Gene

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

Description

Involved in animal organ development; lymphangiogenesis; and regulation of collagen biosynthetic process. Predicted to localize to integral component of membrane. 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. Is expressed in several structures, including head; neuromast; notochord; pectoral fin bud; and pronephros. 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

Domain Details Per Protein

Protein	Length	Carbohydrate-binding WSC	C-type lectin fold	C-type lectin-like	C-type lectin-like/link domain superfamily	Cysteine-rich flanking region, C-terminal	GPS motif	Immunoglobulin-like fold	Leucine-rich repeat	Leucine-rich repeat domain superfamily	Leucine-rich repeat, typical subtype	PKD/Chitinase domain	PKD domain	PKD domain superfamily	PKD/REJ-like domain	PLAT/LH2 domain	PLAT/LH2 domain superfamily	Polycystic kidney disease type 1 protein	Polycystin cation channel	Polycystin cation channel, PKD1/PKD2	Polycystin domain	REJ domain
UniProtKB:F1QIA9 InterPro	4281
UniProtKB:A0A8M9QBN4 InterPro	4625

Transcripts

Genome Browsers

NCBI

No data available

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance

Citations