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Entry version 218 (23 Feb 2022)
Sequence version 1 (01 Jan 1998)
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Protein

Phosphomannomutase 2

Gene

PMM2

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

Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.

By similarity

<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=16 µM for alpha-D-mannose 1-phosphate1 Publication
  2. KM=13.5 µM for alpha-D-glucose 1-phosphate1 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: GDP-alpha-D-mannose biosynthesis

This protein is involved in step 2 of the subpathway that synthesizes alpha-D-mannose 1-phosphate from D-fructose 6-phosphate. This subpathway is part of the pathway GDP-alpha-D-mannose biosynthesis, which is itself part of Nucleotide-sugar biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes alpha-D-mannose 1-phosphate from D-fructose 6-phosphate, the pathway GDP-alpha-D-mannose biosynthesis and in Nucleotide-sugar biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 sitei12NucleophileBy similarity1
<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 bindingi12Magnesium 1By similarity1
Active sitei14Proton donor/acceptorBy similarity1
Metal bindingi14Magnesium 1; via carbonyl oxygenBy 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 sitei21Alpha-D-mannose 1-phosphateBy similarity1
Binding sitei123Alpha-D-mannose 1-phosphateBy similarity1
Binding sitei134Alpha-D-mannose 1-phosphateBy similarity1
Binding sitei141Alpha-D-mannose 1-phosphateBy similarity1
Binding sitei179Alpha-D-mannose 1-phosphateBy similarity1
Binding sitei181Alpha-D-mannose 1-phosphateBy similarity1
Metal bindingi209Magnesium 1By similarity1
Metal bindingi221Magnesium 2; via carbonyl oxygenBy similarity1
Metal bindingi223Magnesium 2; via carbonyl oxygenBy similarity1
Metal bindingi226Magnesium 2; via carbonyl oxygenBy 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 functionIsomerase
LigandMagnesium, Metal-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

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BRENDAi
5.4.2.8, 2681

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
O15305

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-4043911, Defective PMM2 causes PMM2-CDG (CDG-1a)
R-HSA-446205, Synthesis of GDP-mannose

SABIO-RK: Biochemical Reaction Kinetics Database

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SABIO-RKi
O15305

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
O15305

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

More...
UniPathwayi
UPA00126;UER00424

<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:
Phosphomannomutase 21 Publication (EC:5.4.2.81 Publication)
Short name:
PMM 21 Publication
<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:PMM2
<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 16

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:9115, PMM2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
601785, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O15305

