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    GDPGP1 GDP-D-glucose phosphorylase 1 [ Homo sapiens (human) ]

    Gene ID: 390637, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GDPGP1provided by HGNC
    Official Full Name
    GDP-D-glucose phosphorylase 1provided by HGNC
    Primary source
    HGNC:HGNC:34360
    See related
    Ensembl:ENSG00000183208 MIM:619240; AllianceGenome:HGNC:34360
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    VTC2; C15orf58
    Summary
    Enables GDP-D-glucose phosphorylase activity. Involved in glucose metabolic process. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in duodenum (RPKM 1.5), testis (RPKM 1.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GDPGP1 in Genome Data Viewer
    Location:
    15q26.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (90234209..90245811)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (87990216..88001816)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (90777441..90789043)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 346, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90717667-90718167 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:90721295-90722200 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:90727462-90728195 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6815 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10065 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10067 Neighboring gene semaphorin 4B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:90744110-90745081 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10068 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:90754487-90755686 Neighboring gene ribosomal protein S12 pseudogene 26 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:90755750-90755924 Neighboring gene Sharpr-MPRA regulatory region 13535 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90764595-90765433 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6818 Neighboring gene calcium and integrin binding 1 Neighboring gene tubulin tyrosine ligase like 13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10069 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10070 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:90807916-90808887 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:90808888-90809858 Neighboring gene neugrin, neurite outgrowth associated

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. A novel GDP-D-glucose phosphorylase involved in quality control of the nucleoside diphosphate sugar pool in Caenorhabditis elegans and mammals. Adler LN, et al. J Biol Chem, 2011 Jun 17. PMID 21507950, Free PMC Article
    2. Ubiquitin-mediated proteolysis of HuR by heat shock. Abdelmohsen K, et al. EMBO J, 2009 May 6. PMID 19322201, Free PMC Article
    3. Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy. Sun X, et al. Acta Pharm Sin B, 2022 Feb. PMID 35256949, Free PMC Article
    4. Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery. Havugimana PC, et al. Nat Commun, 2022 Jul 13. PMID 35831314, Free PMC Article
    5. Panorama of ancient metazoan macromolecular complexes. Wan C, et al. Nature, 2015 Sep 17. PMID 26344197, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. C15orf58 in humans and C10F3.4 in C. elegans display GDP-hexose phosphorylase activity but the major reaction catalyzed by these enzymes is the phosphorolysis of GDP-D-glucose to GDP and D-glucose 1-phosphate
      Title: A novel GDP-D-glucose phosphorylase involved in quality control of the nucleoside diphosphate sugar pool in Caenorhabditis elegans and mammals.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GDP-D-glucose phosphorylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GDP-D-glucose phosphorylase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in glucose metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glucose metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    GDP-D-glucose phosphorylase 1
    Names
    GDP-D-glucose phosphorylase C15orf58
    NP_001013679.2
    NP_001309740.1

    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.

    mRNA and Protein(s)

    1. NM_001013657.3 → NP_001013679.2  GDP-D-glucose phosphorylase 1

      See identical proteins and their annotated locations for NP_001013679.2

      Status: VALIDATED

      Source sequence(s)
      AC091167, BX440248
      Consensus CDS
      CCDS32327.1
      UniProtKB/Swiss-Prot
      Q6ZNW5
      Related
      ENSP00000368405.3, ENST00000329600.8
      Conserved Domains (1) summary
      cl14728
      Location:26 → 383
      DUF4922; Domain of unknown function (DUF4922)

    2. NM_001322811.2 → NP_001309740.1  GDP-D-glucose phosphorylase 1

      Status: VALIDATED

      Source sequence(s)
      AC091167
      Consensus CDS
      CCDS32327.1
      UniProtKB/Swiss-Prot
      Q6ZNW5
      Related
      ENSP00000453822.2, ENST00000559204.6
      Conserved Domains (1) summary
      cl14728
      Location:26 → 383
      DUF4922; Domain of unknown function (DUF4922)

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      90234209..90245811
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      87990216..88001816
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZNW5.2 GenPept UniProtKB/Swiss-Prot:Q6ZNW5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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