UGP2

Protein identityUniProt · HPA

UniProt accession

Q16851

Gene

UGP2

Ensembl

ENSG00000169764

Chromosome

2

Canonical length

508 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Centrosome,Mitochondria

Quaternary structure

Homooctamer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

508 residues, UniProt reviewed canonical sequence.

>Q16851|UGP2
     1  MSRFVQDLSK AMSQDGASQF QEVIRQELEL SVKKELEKIL TTASSHEFEH TKKDLDGFRK
    61  LFHRFLQEKG PSVDWGKIQR PPEDSIQPYE KIKARGLPDN ISSVLNKLVV VKLNGGLGTS
   121  MGCKGPKSLI GVRNENTFLD LTVQQIEHLN KTYNTDVPLV LMNSFNTDED TKKILQKYNH
   181  CRVKIYTFNQ SRYPRINKES LLPVAKDVSY SGENTEAWYP PGHGDIYASF YNSGLLDTFI
   241  GEGKEYIFVS NIDNLGATVD LYILNHLMNP PNGKRCEFVM EVTNKTRADV KGGTLTQYEG
   301  KLRLVEIAQV PKAHVDEFKS VSKFKIFNTN NLWISLAAVK RLQEQNAIDM EIIVNAKTLD
   361  GGLNVIQLET AVGAAIKSFE NSLGINVPRS RFLPVKTTSD LLLVMSNLYS LNAGSLTMSE
   421  KREFPTVPLV KLGSSFTKVQ DYLRRFESIP DMLELDHLTV SGDVTFGKNV SLKGTVIIIA
   481  NHGDRIDIPP GAVLENKIVS GNLRILDH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against UGP2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.26

Highest tissue expression

803 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about UGP2.

Disease | AllUniProt

Conditions UGP2 is implicated in, by any mechanism.

• Developmental and epileptic encephalopathy 83 (DEE83) MIM:618744

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 90 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Developmental and epileptic encephalopathy, 83
• D-6618

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.12

gnomAD pLI

0

gnomAD missense Z

1.93

DepMap mean gene effect

-0.33

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• brain development
• glycogen biosynthetic process
• glycogen metabolic process
• UDP-alpha-D-glucose metabolic process
• UDP-glucuronate biosynthetic process
• glucose 1-phosphate metabolic process

Molecular functions

• D-glucose binding
• identical protein binding
• metal ion binding
• pyrimidine ribonucleotide binding
• UTP:glucose-1-phosphate uridylyltransferase activity

Cellular components

• cytoplasm
• cytosol
• extracellular exosome
• nucleus

Protein domainsUniProt · Pfam · InterPro

• UDPGP family
• Nucleotide-diphospho-sugar transferases
• UTP--glucose-1-phosphate uridylyltransferase
• UTP--glucose-1-phosphate uridylyltransferase

KeywordsUniProt

• Acetylation
• Cytoplasm
• Epilepsy
• Magnesium
• Metal-binding
• Nucleotidyltransferase
• Phosphoprotein
• Transferase