Aliases for GNPNAT1 Gene

Aliases for GNPNAT1 Gene

  • Glucosamine-Phosphate N-Acetyltransferase 1 2 3 5
  • Glucosamine 6-Phosphate N-Acetyltransferase 3 4
  • Phosphoglucosamine Transacetylase 3 4
  • Phosphoglucosamine Acetylase 3 4
  • EC 2.3.1.4 4 51
  • Gpnat1 2 3
  • GNA1 3 4
  • FLJ10607 2
  • GNPNAT1 5
  • GNPNAT 3

External Ids for GNPNAT1 Gene

Previous GeneCards Identifiers for GNPNAT1 Gene

  • GC14M047037
  • GC14M051231
  • GC14M051233
  • GC14M052311
  • GC14M053241
  • GC14M033402

Summaries for GNPNAT1 Gene

GeneCards Summary for GNPNAT1 Gene

GNPNAT1 (Glucosamine-Phosphate N-Acetyltransferase 1) is a Protein Coding gene. Diseases associated with GNPNAT1 include Griscelli Syndrome, Type 3. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include identical protein binding and monosaccharide binding.

Additional gene information for GNPNAT1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GNPNAT1 Gene

Genomics for GNPNAT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GNPNAT1 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 GNPNAT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GNPNAT1

Top Transcription factor binding sites by QIAGEN in the GNPNAT1 gene promoter:
  • C/EBPalpha
  • Evi-1
  • MRF-2
  • p300
  • POU2F1
  • POU2F1a
  • SRF
  • SRF (504 AA)

Genomic Locations for GNPNAT1 Gene

Genomic Locations for GNPNAT1 Gene
chr14:52,775,193-52,791,668
(GRCh38/hg38)
Size:
16,476 bases
Orientation:
Minus strand
chr14:53,241,911-53,258,386
(GRCh37/hg19)
Size:
16,476 bases
Orientation:
Minus strand

Genomic View for GNPNAT1 Gene

Genes around GNPNAT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNPNAT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNPNAT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNPNAT1 Gene

Proteins for GNPNAT1 Gene

  • Protein details for GNPNAT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96EK6-GNA1_HUMAN
    Recommended name:
    Glucosamine 6-phosphate N-acetyltransferase
    Protein Accession:
    Q96EK6

    Protein attributes for GNPNAT1 Gene

    Size:
    184 amino acids
    Molecular mass:
    20749 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for GNPNAT1 Gene

neXtProt entry for GNPNAT1 Gene

Selected DME Specific Peptides for GNPNAT1 Gene

Q96EK6:
  • LLSTLTLL
  • RGRVEDVVV

Post-translational modifications for GNPNAT1 Gene

  • Ubiquitination at Lys55
  • Modification sites at PhosphoSitePlus

Other Protein References for GNPNAT1 Gene

Antibody Products

  • Abcam antibodies for GNPNAT1
  • Biorbyt antibodies for GNPNAT1

Domains & Families for GNPNAT1 Gene

Gene Families for GNPNAT1 Gene

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

Protein Domains for GNPNAT1 Gene

InterPro:
Blocks:
  • GCN5-related N-acetyltransferase
ProtoNet:

Suggested Antigen Peptide Sequences for GNPNAT1 Gene

GenScript: Design optimal peptide antigens:
  • Phosphoglucosamine transacetylase (GNA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96EK6

UniProtKB/Swiss-Prot:

GNA1_HUMAN :
  • Belongs to the acetyltransferase family. GNA1 subfamily.
Family:
  • Belongs to the acetyltransferase family. GNA1 subfamily.
genes like me logo Genes that share domains with GNPNAT1: view

Function for GNPNAT1 Gene

Molecular function for GNPNAT1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + D-glucosamine 6-phosphate = CoA + H(+) + N-acetyl-D-glucosamine 6-phosphate; Xref=Rhea:RHEA:10292, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:57513, ChEBI:CHEBI:58725; EC=2.3.1.4; Evidence={ECO:0000269|PubMed:18601654, ECO:0000269|PubMed:18675810};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=26 uM for acetyl-coenzyme A {ECO:0000269|PubMed:18601654}; KM=97 uM for glucosamine-6-phosphate {ECO:0000269|PubMed:18601654};

Enzyme Numbers (IUBMB) for GNPNAT1 Gene

Phenotypes From GWAS Catalog for GNPNAT1 Gene

Gene Ontology (GO) - Molecular Function for GNPNAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004343 glucosamine 6-phosphate N-acetyltransferase activity IEA,IBA 21873635
GO:0008080 N-acetyltransferase activity IEA,IBA 21873635
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
GO:0042802 identical protein binding IPI 18675810
genes like me logo Genes that share ontologies with GNPNAT1: view
genes like me logo Genes that share phenotypes with GNPNAT1: view

Animal Models for GNPNAT1 Gene

MGI Knock Outs for GNPNAT1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNPNAT1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GNPNAT1 Gene

Localization for GNPNAT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNPNAT1 Gene

Golgi apparatus membrane. Peripheral membrane protein. Endosome membrane. Peripheral membrane protein.

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 GNPNAT1 gene
Compartment Confidence
cytosol 4
endoplasmic reticulum 3
endosome 3
golgi apparatus 3
extracellular 2
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for GNPNAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005768 endosome IEA --
GO:0005770 late endosome IEA --
GO:0005783 endoplasmic reticulum IBA 21873635
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IBA 21873635
genes like me logo Genes that share ontologies with GNPNAT1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GNPNAT1 Gene

Pathways & Interactions for GNPNAT1 Gene

genes like me logo Genes that share pathways with GNPNAT1: view

UniProtKB/Swiss-Prot Q96EK6-GNA1_HUMAN

  • Pathway: Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D-glucosamine biosynthesis; N-acetyl-alpha-D-glucosamine 1-phosphate from alpha-D-glucosamine 6-phosphate (route I): step 1/2.

