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

Gene ID: 64841, updated on 27-Nov-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
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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)

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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_198066.4NP_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

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

    UniProtKB/Swiss-Prot
    Q96EK6