GMPPB

Protein identityUniProt · HPA

UniProt accession

Q9Y5P6

Gene

GMPPB

Ensembl

ENSG00000173540

Chromosome

3

Canonical length

360 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

360 residues, UniProt reviewed canonical sequence.

>Q9Y5P6|GMPPB
     1  MKALILVGGY GTRLRPLTLS TPKPLVDFCN KPILLHQVEA LAAAGVDHVI LAVSYMSQVL
    61  EKEMKAQEQR LGIRISMSHE EEPLGTAGPL ALARDLLSET ADPFFVLNSD VICDFPFQAM
   121  VQFHRHHGQE GSILVTKVEE PSKYGVVVCE ADTGRIHRFV EKPQVFVSNK INAGMYILSP
   181  AVLQRIQLQP TSIEKEVFPI MAKEGQLYAM ELQGFWMDIG QPKDFLTGMC LFLQSLRQKQ
   241  PERLCSGPGI VGNVLVDPSA RIGQNCSIGP NVSLGPGVVV EDGVCIRRCT VLRDARIRSH
   301  SWLESCIVGW RCRVGQWVRM ENVTVLGEDV IVNDELYLNG ASVLPHKSIG ESVPEPRIIM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GMPPB can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.22

Highest tissue expression

44 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GMPPB.

Disease | AllUniProt

Conditions GMPPB is implicated in, by any mechanism.

• Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14 (MDDGA14) MIM:615350
• Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B14 (MDDGB14) MIM:615351
• Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) MIM:615352

Disease | GeneticClinVar

61 pathogenic / likely-pathogenic of 452 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive limb-girdle muscular dystrophy type 2T
• Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
• Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
• GMPPB-related disorder
• Abnormality of the musculature

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.09

gnomAD pLI

0

gnomAD missense Z

1.02

DepMap mean gene effect

-0.88

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• GDP-mannose biosynthetic process
• GDP-mannose biosynthetic process from mannose
• GDP-mannose metabolic process

Molecular functions

• GTP binding
• metal ion binding
• mannose-1-phosphate guanylyltransferase (GTP) activity

Cellular components

• cytoplasm
• cytosol
• GDP-mannose pyrophosphorylase complex

Protein domainsUniProt · Pfam · InterPro

• Nucleotidyl transferase domain
• Hexapeptide transferase, conserved site
• Nucleotide-diphospho-sugar transferases
• Mannose-1-phosphate guanyltransferase
• Mannose-1-phosphate guanyltransferase, C-terminal domain
• Nucleotidyl transferase
• GMPPB C-terminal domain
• Mannose-1-phosphate guanyltransferase, N-terminal domain

KeywordsUniProt

• Congenital muscular dystrophy
• Cytoplasm
• Dystroglycanopathy
• GTP-binding
• Limb-girdle muscular dystrophy
• Magnesium
• Metal-binding
• Nucleotide-binding
• Nucleotidyltransferase
• Transferase

InteractionsUniProt · HPA

Protein binding partners of GMPPB in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• GMPPA