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GMPPA GDP-mannose pyrophosphorylase A [ Homo sapiens (human) ]

Gene ID: 29926, updated on 3-Apr-2024

Summary

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Official Symbol
GMPPAprovided by HGNC
Official Full Name
GDP-mannose pyrophosphorylase Aprovided by HGNC
Primary source
HGNC:HGNC:22923
See related
Ensembl:ENSG00000144591 MIM:615495; AllianceGenome:HGNC:22923
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AAMR
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 13.3), prostate (RPKM 10.8) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
2q35
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219498891..219506989)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219983636..219991734)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220363613..220371711)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene striated muscle enriched protein kinase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220313846-220314453 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220315912-220316716 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:220317062-220318261 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:220325404-220325584 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220329861-220330528 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220330529-220331194 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220331442-220331984 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220339972-220340679 Neighboring gene Sharpr-MPRA regulatory region 8597 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220341387-220342094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220348981-220349782 Neighboring gene ASIC4 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 15624 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220361035-220361852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220361853-220362670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220362671-220363488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17153 Neighboring gene SPEG neighbor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17154 Neighboring gene GATA motif-containing MPRA enhancer 279/280 Neighboring gene Sharpr-MPRA regulatory region 4906 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220377201-220377842 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:220379127-220379302 Neighboring gene acid sensing ion channel subunit family member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220387632-220388132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220388133-220388633 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220396965-220397562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220402386-220402940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220402941-220403496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12358 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12359 Neighboring gene chondroitin polymerizing factor Neighboring gene transmembrane protein 198

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome. Diaz J, et al. Am J Med Genet A, 2020 Mar. PMID 31898852
  2. A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction. Gold WA, et al. Am J Med Genet A, 2017 Aug. PMID 28574218
  3. Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. Koehler K, et al. Am J Hum Genet, 2013 Oct 3. PMID 24035193, Free PMC Article
  4. Cloning, expression and characterization of the pig liver GDP-mannose pyrophosphorylase. Evidence that GDP-mannose and GDP-Glc pyrophosphorylases are different proteins. Ning B, et al. Eur J Biochem, 2000 Dec. PMID 11082198
  5. Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview. Adam MP, et al. , 1993. PMID 20301507

See all (53) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome.
    Title: Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome.
  2. Based on our findings and the previous report describing patients with an overlapping phenotype, we conclude that this novel variant in GMPPA, identified by exome sequencing in the proband and her affected sister, is the genetic cause of their phenotype and may expand the known phenotype of this recently described glycosylation disorder.
    Title: A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.
  3. GMPPA might serve as a GMPPB regulatory subunit mediating feedback inhibition of GMPPB instead of displaying catalytic enzyme activity itself.
    Title: Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Alacrima, achalasia, and intellectual disability syndrome
MedGen: C4706563 OMIM: 615510 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
mannose-1-phosphate guanyltransferase alpha
Names
GMPP-alpha
GTP-mannose-1-phosphate guanylyltransferase alpha
epididymis secretory sperm binding protein
mannose-1-phosphate guanylyltransferase (GDP)
NP_001361223.1
NP_001361224.1
NP_037467.2
NP_995319.1
XP_047299979.1
XP_047299980.1
XP_047299981.1
XP_047299982.1
XP_047299983.1
XP_047299984.1
XP_047299985.1
XP_047299986.1
XP_047299987.1
XP_047299988.1
XP_047299989.1
XP_054197529.1
XP_054197530.1
XP_054197531.1
XP_054197532.1
XP_054197533.1
XP_054197534.1
XP_054197535.1
XP_054197536.1
XP_054197537.1
XP_054197538.1
XP_054197539.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033833.1 RefSeqGene

    Range
    5027..13125
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001374294.1 → NP_001361223.1  mannose-1-phosphate guanyltransferase alpha

    Status: REVIEWED

    Source sequence(s)
    AC053503
    Consensus CDS
    CCDS2441.1
    UniProtKB/Swiss-Prot
    A6NJ74, A8K3Q6, B3KMT4, Q53GI0, Q96IJ6, Q9NWC3, Q9Y5P5
    UniProtKB/TrEMBL
    A0A024R482, A0A087WUI8, A0A384MDS7
    Related
    ENSP00000363016.1, ENST00000373908.5
    Conserved Domains (2) summary
    cd06428
    Location:4 → 261
    M1P_guanylylT_A_like_N; N-terminal domain of M1P_guanylyl_A_ like proteins are likely to be a isoform of GDP-mannose pyrophosphorylase
    cl00160
    Location:289 → 355
    LbetaH; Left-handed parallel beta-Helix (LbetaH or LbH) domain: The alignment contains 5 turns, each containing three imperfect tandem repeats of a hexapeptide repeat motif (X-[STAV]-X-[LIV]-[GAED]-X). Proteins containing hexapeptide repeats are often enzymes ...

  2. NM_001374295.1 → NP_001361224.1  mannose-1-phosphate guanyltransferase alpha

    Status: REVIEWED

    Source sequence(s)
    AC053503
    Consensus CDS
    CCDS2441.1
    UniProtKB/Swiss-Prot
    A6NJ74, A8K3Q6, B3KMT4, Q53GI0, Q96IJ6, Q9NWC3, Q9Y5P5
    UniProtKB/TrEMBL
    A0A024R482, A0A087WUI8, A0A384MDS7
    Related
    ENSP00000478700.2, ENST00000622191.2
    Conserved Domains (2) summary
    cd06428
    Location:4 → 261
    M1P_guanylylT_A_like_N; N-terminal domain of M1P_guanylyl_A_ like proteins are likely to be a isoform of GDP-mannose pyrophosphorylase
    cl00160
    Location:289 → 355
    LbetaH; Left-handed parallel beta-Helix (LbetaH or LbH) domain: The alignment contains 5 turns, each containing three imperfect tandem repeats of a hexapeptide repeat motif (X-[STAV]-X-[LIV]-[GAED]-X). Proteins containing hexapeptide repeats are often enzymes ...

