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    GNPDA1 glucosamine-6-phosphate deaminase 1 [ Homo sapiens (human) ]

    Gene ID: 10007, updated on 17-Jun-2019

    Summary

    Official Symbol
    GNPDA1provided by HGNC
    Official Full Name
    glucosamine-6-phosphate deaminase 1provided by HGNC
    Primary source
    HGNC:HGNC:4417
    See related
    Ensembl:ENSG00000113552 MIM:601798
    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
    GPI; HLN; GNP1; GNPI; GNPDA
    Summary
    Glucosamine-6-phosphate deaminase (EC 3.5.99.6) is an allosteric enzyme that catalyzes the reversible conversion of D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium (Arreola et al., 2003 [PubMed 12965206]).[supplied by OMIM, Jan 2010]
    Expression
    Ubiquitous expression in kidney (RPKM 29.0), urinary bladder (RPKM 18.6) and 24 other tissues See more
    Orthologs

    Genomic context

    See GNPDA1 in Genome Data Viewer
    Location:
    5q31.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (142000671..142013027, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (141380234..141392620, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene DAP3 binding cell death enhancer 1 Neighboring gene protocadherin 12 Neighboring gene ring finger protein 14 Neighboring gene mitochondrial ribosomal protein L11 pseudogene 2 Neighboring gene uncharacterized LOC105378204

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA0060

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    glucosamine-6-phosphate deaminase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    glucosamine-6-phosphate deaminase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    identical protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    N-acetylglucosamine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    N-acetylneuraminate catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    UDP-N-acetylglucosamine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    generation of precursor metabolites and energy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    glucosamine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    glucosamine catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    glucosamine catabolic process TAS
    Traceable Author Statement
    more info
     
    single fertilization TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 

    General protein information

    Preferred Names
    glucosamine-6-phosphate isomerase 1
    Names
    GNPDA 1
    glcN6P deaminase 1
    oscillin
    NP_005462.1
    XP_005268405.1
    XP_006714810.1
    XP_011535839.1
    XP_024310087.1

    NCBI Reference Sequences (RefSeq)

    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_005471.5NP_005462.1  glucosamine-6-phosphate isomerase 1

      See identical proteins and their annotated locations for NP_005462.1

      Status: VALIDATED

      Source sequence(s)
      AC005740, BC022322, CA432951
      Consensus CDS
      CCDS4272.1
      UniProtKB/Swiss-Prot
      P46926
      Related
      ENSP00000311876.6, ENST00000311337.11
      Conserved Domains (1) summary
      cl00339
      Location:1253
      SugarP_isomerase; SugarP_isomerase: Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      142000671..142013027 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006714747.2XP_006714810.1  glucosamine-6-phosphate isomerase 1 isoform X2

      See identical proteins and their annotated locations for XP_006714810.1

      UniProtKB/Swiss-Prot
      P46926
      Related
      ENSP00000424275.1, ENST00000500692.6
      Conserved Domains (1) summary
      cl00339
      Location:1253
      SugarP_isomerase; SugarP_isomerase: Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ...
    2. XM_024454319.1XP_024310087.1  glucosamine-6-phosphate isomerase 1 isoform X2

      Related
      ENSP00000423485.1, ENST00000503794.5
      Conserved Domains (1) summary
      cl00339
      Location:1253
      SugarP_isomerase; SugarP_isomerase: Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ...
    3. XM_011537537.1XP_011535839.1  glucosamine-6-phosphate isomerase 1 isoform X2

      See identical proteins and their annotated locations for XP_011535839.1

      UniProtKB/Swiss-Prot
      P46926
      Conserved Domains (1) summary
      cl00339
      Location:1253
      SugarP_isomerase; SugarP_isomerase: Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ...
    4. XM_005268348.1XP_005268405.1  glucosamine-6-phosphate isomerase 1 isoform X1

      Conserved Domains (1) summary
      PRK00443
      Location:30287
      nagB; glucosamine-6-phosphate deaminase; Provisional
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