Human Gene GMPPA (ENST00000313597.10_5) from GENCODE V47lift37
  Description: GDP-mannose pyrophosphorylase A, transcript variant 1 (from RefSeq NM_013335.4)
Gencode Transcript: ENST00000313597.10_5
Gencode Gene: ENSG00000144591.20_10
Transcript (Including UTRs)
   Position: hg19 chr2:220,363,613-220,371,711 Size: 8,099 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr2:220,364,698-220,371,520 Size: 6,823 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:220,363,613-220,371,711)mRNA (may differ from genome)Protein (420 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GMPPA_HUMAN
DESCRIPTION: RecName: Full=Mannose-1-phosphate guanyltransferase alpha; EC=2.7.7.13; AltName: Full=GDP-mannose pyrophosphorylase A; AltName: Full=GTP-mannose-1-phosphate guanylyltransferase alpha;
CATALYTIC ACTIVITY: GTP + alpha-D-mannose 1-phosphate = diphosphate + GDP-mannose.
PATHWAY: Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; GDP-alpha-D-mannose from alpha-D-mannose 1-phosphate (GTP route): step 1/1.
SIMILARITY: Belongs to the transferase hexapeptide repeat family.
SEQUENCE CAUTION: Sequence=AAD38517.1; Type=Frameshift; Positions=355;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GMPPA
Diseases sorted by gene-association score: alacrima, achalasia, and mental retardation syndrome* (1330), achalasia (24)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 42.45 RPKM in Pituitary
Total median expression: 785.57 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -15.2068-0.224 Picture PostScript Text
3' UTR -69.10191-0.362 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001451 - Hexapep_transf
IPR018357 - Hexapep_transf_CS
IPR005835 - NTP_transferase

Pfam Domains:
PF00483 - Nucleotidyl transferase
PF12804 - MobA-like NTP transferase domain

SCOP Domains:
51161 - Trimeric LpxA-like enzymes
53448 - Nucleotide-diphospho-sugar transferases

ModBase Predicted Comparative 3D Structure on Q96IJ6
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0016779 nucleotidyltransferase activity

Biological Process:
GO:0009058 biosynthetic process

Cellular Component:
GO:0005737 cytoplasm
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  LF205256 - JP 2014500723-A/12759: Polycomb-Associated Non-Coding RNAs.
AK000999 - Homo sapiens cDNA FLJ10137 fis, clone HEMBA1003136, weakly similar to MANNOSE-1-PHOSPHATE GUANYLTRANSFERASE (EC 2.7.7.13).
AK290671 - Homo sapiens cDNA FLJ78735 complete cds, highly similar to Homo sapiens GDP-mannose pyrophosphorylase A (GMPPA), transcript variant 2, mRNA.
AK222951 - Homo sapiens mRNA for GDP-mannose pyrophosphorylase A variant, clone: HRC10067.
AK022578 - Homo sapiens cDNA FLJ12516 fis, clone NT2RM2001782, highly similar to Homo sapiens GDP-mannose pyrophosphorylase A (GMPPA), transcript variant 2, mRNA.
AK296193 - Homo sapiens cDNA FLJ56917 complete cds, moderately similar to Homo sapiens GDP-mannose pyrophosphorylase A (GMPPA), transcript variant 2, mRNA.
JD217613 - Sequence 198637 from Patent EP1572962.
BC007456 - Homo sapiens GDP-mannose pyrophosphorylase A, mRNA (cDNA clone MGC:995 IMAGE:2989461), complete cds.
GQ891444 - Homo sapiens clone HEL-S-165 epididymis secretory sperm binding protein mRNA, complete cds.
AB209592 - Homo sapiens mRNA for GDP-mannose pyrophosphorylase A variant protein.
AF135422 - Homo sapiens GDP-mannose pyrophosphorylase A (GMPPA) mRNA, complete cds.
DQ892873 - Synthetic construct clone IMAGE:100005503; FLH190488.01X; RZPDo839A1176D GDP-mannose pyrophosphorylase A (GMPPA) gene, encodes complete protein.
DQ896121 - Synthetic construct Homo sapiens clone IMAGE:100010581; FLH190484.01L; RZPDo839A1166D GDP-mannose pyrophosphorylase A (GMPPA) gene, encodes complete protein.
CU675667 - Synthetic construct Homo sapiens gateway clone IMAGE:100019321 5' read GMPPA mRNA.
KJ893713 - Synthetic construct Homo sapiens clone ccsbBroadEn_03107 GMPPA gene, encodes complete protein.
LF318657 - JP 2014500723-A/126160: Polycomb-Associated Non-Coding RNAs.
JD020681 - Sequence 1705 from Patent EP1572962.
JD029001 - Sequence 10025 from Patent EP1572962.
JD027853 - Sequence 8877 from Patent EP1572962.
LF318659 - JP 2014500723-A/126162: Polycomb-Associated Non-Coding RNAs.
JD446675 - Sequence 427699 from Patent EP1572962.
JD151700 - Sequence 132724 from Patent EP1572962.
JD444424 - Sequence 425448 from Patent EP1572962.
JD338104 - Sequence 319128 from Patent EP1572962.
JD090516 - Sequence 71540 from Patent EP1572962.
LF318660 - JP 2014500723-A/126163: Polycomb-Associated Non-Coding RNAs.
JD135098 - Sequence 116122 from Patent EP1572962.
MA440833 - JP 2018138019-A/12759: Polycomb-Associated Non-Coding RNAs.
MA554234 - JP 2018138019-A/126160: Polycomb-Associated Non-Coding RNAs.
MA554236 - JP 2018138019-A/126162: Polycomb-Associated Non-Coding RNAs.
MA554237 - JP 2018138019-A/126163: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-5659 - GDP-mannose biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q96IJ6 (Reactome details) participates in the following event(s):

R-HSA-446221 Mannose-1-phosphate converted to GDP-Mannose
R-HSA-446205 Synthesis of GDP-mannose
R-HSA-446219 Synthesis of substrates in N-glycan biosythesis
R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A6NJ74, A8K3Q6, B3KMT4, ENST00000313597.1, ENST00000313597.2, ENST00000313597.3, ENST00000313597.4, ENST00000313597.5, ENST00000313597.6, ENST00000313597.7, ENST00000313597.8, ENST00000313597.9, GMPPA_HUMAN, NM_013335, Q53GI0, Q96IJ6, Q9NWC3, Q9Y5P5, uc317pli.1, uc317pli.2
UCSC ID: ENST00000313597.10_5
RefSeq Accession: NM_013335.4
Protein: Q96IJ6 (aka GMPPA_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene GMPPA:
cdg (Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.