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

    Gene ID: 64841, updated on 3-Dec-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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_198066.4NP_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:36174
      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_005268012.4XP_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:36174
      NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate
    2. XM_006720238.4XP_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:36174
      NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate
    3. XM_047431705.1XP_047287661.1  glucosamine 6-phosphate N-acetyltransferase isoform X1

      UniProtKB/Swiss-Prot
      Q96EK6
      UniProtKB/TrEMBL
      G3V4W4

    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_054376622.1XP_054232597.1  glucosamine 6-phosphate N-acetyltransferase isoform X1

      UniProtKB/Swiss-Prot
      Q96EK6
      UniProtKB/TrEMBL
      G3V4W4
    2. XM_054376621.1XP_054232596.1  glucosamine 6-phosphate N-acetyltransferase isoform X1

      UniProtKB/Swiss-Prot
      Q96EK6
      UniProtKB/TrEMBL
      G3V4W4