ZFIN Gene: gmppb

ZFIN ID: ZDB-GENE-040801-234

ZFIN ID: ZDB-GENE-040801-234

Gene Name:

GDP-mannose pyrophosphorylase B

Gene Symbol:

gmppb Nomenclature History

Previous Names:

cb1066 (1), fc79b10, wu:fc79b10, zgc:92026

Gene 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:

Alliance (1), Gene:445097 (1), Ensembl(GRCz11):ENSDARG00000017658 (2)

GENE EXPRESSION
All Expression Data:	9 figures from 3 publications
Directly Submitted Expression Data:	5 figures (8 images) from Thisse et al., 2001 [cb1066]
Wild-type Stages, Structures:	Cleavage:2-cell (0.75h-1.0h) to Larval:Protruding-mouth (72.0h-96.0h, 3.5mm)
	epidermis hatching gland lateral line system notochord pectoral fin musculature periderm polster whole organism
Curated Microarray Expression:	GEO (1)

MUTATIONS AND SEQUENCE TARGETING REAGENTS

Sequence Targeting Reagents

Targeting Reagent	Created Alleles	Publications
MO1-gmppb	N/A	1

PHENOTYPE

Data:	4 figures from Carss et al., 2013
Observed in:	eye muscle sarcolemma myoseptum post-vent region protein glycosylation skeletal muscle cell whole organism

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

DISEASE ASSOCIATED WITH gmppb VIA EXPERIMENTAL MODELS No data available

GENE ONTOLOGY

Ontology	GO Term
Biological Process	muscle fiber development (more)
Cellular Component	cellular_component (more)
Molecular Function	GTP binding (more)

GO Terms (all 10)

PROTEIN FAMILIES, DOMAINS AND SITES
InterPro:IPR001451 (1) InterPro:IPR005835 (1) InterPro:IPR011004 (1) InterPro:IPR018357 (1) InterPro:IPR029044 (1)	PROSITE:PS00101 (1)	Pfam:PF00132 (1) Pfam:PF00483 (1)	EC:2.7.7.13 (1)

TRANSCRIPTS
Type	Name	Length (nt)	Analysis
mRNA	gmppb-201 (1)	1873	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	gmppb-002 (1)	780	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Browsers: UCSC, NCBI, Ensembl, ZFIN

INTERACTIONS AND PATHWAYS

ANTIBODIES No data available

PLASMIDS No data available

CONSTRUCTS WITH SEQUENCES FROM gmppb No data available

MARKER RELATIONSHIPS

gmppb Contained in:	[Fosmid] CH1073-91K2 (1) (order this)
gmppb Contains:	[SSLP] z4682
gmppb Encodes:	[EST] cb1066 (1) (order this), fc79b10 [cDNA] MGC:92026 (1) (order this)

SEQUENCE INFORMATION

Type	Accession #	Length (bp/aa)	Analysis
RNA	RefSeq:NM_001003491 (1)	1870 bp	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
Genomic	GenBank:FP102519 (1)	37082 bp	Select Tool MegaBLAST Ensembl
Polypeptide	UniProtKB:F1R683 (1)	360 aa	Select Tool ZFIN BLAST SIB BLAST Ensembl Protein Blast
Sequence Clusters	UniGene:105356 (1)

Sequence Information (all 28)

ORTHOLOGY for gmppb ( Chr: 22 )

CITATIONS (24)

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