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Entry version 179 (07 Apr 2021)
Sequence version 5 (23 Jan 2007)
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Protein

UTP--glucose-1-phosphate uridylyltransferase

Gene

UGP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

UTP--glucose-1-phosphate uridylyltransferase catalyzing the conversion of glucose-1-phosphate into UDP-glucose, a crucial precursor for the production of glycogen.3 Publications

Caution

The human genome was initially thought to contain 2 genes for UTP--glucose-1-phosphate uridylyltransferase: UGP1 and UGP2 (PubMed:8354390, PubMed:8631325). However, the sequence defined as UGP1 (PubMed:8354390) probably does not exist and corresponds to UGP2.2 Publications2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=917 µM for MgUTP1 Publication
  2. KM=404 µM for Glc1P1 Publication
  3. KM=63 µM for UDP-Glc1 Publication
  4. KM=384 µM for MgPPi1 Publication
    1. KM=301 µM for MgUTP1 Publication
    2. KM=207 µM for Glc1P1 Publication
    3. KM=41 µM for UDP-Glc1 Publication

      <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: glycogen biosynthesis

      This protein is involved in the pathway glycogen biosynthesis, which is part of Glycan biosynthesis.1 Publication
      View all proteins of this organism that are known to be involved in the pathway glycogen biosynthesis and in Glycan biosynthesis.

      Sites

      Feature keyPosition(s)DescriptionActionsGraphical viewLength
      <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi127MagnesiumBy similarity1
      <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei127UTPBy similarity1
      Binding sitei190UTPBy similarity1
      Binding sitei222UTP; via amide nitrogenBy similarity1
      Binding sitei223SubstrateCombined sources1 Publication1
      Metal bindingi253MagnesiumBy similarity1
      Binding sitei253UTPBy similarity1
      Binding sitei330SubstrateCombined sources1 Publication1
      <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei396By similarity1
      Binding sitei396UTPBy similarity1

      <p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

      GO - Biological processi

      <p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

      Molecular functionNucleotidyltransferase, Transferase
      LigandMagnesium, Metal-binding

      Enzyme and pathway databases

      BioCyc Collection of Pathway/Genome Databases

      More...
      BioCyci
      MetaCyc:HS10006-MONOMER

      BRENDA Comprehensive Enzyme Information System

      More...
      BRENDAi
      2.7.7.9, 2681

      Pathway Commons web resource for biological pathway data

      More...
      PathwayCommonsi
      Q16851

      Reactome - a knowledgebase of biological pathways and processes

      More...
      Reactomei
      R-HSA-173599, Formation of the active cofactor, UDP-glucuronate
      R-HSA-3322077, Glycogen synthesis

      SABIO-RK: Biochemical Reaction Kinetics Database

      More...
      SABIO-RKi
      Q16851

      UniPathway: a resource for the exploration and annotation of metabolic pathways

      More...
      UniPathwayi
      UPA00164

      <p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

      <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
      Recommended name:
      UTP--glucose-1-phosphate uridylyltransferase1 Publication (EC:2.7.7.93 Publications)
      Alternative name(s):
      UDP-glucose pyrophosphorylase
      Short name:
      UDPGP
      Short name:
      UGPase
      <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
      Name:UGP2Imported
      Synonyms:UGP1Imported
      <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
      <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
      <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
      <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
      • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

      Organism-specific databases

      Human Gene Nomenclature Database

      More...
      HGNCi
      HGNC:12527, UGP2

      Online Mendelian Inheritance in Man (OMIM)

