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

    Gene ID: 10007, updated on 27-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:4417
    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
    mouse all
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    Genomic context

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    See GNPDA1 in Genome Data Viewer
    Location:
    5q31.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (142000671..142013027, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (142530868..142543257, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (141380236..141392592, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:141336627-141337533 Neighboring gene protocadherin 12 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:141337534-141338439 Neighboring gene uncharacterized LOC124901095 Neighboring gene ring finger protein 14 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16464 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23314 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16465 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16466 Neighboring gene CRISPRi-validated cis-regulatory element chr5.3497 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16467 Neighboring gene Sharpr-MPRA regulatory region 4900 Neighboring gene mitochondrial ribosomal protein L11 pseudogene 2 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:141427829-141428696 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:141428697-141429562 Neighboring gene uncharacterized LOC105378204 Neighboring gene MPRA-validated peak5504 silencer

    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. Glucosamine 6-phosphate deaminase in normal human erythrocytes. Weidanz JA, et al. Br J Haematol, 1995 Sep. PMID 7577655
    2. Allosteric kinetics of the isoform 1 of human glucosamine-6-phosphate deaminase. Alvarez-Añorve LI, et al. Biochim Biophys Acta, 2011 Dec. PMID 21807125
    3. The human glucosamine-6-phosphate deaminase gene: cDNA cloning and expression, genomic organization and chromosomal localization. Shevchenko V, et al. Gene, 1998 Aug 17. PMID 9714720
    4. Cloning and functional characterization of GNPI2, a novel human homolog of glucosamine-6-phosphate isomerase/oscillin. Zhang J, et al. J Cell Biochem, 2003 Apr 1. PMID 12616532
    5. Molecularly cloned mammalian glucosamine-6-phosphate deaminase localizes to transporting epithelium and lacks oscillin activity. Wolosker H, et al. FASEB J, 1998 Jan. PMID 9438414

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GNPDA1 siRNA induced GFAT2 which was hardly measurable in these cells under standard culture conditions, GNPDA2 siRNA increased GFAT1, and GFAT1 siRNA increased the expression of hyaluronan synthase 2 (HAS2). Silencing of GFAT1 stimulated GNPDA1 and GDPDA2, and inhibited cell migration.
      Title: Hexosamine biosynthesis in keratinocytes: roles of GFAT and GNPDA enzymes in the maintenance of UDP-GlcNAc content and hyaluronan synthesis.
    2. Allosteric kinetics of the isoform 1 of human glucosamine-6-phosphate deaminase.
      Title: Allosteric kinetics of the isoform 1 of human glucosamine-6-phosphate deaminase.
    3. Sequence analysis and crystallographic structure of GNP1.
      Title: Two mammalian glucosamine-6-phosphate deaminases: a structural and genetic study.
    4. identification, chromosomal localization and functional analysis of cDNA encoding GNPI/Oscillin homolog named GNPI2.
      Title: Cloning and functional characterization of GNPI2, a novel human homolog of glucosamine-6-phosphate isomerase/oscillin.
    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)

    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

    Clone Names

    • KIAA0060

    Gene Ontology Provided by GOA

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

    General protein information

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    Preferred Names
    glucosamine-6-phosphate isomerase 1
    Names
    GNPDA 1
    glcN6P deaminase 1
    oscillin
    NP_005462.1
    XP_005268405.1
    XP_006714810.1
    XP_047272538.1
    XP_054207344.1
    XP_054207345.1

    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_005471.5 → NP_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
      B7Z3X4, D3DQE7, P46926
      UniProtKB/TrEMBL
      A8K3S1
      Related
      ENSP00000311876.6, ENST00000311337.11
      Conserved Domains (1) summary
      cl00339
      Location:1 → 253
      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 ribulose ...

    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_000005.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for XP_006714810.1

      UniProtKB/Swiss-Prot
      B7Z3X4, D3DQE7, P46926
      UniProtKB/TrEMBL
      A8K3S1
      Related
      ENSP00000424275.1, ENST00000500692.6
      Conserved Domains (1) summary
      cl00339
      Location:1 → 253
      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 ribulose ...

    2. XM_047416582.1 → XP_047272538.1  glucosamine-6-phosphate isomerase 1 isoform X2

      UniProtKB/Swiss-Prot
      B7Z3X4, D3DQE7, P46926
      Related
      ENSP00000423485.1, ENST00000503794.5

    3. XM_005268348.2 → XP_005268405.1  glucosamine-6-phosphate isomerase 1 isoform X1

      UniProtKB/TrEMBL
      A8K3S1
      Conserved Domains (1) summary
      PRK00443
      Location:30 → 287
      nagB; glucosamine-6-phosphate deaminase; Provisional

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      142530868..142543257 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351369.1 → XP_054207344.1  glucosamine-6-phosphate isomerase 1 isoform X1

    2. XM_054351370.1 → XP_054207345.1  glucosamine-6-phosphate isomerase 1 isoform X2

      UniProtKB/Swiss-Prot
      B7Z3X4, D3DQE7, P46926
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P46926.1 GenPept UniProtKB/Swiss-Prot:P46926

    Gene LinkOut

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