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000140650

<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

Congenital disorder of glycosylation 1A (CDG1A)14 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1A is an autosomal recessive disorder characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism.
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_0224699C → Y in CDG1A. 3 PublicationsCorresponds to variant dbSNP:rs104894532EnsemblClinVar.1
Natural variantiVAR_02247011F → C in CDG1A. 2 Publications1
Natural variantiVAR_02247115G → E in CDG1A. 1 Publication1
Natural variantiVAR_02247220P → S in CDG1A; reduction of activity. 1 PublicationCorresponds to variant dbSNP:rs949271895EnsemblClinVar.1
Natural variantiVAR_02247332L → R in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs398123312EnsemblClinVar.1
Natural variantiVAR_02247437Q → H in CDG1A; partial loss of activity. 1 Publication1
Natural variantiVAR_00609344V → A in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs104894534EnsemblClinVar.1
Natural variantiVAR_02256344V → L in CDG1A. 1 Publication1
Natural variantiVAR_02247664Y → C in CDG1A. 1 Publication1
Natural variantiVAR_00609465D → Y in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs104894527EnsemblClinVar.1
Natural variantiVAR_02247767V → M in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs1318611010Ensembl.1
Natural variantiVAR_02247869P → S in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs769648248EnsemblClinVar.1
Natural variantiVAR_02247976Y → C in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs1440183322Ensembl.1
Natural variantiVAR_02248093E → A in CDG1A. 1 Publication1
Natural variantiVAR_006095101N → K in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs769839273Ensembl.1
Natural variantiVAR_022481103C → F in CDG1A. 2 Publications1
Natural variantiVAR_012344104L → V in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs770458492EnsemblClinVar.1
Natural variantiVAR_006096106Y → C in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs387906824Ensembl.1
Natural variantiVAR_006097108A → V in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs200503569EnsemblClinVar.1
Natural variantiVAR_006098113P → L in CDG1A. 3 PublicationsCorresponds to variant dbSNP:rs80338700EnsemblClinVar.1
Natural variantiVAR_006099117G → R in CDG1A; loss of activity. 4 PublicationsCorresponds to variant dbSNP:rs104894530EnsemblClinVar.1
Natural variantiVAR_006100119F → L in CDG1A; partial loss of activity. 5 PublicationsCorresponds to variant dbSNP:rs80338701EnsemblClinVar.1
Natural variantiVAR_022482120I → T in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs368582085EnsemblClinVar.1
Natural variantiVAR_006101123R → Q in CDG1A. 3 PublicationsCorresponds to variant dbSNP:rs141498002EnsemblClinVar.1
Natural variantiVAR_006102129V → M in CDG1A. 3 PublicationsCorresponds to variant dbSNP:rs104894525EnsemblClinVar.1
Natural variantiVAR_006103131P → A in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs1274547742Ensembl.1
Natural variantiVAR_022483132I → F in CDG1A; slightly reduced activity. 1 PublicationCorresponds to variant dbSNP:rs753632453EnsemblClinVar.1
Natural variantiVAR_022484132I → N in CDG1A. 2 Publications1
Natural variantiVAR_006104132I → T in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs80338702EnsemblClinVar.1
Natural variantiVAR_009232139E → K in CDG1A; this mutation seems to disrupt a splicing enhancer sequence and thus results in most cases in a protein with exon 5 skipped; slightly reduced activity. 3 PublicationsCorresponds to variant dbSNP:rs80338703EnsemblClinVar.1
Natural variantiVAR_022485141R → C in CDG1A; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs746610168EnsemblClinVar.1
Natural variantiVAR_006105141R → H in CDG1A; frequent mutation; loss of activity; observed in heterozygous patients; homozygosis of this mutation is incompatible with life. 6 PublicationsCorresponds to variant dbSNP:rs28936415EnsemblClinVar.1
Natural variantiVAR_022486144F → L in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs150719105EnsemblClinVar.1
Natural variantiVAR_022487148D → N in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs148032587EnsemblClinVar.1
Natural variantiVAR_022488151E → G in CDG1A. 1 Publication1
Natural variantiVAR_022489153I → T in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs150577656EnsemblClinVar.1
Natural variantiVAR_022490157F → S in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs190521996EnsemblClinVar.1
Natural variantiVAR_006106162R → W in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs104894526EnsemblClinVar.1
Natural variantiVAR_022491172F → V in CDG1A. 2 Publications1
Natural variantiVAR_006107175G → R in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs941830625Ensembl.1
Natural variantiVAR_022492176G → V in CDG1A; loss of activity. 1 Publication1
Natural variantiVAR_022493177Q → H in CDG1A; partial loss of activity. 1 Publication1
Natural variantiVAR_022494183F → S in CDG1A. 3 PublicationsCorresponds to variant dbSNP:rs780581250EnsemblClinVar.1
Natural variantiVAR_022495185D → G in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs1386173214EnsemblClinVar.1
Natural variantiVAR_006108188D → G in CDG1A; severe. 1 PublicationCorresponds to variant dbSNP:rs80338704EnsemblClinVar.1
Natural variantiVAR_022496192C → G in CDG1A; normal activity but lower affinity for alpha-D-mannose 1-phosphate. 3 Publications1
Natural variantiVAR_022497195H → R in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs1596489887EnsemblClinVar.1
Natural variantiVAR_022499206F → S in CDG1A. 1 Publication1
Natural variantiVAR_006109208G → A in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs398123309EnsemblClinVar.1
Natural variantiVAR_022500214G → S in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs1555453238EnsemblClinVar.1
Natural variantiVAR_006110216N → I in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs78290141EnsemblClinVar.1
Natural variantiVAR_022501216N → S in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs78290141EnsemblClinVar.1
Natural variantiVAR_022502217D → E in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs752614554EnsemblClinVar.1
Natural variantiVAR_022503218H → L in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs80338705EnsemblClinVar.1
Natural variantiVAR_006111223D → E in CDG1A; normal activity but lower affinity for alpha-D-mannose 1-phosphate. 4 PublicationsCorresponds to variant dbSNP:rs104894531EnsemblClinVar.1
Natural variantiVAR_022504223D → N in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs201960869Ensembl.1
Natural variantiVAR_022505226T → S in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs80338706EnsemblClinVar.1
Natural variantiVAR_022506228G → C in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs558826439EnsemblClinVar.1
Natural variantiVAR_022507228G → R in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs558826439EnsemblClinVar.1
Natural variantiVAR_006112229Y → S in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs398123311EnsemblClinVar.1
Natural variantiVAR_006113231V → M in CDG1A. 5 PublicationsCorresponds to variant dbSNP:rs80338707EnsemblClinVar.1
Natural variantiVAR_006114233A → T in CDG1A; unknown pathological significance. 1 Publication1
Natural variantiVAR_006115237T → M in CDG1A. 3 PublicationsCorresponds to variant dbSNP:rs80338708EnsemblClinVar.1
Natural variantiVAR_022508237T → R in CDG1A; loss of activity. 4 PublicationsCorresponds to variant dbSNP:rs80338708EnsemblClinVar.1
Natural variantiVAR_022509238R → G in CDG1A. 1 Publication1
Natural variantiVAR_006116238R → P in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs151319324Ensembl.1
Natural variantiVAR_022510241C → S in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs80338709EnsemblClinVar.1

