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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
Acts upstream of or within several processes, including liver development; lymphangiogenesis; and regulation of collagen biosynthetic process. Predicted to be located in cilium and membrane. Predicted to be integral component of 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
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
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain 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
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 REJ domain
UniProtKB:F1QIA9 4281
UniProtKB:A0A3G1GT95 4608
Transcripts
Genome Browsers
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