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

Gene ID: 6675, updated on 8-Apr-2026
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 and protein serine pyrophosphorylase activity. Involved in antiviral innate immune response and positive regulation of type I interferon production. Located in nucleoplasm and plasma membrane. Is active in cytosol. [provided by Alliance of Genome Resources, Jul 2025]
Expression
Broad expression in testis (RPKM 52.4), liver (RPKM 41.2) and 25 other tissues See more
Orthologs
all
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Try the new Transcripts and proteins table
See UAP1 in Genome Data Viewer
Location:
1q23.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (162561531..162601240)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (161905541..161945257)
RS_2024_09 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

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. Characterization of a human antigen with sera from infertile patients. Diekman AB, et al. Biol Reprod, 1994 May. PMID 8025165
  2. Expression of the human antigen SPAG2 in the testis and localization to the outer dense fibers in spermatozoa. Diekman AB, et al. Mol Reprod Dev, 1998 Jul. PMID 9621304
  3. 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
  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. UAP1 is overexpressed in prostate cancer and is protective against inhibitors of N-linked glycosylation. Itkonen HM, et al. Oncogene, 2015 Jul. PMID 25241896

See all (45) 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

Review eQTL and phenotype association data in this region using PheGenI

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

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

Products Interactant Other Gene Complex Source Pubs Description

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 UDP-N-acetylglucosamine diphosphorylase activity IEA
Inferred from Electronic Annotation
more info
  
enables UDP-N-acetylglucosamine diphosphorylase activity TAS
Traceable Author Statement
more info
 PubMed 
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 
enables protein serine pyrophosphorylase activity IEA
Inferred from Electronic Annotation
more info
  
enables transferase activity, transferring phosphorus-containing groups IEA
Inferred from Electronic Annotation
more info
  
enables uridylyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
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 UDP-N-acetylglucosamine biosynthetic process TAS
Traceable Author Statement
more info
 PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
  
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 IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
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

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

    Status: VALIDATED

    Source sequence(s)
    AL596325
    Consensus CDS
    CCDS1240.1
    UniProtKB/TrEMBL
    A0A140VKC0
    Related
    ENSP00000568072.1, ENST00000898013.1
    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
    Related
    ENSP00000568068.1, ENST00000898009.1
    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
    Related
    ENSP00000568059.1, ENST00000898000.1
    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
    Related
    ENSP00000568058.1, ENST00000897999.1
    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
    Related
    ENSP00000568061.1, ENST00000898002.1
    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
    Related
    ENSP00000568075.1, ENST00000898016.1
    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
    Related
    ENSP00000568067.1, ENST00000898008.1

  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
    Related
    ENSP00000568063.1, ENST00000898004.1

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

    Status: VALIDATED

    Source sequence(s)
    AL596325
    Related
    ENSP00000568071.1, ENST00000898012.1

  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_2025_08

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

    Related
    ENSP00000613601.1, ENST00000943542.1

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

    UniProtKB/Swiss-Prot
    B2R6R8, Q16222, Q5VTA9, Q5VTB0, Q5VTB1, Q96GM2
    Related
    ENSP00000568065.1, ENST00000898006.1

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

    Related
    ENSP00000568070.1, ENST00000898011.1

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

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

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