Keywords - Diseasei

Congenital disorder of glycosylation, Disease variant

Organism-specific databases

DisGeNET

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DisGeNETi
5373

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
PMM2

MalaCards human disease database

More...
MalaCardsi
PMM2
MIMi212065, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000140650

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
79318, PMM2-CDG

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33441

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
O15305, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL1741162

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PMM2

<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 <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
<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_00001996942 – 246Phosphomannomutase 2Add BLAST245

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 residuei2N-acetylalanineCombined sources1
Modified residuei149N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O15305

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O15305

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
O15305

MaxQB - The MaxQuant DataBase

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MaxQBi
O15305

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

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PaxDbi
O15305

PeptideAtlas

More...
PeptideAtlasi
O15305

PRoteomics IDEntifications database

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PRIDEi
O15305

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
48574 [O15305-1]
6798

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
O15305, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O15305

MetOSite database of methionine sulfoxide sites

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MetOSitei
O15305

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

More...
PhosphoSitePlusi
O15305

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000140650, Expressed in sural nerve and 117 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O15305, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O15305, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000140650, Low tissue specificity

<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

Homodimer.

By similarity

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
111386, 19 interactors

Protein interaction database and analysis system

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IntActi
O15305, 18 interactors

Molecular INTeraction database

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MINTi
O15305

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000268261

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
O15305

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
O15305, 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

1246
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
O15305

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
O15305

<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

<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 eukaryotic PMM family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3189, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00390000002918

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_065642_1_1_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O15305

Identification of Orthologs from Complete Genome Data

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OMAi
VCPIGRQ

Database for complete collections of gene phylogenies

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PhylomeDBi
O15305

TreeFam database of animal gene trees

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TreeFami
TF300874

Family and domain databases

Conserved Domains Database

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CDDi
cd02585, HAD_PMM, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.1240.20, 1 hit
3.40.50.1000, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR036412, HAD-like_sf
IPR006379, HAD-SF_hydro_IIB
IPR023214, HAD_sf
IPR005002, PMM
IPR043169, PMM_cap

The PANTHER Classification System

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PANTHERi
PTHR10466, PTHR10466, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF03332, PMM, 1 hit

