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] See more...

Aliases for GMPPA Gene

Aliases for GMPPA Gene

  • GDP-Mannose Pyrophosphorylase A 2 3 4 5
  • GTP-Mannose-1-Phosphate Guanylyltransferase Alpha 3 4
  • Mannose-1-Phosphate Guanyltransferase Alpha 3 4
  • GMPP-Alpha 3 4
  • Mannose-1-Phosphate Guanylyltransferase (GDP) 3
  • Epididymis Secretory Sperm Binding Protein 3
  • EC 2.7.7.13 50
  • EC 2.7.7 50
  • GMPPA 5
  • AAMR 3

External Ids for GMPPA Gene

Previous GeneCards Identifiers for GMPPA Gene

  • GC02P218386
  • GC02P219084
  • GC02P220327
  • GC02P220566
  • GC02P220189
  • GC02P220071
  • GC02P212216
  • GC02P220364

Summaries for GMPPA Gene

Entrez Gene Summary for GMPPA 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]

GeneCards Summary for GMPPA Gene

GMPPA (GDP-Mannose Pyrophosphorylase A) is a Protein Coding gene. Diseases associated with GMPPA include Alacrima, Achalasia, And Mental Retardation Syndrome and Achalasia-Addisonianism-Alacrima Syndrome. Among its related pathways are Fructose and mannose metabolism and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include nucleotidyltransferase activity. An important paralog of this gene is GMPPB.

UniProtKB/Swiss-Prot Summary for GMPPA Gene

  • May serve as a regulatory subunit and allow allosteric feedback inhibition of GMPPB by GDP-mannose.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GMPPA Gene

Genomics for GMPPA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GMPPA Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GMPPA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GMPPA

Top Transcription factor binding sites by QIAGEN in the GMPPA gene promoter:
  • E47
  • Hand1
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • POU2F2C
  • Zic3

Genomic Locations for GMPPA Gene

Latest Assembly
chr2:219,498,884-219,506,989
(GRCh38/hg38)
Size:
8,106 bases
Orientation:
Plus strand

Previous Assembly
chr2:220,363,613-220,371,711
(GRCh37/hg19 by Entrez Gene)
Size:
8,099 bases
Orientation:
Plus strand

chr2:220,363,589-220,371,710
(GRCh37/hg19 by Ensembl)
Size:
8,122 bases
Orientation:
Plus strand

Genomic View for GMPPA Gene

Genes around GMPPA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GMPPA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GMPPA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GMPPA Gene

Proteins for GMPPA Gene

  • Protein details for GMPPA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96IJ6-GMPPA_HUMAN
    Recommended name:
    Mannose-1-phosphate guanyltransferase alpha
    Protein Accession:
    Q96IJ6
    Secondary Accessions:
    • A6NJ74
    • A8K3Q6
    • B3KMT4
    • Q53GI0
    • Q9NWC3
    • Q9Y5P5

    Protein attributes for GMPPA Gene

    Size:
    420 amino acids
    Molecular mass:
    46291 Da
    Quaternary structure:
    • Associates with GMPPB.
    SequenceCaution:
    • Sequence=AAD38517.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for GMPPA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GMPPA Gene

Selected DME Specific Peptides for GMPPA Gene

Q96IJ6:
  • SDIINCGIYLF
  • LIGFYQP
  • VEKPSTF
  • YASRLYL
  • EVLHYVEKP
  • LGTTANR
  • RESIVLHGA
  • RNQQDGQ
  • QSLNYGCIV
  • WSQIKSAGSA
  • ILNSIVLPHKELSRSF
  • VYIHPTA
  • ILIGGPQKGTRFRPLSFEVPKPLFPVAGVPM
  • GGLYHFRD

Post-translational modifications for GMPPA Gene

  • Ubiquitination at Lys294, Lys309, and Lys408
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for GMPPA

Domains & Families for GMPPA Gene

Gene Families for GMPPA Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for GMPPA Gene

Suggested Antigen Peptide Sequences for GMPPA Gene

GenScript: Design optimal peptide antigens:
  • GTP-mannose-1-phosphate guanylyltransferase alpha (GMPPA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96IJ6

UniProtKB/Swiss-Prot:

GMPPA_HUMAN :
  • Belongs to the transferase hexapeptide repeat family.
Family:
  • Belongs to the transferase hexapeptide repeat family.
genes like me logo Genes that share domains with GMPPA: view

Function for GMPPA Gene

Molecular function for GMPPA Gene

UniProtKB/Swiss-Prot Function:
May serve as a regulatory subunit and allow allosteric feedback inhibition of GMPPB by GDP-mannose.

