Aliases for GNPDA1 Gene
Aliases for GNPDA1 Gene
External Ids for GNPDA1 Gene
- HGNC: 4417
- Entrez Gene: 10007
- Ensembl: ENSG00000113552
- OMIM: 601798
- UniProtKB: P46926
Previous HGNC Symbols for GNPDA1 Gene
- GNPI
Previous GeneCards Identifiers for GNPDA1 Gene
- GC05M141408
- GC05M141360
- GC05M136526
Summaries 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. Among its related pathways are Amino sugar and nucleotide sugar metabolism and 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 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).
Additional gene information for GNPDA1 Gene
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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
- Top Transcription factor binding sites by QIAGEN in the GNPDA1 gene promoter:
-
- Egr-3
- Nkx2-5
- Egr-4
- Egr-2
Regulatory Element Products
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:
-
- 5q31.3 by Entrez Gene
- 5q31.3 by HGNC
- 5q31.3 by Ensembl
GNPDA1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for GNPDA1 Gene
Post-translational modifications for GNPDA1 Gene
Other Protein References for GNPDA1 Gene
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-
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-
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Assay Products
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No data available for DME Specific Peptides for GNPDA1 Gene
Domains & Families for GNPDA1 Gene
Gene Families for GNPDA1 Gene
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Protein Domains for GNPDA1 Gene
Suggested Antigen Peptide Sequences for GNPDA1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P46926UniProtKB/Swiss-Prot:
GNPI1_HUMAN :- Belongs to the glucosamine/galactosamine-6-phosphate isomerase family.
- Family:
-
- Belongs to the glucosamine/galactosamine-6-phosphate isomerase family.
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:
- Alpha-D-glucosamine 6-phosphate + H(2)O = D-fructose 6-phosphate + NH(3).
Enzyme Numbers (IUBMB) for GNPDA1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004342 | glucosamine-6-phosphate deaminase activity | TAS | -- |
| GO:0005515 | protein binding | IPI | 25416956 |
| GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for GNPDA1 Gene
- MGI mutant phenotypes for GNPDA1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for GNPDA1:
-
- Decreased DCP1a protein expression and assembly in processing bodies after arsenite stimulation
- Decreased viability
- no effect
- Decreased cell number
- Increased vaccinia virus (VACV) infection
- Decreased NF-kappaB reporter expression
- shRNA abundance <= 50%
- Increased viability
- Increased transferrin (TF) endocytosis
Animal Models for GNPDA1 Gene
- MGI Knock Outs for GNPDA1:
-
- Gnpda1 Gnpda1<tm1b(KOMP)Mbp>
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-
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-
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No data available for Phenotypes From GWAS Catalog , 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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytosol | 5 |
| plasma membrane | 2 |
| nucleus | 2 |
- Golgi apparatus (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA,ISS | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0070062 | extracellular exosome | HDA | 19056867 |
Pathways & Interactions for GNPDA1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Amino sugar and nucleotide sugar metabolism | ||
| 2 | Metabolism |
.37
|
|
| 3 | Glucose metabolism | ||
| 4 | Glycosaminoglycan metabolism | ||
Pathways by source for GNPDA1 Gene
3 BioSystems pathways for GNPDA1 Gene
3 Reactome pathways for GNPDA1 Gene
2 KEGG pathways for GNPDA1 Gene
Interacting Proteins for GNPDA1 Gene
Selected Interacting proteins:
ENSP00000311876
P46926-GNPI1_HUMAN
for GNPDA1 Gene via
STRING
UniProtKB
IID
GPS-Prot Interaction Network for GNPDA1
| 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 | -- |
| GO:0006048 | UDP-N-acetylglucosamine biosynthetic process | IBA | -- |
No data available for SIGNOR curated interactions for GNPDA1 Gene
Drugs & Compounds for GNPDA1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Fructose 6-phosphate |
|
643-13-0 |
|
|||
| N-Acetyl-D-Glucosamine 6-Phosphate |
|
18191-20-3 |
|
Drug Products
Transcripts for GNPDA1 Gene
mRNA/cDNA for GNPDA1 Gene
- (5) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (387) Selected AceView cDNA sequences:
- (13) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000513454 980 bps (uc063idv.1)
- ENST00000311337 2273 bps (uc010jgh.4)
- ENST00000500692 2319 bps (uc063idw.1)
- ENST00000508177 2980 bps (uc003lmf.5)
- ENST00000503794 2622 bps (uc003lmg.5)
Unigene Clusters for GNPDA1 Gene
CRISPR Products
-
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-
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Clone Products
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | - | - |
Expression 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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of GNPDA1 Gene:
GNPDA1SOURCE GeneReport for Unigene cluster for GNPDA1 Gene:
Hs.633853Evidence 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)
Primer Products
-
OriGene qPCR primer pairs for GNPDA1
-
OriGene qPCR primer pairs and template standards for GNPDA1
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Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | GNPDA1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | GNPDA1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | GNPDA1 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Gnpda1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Gnpda1 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | GNPDA1 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| lizard (Anolis carolinensis) |
Reptilia | GNPDA1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | gnpda1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | gnpda1 34 33 |
|
OneToOne | |
| Dr.18431 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10253 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Oscillin 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | T03F6.3 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.10232 34 |
|
OneToMany | |
| Cin.654 33 |
|
||||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.654 33 |
|
- 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
Variants for GNPDA1 Gene
| SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000169409 | -- | 142,008,396(-) | T/C | intron_variant | |
| rs1000363633 | -- | 142,001,413(-) | T/C | 3_prime_UTR_variant | |
| rs1000557263 | -- | 142,013,757(-) | G/A | upstream_transcript_variant | |
| rs1000809671 | -- | 142,007,092(-) | G/T | intron_variant | |
| rs1000845197 | -- | 142,003,017(-) | G/C | intron_variant |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNPDA1 Gene
Disorders for GNPDA1 Gene
Additional Disease Information for GNPDA1
No disorders were found for GNPDA1 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GNPDA1 Gene
Publications for GNPDA1 Gene
- 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 22 58
- Two mammalian glucosamine-6-phosphate deaminases: a structural and genetic study. (PMID: 12965206) Arreola R … Horjales E (FEBS letters 2003) 3 4 22 58
- 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 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J … Rubin EM (Nature 2004) 3 4 58
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- Boster Bio Antibodies for GNPDA1
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Sources for GNPDA1 Gene
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