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UGP2 UDP-glucose pyrophosphorylase 2 [ Homo sapiens (human) ]

Gene ID: 7360, updated on 8-Jul-2021

Summary

Official Symbol
UGP2provided by HGNC
Official Full Name
UDP-glucose pyrophosphorylase 2provided by HGNC
Primary source
HGNC:HGNC:12527
See related
Ensembl:ENSG00000169764 MIM:191760
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
UDPG; UGP1; DEE83; UDPGP; UGPP1; UGPP2; EIEE83; SVUGP2; UDPGP2; pHC379
Summary
The enzyme encoded by this gene is an important intermediary in mammalian carbohydrate interconversions. It transfers a glucose moiety from glucose-1-phosphate to MgUTP and forms UDP-glucose and MgPPi. In liver and muscle tissue, UDP-glucose is a direct precursor of glycogen; in lactating mammary gland it is converted to UDP-galactose which is then converted to lactose. The eukaryotic enzyme has no significant sequence similarity to the prokaryotic enzyme. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in liver (RPKM 142.1), fat (RPKM 136.8) and 25 other tissues See more
Orthologs
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Genomic context

See UGP2 in Genome Data Viewer
Location:
2p15
Exon count:
16
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (63840969..63891562)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (64068103..64118694)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 66 Neighboring gene CS pseudogene 1 Neighboring gene VPS54 subunit of GARP complex Neighboring gene pellino E3 ubiquitin protein ligase 1

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

Associated conditions

Description Tests
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
GeneReviews: Not available
Developmental and epileptic encephalopathy, 83
MedGen: C5231487 OMIM: 618744 GeneReviews: Not available
not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables UTP:glucose-1-phosphate uridylyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables UTP:glucose-1-phosphate uridylyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables UTP:glucose-1-phosphate uridylyltransferase activity TAS
Traceable Author Statement
more info
PubMed 
enables glucose binding IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables pyrimidine ribonucleotide binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in UDP-glucose metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in UDP-glucose metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in UDP-glucose metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in brain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in glucose 1-phosphate metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in glycogen biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in glycogen biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in glycogen metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in nucleus HDA PubMed 

General protein information

Preferred Names
UTP--glucose-1-phosphate uridylyltransferase
Names
UDP-glucose diphosphorylase
UDP-glucose pyrophosphorylase 1
UGPase 2
UTP--glucose-1-phosphate uridylyltransferase 2
UTP-glucose-1-phosphate uridyltransferase
Uridyl diphosphate glucose pyrophosphorylase-1
testis tissue sperm-binding protein Li 58p
uridyl diphosphate glucose pyrophosphorylase 2
NP_001001521.1
NP_001364453.1
NP_001364454.1
NP_001364455.1
NP_001364456.1
NP_001364457.1
NP_001364458.1
NP_006750.3
XP_016860345.1
XP_016860346.1
XP_024308888.1
XP_024308890.1
XP_024308891.1
XP_024308892.1

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_001001521.2NP_001001521.1  UTP--glucose-1-phosphate uridylyltransferase isoform b

    See identical proteins and their annotated locations for NP_001001521.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AC092588, AC114748
    Consensus CDS
    CCDS42690.1
    UniProtKB/Swiss-Prot
    Q16851
    UniProtKB/TrEMBL
    A0A140VKE1
    Related
    ENSP00000377939.2, ENST00000394417.7
    Conserved Domains (1) summary
    pfam01704
    Location:44462
    UDPGP; UTP--glucose-1-phosphate uridylyltransferase
  2. NM_001377524.1NP_001364453.1  UTP--glucose-1-phosphate uridylyltransferase isoform b

    Status: REVIEWED

    Source sequence(s)
    AC092588, AC114748
    Conserved Domains (1) summary
    pfam01704
    Location:44462
    UDPGP; UTP--glucose-1-phosphate uridylyltransferase
  3. NM_001377525.1NP_001364454.1  UTP--glucose-1-phosphate uridylyltransferase isoform b

