U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 64841, updated on 2-Nov-2024

Summary

Go to the top of the page Help
Official Symbol
GNPNAT1provided by HGNC
Official Full Name
glucosamine-phosphate N-acetyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:19980
See related
Ensembl:ENSG00000100522 MIM:616510; AllianceGenome:HGNC:19980
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
GNA1; GNPNAT; Gpnat1; RHZDAN
Summary
Enables identical protein binding activity. Predicted to be involved in UDP-N-acetylglucosamine biosynthetic process. Predicted to act upstream of or within cellular response to leukemia inhibitory factor. Predicted to be located in endoplasmic reticulum-Golgi intermediate compartment and late endosome. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in liver (RPKM 17.9), colon (RPKM 9.0) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See GNPNAT1 in Genome Data Viewer
Location:
14q22.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (52775193..52791607, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (46982987..46999449, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (53241911..53258325, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8395 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5747 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5748 Neighboring gene proteasome 26S subunit, ATPase 6 Neighboring gene Sharpr-MPRA regulatory region 400 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:53218646-53218797 Neighboring gene serine/threonine/tyrosine interacting protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8397 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr14:53257919-53258432 and GRCh37_chr14:53258433-53258947 Neighboring gene uncharacterized LOC105370500 Neighboring gene COP9 signalosome subunit 9 pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:53301633-53302238 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:53302239-53302843 Neighboring gene Sharpr-MPRA regulatory region 8176 Neighboring gene FERM domain containing kindlin 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:53350617-53351142 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:53351143-53351668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8398 Neighboring gene Sharpr-MPRA regulatory region 10339 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5751

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues 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

Go to the top of the pageHelp

Related articles in PubMed

  1. GNPNAT1 promotes the stemness of breast cancer and serves as a potential prognostic biomarker. Hu H, et al. Oncol Rep, 2023 Aug. PMID 37387422, Free PMC Article
  2. Partial purification and kinetic properties of three different D-glucosamine 6-P:N-acetyltransferase forms from human placenta. Vessal M, et al. Comp Biochem Physiol B Biochem Mol Biol, 1998 Dec. PMID 9972309
  3. Human acetyl-CoA:glucosamine-6-phosphate N-acetyltransferase 1 has a relaxed donor specificity and transfers acyl groups up to four carbons in length. Brockhausen I, et al. Biochem Cell Biol, 2016 Apr. PMID 26935656
  4. Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1. Ain NU, et al. J Med Genet, 2021 May. PMID 32591345
  5. Independent Prognostic Potential of GNPNAT1 in Lung Adenocarcinoma. Zheng X, et al. Biomed Res Int, 2020. PMID 33178836, Free PMC Article

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. GNPNAT1 promotes the stemness of breast cancer and serves as a potential prognostic biomarker.
    Title: GNPNAT1 promotes the stemness of breast cancer and serves as a potential prognostic biomarker.
  2. GNPNAT1 is a potential biomarker correlated with immune infiltration and immunotherapy outcome in breast cancer.
    Title: GNPNAT1 is a potential biomarker correlated with immune infiltration and immunotherapy outcome in breast cancer.
  3. Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1.
    Title: Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1.
  4. Potential role of glucosamine-phosphate N-acetyltransferase 1 in the development of lung adenocarcinoma.
    Title: Potential role of glucosamine-phosphate N-acetyltransferase 1 in the development of lung adenocarcinoma.
  5. Independent Prognostic Potential of GNPNAT1 in Lung Adenocarcinoma.
    Title: Independent Prognostic Potential of GNPNAT1 in Lung Adenocarcinoma.
  6. The Glucosamine-6-phosphate N-acetyltransferase1 (GNA1) catalyses the transfer of an acetyl group from acetyl coenzyme A to glucosamine-6-phosphate to form N-acetylglucosamine-6-phosphate which is an essential intermediate in UDP-GlcNAc biosynthesis.
    Title: Human acetyl-CoA:glucosamine-6-phosphate N-acetyltransferase 1 has a relaxed donor specificity and transfers acyl groups up to four carbons in length.
  7. Crystal structures of human GNA1, including apo GNA1, the GNA1-GlcN6P complex and an E156A mutant were reported.
    Title: Acceptor substrate binding revealed by crystal structure of human glucosamine-6-phosphate N-acetyltransferase 1.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ10607

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables glucosamine 6-phosphate N-acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in UDP-N-acetylglucosamine biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in endosome membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
glucosamine 6-phosphate N-acetyltransferase
Names
phosphoglucosamine acetylase
phosphoglucosamine transacetylase
NP_932332.1
XP_005268069.1
XP_006720301.1
XP_047287661.1
XP_054232596.1
XP_054232597.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_198066.4 → NP_932332.1  glucosamine 6-phosphate N-acetyltransferase

    See identical proteins and their annotated locations for NP_932332.1

    Status: VALIDATED

    Source sequence(s)
    AK090577, AL139317, BG717628, CA435370
    Consensus CDS
    CCDS9712.1
    UniProtKB/Swiss-Prot
    Q96EK6
    UniProtKB/TrEMBL
    G3V4W4
    Related
    ENSP00000216410.3, ENST00000216410.8
    Conserved Domains (1) summary
    cl17182
    Location:36 → 174
    NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate

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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    52775193..52791607 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268012.4 → XP_005268069.1  glucosamine 6-phosphate N-acetyltransferase isoform X1

    See identical proteins and their annotated locations for XP_005268069.1

    UniProtKB/Swiss-Prot
    Q96EK6
    UniProtKB/TrEMBL
    G3V4W4
    Related
    ENSP00000452032.1, ENST00000557604.1
    Conserved Domains (1) summary
    cl17182
    Location:36 → 174
    NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate

  2. XM_006720238.4 → XP_006720301.1  glucosamine 6-phosphate N-acetyltransferase isoform X1

    See identical proteins and their annotated locations for XP_006720301.1

    UniProtKB/Swiss-Prot
    Q96EK6
    UniProtKB/TrEMBL
    G3V4W4
    Conserved Domains (1) summary
    cl17182
    Location:36 → 174
    NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate

  3. XM_047431705.1 → XP_047287661.1  glucosamine 6-phosphate N-acetyltransferase isoform X1

    UniProtKB/Swiss-Prot
    Q96EK6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    46982987..46999449 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376622.1 → XP_054232597.1  glucosamine 6-phosphate N-acetyltransferase isoform X1

    UniProtKB/Swiss-Prot
    Q96EK6

  2. XM_054376621.1 → XP_054232596.1  glucosamine 6-phosphate N-acetyltransferase isoform X1

    UniProtKB/Swiss-Prot
    Q96EK6
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96EK6.1 GenPept UniProtKB/Swiss-Prot:Q96EK6

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous