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] See more...

Aliases for GNPDA1 Gene

Aliases for GNPDA1 Gene

  • Glucosamine-6-Phosphate Deaminase 1 2 3 4 5
  • Oscillin 2 3 4
  • Glucosamine-6-Phosphate Isomerase 1 3 4
  • GlcN6P Deaminase 1 3 4
  • EC 3.5.99.6 4 52
  • GNPDA 1 3 4
  • GNPI 3 4
  • HLN 3 4
  • Glucosamine-6-Phosphate Deaminase 2
  • Glucosamine-6-Phosphate Isomerase 2
  • KIAA0060 4
  • GNPDA 3
  • GNP1 3
  • GPI 3

External Ids for GNPDA1 Gene

Previous HGNC Symbols for GNPDA1 Gene

  • GNPI

Previous GeneCards Identifiers for GNPDA1 Gene

  • GC05M141408
  • GC05M141360
  • GC05M136526

Summaries for GNPDA1 Gene

Entrez Gene Summary for GNPDA1 Gene

  • 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]

GeneCards Summary for GNPDA1 Gene

GNPDA1 (Glucosamine-6-Phosphate Deaminase 1) is a Protein Coding gene. Diseases associated with GNPDA1 include Griscelli Syndrome, Type 3. Among its related pathways are Metabolism and Amino sugar and nucleotide sugar metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity and glucosamine-6-phosphate deaminase activity. An important paralog of this gene is GNPDA2.

UniProtKB/Swiss-Prot Summary for GNPDA1 Gene

  • Seems to trigger calcium oscillations in mammalian eggs. These oscillations serve as the essential trigger for egg activation and early development of the embryo (By similarity).

Gene Wiki entry for GNPDA1 Gene

Additional gene information for GNPDA1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GNPDA1 Gene

Genomics for GNPDA1 Gene

GeneHancer (GH) Regulatory Elements for GNPDA1 Gene

Promoters and enhancers for GNPDA1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GNPDA1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GNPDA1

Top Transcription factor binding sites by QIAGEN in the GNPDA1 gene promoter:
  • Egr-2
  • Egr-3
  • Egr-4
  • Nkx2-5

Genomic Locations for GNPDA1 Gene

Genomic Locations for GNPDA1 Gene
chr5:141,991,749-142,013,055
(GRCh38/hg38)
Size:
21,307 bases
Orientation:
Minus strand
chr5:141,371,314-141,392,620
(GRCh37/hg19)
Size:
21,307 bases
Orientation:
Minus strand

Genomic View for GNPDA1 Gene

Genes around GNPDA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNPDA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNPDA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNPDA1 Gene

Proteins for GNPDA1 Gene

  • Protein details for GNPDA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P46926-GNPI1_HUMAN
    Recommended name:
    Glucosamine-6-phosphate isomerase 1
    Protein Accession:
    P46926
    Secondary Accessions:
    • B7Z3X4
    • D3DQE7

    Protein attributes for GNPDA1 Gene

    Size:
    289 amino acids
    Molecular mass:
    32669 Da
    Quaternary structure:
    • Homohexamer.
    SequenceCaution:
    • Sequence=BAA06544.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GNPDA1 Gene

    Alternative splice isoforms for GNPDA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GNPDA1 Gene

Selected DME Specific Peptides for GNPDA1 Gene

P46926:
  • NFFKHIDI
  • SRTRVKTL
  • ALTVGVGT
  • TFNMDEYV
  • GHIAFNEP
  • HPESYHSFM
  • TGSTPLG
  • VNHMWTVSA
  • KTLAMDTILANA
  • ELKVKTVKYF
  • FNEPGSS
  • VKTVKYFKGLM
  • VHNKLVDPL
  • SFMWNNFF
  • HILDGNA
  • DEDATLEL
  • LFVGGIGPDGH

Post-translational modifications for GNPDA1 Gene

  • Ubiquitination at Lys256 and Lys264
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for GNPDA1
  • Boster Bio Antibodies for GNPDA1

Domains & Families for GNPDA1 Gene

Gene Families for GNPDA1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for GNPDA1 Gene