Gene Ontology (GO) - Biological Process for GNPNAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development IEA --
GO:0006041 glucosamine metabolic process IEA --
GO:0006044 N-acetylglucosamine metabolic process IEA --
GO:0006048 UDP-N-acetylglucosamine biosynthetic process IEA,TAS --
GO:1990830 cellular response to leukemia inhibitory factor IEA --
genes like me logo Genes that share ontologies with GNPNAT1: view

No data available for SIGNOR curated interactions for GNPNAT1 Gene

Drugs & Compounds for GNPNAT1 Gene

(2) Drugs for GNPNAT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
glucosamine 6-phosphate Experimental Pharma 0
Coenzyme A Investigational Nutra 0

(2) Additional Compounds for GNPNAT1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
72-89-9
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 GNPNAT1: view

Transcripts for GNPNAT1 Gene

mRNA/cDNA for GNPNAT1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
6 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 GNPNAT1

Alternative Splicing Database (ASD) splice patterns (SP) for GNPNAT1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b
SP1: -
SP2: - -
SP3:

Relevant External Links for GNPNAT1 Gene

GeneLoc Exon Structure for
GNPNAT1

Expression for GNPNAT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GNPNAT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GNPNAT1 Gene

This gene is overexpressed in Liver (x4.4).

Protein differential expression in normal tissues from HIPED for GNPNAT1 Gene

This gene is overexpressed in Skin (9.4), Liver, secretome (7.7), and Salivary gland (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GNPNAT1 Gene



Protein tissue co-expression partners for GNPNAT1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GNPNAT1

SOURCE GeneReport for Unigene cluster for GNPNAT1 Gene:

Hs.478025

Evidence on tissue expression from TISSUES for GNPNAT1 Gene

  • Liver(4.5)
  • Intestine(4.4)
  • Nervous system(2.3)
genes like me logo Genes that share expression patterns with GNPNAT1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GNPNAT1 Gene

Orthologs for GNPNAT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GNPNAT1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GNPNAT1 30 31
  • 99.82 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GNPNAT1 31
  • 97 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia GNPNAT1 30 31
  • 96.38 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GNPNAT1 30 31
  • 96.2 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gnpnat1 30 17 31
  • 91.67 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gnpnat1 30
  • 91.3 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia GNPNAT1 31
  • 88 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GNPNAT1 30 31
  • 77.11 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GNPNAT1 31
  • 64 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68838 30
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.10832 30
Zebrafish
(Danio rerio)
Actinopterygii gnpnat1 30 31
  • 71.56 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4489 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG1969 30 31
  • 52.33 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010769 30
  • 50.1 (n)
Worm
(Caenorhabditis elegans)
Secernentea gna-2 30 31
  • 52.04 (n)
OneToMany
gna-1 31
  • 44 (a)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFR510W 30
  • 50.22 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D07700g 30
  • 48.35 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GNA1 30 31 33
  • 43.28 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons GNA1 30
  • 48.53 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4645 31
  • 44 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU01902 30
  • 42.82 (n)
Species where no ortholog for GNPNAT1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • 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)
  • 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 Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GNPNAT1 Gene

ENSEMBL:
Gene Tree for GNPNAT1 (if available)
TreeFam:
Gene Tree for GNPNAT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GNPNAT1: view image

Paralogs for GNPNAT1 Gene

Pseudogenes.org Pseudogenes for GNPNAT1 Gene

genes like me logo Genes that share paralogs with GNPNAT1: view

No data available for Paralogs for GNPNAT1 Gene

Variants for GNPNAT1 Gene

Additional dbSNP identifiers (rs#s) for GNPNAT1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GNPNAT1 Gene

Variant ID Type Subtype PubMed ID
esv2677927 CNV deletion 23128226
esv2748720 CNV deletion 23290073
esv3634528 CNV loss 21293372
esv7884 CNV loss 19470904
nsv1050582 CNV gain 25217958
nsv1279 CNV insertion 18451855
nsv470647 CNV gain 18288195
nsv819339 CNV loss 19587683
nsv826956 CNV loss 20364138
nsv832796 CNV loss 17160897
nsv976341 CNV duplication 23825009

Variation tolerance for GNPNAT1 Gene

Residual Variation Intolerance Score: 45.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.36; 8.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GNPNAT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNPNAT1

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 GNPNAT1 Gene

Disorders for GNPNAT1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GNPNAT1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
griscelli syndrome, type 3
  • gs3
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with GNPNAT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GNPNAT1 Gene

Publications for GNPNAT1 Gene

  1. Acceptor substrate binding revealed by crystal structure of human glucosamine-6-phosphate N-acetyltransferase 1. (PMID: 18675810) Wang J … Su XD (FEBS letters 2008) 3 4 23
  2. Structural and kinetic differences between human and Aspergillus fumigatus D-glucosamine-6-phosphate N-acetyltransferase. (PMID: 18601654) Hurtado-Guerrero R … van Aalten DM (The Biochemical journal 2008) 4 23
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for GNPNAT1 Gene

  • Biorbyt antibodies for GNPNAT1

Sources for GNPNAT1 Gene