pkd1a

ID

ZDB-GENE-100707-1

Name

polycystic kidney disease 1a

Symbol

pkd1a Nomenclature History

Previous Names

pkd1 (1)

Type

protein_coding_gene

Location

Chr: 1 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to contribute to monoatomic cation channel activity. Acts upstream of or within several processes, including liver development; lymphangiogenesis; and regulation of collagen biosynthetic process. Predicted to be located in cilium; endomembrane system; and membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including head; neuromast; notochord; pectoral fin bud; and pronephros. Used to study autosomal dominant polycystic kidney disease and polycystic liver disease. Human ortholog(s) of this gene implicated in autosomal dominant polycystic kidney disease; intracranial aneurysm; and polycystic kidney disease 1. Orthologous to human PKD1 (polycystin 1, transient receptor potential channel interacting).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

10 figures from 4 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 12 figures from 4 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With pkd1a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
polycystic kidney disease 1	Alliance	Polycystic kidney disease 1	173900

Associated With pkd1a Via Experimental Models

Human Disease	Fish	Conditions	Citations
autosomal dominant polycystic kidney disease	pkd1a^{zf1067/zf1067}	standard conditions	Zhu et al., 2017
polycystic liver disease	WT + MO1-pkd1a	standard conditions	Tietz Bogert et al., 2013

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR000203	GPS motif
Domain	IPR000483	Cysteine-rich flanking region, C-terminal
Domain	IPR000601	PKD domain
Domain	IPR001024	PLAT/LH2 domain
Domain	IPR001304	C-type lectin-like
Domain	IPR002859	PKD/REJ-like domain
Domain	IPR002889	Carbohydrate-binding WSC
Domain	IPR006228	Polycystin cation channel
Domain	IPR013122	Polycystin cation channel, PKD1/PKD2
Domain	IPR014010	REJ domain
Domain	IPR022409	PKD/Chitinase domain
Domain	IPR046791	Polycystin domain
Family	IPR000434	Polycystic kidney disease type 1 protein
Homologous_superfamily	IPR013783	Immunoglobulin-like fold
Homologous_superfamily	IPR016186	C-type lectin-like/link domain superfamily
Homologous_superfamily	IPR016187	C-type lectin fold
Homologous_superfamily	IPR032675	Leucine-rich repeat domain superfamily
Homologous_superfamily	IPR035986	PKD domain superfamily
Homologous_superfamily	IPR036392	PLAT/LH2 domain superfamily
Repeat	IPR001611	Leucine-rich repeat
Repeat	IPR003591	Leucine-rich repeat, typical subtype