Blocks:
  • Glucosamine-6-phosphate isomerase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GNPDA1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55085, highly similar to Glucosamine-6-phosphate isomerase (EC 3.5.99.6) (B7Z3X4_HUMAN)
  • Oscillin (GNPI1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P46926

UniProtKB/Swiss-Prot:

GNPI1_HUMAN :
  • Belongs to the glucosamine/galactosamine-6-phosphate isomerase family.
Family:
  • Belongs to the glucosamine/galactosamine-6-phosphate isomerase family.
genes like me logo Genes that share domains with GNPDA1: view

Function for GNPDA1 Gene

Molecular function for GNPDA1 Gene

UniProtKB/Swiss-Prot Function:
Seems to trigger calcium oscillations in mammalian eggs. These oscillations serve as the essential trigger for egg activation and early development of the embryo (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=alpha-D-glucosamine 6-phosphate + H2O = beta-D-fructose 6-phosphate + NH4(+); Xref=Rhea:RHEA:12172, ChEBI:CHEBI:15377, ChEBI:CHEBI:28938, ChEBI:CHEBI:57634, ChEBI:CHEBI:75989; EC=3.5.99.6;.

Enzyme Numbers (IUBMB) for GNPDA1 Gene

Phenotypes From GWAS Catalog for GNPDA1 Gene

Gene Ontology (GO) - Molecular Function for GNPDA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004342 glucosamine-6-phosphate deaminase activity IMP 9438414
GO:0005515 protein binding IPI 25416956
GO:0016787 hydrolase activity IEA --
GO:0042802 identical protein binding IBA 21873635
genes like me logo Genes that share ontologies with GNPDA1: view
genes like me logo Genes that share phenotypes with GNPDA1: view

Animal Models for GNPDA1 Gene

MGI Knock Outs for GNPDA1:
  • Gnpda1 Gnpda1<tm1b(KOMP)Mbp>

Animal Model Products

  • Taconic Biosciences Mouse Models for GNPDA1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNPDA1

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GNPDA1 Gene

Localization for GNPDA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNPDA1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GNPDA1 gene
Compartment Confidence
cytosol 5
plasma membrane 2
extracellular 2
nucleus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GNPDA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,ISS --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with GNPDA1: view

Pathways & Interactions for GNPDA1 Gene

genes like me logo Genes that share pathways with GNPDA1: view

Gene Ontology (GO) - Biological Process for GNPDA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006043 glucosamine catabolic process TAS --
GO:0006044 N-acetylglucosamine metabolic process IEA --
GO:0006046 N-acetylglucosamine catabolic process IBA 21873635
GO:0006048 UDP-N-acetylglucosamine biosynthetic process IBA 21873635
genes like me logo Genes that share ontologies with GNPDA1: view

No data available for SIGNOR curated interactions for GNPDA1 Gene

Drugs & Compounds for GNPDA1 Gene

(9) Drugs for GNPDA1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884
Ammonia Approved Pharma 0
Water Approved Pharma 0
glucosamine 6-phosphate Experimental Pharma 0
2-Deoxy-2-Amino Glucitol-6-Phosphate Experimental Pharma Target 0

(5) Additional Compounds for GNPDA1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fructose 6-phosphate
  • D-Fructose 6-phosphate
  • D-Fructose 6-phosphoric acid
  • Fructose-6-phosphate
  • Neuberg ester
  • Fructose 6-phosphoric acid
643-13-0
N-Acetyl-D-Glucosamine 6-Phosphate
  • 2-acetamido-2-Deoxy-6-O-phosphono-D-glucopyranose
  • N-Acetyl-D-glucosamine 6-phosphoric acid
  • N-Acetyl-D-glucosamine-6-P
  • N-Acetyl-D-glucosamine-6-phosphate
  • N-Acetyl-glucosamine-6-P
18191-20-3
genes like me logo Genes that share compounds with GNPDA1: view

Transcripts for GNPDA1 Gene

mRNA/cDNA for GNPDA1 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNPDA1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GNPDA1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d · 8e ^ 9a · 9b · 9c · 9d ^ 10a · 10b · 10c
SP1: -
SP2: - - - - - -
SP3: - - - - -
SP4: - - - - - - - - -
SP5: - - - - - - - - - -
SP6: -
SP7: - -
SP8: - - -
SP9: - - - - - - -
SP10: - - - -
SP11: - - -
SP12: - - -
SP13: - - - - -
SP14: - -

