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Entry version 181 (29 Sep 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_section">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_section">'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_section">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_section">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_section">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

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BioCyci
MetaCyc:HS10006-MONOMER

BRENDA Comprehensive Enzyme Information System

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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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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)

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MIMi
191750, gene
191760, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q16851

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000169764

<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_and_biotech_section">'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

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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_processing_section">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

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EPDi
Q16851

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q16851

MassIVE - Mass Spectrometry Interactive Virtual Environment

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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

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PRIDEi
Q16851

ProteomicsDB: a multi-organism proteome resource

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

2D gel databases

REPRODUCTION-2DPAGE

More...
REPRODUCTION-2DPAGEi
IPI00395676

University College Dublin 2-DE Proteome Database

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UCD-2DPAGEi
Q16851

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

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GlyGeni
Q16851, 1 site, 1 O-linked glycan (1 site)

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 247 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q16851, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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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_section">'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_section">'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_section">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)

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BioGRIDi
113207, 69 interactors

Protein interaction database and analysis system

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IntActi
Q16851, 18 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000338703

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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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

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SMRi
Q16851

Database of comparative protein structure models

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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

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eggNOGi
KOG2638, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000153464

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_023632_3_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q16851

Identification of Orthologs from Complete Genome Data

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OMAi
TLKHGQL

Database of Orthologous Groups

More...
OrthoDBi
503037at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q16851

TreeFam database of animal gene trees

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TreeFami
TF300567

Family and domain databases

Conserved Domains Database

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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

The PANTHER Classification System

More...
PANTHERi
PTHR43511, PTHR43511, 1 hit

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_length">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.<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.

« Hide
        10         20         30         40         50
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: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>
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>
A0A7I2YQ74A0A7I2YQ74_HUMAN
UTP--glucose-1-phosphate uridylyltr...
UGP2
460Annotation 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: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>
C9JUW1C9JUW1_HUMAN
UTP--glucose-1-phosphate uridylyltr...
UGP2
135Annotation 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>
C9JQU9C9JQU9_HUMAN
UTP--glucose-1-phosphate uridylyltr...
UGP2
175Annotation 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>
C9JVG3C9JVG3_HUMAN
UTP--glucose-1-phosphate uridylyltr...
UGP2
170Annotation 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>
C9JWG0C9JWG0_HUMAN
UTP--glucose-1-phosphate uridylyltr...
UGP2
150Annotation 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>
A0A7I2V2Q3A0A7I2V2Q3_HUMAN
UTP--glucose-1-phosphate uridylyltr...
UGP2
144Annotation 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>
A0A7I2V4T0A0A7I2V4T0_HUMAN
UTP--glucose-1-phosphate uridylyltr...
UGP2
181Annotation 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>
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
STRINGi9606.ENSP00000338703

PTM databases

GlyGeniQ16851, 1 site, 1 O-linked glycan (1 site)
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, 212 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

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2638, Eukaryota
GeneTreeiENSGT00940000153464
HOGENOMiCLU_023632_3_0_1
InParanoidiQ16851
OMAiTLKHGQL
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, 115 hits in 1020 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 247 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
PANTHERiPTHR43511, PTHR43511, 1 hit
PfamiView protein in Pfam
PF01704, UDPGP, 1 hit
PIRSFiPIRSF000806, UDPGP, 1 hit
SUPFAMiSSF53448, SSF53448, 1 hit

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_and_isoforms">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: September 29, 2021
This is version 181 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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