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UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 [ Homo sapiens (human) ]

Gene ID: 6675, updated on 5-Mar-2024

Summary

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Official Symbol
UAP1provided by HGNC
Official Full Name
UDP-N-acetylglucosamine pyrophosphorylase 1provided by HGNC
Primary source
HGNC:HGNC:12457
See related
Ensembl:ENSG00000117143 MIM:602862; AllianceGenome:HGNC:12457
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
AGX; AGX1; AGX2; SPAG2
Summary
Enables identical protein binding activity. Predicted to be involved in UDP-N-acetylglucosamine biosynthetic process. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 52.4), liver (RPKM 41.2) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1q23.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (162561531..162601240)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (161905541..161945257)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (162531321..162571030)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ubiquinol-cytochrome c reductase binding protein pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1493 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1494 Neighboring gene UAP1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2011 Neighboring gene discoidin domain receptor tyrosine kinase 2 Neighboring gene Sharpr-MPRA regulatory region 4859 Neighboring gene RNA, 7SL, cytoplasmic 861, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1495 Neighboring gene MPRA-validated peak435 silencer Neighboring gene hydroxysteroid 17-beta dehydrogenase 7

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
  • 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. A missense mutation in a patient with developmental delay affects the activity and structure of the hexosamine biosynthetic pathway enzyme AGX1. Chen X, et al. FEBS Lett, 2021 Jan. PMID 33098688, Free PMC Article
  2. Quantitative Proteomics of Urinary Bladder Cancer Cell Lines Identify UAP1 as a Potential Therapeutic Target. Puttamallesh VN, et al. Genes (Basel), 2020 Jul 8. PMID 32650368, Free PMC Article
  3. UAP1 is overexpressed in prostate cancer and is protective against inhibitors of N-linked glycosylation. Itkonen HM, et al. Oncogene, 2015 Jul. PMID 25241896
  4. Crystal structures of two human pyrophosphorylase isoforms in complexes with UDPGlc(Gal)NAc: role of the alternatively spliced insert in the enzyme oligomeric assembly and active site architecture. Peneff C, et al. EMBO J, 2001 Nov 15. PMID 11707391, Free PMC Article
  5. A 17-amino acid insert changes UDP-N-acetylhexosamine pyrophosphorylase specificity from UDP-GalNAc to UDP-GlcNAc. Wang-Gillam A, et al. J Biol Chem, 1998 Oct 16. PMID 9765219

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A missense mutation in a patient with developmental delay affects the activity and structure of the hexosamine biosynthetic pathway enzyme AGX1.
    Title: A missense mutation in a patient with developmental delay affects the activity and structure of the hexosamine biosynthetic pathway enzyme AGX1.
  2. Quantitative Proteomics of Urinary Bladder Cancer Cell Lines Identify UAP1 as a Potential Therapeutic Target.
    Title: Quantitative Proteomics of Urinary Bladder Cancer Cell Lines Identify UAP1 as a Potential Therapeutic Target.
  3. Results identified an enzyme, UAP1, which is highly overexpressed in prostate cancer and protects cancer cells from endoplasmic reticulum stress conferring a growth advantage.
    Title: UAP1 is overexpressed in prostate cancer and is protective against inhibitors of N-linked glycosylation.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.
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

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

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of UDP-N-acteylglucosamine pyrophosphorylase 1 (UAP1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables UDP-N-acetylgalactosamine diphosphorylase activity IEA
Inferred from Electronic Annotation
more info
  