Structure-Function Linkage Database

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SFLDi
SFLDF00445, alpha-phosphomannomutase, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF56784, SSF56784, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR01484, HAD-SF-IIB, 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.<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 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O15305-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><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
MAAPGPALCL FDVDGTLTAP RQKITKEMDD FLQKLRQKIK IGVVGGSDFE
60 70 80 90 100
KVQEQLGNDV VEKYDYVFPE NGLVAYKDGK LLCRQNIQSH LGEALIQDLI
110 120 130 140 150
NYCLSYIAKI KLPKKRGTFI EFRNGMLNVS PIGRSCSQEE RIEFYELDKK
160 170 180 190 200
ENIRQKFVAD LRKEFAGKGL TFSIGGQISF DVFPDGWDKR YCLRHVENDG
210 220 230 240
YKTIYFFGDK TMPGGNDHEI FTDPRTMGYS VTAPEDTRRI CELLFS
Length:246
Mass (Da):28,082
Last modified:January 1, 1998 - v1
<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:i29F1D5B9539B6221
GO
Isoform 2 (identifier: O15305-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     117-119: GTF → KKI
     120-246: Missing.

Show »
Length:119
Mass (Da):13,428
Checksum:iC9EF8183BC7078D8
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BV55H3BV55_HUMAN
Phosphomannomutase
PMM2
219Annotation 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>
H3BNY9H3BNY9_HUMAN
Phosphomannomutase
PMM2
91Annotation 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>
H3BRM0H3BRM0_HUMAN
Phosphomannomutase
PMM2
155Annotation 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>
H3BPH4H3BPH4_HUMAN
Phosphomannomutase
PMM2
142Annotation 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>
H3BT06H3BT06_HUMAN
Phosphomannomutase
PMM2
90Annotation 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>
H3BR08H3BR08_HUMAN
Phosphomannomutase
PMM2
65Annotation 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>
H3BV34H3BV34_HUMAN
Phosphomannomutase
PMM2
70Annotation 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>
H3BM92H3BM92_HUMAN
Phosphomannomutase
PMM2
66Annotation 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>
A0A804HKA7A0A804HKA7_HUMAN
Phosphomannomutase
PMM2
228Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0224699C → Y in CDG1A. 3 PublicationsCorresponds to variant dbSNP:rs104894532EnsemblClinVar.1
Natural variantiVAR_02247011F → C in CDG1A. 2 Publications1
Natural variantiVAR_02247115G → E in CDG1A. 1 Publication1
Natural variantiVAR_02247220P → S in CDG1A; reduction of activity. 1 PublicationCorresponds to variant dbSNP:rs949271895EnsemblClinVar.1
Natural variantiVAR_02247332L → R in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs398123312EnsemblClinVar.1
Natural variantiVAR_02247437Q → H in CDG1A; partial loss of activity. 1 Publication1
Natural variantiVAR_02213337Q → L. Corresponds to variant dbSNP:rs2304472EnsemblClinVar.1
Natural variantiVAR_02247542G → R2 PublicationsCorresponds to variant dbSNP:rs755402538EnsemblClinVar.1
Natural variantiVAR_00609344V → A in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs104894534EnsemblClinVar.1
Natural variantiVAR_02256344V → L in CDG1A. 1 Publication1
Natural variantiVAR_02247664Y → C in CDG1A. 1 Publication1
Natural variantiVAR_00609465D → Y in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs104894527EnsemblClinVar.1
Natural variantiVAR_02247767V → M in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs1318611010Ensembl.1
Natural variantiVAR_02247869P → S in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs769648248EnsemblClinVar.1
Natural variantiVAR_02247976Y → C in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs1440183322Ensembl.1
Natural variantiVAR_02248093E → A in CDG1A. 1 Publication1
Natural variantiVAR_006095101N → K in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs769839273Ensembl.1
Natural variantiVAR_022481103C → F in CDG1A. 2 Publications1
Natural variantiVAR_012344104L → V in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs770458492EnsemblClinVar.1
Natural variantiVAR_006096106Y → C in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs387906824Ensembl.1
Natural variantiVAR_006097108A → V in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs200503569EnsemblClinVar.1
Natural variantiVAR_006098113P → L in CDG1A. 3 PublicationsCorresponds to variant dbSNP:rs80338700EnsemblClinVar.1
Natural variantiVAR_006099117G → R in CDG1A; loss of activity. 4 PublicationsCorresponds to variant dbSNP:rs104894530EnsemblClinVar.1
Natural variantiVAR_006100119F → L in CDG1A; partial loss of activity. 5 PublicationsCorresponds to variant dbSNP:rs80338701EnsemblClinVar.1
Natural variantiVAR_022482120I → T in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs368582085EnsemblClinVar.1
Natural variantiVAR_006101123R → Q in CDG1A. 3 PublicationsCorresponds to variant dbSNP:rs141498002EnsemblClinVar.1
Natural variantiVAR_006102129V → M in CDG1A. 3 PublicationsCorresponds to variant dbSNP:rs104894525EnsemblClinVar.1
Natural variantiVAR_006103131P → A in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs1274547742Ensembl.1
