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

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: mouse all
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Genomic context

Location:: 7p12.3

Exon count:: 59

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (47774614..47960906, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (47937113..48116591, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (47814212..47988063, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PKD1L1 Is Involved in Congenital Chylothorax.
Title: PKD1L1 Is Involved in Congenital Chylothorax.
The authors report that the human PKD2-L1 selectivity filter is partially selective to calcium ions (Ca(2+)) moving into the cell, but blocked by high internal Ca(2+)concentrations, a unique feature of this transient receptor potential (TRP) channel family member.
Title: Atypical calcium regulation of the PKD2-L1 polycystin ion channel.
identification of bi-allelic PKD1L1 mutations recapitulates previous findings regarding phenotypic consequences of loss of function of the orthologous genes in mice and medaka fish and further expands our understanding of genetic contributions to laterality defects in humans
Title: Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

HSC212_(7Gr476mb) (e-PCR)
- UniSTS:255237

RH121834 (e-PCR)
- UniSTS:134983

D7S808 (e-PCR)
- UniSTS:148606

D7S1896 (e-PCR)
- UniSTS:35202

GDB:1318188 (e-PCR)
- UniSTS:22197

GDB:1318575 (e-PCR)
- UniSTS:59602

SHGC-148821 (e-PCR)
- UniSTS:184535

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
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
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	IDA Inferred from Direct Assay more info	PubMed
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
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

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Preferred Names: polycystin-1-like protein 1

Names: PC1-like 1 protein; polycystic kidney disease 1 like 1; polycystic kidney disease protein 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

NG_052801.1 RefSeqGene

Range

15157..189009

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_138295.5 → NP_612152.1 polycystin-1-like protein 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

UniProtKB/TrEMBL

A0A8I5KWV8

Related

ENSP00000289672.2, ENST00000289672.7

Conserved Domains (3) summary

cd01752
Location:1796 → 1914

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:597 → 663

PKD; PKD domain

pfam08016
Location:2336 → 2656

PKD_channel; Polycystin cation channel