  3. NM_013335.4 → NP_037467.2  mannose-1-phosphate guanyltransferase alpha

    See identical proteins and their annotated locations for NP_037467.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses two different splice sites in the 5' UTR, compared to variant 2. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC053503, AK000999, CN309976
    Consensus CDS
    CCDS2441.1
    UniProtKB/Swiss-Prot
    A6NJ74, A8K3Q6, B3KMT4, Q53GI0, Q96IJ6, Q9NWC3, Q9Y5P5
    UniProtKB/TrEMBL
    A0A024R482, A0A087WUI8, A0A384MDS7
    Related
    ENSP00000315925.6, ENST00000313597.10
    Conserved Domains (2) summary
    cd06428
    Location:4 → 261
    M1P_guanylylT_A_like_N; N-terminal domain of M1P_guanylyl_A_ like proteins are likely to be a isoform of GDP-mannose pyrophosphorylase
    cl00160
    Location:289 → 355
    LbetaH; Left-handed parallel beta-Helix (LbetaH or LbH) domain: The alignment contains 5 turns, each containing three imperfect tandem repeats of a hexapeptide repeat motif (X-[STAV]-X-[LIV]-[GAED]-X). Proteins containing hexapeptide repeats are often enzymes ...

  4. NM_205847.3 → NP_995319.1  mannose-1-phosphate guanyltransferase alpha

    See identical proteins and their annotated locations for NP_995319.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC053503, AK022578, BC007456, BP284488, CN309976
    Consensus CDS
    CCDS2441.1
    UniProtKB/Swiss-Prot
    A6NJ74, A8K3Q6, B3KMT4, Q53GI0, Q96IJ6, Q9NWC3, Q9Y5P5
    UniProtKB/TrEMBL
    A0A024R482, A0A087WUI8, A0A384MDS7
    Related
    ENSP00000350949.3, ENST00000358215.8
    Conserved Domains (2) summary
    cd06428
    Location:4 → 261
    M1P_guanylylT_A_like_N; N-terminal domain of M1P_guanylyl_A_ like proteins are likely to be a isoform of GDP-mannose pyrophosphorylase
    cl00160
    Location:289 → 355
    LbetaH; Left-handed parallel beta-Helix (LbetaH or LbH) domain: The alignment contains 5 turns, each containing three imperfect tandem repeats of a hexapeptide repeat motif (X-[STAV]-X-[LIV]-[GAED]-X). Proteins containing hexapeptide repeats are often enzymes ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    219498891..219506989
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047444026.1 → XP_047299982.1  mannose-1-phosphate guanyltransferase alpha isoform X1

  2. XM_047444025.1 → XP_047299981.1  mannose-1-phosphate guanyltransferase alpha isoform X1

  3. XM_047444029.1 → XP_047299985.1  mannose-1-phosphate guanyltransferase alpha isoform X2

  4. XM_047444023.1 → XP_047299979.1  mannose-1-phosphate guanyltransferase alpha isoform X1

  5. XM_047444030.1 → XP_047299986.1  mannose-1-phosphate guanyltransferase alpha isoform X3

  6. XM_047444027.1 → XP_047299983.1  mannose-1-phosphate guanyltransferase alpha isoform X2

    Related
    ENSP00000363027.3, ENST00000373917.7

  7. XM_047444024.1 → XP_047299980.1  mannose-1-phosphate guanyltransferase alpha isoform X1

  8. XM_047444028.1 → XP_047299984.1  mannose-1-phosphate guanyltransferase alpha isoform X2

  9. XM_047444032.1 → XP_047299988.1  mannose-1-phosphate guanyltransferase alpha isoform X5

    Related
    ENSP00000396750.1, ENST00000443704.5

  10. XM_047444033.1 → XP_047299989.1  mannose-1-phosphate guanyltransferase alpha isoform X6

    Related
    ENSP00000508279.1, ENST00000682102.1

  11. XM_047444031.1 → XP_047299987.1  mannose-1-phosphate guanyltransferase alpha isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    219983636..219991734
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054341557.1 → XP_054197532.1  mannose-1-phosphate guanyltransferase alpha isoform X1

  2. XM_054341556.1 → XP_054197531.1  mannose-1-phosphate guanyltransferase alpha isoform X1

  3. XM_054341560.1 → XP_054197535.1  mannose-1-phosphate guanyltransferase alpha isoform X2

  4. XM_054341554.1 → XP_054197529.1  mannose-1-phosphate guanyltransferase alpha isoform X1

  5. XM_054341561.1 → XP_054197536.1  mannose-1-phosphate guanyltransferase alpha isoform X3

  6. XM_054341558.1 → XP_054197533.1  mannose-1-phosphate guanyltransferase alpha isoform X2

  7. XM_054341555.1 → XP_054197530.1  mannose-1-phosphate guanyltransferase alpha isoform X1

  8. XM_054341559.1 → XP_054197534.1  mannose-1-phosphate guanyltransferase alpha isoform X2

  9. XM_054341563.1 → XP_054197538.1  mannose-1-phosphate guanyltransferase alpha isoform X5

  10. XM_054341564.1 → XP_054197539.1  mannose-1-phosphate guanyltransferase alpha isoform X6

  11. XM_054341562.1 → XP_054197537.1  mannose-1-phosphate guanyltransferase alpha isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96IJ6.1 GenPept UniProtKB/Swiss-Prot:Q96IJ6

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