Gene

pgm3

ID

ZDB-GENE-041024-13

Name

phosphoglucomutase 3

Symbol

pgm3 Nomenclature History

Previous Names

fc08c11
fc39c03
wu:fc08c11
wu:fc39c03
zgc:91932

Type

protein_coding_gene

Location

Chr: 4 Mapping Details/Browsers

Description

Predicted to have phosphoacetylglucosamine mutase activity. Predicted to be involved in UDP-N-acetylglucosamine biosynthetic process. Human ortholog(s) of this gene implicated in primary immunodeficiency disease and teratoma. Is expressed in blood; intermediate cell mass of mesoderm; and notochord. Orthologous to human PGM3 (phosphoglucomutase 3).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

12 figures from Thisse et al., 2004

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

IMAGE:7152225 (10 images)
IMAGE:7158652 (6 images)

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 pgm3 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
immunodeficiency 23	Alliance	Immunodeficiency 23	615816

Associated With pgm3 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR016066	Alpha-D-phosphohexomutase, conserved site
Domain	IPR005843	Alpha-D-phosphohexomutase, C-terminal
Domain	IPR005844	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I
Domain	IPR049022	Phosphoacetylglucosamine mutase AMG1, domain III
Domain	IPR049023	Phosphoacetylglucosamine mutase AMG1, domain II
Family	IPR016657	Phosphoacetylglucosamine mutase
Homologous_superfamily	IPR016055	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III
Homologous_superfamily	IPR036900	Alpha-D-phosphohexomutase, C-terminal domain superfamily