Enzyme Numbers (IUBMB) for GMPPA Gene

Phenotypes From GWAS Catalog for GMPPA Gene

Gene Ontology (GO) - Molecular Function for GMPPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0016740 transferase activity IEA --
GO:0016779 nucleotidyltransferase activity IEA --
genes like me logo Genes that share ontologies with GMPPA: view
genes like me logo Genes that share phenotypes with GMPPA: view

Human Phenotype Ontology for GMPPA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

  • Taconic Biosciences Mouse Models for GMPPA

miRNA for GMPPA Gene

miRTarBase miRNAs that target GMPPA

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GMPPA

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for GMPPA Gene

Localization for GMPPA Gene

Subcellular locations from UniProtKB/Swiss-Prot for GMPPA Gene

Cytoplasm. Note=Myc-tagged GMPPA shows a diffuse cytoplasmic and nuclear pattern in transfected COS-7 cells.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GMPPA gene
Compartment Confidence
extracellular 4
nucleus 3
mitochondrion 2
cytosol 2
cytoskeleton 1
endoplasmic reticulum 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GMPPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with GMPPA: view

Pathways & Interactions for GMPPA Gene

genes like me logo Genes that share pathways with GMPPA: view

Gene Ontology (GO) - Biological Process for GMPPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009058 biosynthetic process IEA --
genes like me logo Genes that share ontologies with GMPPA: view

No data available for SIGNOR curated interactions for GMPPA Gene

Drugs & Compounds for GMPPA Gene

(4) Drugs for GMPPA Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-Mannose 1-phosphate Experimental Pharma 0
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Phosphate Experimental Pharma 0

(2) Additional Compounds for GMPPA Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Guanosine diphosphate mannose
  • GDP-D-Mannose
  • GDPmannose
  • Guanosine 5'-(trihydrogen diphosphate), mono-alpha-D-mannopyranosyl ester
  • Guanosine diphosphomannose
  • Guanosine pyrophosphate mannose
3123-67-9
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
genes like me logo Genes that share compounds with GMPPA: view

Transcripts for GMPPA Gene

mRNA/cDNA for GMPPA Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GMPPA

Alternative Splicing Database (ASD) splice patterns (SP) for GMPPA Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^
SP1: - - - - - -
SP2: - - - -
SP3: - - - - -
SP4: - - - -
SP5: - - - - - -
SP6: - - - - - - - -
SP7: - - -
SP8: - - - - - - -
SP9: - - -
SP10:
SP11:
SP12: - - -
SP13: - - - -
SP14: - - - - - - - -
SP15: - -
SP16: - -

ExUns: 14a · 14b ^ 15a · 15b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for GMPPA Gene

GeneLoc Exon Structure for
GMPPA

Expression for GMPPA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GMPPA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GMPPA Gene

This gene is overexpressed in Salivary gland (13.2) and Stomach (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GMPPA Gene



Protein tissue co-expression partners for GMPPA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GMPPA

SOURCE GeneReport for Unigene cluster for GMPPA Gene:

Hs.27059

mRNA Expression by UniProt/SwissProt for GMPPA Gene:

Q96IJ6-GMPPA_HUMAN
Tissue specificity: Expressed in fibroblasts (at protein level).

Evidence on tissue expression from TISSUES for GMPPA Gene

  • Kidney(4.2)
  • Nervous system(3.8)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GMPPA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • lacrimal apparatus
  • mouth
  • pharynx
  • skull
Thorax:
  • esophagus
  • heart
Abdomen:
  • adrenal gland
  • kidney
  • pancreas
  • stomach
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with GMPPA: view

Primer products for research

No data available for mRNA differential expression in normal tissues for GMPPA Gene