      More...
      MIMi
      191750, gene
      191760, gene

      neXtProt; the human protein knowledge platform

      More...
      neXtProti
      NX_Q16851

      Eukaryotic Pathogen, Vector and Host Database Resources

      More...
      VEuPathDBi
      HostDB:ENSG00000169764.14

      <p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

      Keywords - Cellular componenti

      Cytoplasm

      <p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

      <p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

      Developmental and epileptic encephalopathy 83 (DEE83)1 Publication
      The disease is caused by variants affecting the gene represented in this entry. A recurrent, pathogenic variant affecting the translation initiation codon of isoform 2 has been found in multiple DEE83 families. The variant results in the absence of isoform 2 and leads to reduced levels of functional UGP2 enzyme in neural stem cells. The absence of isoform 2 is compensated by an increased abundance of a functional isoform 1, carrying variant p.Met12Val, which may explain the survival of the patients. A complete absence of functional UGP2 in all cells would be embryonic lethal.1 Publication
      Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE83 is an autosomal recessive form characterized by onset of frequent, intractable seizures in the first days to months of life. Affected individuals have profound developmental delay with no motor or language skill acquisition, and poor or absent visual tracking. Many patients die in the first years of life.
      Related information in OMIM
      Feature keyPosition(s)DescriptionActionsGraphical viewLength
      <p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08374612M → V in DEE83; the nucleotide substitution also alters the translation of other alternatively spliced products of the gene globally reducing functional enzyme levels and causing reduced synthesis of UDP-glucose and decreased glycogen biosynthetic process; no effect on protein localization; no effect on UTP:glucose-1-phosphate uridylyltransferase activity. 1 PublicationCorresponds to variant dbSNP:rs768305634Ensembl.1

      Mutagenesis

      Feature keyPosition(s)DescriptionActionsGraphical viewLength
      <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi123C → S: No significant loss of activity. 1 Publication1
      Mutagenesisi218W → S: No significant loss of activity. 1 Publication1
      Mutagenesisi266H → R: No significant loss of activity. 1 Publication1
      Mutagenesisi333W → S: Loss of activity; possibly due to folding defect. 1 Publication1
      Mutagenesisi389R → H: No significant loss of activity. 1 Publication1
      Mutagenesisi391R → H: Loss of activity; possibly due to folding defect. 1 Publication1
      Mutagenesisi422R → H: No significant loss of activity. 1 Publication1
      Mutagenesisi445R → H: No significant loss of activity. 1 Publication1
      Mutagenesisi502 – 503NL → PE: Abolishes oligomerization and significantly increases enzymatic activity. 1 Publication2

      Keywords - Diseasei

      Disease variant, Epilepsy

      Organism-specific databases

      DisGeNET

      More...
      DisGeNETi
      7360

      MalaCards human disease database

      More...
      MalaCardsi
      UGP2
      MIMi618744, phenotype

      Open Targets

      More...
      OpenTargetsi
      ENSG00000169764

      The Pharmacogenetics and Pharmacogenomics Knowledge Base

      More...
      PharmGKBi
      PA37172

      Miscellaneous databases

      Pharos NIH Druggable Genome Knowledgebase

      More...
      Pharosi
      Q16851, Tbio

      Genetic variation databases

      BioMuta curated single-nucleotide variation and disease association database

      More...
      BioMutai
      UGP2

      Domain mapping of disease mutations (DMDM)

      More...
      DMDMi
      59803098

      <p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

      Molecule processing

      Feature keyPosition(s)DescriptionActionsGraphical viewLength
      <p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001857521 – 508UTP--glucose-1-phosphate uridylyltransferaseAdd BLAST508
      Isoform 2 (identifier: Q16851-2)
      <p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources

      Amino acid modifications

      Feature keyPosition(s)DescriptionActionsGraphical viewLength
      <p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei13PhosphoserineCombined sources1
      Modified residuei426PhosphothreonineCombined sources1
      Modified residuei434PhosphoserineCombined sources1
      Modified residuei438N6-acetyllysineCombined sources1
      Modified residuei448PhosphoserineCombined sources1
      Modified residuei461PhosphoserineCombined sources1
      Isoform 2 (identifier: Q16851-2)
      Modified residuei2N-acetylserineCombined sources1
      Modified residuei2PhosphoserineCombined sources1