Relevant External Links for GNPDA1 Gene

GeneLoc Exon Structure for
GNPDA1

Expression for GNPDA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GNPDA1 Gene

Protein differential expression in normal tissues from HIPED for GNPDA1 Gene

This gene is overexpressed in Spleen (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GNPDA1 Gene



Protein tissue co-expression partners for GNPDA1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GNPDA1

SOURCE GeneReport for Unigene cluster for GNPDA1 Gene:

Hs.633853

Evidence on tissue expression from TISSUES for GNPDA1 Gene

  • Nervous system(4.8)
  • Skin(4.5)
  • Bone marrow(4.1)
  • Kidney(2.3)
  • Lymph node(2.1)
genes like me logo Genes that share expression patterns with GNPDA1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GNPDA1 Gene

Orthologs for GNPDA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GNPDA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GNPDA1 31 30
  • 99.77 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GNPDA1 31 30
  • 94.12 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GNPDA1 31 30
  • 92.27 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gnpda1 30
  • 90.43 (n)
mouse
(Mus musculus)
Mammalia Gnpda1 17 31 30
  • 90.31 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 90 (a)
OneToMany
-- 31
  • 89 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 81 (a)
OneToMany
-- 31
  • 69 (a)
OneToMany
chicken
(Gallus gallus)
Aves GNPDA1 31
  • 91 (a)
OneToMany
-- 31
  • 85 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia GNPDA1 31
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gnpda1 30
  • 77.85 (n)
zebrafish
(Danio rerio)
Actinopterygii gnpda1 31 30
  • 78.78 (n)
OneToOne
Dr.18431 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10253 30
fruit fly
(Drosophila melanogaster)
Insecta Oscillin 31
  • 73 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T03F6.3 31
  • 69 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10232 31
  • 79 (a)
OneToMany
Cin.654 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.654 30
Species where no ortholog for GNPDA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GNPDA1 Gene

ENSEMBL:
Gene Tree for GNPDA1 (if available)
TreeFam:
Gene Tree for GNPDA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GNPDA1: view image

Paralogs for GNPDA1 Gene

Paralogs for GNPDA1 Gene

(1) SIMAP similar genes for GNPDA1 Gene using alignment to 9 proteins:

  • GNPI1_HUMAN
  • B7Z3X4_HUMAN
  • D6R917_HUMAN
  • D6R9P4_HUMAN
  • D6RAY7_HUMAN
  • D6RB13_HUMAN
  • D6RFF8_HUMAN
  • D6RFK5_HUMAN
  • E7EVU7_HUMAN
genes like me logo Genes that share paralogs with GNPDA1: view

Variants for GNPDA1 Gene

Additional dbSNP identifiers (rs#s) for GNPDA1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GNPDA1 Gene

Variant ID Type Subtype PubMed ID
nsv1154058 CNV deletion 26484159
nsv5036 CNV insertion 18451855
nsv511116 OTHER complex 20534489

Variation tolerance for GNPDA1 Gene

Residual Variation Intolerance Score: 21.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.44; 9.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GNPDA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNPDA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GNPDA1 Gene

Disorders for GNPDA1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GNPDA1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
griscelli syndrome, type 3
  • gs3
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GNPDA1

genes like me logo Genes that share disorders with GNPDA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GNPDA1 Gene

Publications for GNPDA1 Gene

  1. The human glucosamine-6-phosphate deaminase gene: cDNA cloning and expression, genomic organization and chromosomal localization. (PMID: 9714720) Shevchenko V … Lai FA (Gene 1998) 2 3 4 23 54
  2. Two mammalian glucosamine-6-phosphate deaminases: a structural and genetic study. (PMID: 12965206) Arreola R … Horjales E (FEBS letters 2003) 3 4 23 54
  3. Molecularly cloned mammalian glucosamine-6-phosphate deaminase localizes to transporting epithelium and lacks oscillin activity. (PMID: 9438414) Wolosker H … Snyder SH (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 1998) 2 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for GNPDA1 Gene

Sources for GNPDA1 Gene