Gene

pcyt1aa

ID

ZDB-GENE-050417-108

Name

phosphate cytidylyltransferase 1A, choline a

Symbol

pcyt1aa Nomenclature History

Previous Names

zgc:110237 (1)

Type

protein_coding_gene

Location

Chr: 2 Mapping Details/Browsers

Description

Predicted to enable choline-phosphate cytidylyltransferase activity and phosphatidylcholine binding activity. Predicted to act upstream of or within CDP-choline pathway. Predicted to be active in endoplasmic reticulum. Is expressed in swim bladder. Human ortholog(s) of this gene implicated in congenital generalized lipodystrophy and spondylometaphyseal dysplasia with cone-rod dystrophy. Orthologous to human PCYT1A (phosphate cytidylyltransferase 1A, choline).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

2 figures from 2 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7159840 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With pcyt1aa Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
spondylometaphyseal dysplasia with cone-rod dystrophy	Alliance	Spondylometaphyseal dysplasia with cone-rod dystrophy	608940
		Lipodystrophy, congenital generalized, type 5	620680

Associated With pcyt1aa Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR004821	Cytidyltransferase-like domain
Domain	IPR041723	CTP:phosphocholine cytidylyltransferase domain
Family	IPR045049	Choline-phosphate cytidylyltransferase Pcy1-like
Homologous_superfamily	IPR014729	Rossmann-like alpha/beta/alpha sandwich fold