Natural variantiVAR_022483132I → F in CDG1A; slightly reduced activity. 1 PublicationCorresponds to variant dbSNP:rs753632453EnsemblClinVar.1
Natural variantiVAR_022484132I → N in CDG1A. 2 Publications1
Natural variantiVAR_006104132I → T in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs80338702EnsemblClinVar.1
Natural variantiVAR_009232139E → K in CDG1A; this mutation seems to disrupt a splicing enhancer sequence and thus results in most cases in a protein with exon 5 skipped; slightly reduced activity. 3 PublicationsCorresponds to variant dbSNP:rs80338703EnsemblClinVar.1
Natural variantiVAR_022485141R → C in CDG1A; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs746610168EnsemblClinVar.1
Natural variantiVAR_006105141R → H in CDG1A; frequent mutation; loss of activity; observed in heterozygous patients; homozygosis of this mutation is incompatible with life. 6 PublicationsCorresponds to variant dbSNP:rs28936415EnsemblClinVar.1
Natural variantiVAR_022486144F → L in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs150719105EnsemblClinVar.1
Natural variantiVAR_022487148D → N in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs148032587EnsemblClinVar.1
Natural variantiVAR_022488151E → G in CDG1A. 1 Publication1
Natural variantiVAR_022489153I → T in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs150577656EnsemblClinVar.1
Natural variantiVAR_022490157F → S in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs190521996EnsemblClinVar.1
Natural variantiVAR_006106162R → W in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs104894526EnsemblClinVar.1
Natural variantiVAR_022491172F → V in CDG1A. 2 Publications1
Natural variantiVAR_006107175G → R in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs941830625Ensembl.1
Natural variantiVAR_022492176G → V in CDG1A; loss of activity. 1 Publication1
Natural variantiVAR_022493177Q → H in CDG1A; partial loss of activity. 1 Publication1
Natural variantiVAR_022494183F → S in CDG1A. 3 PublicationsCorresponds to variant dbSNP:rs780581250EnsemblClinVar.1
Natural variantiVAR_022495185D → G in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs1386173214EnsemblClinVar.1
Natural variantiVAR_006108188D → G in CDG1A; severe. 1 PublicationCorresponds to variant dbSNP:rs80338704EnsemblClinVar.1
Natural variantiVAR_022496192C → G in CDG1A; normal activity but lower affinity for alpha-D-mannose 1-phosphate. 3 Publications1
Natural variantiVAR_022497195H → R in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs1596489887EnsemblClinVar.1
Natural variantiVAR_022498197E → A2 PublicationsCorresponds to variant dbSNP:rs34258285EnsemblClinVar.1
Natural variantiVAR_022499206F → S in CDG1A. 1 Publication1
Natural variantiVAR_006109208G → A in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs398123309EnsemblClinVar.1
Natural variantiVAR_022134212M → V. Corresponds to variant dbSNP:rs3743808EnsemblClinVar.1
Natural variantiVAR_022500214G → S in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs1555453238EnsemblClinVar.1
Natural variantiVAR_006110216N → I in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs78290141EnsemblClinVar.1
Natural variantiVAR_022501216N → S in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs78290141EnsemblClinVar.1
Natural variantiVAR_022502217D → E in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs752614554EnsemblClinVar.1
Natural variantiVAR_022503218H → L in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs80338705EnsemblClinVar.1
Natural variantiVAR_006111223D → E in CDG1A; normal activity but lower affinity for alpha-D-mannose 1-phosphate. 4 PublicationsCorresponds to variant dbSNP:rs104894531EnsemblClinVar.1
Natural variantiVAR_022504223D → N in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs201960869Ensembl.1
Natural variantiVAR_022505226T → S in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs80338706EnsemblClinVar.1
Natural variantiVAR_022506228G → C in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs558826439EnsemblClinVar.1
Natural variantiVAR_022507228G → R in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs558826439EnsemblClinVar.1
Natural variantiVAR_006112229Y → S in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs398123311EnsemblClinVar.1
Natural variantiVAR_006113231V → M in CDG1A. 5 PublicationsCorresponds to variant dbSNP:rs80338707EnsemblClinVar.1
Natural variantiVAR_006114233A → T in CDG1A; unknown pathological significance. 1 Publication1
Natural variantiVAR_006115237T → M in CDG1A. 3 PublicationsCorresponds to variant dbSNP:rs80338708EnsemblClinVar.1
Natural variantiVAR_022508237T → R in CDG1A; loss of activity. 4 PublicationsCorresponds to variant dbSNP:rs80338708EnsemblClinVar.1
Natural variantiVAR_022509238R → G in CDG1A. 1 Publication1
Natural variantiVAR_006116238R → P in CDG1A. 1 PublicationCorresponds to variant dbSNP:rs151319324Ensembl.1
Natural variantiVAR_022510241C → S in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs80338709EnsemblClinVar.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_056228117 – 119GTF → KKI in isoform 2. 1 Publication3
Alternative sequenceiVSP_056229120 – 246Missing in isoform 2. 1 PublicationAdd BLAST127