      Keywords - PTMi

      Acetylation, Phosphoprotein

      Proteomic databases

      The CPTAC Assay portal

      More...
      CPTACi
      CPTAC-291
      CPTAC-292

      Encyclopedia of Proteome Dynamics

      More...
      EPDi
      Q16851

      jPOST - Japan Proteome Standard Repository/Database

      More...
      jPOSTi
      Q16851

      MassIVE - Mass Spectrometry Interactive Virtual Environment

      More...
      MassIVEi
      Q16851

      MaxQB - The MaxQuant DataBase

      More...
      MaxQBi
      Q16851

      PaxDb, a database of protein abundance averages across all three domains of life

      More...
      PaxDbi
      Q16851

      PeptideAtlas

      More...
      PeptideAtlasi
      Q16851

      PRoteomics IDEntifications database

      More...
      PRIDEi
      Q16851

      ProteomicsDB: a multi-organism proteome resource

      More...
      ProteomicsDBi
      61103 [Q16851-1]
      61104 [Q16851-2]

      2D gel databases

      REPRODUCTION-2DPAGE

      More...
      REPRODUCTION-2DPAGEi
      IPI00395676

      University College Dublin 2-DE Proteome Database

      More...
      UCD-2DPAGEi
      Q16851

      PTM databases

      iPTMnet integrated resource for PTMs in systems biology context

      More...
      iPTMneti
      Q16851

      MetOSite database of methionine sulfoxide sites

      More...
      MetOSitei
      Q16851

      Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

      More...
      PhosphoSitePlusi
      Q16851

      SwissPalm database of S-palmitoylation events

      More...
      SwissPalmi
      Q16851

      <p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

      <p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

      Highly expressed in various brain regions. Expressed in amygdala, anterior cingulate cortex, caudate, cerebellar hemisphere, cerebellum, cortex, frontal cortex, hippocampus, hypothalamus, nucleus accumbens, putamen, spinal cord and substantia nigra (PubMed:31820119). Also widely expressed among other tissues, including liver, heart, placenta, lung, kidney, pancreas and skeletal muscle (PubMed:8354390, PubMed:8631325).3 Publications

      <p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

      Predominantly expressed in developing brain (PubMed:31820119). Preferentially expressed in the developing cortex and cerebellum from gestational weeks 14, 20 and 28 and in the frontal cortex of brains from weeks 21 and 23 (at protein level) (PubMed:31820119).1 Publication

      Gene expression databases

      Bgee dataBase for Gene Expression Evolution

      More...
      Bgeei
      ENSG00000169764, Expressed in adipose tissue and 246 other tissues

      ExpressionAtlas, Differential and Baseline Expression

      More...
      ExpressionAtlasi
      Q16851, baseline and differential

      Genevisible search portal to normalized and curated expression data from Genevestigator

      More...
      Genevisiblei
      Q16851, HS

      Organism-specific databases

      Human Protein Atlas

      More...
      HPAi
      ENSG00000169764, Tissue enhanced (liver)

      <p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

      <p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

      Homooctamer.

      1 Publication

      <p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

      Hide details

      GO - Molecular functioni

      Protein-protein interaction databases

      The Biological General Repository for Interaction Datasets (BioGRID)

      More...
      BioGRIDi
      113207, 69 interactors

      Protein interaction database and analysis system

      More...
      IntActi
      Q16851, 18 interactors

      Molecular INTeraction database

      More...
      MINTi
      Q16851

      STRING: functional protein association networks

      More...
      STRINGi
      9606.ENSP00000338703

      Miscellaneous databases

      RNAct, Protein-RNA interaction predictions for model organisms.

      More...
      RNActi
      Q16851, protein

      <p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

      Secondary structure

      1508
      Legend: HelixTurnBeta strandPDB Structure known for this area
      Show more details

      3D structure databases

      SWISS-MODEL Repository - a database of annotated 3D protein structure models

      More...
      SMRi
      Q16851

      Database of comparative protein structure models

      More...
      ModBasei
      Search...

      Protein Data Bank in Europe - Knowledge Base

      More...
      PDBe-KBi
      Search...

      <p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

      Region

      Feature keyPosition(s)DescriptionActionsGraphical viewLength
      <p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni113 – 116UTP bindingBy similarity4
      Regioni115 – 116Substrate bindingCombined sources1 Publication2
      Regioni251 – 253Substrate bindingCombined sources1 Publication3
      Regioni457 – 508OligomerizationAdd BLAST52
      Regioni502 – 503Critical for end-to-end subunit interaction2

      <p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

      Belongs to the UDPGP type 1 family.Curated

      Phylogenomic databases

      evolutionary genealogy of genes: Non-supervised Orthologous Groups

      More...
      eggNOGi
      KOG2638, Eukaryota

      Ensembl GeneTree

      More...
      GeneTreei
      ENSGT00940000153464

      The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

      More...
      HOGENOMi
      CLU_023632_3_0_1

      InParanoid: Eukaryotic Ortholog Groups

      More...
      InParanoidi
      Q16851

      Database of Orthologous Groups

      More...
      OrthoDBi
      503037at2759

      Database for complete collections of gene phylogenies

      More...
      PhylomeDBi
      Q16851

      TreeFam database of animal gene trees

      More...
      TreeFami
      TF300567

      Family and domain databases

      Conserved Domains Database

      More...
      CDDi
      cd00897, UGPase_euk, 1 hit

      Gene3D Structural and Functional Annotation of Protein Families

      More...
      Gene3Di
      3.90.550.10, 1 hit

      Integrated resource of protein families, domains and functional sites

      More...
      InterProi
      View protein in InterPro
      IPR029044, Nucleotide-diphossugar_trans
      IPR002618, UDPGP_fam
      IPR016267, UDPGP_trans

      Pfam protein domain database

      More...
      Pfami
      View protein in Pfam
      PF01704, UDPGP, 1 hit

      PIRSF; a whole-protein classification database

      More...
      PIRSFi
      PIRSF000806, UDPGP, 1 hit

      Superfamily database of structural and functional annotation

      More...
      SUPFAMi
      SSF53448, SSF53448, 1 hit

      <p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

      <p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

      <p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

      This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

      This entry has 2 described isoforms and 19 potential isoforms that are computationally mapped.Show allAlign All

      Isoform 1 (identifier: Q16851-1) [UniParc]FASTAAdd to basket
      Also known as: Muscle-II1 Publication, long1 Publication

      This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

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      MSRFVQDLSK AMSQDGASQF QEVIRQELEL SVKKELEKIL TTASSHEFEH
      60 70 80 90 100
      TKKDLDGFRK LFHRFLQEKG PSVDWGKIQR PPEDSIQPYE KIKARGLPDN
      110 120 130 140 150
      ISSVLNKLVV VKLNGGLGTS MGCKGPKSLI GVRNENTFLD LTVQQIEHLN
      160 170 180 190 200
      KTYNTDVPLV LMNSFNTDED TKKILQKYNH CRVKIYTFNQ SRYPRINKES
      210 220 230 240 250
      LLPVAKDVSY SGENTEAWYP PGHGDIYASF YNSGLLDTFI GEGKEYIFVS
      260 270 280 290 300
      NIDNLGATVD LYILNHLMNP PNGKRCEFVM EVTNKTRADV KGGTLTQYEG
      310 320 330 340 350
      KLRLVEIAQV PKAHVDEFKS VSKFKIFNTN NLWISLAAVK RLQEQNAIDM
      360 370 380 390 400
      EIIVNAKTLD GGLNVIQLET AVGAAIKSFE NSLGINVPRS RFLPVKTTSD
      410 420 430 440 450
      LLLVMSNLYS LNAGSLTMSE KREFPTVPLV KLGSSFTKVQ DYLRRFESIP
      460 470 480 490 500
      DMLELDHLTV SGDVTFGKNV SLKGTVIIIA NHGDRIDIPP GAVLENKIVS

      GNLRILDH
      Length:508
      Mass (Da):56,940
      Last modified:January 23, 2007 - v5
      <p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i60E54806807AB470
      GO
      Isoform 2 (identifier: Q16851-2) [UniParc]FASTAAdd to basket
      Also known as: Muscle-I1 Publication, short1 Publication

      The sequence of this isoform differs from the canonical sequence as follows:
           1-11: Missing.

      Show »
      Length:497
      Mass (Da):55,677
      Checksum:i2B3FD9731E371E47
      GO

      <p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

      There are 19 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
      EntryEntry nameProtein names
      Gene namesLengthAnnotation
      E7EUC7E7EUC7_HUMAN
      UTP--glucose-1-phosphate uridylyltr...
      UGP2
      517Annotation score:

      Annotation score:3 out of 5

      <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
      A0A087WYS1A0A087WYS1_HUMAN
      UTP--glucose-1-phosphate uridylyltr...
      UGP2
      463Annotation score:

      Annotation score:2 out of 5

      <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
      C9JNZ1C9JNZ1_HUMAN
      UTP--glucose-1-phosphate uridylyltr...
      UGP2
      212Annotation score:

      Annotation score:1 out of 5

      <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
      C9JQU9C9JQU9_HUMAN
      UTP--glucose-1-phosphate uridylyltr...
      UGP2
      175Annotation score:

      Annotation score:1 out of 5

      <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
      C9JTZ5C9JTZ5_HUMAN
      UTP--glucose-1-phosphate uridylyltr...
      UGP2
      104Annotation score:

      Annotation score:1 out of 5

      <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
      C9JUW1C9JUW1_HUMAN
      UTP--glucose-1-phosphate uridylyltr...
      UGP2
      135Annotation score:

      Annotation score:1 out of 5

      <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
      C9JWG0C9JWG0_HUMAN
      UTP--glucose-1-phosphate uridylyltr...
      UGP2
      150Annotation score:

      Annotation score:1 out of 5

      <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
      C9JVG3C9JVG3_HUMAN
      UTP--glucose-1-phosphate uridylyltr...
      UGP2
      170Annotation score:

      Annotation score:1 out of 5

      <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
      C9J6Q0C9J6Q0_HUMAN
      UTP--glucose-1-phosphate uridylyltr...
      UGP2
      60Annotation score:

      Annotation score:1 out of 5

      <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
      C9J3M0C9J3M0_HUMAN
      UTP--glucose-1-phosphate uridylyltr...
      UGP2
      38Annotation score:

      Annotation score:1 out of 5

      <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
      There are more potential isoformsShow all

      Experimental Info

      Feature keyPosition(s)DescriptionActionsGraphical viewLength
      <p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti25R → L (PubMed:8354390).Curated1
      Sequence conflicti44S → T (PubMed:8354390).Curated1
      Sequence conflicti48F → Y (PubMed:8354390).Curated1
      Sequence conflicti62F → Y (PubMed:8354390).Curated1
      Sequence conflicti152T → S (PubMed:8354390).Curated1
      Sequence conflicti202L → R (PubMed:8354390).Curated1
      Sequence conflicti202L → R in AAB05640 (PubMed:8631325).Curated1
      Sequence conflicti210Y → S (PubMed:8354390).Curated1
      Sequence conflicti214N → S (PubMed:8354390).Curated1
      Sequence conflicti240 – 241IG → LE (PubMed:8354390).Curated2
      Sequence conflicti356A → P (PubMed:8354390).Curated1

      Natural variant

      Feature keyPosition(s)DescriptionActionsGraphical viewLength
      Natural variantiVAR_08374612M → V in DEE83; the nucleotide substitution also alters the translation of other alternatively spliced products of the gene globally reducing functional enzyme levels and causing reduced synthesis of UDP-glucose and decreased glycogen biosynthetic process; no effect on protein localization; no effect on UTP:glucose-1-phosphate uridylyltransferase activity. 1 PublicationCorresponds to variant dbSNP:rs768305634Ensembl.1
      Natural variantiVAR_033042268M → I2 PublicationsCorresponds to variant dbSNP:rs1130982Ensembl.1

      Alternative sequence

      Feature keyPosition(s)DescriptionActionsGraphical viewLength
      <p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0128341 – 11Missing in isoform 2. 2 PublicationsAdd BLAST11

      Sequence databases

      Select the link destinations:

      EMBL nucleotide sequence database

      More...
      EMBLi

      GenBank nucleotide sequence database

      More...
      GenBanki

      DNA Data Bank of Japan; a nucleotide sequence database

      More...
      DDBJi
      Links Updated
      U27460 mRNA Translation: AAB05640.1
      BC000173 mRNA Translation: AAH00173.2
      BC002954 mRNA Translation: AAH02954.1
      BC047004 mRNA Translation: AAH47004.1

      The Consensus CDS (CCDS) project

      More...
      CCDSi
      CCDS1875.1 [Q16851-1]
      CCDS42690.1 [Q16851-2]

      Protein sequence database of the Protein Information Resource

      More...
      PIRi
      S35692

      NCBI Reference Sequences

      More...
      RefSeqi
      NP_001001521.1, NM_001001521.1 [Q16851-2]
      NP_006750.3, NM_006759.3 [Q16851-1]
      XP_005264594.1, XM_005264537.2
      XP_005264595.1, XM_005264538.1

      Genome annotation databases

      Ensembl eukaryotic genome annotation project

      More...
      Ensembli
      ENST00000337130; ENSP00000338703; ENSG00000169764 [Q16851-1]
      ENST00000394417; ENSP00000377939; ENSG00000169764 [Q16851-2]
      ENST00000467648; ENSP00000420793; ENSG00000169764 [Q16851-2]

      Database of genes from NCBI RefSeq genomes

      More...
      GeneIDi
      7360

      KEGG: Kyoto Encyclopedia of Genes and Genomes

      More...
      KEGGi
      hsa:7360

      UCSC genome browser

      More...
      UCSCi
      uc002scl.4, human [Q16851-1]

      Keywords - Coding sequence diversityi

      Alternative splicing

      <p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

      <p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

      Sequence databases

      Select the link destinations:
      EMBLi
      GenBanki
      DDBJi
      Links Updated
      U27460 mRNA Translation: AAB05640.1
      BC000173 mRNA Translation: AAH00173.2
      BC002954 mRNA Translation: AAH02954.1
      BC047004 mRNA Translation: AAH47004.1
      CCDSiCCDS1875.1 [Q16851-1]
      CCDS42690.1 [Q16851-2]
      PIRiS35692
      RefSeqiNP_001001521.1, NM_001001521.1 [Q16851-2]
      NP_006750.3, NM_006759.3 [Q16851-1]
      XP_005264594.1, XM_005264537.2
      XP_005264595.1, XM_005264538.1

      3D structure databases

      Select the link destinations:

      Protein Data Bank Europe

      More...
      PDBei

      Protein Data Bank RCSB

      More...
      RCSB PDBi

      Protein Data Bank Japan

      More...
      PDBji
      Links Updated
      PDB entryMethodResolution (Å)ChainPositionsPDBsum
      3R2WX-ray3.60A/B/C/D1-508[»]
      3R3IX-ray3.57A/B/C/D1-508[»]
      4R7PX-ray3.35A/B/C/D2-508[»]
      SMRiQ16851
      ModBaseiSearch...
      PDBe-KBiSearch...

      Protein-protein interaction databases

      BioGRIDi113207, 69 interactors
      IntActiQ16851, 18 interactors
      MINTiQ16851
      STRINGi9606.ENSP00000338703

      PTM databases

      iPTMnetiQ16851
      MetOSiteiQ16851
      PhosphoSitePlusiQ16851
      SwissPalmiQ16851

      Genetic variation databases

      BioMutaiUGP2
      DMDMi59803098

      2D gel databases

      REPRODUCTION-2DPAGEiIPI00395676
      UCD-2DPAGEiQ16851

      Proteomic databases

      CPTACiCPTAC-291
      CPTAC-292
      EPDiQ16851
      jPOSTiQ16851
      MassIVEiQ16851
      MaxQBiQ16851
      PaxDbiQ16851
      PeptideAtlasiQ16851
      PRIDEiQ16851
      ProteomicsDBi61103 [Q16851-1]
      61104 [Q16851-2]

      Protocols and materials databases

      Antibodypedia a portal for validated antibodies

      More...
      Antibodypediai
      30782, 204 antibodies

      The DNASU plasmid repository

      More...
      DNASUi
      7360

      Genome annotation databases

      EnsembliENST00000337130; ENSP00000338703; ENSG00000169764 [Q16851-1]
      ENST00000394417; ENSP00000377939; ENSG00000169764 [Q16851-2]
      ENST00000467648; ENSP00000420793; ENSG00000169764 [Q16851-2]
      GeneIDi7360
      KEGGihsa:7360
      UCSCiuc002scl.4, human [Q16851-1]

      Organism-specific databases

      Comparative Toxicogenomics Database

      More...
      CTDi
      7360
      DisGeNETi7360

      GeneCards: human genes, protein and diseases

      More...
      GeneCardsi
      UGP2
      HGNCiHGNC:12527, UGP2
      HPAiENSG00000169764, Tissue enhanced (liver)
      MalaCardsiUGP2
      MIMi191750, gene
      191760, gene
      618744, phenotype
      neXtProtiNX_Q16851
      OpenTargetsiENSG00000169764
      PharmGKBiPA37172
      VEuPathDBiHostDB:ENSG00000169764.14

      GenAtlas: human gene database

      More...
      GenAtlasi
      Search...

      Phylogenomic databases

      eggNOGiKOG2638, Eukaryota
      GeneTreeiENSGT00940000153464
      HOGENOMiCLU_023632_3_0_1
      InParanoidiQ16851
      OrthoDBi503037at2759
      PhylomeDBiQ16851
      TreeFamiTF300567

      Enzyme and pathway databases

      UniPathwayiUPA00164
      BioCyciMetaCyc:HS10006-MONOMER
      BRENDAi2.7.7.9, 2681
      PathwayCommonsiQ16851
      ReactomeiR-HSA-173599, Formation of the active cofactor, UDP-glucuronate
      R-HSA-3322077, Glycogen synthesis
      SABIO-RKiQ16851

      Miscellaneous databases

      BioGRID ORCS database of CRISPR phenotype screens

      More...
      BioGRID-ORCSi
      7360, 113 hits in 998 CRISPR screens

      ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

      More...
      ChiTaRSi
      UGP2, human

      Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

      More...
      GenomeRNAii
      7360
      PharosiQ16851, Tbio

      Protein Ontology

      More...
      PROi
      PR:Q16851
      RNActiQ16851, protein

      The Stanford Online Universal Resource for Clones and ESTs

      More...
      SOURCEi
      Search...

      Gene expression databases

      BgeeiENSG00000169764, Expressed in adipose tissue and 246 other tissues
      ExpressionAtlasiQ16851, baseline and differential
      GenevisibleiQ16851, HS

      Family and domain databases

      CDDicd00897, UGPase_euk, 1 hit
      Gene3Di3.90.550.10, 1 hit
      InterProiView protein in InterPro
      IPR029044, Nucleotide-diphossugar_trans
      IPR002618, UDPGP_fam
      IPR016267, UDPGP_trans
      PfamiView protein in Pfam
      PF01704, UDPGP, 1 hit
      PIRSFiPIRSF000806, UDPGP, 1 hit
      SUPFAMiSSF53448, SSF53448, 1 hit

      ProtoNet; Automatic hierarchical classification of proteins

      More...
      ProtoNeti
      Search...

      MobiDB: a database of protein disorder and mobility annotations

      More...
      MobiDBi
      Search...

      <p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

      <p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiUGPA_HUMAN
      <p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q16851
      Secondary accession number(s): Q07131
      , Q0P6K2, Q86Y81, Q9BU15
      <p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
      Last sequence update: January 23, 2007
      Last modified: April 7, 2021
      This is version 179 of the entry and version 5 of the sequence. See complete history.
      <p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
      Annotation programChordata Protein Annotation Program
      DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

      <p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

      Keywords - Technical termi

      3D-structure, Reference proteome

      Documents

      1. Human chromosome 2
        Human chromosome 2: entries, gene names and cross-references to MIM
      2. Human entries with genetic variants
        List of human entries with genetic variants
      3. Human variants curated from literature reports
        Index of human variants curated from literature reports
      4. MIM cross-references
        Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
      5. PATHWAY comments
        Index of metabolic and biosynthesis pathways
      6. PDB cross-references
        Index of Protein Data Bank (PDB) cross-references
      7. SIMILARITY comments
        Index of protein domains and families
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