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

Gene ID: 10007, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (142000671..142013027, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (142530868..142543257, complement)
105.20220307 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. Allosteric kinetics of the isoform 1 of human glucosamine-6-phosphate deaminase. Alvarez-Añorve LI, et al. Biochim Biophys Acta, 2011 Dec. PMID 21807125
  2. 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
  3. Glucosamine 6-phosphate deaminase in normal human erythrocytes. Weidanz JA, et al. Br J Haematol, 1995 Sep. PMID 7577655
  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 (45) 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)

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

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_2023_10

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

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