enables UDP-N-acetylglucosamine diphosphorylase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein serine pyrophosphorylase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in UDP-N-acetylglucosamine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in UDP-N-acetylglucosamine biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in antiviral innate immune response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of type I interferon production IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
UDP-N-acetylhexosamine pyrophosphorylase
Names
UDP-N-acetylgalactosamine pyrophosphorylase
UDP-N-acetylglucosamine diphosphorylase 1
UDP-N-acetylhexosamine pyrophosphorylase 1
antigen X
protein-pyrophosphorylation enzyme
sperm associated antigen 2
testis tissue sperm-binding protein Li 37a
NP_001311042.1
NP_001311043.1
NP_001311044.1
NP_001311045.1
NP_001311046.1
NP_001375330.1
NP_001375331.1
NP_001386719.1
NP_001386720.1
NP_001386721.1
NP_001386722.1
NP_003106.3
XP_047284799.1
XP_047284801.1
XP_047284804.1
XP_047284805.1
XP_054194434.1
XP_054194435.1
XP_054194436.1
XP_054194437.1

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_001324113.2 → NP_001311042.1  UDP-N-acetylhexosamine pyrophosphorylase isoform a

    Status: VALIDATED

    Source sequence(s)
    AL596325
    Consensus CDS
    CCDS1240.1
    UniProtKB/TrEMBL
    A0A140VKC0
    Conserved Domains (1) summary
    cd04193
    Location:88 → 410
    UDPGlcNAc_PPase; UDPGlcNAc pyrophosphorylase catalayzes the synthesis of UDPGlcNAc

  2. NM_001324114.2 → NP_001311043.1  UDP-N-acetylhexosamine pyrophosphorylase isoform a

    Status: VALIDATED

    Source sequence(s)
    AL596325
    Consensus CDS
    CCDS1240.1
    UniProtKB/TrEMBL
    A0A140VKC0
    Conserved Domains (1) summary
    cd04193
    Location:88 → 410
    UDPGlcNAc_PPase; UDPGlcNAc pyrophosphorylase catalayzes the synthesis of UDPGlcNAc

  3. NM_001324115.3 → NP_001311044.1  UDP-N-acetylhexosamine pyrophosphorylase isoform a

    Status: VALIDATED

    Source sequence(s)
    AL596325
    Consensus CDS
    CCDS1240.1
    UniProtKB/TrEMBL
    A0A140VKC0
    Conserved Domains (1) summary
    cd04193
    Location:88 → 410
    UDPGlcNAc_PPase; UDPGlcNAc pyrophosphorylase catalayzes the synthesis of UDPGlcNAc

  4. NM_001324116.5 → NP_001311045.1  UDP-N-acetylhexosamine pyrophosphorylase isoform b

    Status: VALIDATED

    Source sequence(s)
    AL596325
    Consensus CDS
    CCDS81393.1
    UniProtKB/Swiss-Prot
    B2R6R8, Q16222, Q5VTA9, Q5VTB0, Q5VTB1, Q96GM2
    Related
    ENSP00000356902.1, ENST00000367925.6
    Conserved Domains (1) summary
    cd04193
    Location:88 → 410
    UDPGlcNAc_PPase; UDPGlcNAc pyrophosphorylase catalayzes the synthesis of UDPGlcNAc

  5. NM_001324117.3 → NP_001311046.1  UDP-N-acetylhexosamine pyrophosphorylase isoform c

    Status: VALIDATED

    Source sequence(s)
    AL596325
    UniProtKB/Swiss-Prot
    Q16222
    Conserved Domains (1) summary
    cd04193
    Location:88 → 410
    UDPGlcNAc_PPase; UDPGlcNAc pyrophosphorylase catalayzes the synthesis of UDPGlcNAc

  6. NM_001388401.1 → NP_001375330.1  UDP-N-acetylhexosamine pyrophosphorylase isoform b

    Status: VALIDATED

    Source sequence(s)
    AL596325
    Consensus CDS
    CCDS81393.1
    UniProtKB/Swiss-Prot
    B2R6R8, Q16222, Q5VTA9, Q5VTB0, Q5VTB1, Q96GM2
    Conserved Domains (1) summary
    cd04193
    Location:88 → 410
    UDPGlcNAc_PPase; UDPGlcNAc pyrophosphorylase catalayzes the synthesis of UDPGlcNAc