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U85773 mRNA Translation: AAC51368.1
AF157796 AF157795 Genomic DNA Translation: AAD45895.1
AK291537 mRNA Translation: BAF84226.1
AK300785 mRNA Translation: BAH13346.1
AC012173 Genomic DNA No translation available.
CH471112 Genomic DNA Translation: EAW85200.1
CH471112 Genomic DNA Translation: EAW85201.1
CH471112 Genomic DNA Translation: EAW85202.1
CH471112 Genomic DNA Translation: EAW85203.1
BC008310 mRNA Translation: AAH08310.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10536.1 [O15305-1]

NCBI Reference Sequences

More...
RefSeqi
NP_000294.1, NM_000303.2 [O15305-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000268261; ENSP00000268261; ENSG00000140650
ENST00000566604; ENSP00000456774; ENSG00000140650 [O15305-2]
ENST00000683274; ENSP00000507262; ENSG00000140650 [O15305-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
5373

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:5373

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...
MANE-Selecti
ENST00000268261.9; ENSP00000268261.4; NM_000303.3; NP_000294.1

UCSC genome browser

More...
UCSCi
uc002czf.5, human [O15305-1]

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
U85773 mRNA Translation: AAC51368.1
AF157796 AF157795 Genomic DNA Translation: AAD45895.1
AK291537 mRNA Translation: BAF84226.1
AK300785 mRNA Translation: BAH13346.1
AC012173 Genomic DNA No translation available.
CH471112 Genomic DNA Translation: EAW85200.1
CH471112 Genomic DNA Translation: EAW85201.1
CH471112 Genomic DNA Translation: EAW85202.1
CH471112 Genomic DNA Translation: EAW85203.1
BC008310 mRNA Translation: AAH08310.1
CCDSiCCDS10536.1 [O15305-1]
RefSeqiNP_000294.1, NM_000303.2 [O15305-1]

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
2AMYX-ray2.09A2-246[»]
2Q4RX-ray2.09A2-246[»]
SMRiO15305
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi111386, 19 interactors
IntActiO15305, 18 interactors
MINTiO15305
STRINGi9606.ENSP00000268261

Chemistry databases

BindingDBiO15305
ChEMBLiCHEMBL1741162

PTM databases

GlyGeniO15305, 1 site, 1 O-linked glycan (1 site)
iPTMnetiO15305
MetOSiteiO15305
PhosphoSitePlusiO15305

Genetic variation databases