Gene

gmppb

ID
ZDB-GENE-040801-234
Name
GDP-mannose pyrophosphorylase B
Symbol
gmppb Nomenclature History
Previous Names
  • cb1066 (1)
  • fc79b10
  • wu:fc79b10
  • zgc:92026
Type
protein_coding_gene
Location
Chr: 22 Mapping Details/Browsers
Description
Predicted to have GTP binding activity and mannose-1-phosphate guanylyltransferase activity. Involved in muscle fiber development and protein glycosylation. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2T; congenital muscular dystrophy-dystroglycanopathy A14; and muscular dystrophy-dystroglycanopathy. Is expressed in several structures, including epidermis; hatching gland; pectoral fin musculature; periderm; and polster. Orthologous to human GMPPB (GDP-mannose pyrophosphorylase B).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
9 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
4 figures from Carss et al., 2013
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With gmppb Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal recessive limb-girdle muscular dystrophy type 2T Alliance Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352
congenital muscular dystrophy-dystroglycanopathy A14 Alliance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350
muscular dystrophy-dystroglycanopathy Alliance Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351
Associated With gmppb Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR018357 Hexapeptide transferase, conserved site
Domain IPR005835 Nucleotidyl transferase domain
Homologous_superfamily IPR011004 Trimeric LpxA-like superfamily
Homologous_superfamily IPR029044 Nucleotide-diphospho-sugar transferases
Repeat IPR001451 Hexapeptide repeat
Domain Details Per Protein
Protein Length Hexapeptide repeat Hexapeptide transferase, conserved site Nucleotide-diphospho-sugar transferases Nucleotidyl transferase domain Trimeric LpxA-like superfamily
UniProtKB:Q6DBU5 360
UniProtKB:B7TWQ6 71
UniProtKB:F1R683 360
UniProtKB:A0A2R8Q7E6 351
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations