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

    Gene ID: 29926, updated on 27-Nov-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
    mouse all
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    Genomic context

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    See GMPPA in Genome Data Viewer
    Location:
    2q35
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219498891..219506989)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219983636..219991734)
    RS_2024_09 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. 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
    2. 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
    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. Cryo-EM structures of human GMPPA-GMPPB complex reveal how cells maintain GDP-mannose homeostasis. Zheng L, et al. Nat Struct Mol Biol, 2021 May. PMID 33986552

    See all (62) 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
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables enzyme inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT enables mannose-1-phosphate guanylyltransferase (GTP) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in GDP-mannose biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in GDP-mannose metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cognition IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in motor behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in muscle organ morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of nucleobase-containing compound metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of phosphate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of small molecule metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuromuscular process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in skeletal muscle organ development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in telencephalon development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of GDP-mannose pyrophosphorylase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    mannose-1-phosphate guanylyltransferase regulatory subunit alpha; 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 guanylyltransferase regulatory subunit 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 guanylyltransferase regulatory subunit 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 guanylyltransferase regulatory subunit alpha

      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 guanylyltransferase regulatory subunit alpha

      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_2024_08

    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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