    Status: REVIEWED

    Source sequence(s)
    AC092588, AC114748
    Related
    ENSP00000420793.2, ENST00000467648.6
    Conserved Domains (1) summary
    pfam01704
    Location:44462
    UDPGP; UTP--glucose-1-phosphate uridylyltransferase
  4. NM_001377526.1NP_001364455.1  UTP--glucose-1-phosphate uridylyltransferase isoform c

    Status: REVIEWED

    Source sequence(s)
    AC092588, AC114748
    Conserved Domains (1) summary
    pfam01704
    Location:1353
    UDPGP; UTP--glucose-1-phosphate uridylyltransferase
  5. NM_001377527.1NP_001364456.1  UTP--glucose-1-phosphate uridylyltransferase isoform c

    Status: REVIEWED

    Source sequence(s)
    AC092588, AC114748
    Conserved Domains (1) summary
    pfam01704
    Location:1353
    UDPGP; UTP--glucose-1-phosphate uridylyltransferase
  6. NM_001377528.1NP_001364457.1  UTP--glucose-1-phosphate uridylyltransferase isoform c

    Status: REVIEWED

    Source sequence(s)
    AC092588, AC114748
    Conserved Domains (1) summary
    pfam01704
    Location:1353
    UDPGP; UTP--glucose-1-phosphate uridylyltransferase
  7. NM_001377529.1NP_001364458.1  UTP--glucose-1-phosphate uridylyltransferase isoform c

    Status: REVIEWED

    Source sequence(s)
    AC092588, AC114748
    Conserved Domains (1) summary
    pfam01704
    Location:1353
    UDPGP; UTP--glucose-1-phosphate uridylyltransferase
  8. NM_006759.4NP_006750.3  UTP--glucose-1-phosphate uridylyltransferase isoform a

    See identical proteins and their annotated locations for NP_006750.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AC092588, AC114748
    Consensus CDS
    CCDS1875.1
    UniProtKB/Swiss-Prot
    Q16851
    Related
    ENSP00000338703.5, ENST00000337130.10
    Conserved Domains (1) summary
    pfam01704
    Location:55473
    UDPGP; UTP--glucose-1-phosphate uridylyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    63840969..63891562
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004857.2XP_016860346.1  UTP--glucose-1-phosphate uridylyltransferase isoform X2

    Conserved Domains (1) summary
    pfam01704
    Location:1353
    UDPGP; UTP--glucose-1-phosphate uridylyltransferase
  2. XM_017004856.1XP_016860345.1  UTP--glucose-1-phosphate uridylyltransferase isoform X2

    Conserved Domains (1) summary
    pfam01704
    Location:1353
    UDPGP; UTP--glucose-1-phosphate uridylyltransferase
  3. XM_024453122.1XP_024308890.1  UTP--glucose-1-phosphate uridylyltransferase isoform X2

    Conserved Domains (1) summary
    pfam01704
    Location:1353
    UDPGP; UTP--glucose-1-phosphate uridylyltransferase
  4. XM_024453120.1XP_024308888.1  UTP--glucose-1-phosphate uridylyltransferase isoform X1

    Related
    ENSP00000411803.2, ENST00000445915.6
    Conserved Domains (1) summary
    pfam01704
    Location:44462
    UDPGP; UTP--glucose-1-phosphate uridylyltransferase
  5. XM_024453123.1XP_024308891.1  UTP--glucose-1-phosphate uridylyltransferase isoform X2

    Conserved Domains (1) summary
    pfam01704
    Location:1353
    UDPGP; UTP--glucose-1-phosphate uridylyltransferase
  6. XM_024453124.1XP_024308892.1  UTP--glucose-1-phosphate uridylyltransferase isoform X2

    Conserved Domains (1) summary
    pfam01704
    Location:1353
    UDPGP; UTP--glucose-1-phosphate uridylyltransferase
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