  7. NM_001388402.1 → NP_001375331.1  UDP-N-acetylhexosamine pyrophosphorylase isoform b

    Status: VALIDATED

    Source sequence(s)
    AL596325
    Consensus CDS
    CCDS81393.1
    UniProtKB/Swiss-Prot
    B2R6R8, Q16222, Q5VTA9, Q5VTB0, Q5VTB1, Q96GM2
    Conserved Domains (1) summary
    cd04193
    Location:88 → 410
    UDPGlcNAc_PPase; UDPGlcNAc pyrophosphorylase catalayzes the synthesis of UDPGlcNAc

  8. NM_001399790.1 → NP_001386719.1  UDP-N-acetylhexosamine pyrophosphorylase isoform a

    Status: VALIDATED

    Source sequence(s)
    AL596325
    Consensus CDS
    CCDS1240.1
    UniProtKB/TrEMBL
    A0A140VKC0

  9. NM_001399791.1 → NP_001386720.1  UDP-N-acetylhexosamine pyrophosphorylase isoform b

    Status: VALIDATED

    Source sequence(s)
    AL596325
    Consensus CDS
    CCDS81393.1
    UniProtKB/Swiss-Prot
    B2R6R8, Q16222, Q5VTA9, Q5VTB0, Q5VTB1, Q96GM2

  10. NM_001399792.1 → NP_001386721.1  UDP-N-acetylhexosamine pyrophosphorylase isoform d

    Status: VALIDATED

    Source sequence(s)
    AL596325

  11. NM_001399793.1 → NP_001386722.1  UDP-N-acetylhexosamine pyrophosphorylase isoform e

    Status: VALIDATED

    Source sequence(s)
    AL596325

  12. NM_003115.6 → NP_003106.3  UDP-N-acetylhexosamine pyrophosphorylase isoform a

    See identical proteins and their annotated locations for NP_003106.3

    Status: VALIDATED

    Source sequence(s)
    AL596325
    Consensus CDS
    CCDS1240.1
    UniProtKB/TrEMBL
    A0A140VKC0
    Related
    ENSP00000356903.4, ENST00000367926.9
    Conserved Domains (1) summary
    cd04193
    Location:88 → 410
    UDPGlcNAc_PPase; UDPGlcNAc pyrophosphorylase catalayzes the synthesis of UDPGlcNAc

RNA

  1. NR_174352.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL596325

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    162561531..162601240
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428845.1 → XP_047284801.1  UDP-N-acetylhexosamine pyrophosphorylase isoform X2

  2. XM_047428848.1 → XP_047284804.1  UDP-N-acetylhexosamine pyrophosphorylase isoform X2

  3. XM_047428843.1 → XP_047284799.1  UDP-N-acetylhexosamine pyrophosphorylase isoform X1

    UniProtKB/Swiss-Prot
    B2R6R8, Q16222, Q5VTA9, Q5VTB0, Q5VTB1, Q96GM2

  4. XM_047428849.1 → XP_047284805.1  UDP-N-acetylhexosamine pyrophosphorylase isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    161905541..161945257
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338460.1 → XP_054194435.1  UDP-N-acetylhexosamine pyrophosphorylase isoform X2

  2. XM_054338461.1 → XP_054194436.1  UDP-N-acetylhexosamine pyrophosphorylase isoform X2

  3. XM_054338459.1 → XP_054194434.1  UDP-N-acetylhexosamine pyrophosphorylase isoform X1

    UniProtKB/Swiss-Prot
    B2R6R8, Q16222, Q5VTA9, Q5VTB0, Q5VTB1, Q96GM2

  4. XM_054338462.1 → XP_054194437.1  UDP-N-acetylhexosamine pyrophosphorylase isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q16222.3 GenPept UniProtKB/Swiss-Prot:Q16222

Gene LinkOut

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