GMPPB GDP-mannose pyrophosphorylase B [Homo sapiens (human)] - Gene

Summary

Official Symbol: GMPPBprovided by HGNC
Official Full Name: GDP-mannose pyrophosphorylase Bprovided by HGNC
Primary source: HGNC:HGNC:22932
See related: Ensembl:ENSG00000173540 MIM:615320; AllianceGenome:HGNC:22932
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LGMDR19; MDDGA14; MDDGB14; MDDGC14
Summary: This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2009]
Expression: Ubiquitous expression in thyroid (RPKM 16.4), prostate (RPKM 14.9) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 3p21.31

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (49719916..49723951, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (49749202..49753237, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (49757349..49761384, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Silencing GMPPB Inhibits the Proliferation and Invasion of GBM via Hippo/MMP3 Pathways.
Title: Silencing GMPPB Inhibits the Proliferation and Invasion of GBM via Hippo/MMP3 Pathways.
A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.
Title: A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.
Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation.
Title: Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation.
Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review.
Title: Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review.
Data demonstrates that a change in beta-dystroglycan electrophoretic mobility in patients with muscular dystrophy is a distinctive marker of the molecular defect in GMPPB.
Title: Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
Title: Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
Study finds that the GMPPB mutation spectrum in Chinese patients may differ from that of European populations, with the mutation p.(Arg357His) most frequently found. These mutations may lead to abnormal folding of GMPPB leading to protein aggregates in the cytoplasm rather than an overall loss in protein expression.
Title: Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.
Patients with GMPPB-CMS have phenotypic features aligned with CMS subtypes harbouring mutations within the early stages of the glycosylation pathway. Additional features shared with the dystroglycanopathies include myopathic features, raised Creatine Kinase levels and variable mild cognitive delay.
Title: Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
We observe that c.79G>C (p.D27H) is associated with a mild limb-girdle muscular dystrophy phenotype, whereas c.860G>A (p.R287Q) is associated with a relatively severe congenital muscular dystrophy typically involving brain development.
Title: GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
This study found mutations in GMPPB can lead to a wide spectrum of clinical features where deficit in neuromuscular transmission is the major component in a subset of cases.
Title: Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive limb-girdle muscular dystrophy type 2T MedGen: C4518000 OMIM: 615352 GeneReviews: Not available	Compare labs
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MedGen: C3809216 OMIM: 615350 GeneReviews: Not available	Compare labs
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MedGen: C3809221 OMIM: 615351 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH91732 (e-PCR)
- UniSTS:83732

G54105 (e-PCR)
- UniSTS:109342

WI-18664 (e-PCR)
- UniSTS:32570

A005X28 (e-PCR)
- UniSTS:22331

D3S2901E (e-PCR)
- UniSTS:150889

RH47478 (e-PCR)
- UniSTS:67693

RH78461 (e-PCR)
- UniSTS:19364

RH78233 (e-PCR)
- UniSTS:25527

RH15941 (e-PCR)
- UniSTS:89021

A004P45 (e-PCR)
- UniSTS:64468

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables mannose-1-phosphate guanylyltransferase (GTP) activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in GDP-mannose biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in GDP-mannose biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in GDP-mannose biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein glycosylation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: mannose-1-phosphate guanyltransferase beta

Names: GTP-mannose-1-phosphate guanylyltransferase beta

NP_037466.3

EC 2.7.7.13

NP_068806.2

EC 2.7.7.13

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_033731.2 RefSeqGene

Range

5024..9059

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_013334.4 → NP_037466.3 mannose-1-phosphate guanyltransferase beta isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC099668

Consensus CDS

CCDS2802.1

UniProtKB/TrEMBL

A0A7I2YQI5

Related

ENSP00000309092.6, ENST00000308375.10

Conserved Domains (2) summary

cd06425
Location:1 → 233

M1P_guanylylT_B_like_N; N-terminal domain of the M1P-guanylyltransferase B-isoform like proteins

cl00160
Location:255 → 361

LbetaH; Left-handed parallel beta-Helix (LbetaH or LbH) domain: The alignment contains 5 turns, each containing three imperfect tandem repeats of a hexapeptide repeat motif (X-[STAV]-X-[LIV]-[GAED]-X). Proteins containing hexapeptide repeats are often enzymes ...
NM_021971.4 → NP_068806.2 mannose-1-phosphate guanyltransferase beta isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks a portion of an exon in the 3' coding region compared to variant 1. The encoded isoform (2) lacks an in-frame internal segment and is shorter than isoform 1.

Source sequence(s)

AC099668

Consensus CDS

CCDS2803.1

UniProtKB/Swiss-Prot

A8K6N5, Q9H7U3, Q9Y5P6

UniProtKB/TrEMBL

A0A7I2YQI5

Related

ENSP00000311130.6, ENST00000308388.7

Conserved Domains (2) summary

cd06425
Location:1 → 233

M1P_guanylylT_B_like_N; N-terminal domain of the M1P-guanylyltransferase B-isoform like proteins

cl00160
Location:255 → 334

LbetaH; Left-handed parallel beta-Helix (LbetaH or LbH) domain: The alignment contains 5 turns, each containing three imperfect tandem repeats of a hexapeptide repeat motif (X-[STAV]-X-[LIV]-[GAED]-X). Proteins containing hexapeptide repeats are often enzymes ...