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

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

    Summary

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    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
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    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

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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

    EBI GWAS Catalog

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

    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

    • 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

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    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)

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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_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

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