from PubChem

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 calcium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in cell-cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
involved_in detection of mechanical stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in detection of nodal flow ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in left/right axis specification ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
part_of calcium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary membrane IEA
Inferred from Electronic Annotation
more info
 
located_in cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in membrane TAS
Traceable Author Statement
more info
PubMed 
located_in non-motile cilium IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
polycystic kidney disease protein 1-like 1
Names
PC1-like 1 protein
polycystic kidney disease 1 like 1
polycystin-1L1

NCBI Reference Sequences (RefSeq)

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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_052801.1 RefSeqGene

    Range
    15157..189009
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_138295.5NP_612152.1  polycystic kidney disease protein 1-like 1

    See identical proteins and their annotated locations for NP_612152.1

    Status: REVIEWED

    Source sequence(s)
    AB061683, AC019066, AI860869, CT004668
    Consensus CDS
    CCDS34633.1
    UniProtKB/Swiss-Prot
    Q6UWK1, Q8TDX9
    Related
    ENSP00000289672.2, ENST00000289672.7
    Conserved Domains (3) summary
    cd01752
    Location:17961914
    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 ...
    pfam00801
    Location:597663
    PKD; PKD domain
    pfam08016
    Location:23362656
    PKD_channel; Polycystin cation channel

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    47774614..47960906 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011798.3XP_016867287.1  polycystic kidney disease protein 1-like 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    47937124..48110677 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)