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Aliases for GMPPA Gene

Aliases for GMPPA Gene

  • GDP-Mannose Pyrophosphorylase A 2 3 4 5
  • GTP-Mannose-1-Phosphate Guanylyltransferase Alpha 3 4
  • GMPP-Alpha 3 4
  • Mannose-1-Phosphate Guanylyltransferase (GDP) 3
  • Mannose-1-Phosphate Guanyltransferase Alpha 3
  • EC 2.7.7.13 56
  • EC 2.7.7 56
  • 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. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include nucleotidyltransferase activity. An important paralog of this gene is GMPPB.

UniProtKB/Swiss-Prot for GMPPA Gene

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

Additional gene information for GMPPA Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GMPPA Gene

Genomics for GMPPA Gene

GeneHancer (GH) Regulatory Elements for GMPPA Gene

Promoters and enhancers for GMPPA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I219495 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.8 -839 5 HDGF PKNOX1 SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ENSG00000268603 GC02M219493 GMPPA ZNF142 STK36 RNF25 CNOT9 USP37 NHEJ1 STK11IP
GH02I218566 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.5 -929.5 -929547 4.7 CLOCK MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 CNOT9 USP37 NHEJ1 AAMP CNPPD1 SLC23A3 PLCD4 BCS1L GMPPA ANKZF1
GH02I219457 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 13.6 -39.0 -39018 4.5 ARID4B SIN3A ZNF2 RAD21 GLIS2 ZNF143 THAP11 EGR2 REST ZNF592 SPEG GMPPA ASIC4 ENSG00000227432 DES OBSL1 PTPRN LOC100996693
GH02I218710 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10 -787.7 -787653 2.4 HDGF PKNOX1 FOXA2 CLOCK MLX ARNT ARID4B SIN3A DMAP1 ZNF2 TTLL4 AAMP ANKZF1 CNOT9 NHEJ1 SLC23A3 USP37 STK36 ENSG00000272644 GMPPA
GH02I219386 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.8 -110.9 -110905 3.4 ARID4B SIN3A DMAP1 YY1 ZNF213 ZNF207 ZNF143 SP3 SP5 JUNB DNPEP LOC105373884 NHEJ1 ANKZF1 DES SLC23A3 GMPPA BCS1L CNOT9 USP37
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GMPPA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GMPPA gene promoter:

Genomic Locations for GMPPA Gene

Genomic Locations for GMPPA Gene
chr2:219,498,865-219,506,996
(GRCh38/hg38)
Size:
8,132 bases
Orientation:
Plus strand
chr2:220,363,587-220,371,718
(GRCh37/hg19)

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; Positions=355; 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 posLast=294294, posLast=309309, and isoforms=2408
  • Modification sites at PhosphoSitePlus

Domains & Families for GMPPA Gene

Gene Families for GMPPA Gene

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

Suggested Antigen Peptide Sequences for GMPPA Gene

GenScript: Design optimal peptide antigens:

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

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 Model Products

  • Taconic Biosciences Mouse Models for GMPPA

miRNA for GMPPA Gene

miRTarBase miRNAs that target GMPPA

Clone Products

No data available for Phenotypes From GWAS Catalog , 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 5
nucleus 3
mitochondrion 2
cytosol 2
peroxisome 1

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 IDA,HDA 23376485
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

(3) 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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Guanosine diphosphate mannose
  • GDP Mannose
  • GDP-D-Mannose
  • GDP-Glucose
  • GDP-Mannose
  • Guanosine Diphosphate Mannose
3123-67-9
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with GMPPA: view

Transcripts for GMPPA Gene

Unigene Clusters for GMPPA Gene

GDP-mannose pyrophosphorylase A:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
GMPPA

Expression for GMPPA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for GMPPA Gene



Protein tissue co-expression partners for GMPPA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GMPPA Gene:

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(3.6)
  • 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

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 33 34
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia GMPPA 34
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GMPPA 33 34
  • 90.32 (n)
dog
(Canis familiaris)
Mammalia GMPPA 33 34
  • 89.84 (n)
mouse
(Mus musculus)
Mammalia Gmppa 33 16 34
  • 88.65 (n)
rat
(Rattus norvegicus)
Mammalia Gmppa 33
  • 87.14 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GMPPA 34
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves GMPPA 33 34
  • 72.4 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 74 (a)
OneToMany
-- 34
  • 73 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia gmppa 33
  • 69.37 (n)
Str.8289 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.33872 33
zebrafish
(Danio rerio)
Actinopterygii gmppab 34
  • 72 (a)
OneToMany
gmppaa 33 34
  • 66.83 (n)
zgc66135 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9147 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011723 33
  • 57.23 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8207 35 33 34
  • 56.88 (n)
worm
(Caenorhabditis elegans)
Secernentea Y47D9A.1 33 34
  • 52.64 (n)
Y47D9A.1a 35
  • 46 (a)
Y47D9A.1b 35
  • 45 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PSA1 34
  • 35 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G04650 33
  • 49.29 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU05937 33
  • 54.41 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3816 34
  • 47 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC13G1.02 33
  • 46.88 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3467 33
Species where no ortholog for GMPPA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for GMPPA Gene

Paralogs for GMPPA Gene

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

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

Variants for GMPPA Gene

Sequence variations from dbSNP and Humsavar for GMPPA Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs397518460 pathogenic, Alacrima, achalasia, and mental retardation syndrome 219,501,903(+) C/T coding_sequence_variant, intron_variant, non_coding_transcript_variant, stop_gained
rs397518461 pathogenic, Alacrima, achalasia, and mental retardation syndrome, Alacrima, achalasia, and mental retardation syndrome (AAMR) [MIM:615510] 219,506,260(+) A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs397518462 pathogenic, Alacrima, achalasia, and mental retardation syndrome, Alacrima, achalasia, and mental retardation syndrome (AAMR) [MIM:615510] 219,504,138(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs773715630 uncertain-significance, Alacrima, achalasia, and mental retardation syndrome 219,504,185(+) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs774778439 Alacrima, achalasia, and mental retardation syndrome (AAMR) [MIM:615510] 219,506,261(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GMPPA Gene

MalaCards: The human disease database

(3) MalaCards diseases for GMPPA Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
alacrima, achalasia, and mental retardation syndrome
  • aamr
achalasia
  • achalasia of cardia
anisocoria
- 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 mutations 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 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction. (PMID: 28574218) Gold WA … Adès LC (American journal of medical genetics. Part A 2017) 3 58
  5. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X … Vidal M (Cell 2016) 3 58

Products for GMPPA Gene

Sources for GMPPA Gene

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