GMPPA

Protein identityUniProt · HPA

UniProt accession

Q96IJ6

Gene

GMPPA

Ensembl

ENSG00000144591

Chromosome

2

Canonical length

420 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm

OverviewNCBI Gene

This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

420 residues, UniProt reviewed canonical sequence.

>Q96IJ6|GMPPA
     1  MLKAVILIGG PQKGTRFRPL SFEVPKPLFP VAGVPMIQHH IEACAQVPGM QEILLIGFYQ
    61  PDEPLTQFLE AAQQEFNLPV RYLQEFAPLG TGGGLYHFRD QILAGSPEAF FVLNADVCSD
   121  FPLSAMLEAH RRQRHPFLLL GTTANRTQSL NYGCIVENPQ THEVLHYVEK PSTFISDIIN
   181  CGIYLFSPEA LKPLRDVFQR NQQDGQLEDS PGLWPGAGTI RLEQDVFSAL AGQGQIYVHL
   241  TDGIWSQIKS AGSALYASRL YLSRYQDTHP ERLAKHTPGG PWIRGNVYIH PTAKVAPSAV
   301  LGPNVSIGKG VTVGEGVRLR ESIVLHGATL QEHTCVLHSI VGWGSTVGRW ARVEGTPSDP
   361  NPNDPRARMD SESLFKDGKL LPAITILGCR VRIPAEVLIL NSIVLPHKEL SRSFTNQIIL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GMPPA 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)

0.23

Highest tissue expression

54 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GMPPA.

Disease | AllUniProt

Conditions GMPPA is implicated in, by any mechanism.

• Alacrima, achalasia, and impaired intellectual development syndrome (AAMR) MIM:615510

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 196 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Alacrima, achalasia, and intellectual disability syndrome
• GMPPA-related disorder
• Chromosomal instability with tissue-specific radiosensitivity
• Inborn genetic diseases

Disease | ImmuneIEDB

Conditions an epitope on GMPPA was assayed in.

• narcolepsy B cell
• multiple sclerosis B cell
• peripheral nervous system disease B cell

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)

0.94

gnomAD pLI

0

gnomAD missense Z

1.21

DepMap mean gene effect

0.16

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cognition
• GDP-mannose biosynthetic process
• GDP-mannose metabolic process
• glycoprotein metabolic process
• motor behavior
• muscle organ morphogenesis
• negative regulation of biosynthetic process
• negative regulation of small molecule metabolic process
• neuromuscular process
• neuron apoptotic process
• skeletal muscle organ development
• telencephalon development
• negative regulation of nucleobase-containing compound metabolic process
• negative regulation of phosphate metabolic process

Molecular functions

• enzyme binding
• enzyme inhibitor activity
• molecular sensor activity
• transferase activity

Cellular components

• cytoplasm
• cytosol
• extracellular exosome
• 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

KeywordsUniProt

• Cytoplasm
• Intellectual disability

InteractionsUniProt · HPA

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

• GMPPB