Orthologs for GMPPA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GMPPA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GMPPA 29 30
  • 100 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GMPPA 30
  • 93 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia GMPPA 29 30
  • 90.32 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GMPPA 29 30
  • 89.84 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gmppa 29 16 30
  • 88.65 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gmppa 29
  • 87.14 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia GMPPA 30
  • 46 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GMPPA 29 30
  • 72.4 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 74 (a)
OneToMany
-- 30
  • 73 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gmppa 29
  • 69.37 (n)
Str.8289 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.33872 29
Zebrafish
(Danio rerio)
Actinopterygii gmppab 30
  • 72 (a)
OneToMany
gmppaa 29 30
  • 66.83 (n)
OneToMany
zgc66135 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9147 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011723 29
  • 57.23 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG8207 29 30 31
  • 56.88 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea Y47D9A.1 29 30
  • 52.64 (n)
OneToOne
Y47D9A.1a 31
  • 46 (a)
Y47D9A.1b 31
  • 45 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PSA1 30
  • 35 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G04650 29
  • 49.29 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU05937 29
  • 54.41 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3816 30
  • 47 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC13G1.02 29
  • 46.88 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3467 29
Species where no ortholog for GMPPA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GMPPA Gene

ENSEMBL:
Gene Tree for GMPPA (if available)
TreeFam:
Gene Tree for GMPPA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GMPPA: view image
Alliance of Genome Resources:
Additional Orthologs for GMPPA

Paralogs for GMPPA Gene

Paralogs for GMPPA Gene

(1) SIMAP similar genes for GMPPA Gene using alignment to 4 proteins:

  • GMPPA_HUMAN
  • C9J255_HUMAN
  • C9JAH0_HUMAN
  • F8WD54_HUMAN
genes like me logo Genes that share paralogs with GMPPA: view

Variants for GMPPA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GMPPA Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
1007274 Uncertain Significance: Alacrima, achalasia, and mental retardation syndrome 219,505,501(+) G/A
NM_013335.4(GMPPA):c.799G>A (p.Asp267Asn)
MISSENSE
1024634 Uncertain Significance: Alacrima, achalasia, and mental retardation syndrome 219,506,410(+) A/G
NM_013335.4(GMPPA):c.1150A>G (p.Ile384Val)
MISSENSE
1027960 Pathogenic: Alacrima, achalasia, and mental retardation syndrome 219,506,703(+) C/T
NM_013335.4(GMPPA):c.1168C>T (p.Arg390Ter)
NONSENSE
1043141 Uncertain Significance: Alacrima, achalasia, and mental retardation syndrome 219,502,418(+) G/A
NM_013335.4(GMPPA):c.466G>A (p.Val156Ile)
MISSENSE
851891 Uncertain Significance: Alacrima, achalasia, and mental retardation syndrome 219,502,391(+) A/G
NM_013335.4(GMPPA):c.439A>G (p.Thr147Ala)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GMPPA Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GMPPA Gene

Variant ID Type Subtype PubMed ID
nsv514984 CNV gain 21397061
nsv520958 CNV loss 19592680
nsv584502 CNV gain 21841781
nsv834545 CNV loss 17160897

Variation tolerance for GMPPA Gene

Residual Variation Intolerance Score: 67.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.45; 28.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GMPPA Gene

Human Gene Mutation Database (HGMD)
GMPPA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GMPPA
Leiden Open Variation Database (LOVD)
GMPPA

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GMPPA Gene

Disorders for GMPPA Gene

MalaCards: The human disease database

(8) MalaCards diseases for GMPPA Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search GMPPA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GMPPA_HUMAN
  • Alacrima, achalasia, and mental retardation syndrome (AAMR) [MIM:615510]: An autosomal recessive disorder characterized by onset of alacrima, achalasia, and mental retardation at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome, but patients with AAMR do not have adrenal insufficiency. {ECO:0000269 PubMed:24035193}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for GMPPA

genes like me logo Genes that share disorders with GMPPA: view

No data available for Genatlas for GMPPA Gene

Publications for GMPPA Gene

  1. Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. (PMID: 24035193) Koehler K … Hübner CA (American journal of human genetics 2013) 3 4 72
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. Unbiased Profiling of the Human Proinsulin Biosynthetic Interaction Network Reveals a Role for Peroxiredoxin 4 in Proinsulin Folding. (PMID: 32457219) Tran DT … Itkin-Ansari P (Diabetes 2020) 3
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3

Products for GMPPA Gene

Sources for GMPPA Gene