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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_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=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_section">'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.
    Proteins known to be involved in the 2 steps of the subpathway in this organism are:
    1. Mannose-6-phosphate isomerase (MPI), Mannose-6-phosphate isomerase (MPI), Mannose-6-phosphate isomerase, Mannose-6-phosphate isomerase (MPI), Mannose-6-phosphate isomerase (MPI)
    2. Phosphomannomutase 1 (PMM1), Phosphomannomutase 2 (PMM2), Phosphomannomutase (PMM2), Phosphomannomutase (PMM2), Phosphomannomutase (PMM2), Phosphomannomutase (PMM2), Phosphomannomutase (PMM2), Phosphomannomutase (PMM2), Phosphomannomutase (PMM2), Phosphomannomutase (PMM2), Phosphomannomutase, Phosphomannomutase (PMM2), Phosphomannomutase, Phosphomannomutase, Phosphomannomutase (PMM1), Phosphomannomutase, Phosphomannomutase, Phosphomannomutase, Phosphomannomutase (PMM2)
    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 ‘Function’ 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
    Active sitei14Proton donor/acceptorSequence analysis1
    <p>This subsection of the ‘Function’ 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 sitei21SubstrateBy similarity1
    Binding sitei123SubstrateBy similarity1
    Binding sitei134SubstrateBy similarity1
    Binding sitei141SubstrateBy similarity1
    Binding sitei179SubstrateBy similarity1
    Binding sitei181SubstrateBy 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

    • phosphomannomutase activity Source: GO_Central

    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

    Enzyme and pathway databases

    BRENDA Comprehensive Enzyme Information System

    More...
    BRENDAi
    5.4.2.8 2681

    Reactome - a knowledgebase of biological pathways and processes

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

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...
    SABIO-RKi
    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_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:
    Phosphomannomutase 2 (EC:5.4.2.8)
    Short name:
    PMM 2
    <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:PMM2
    <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 16

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000140650.11

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:9115 PMM2

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    601785 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_O15305

    <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

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    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 mutations 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.
    See also OMIM:212065
    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:rs949271895Ensembl.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:rs753632453Ensembl.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:rs780581250Ensembl.1
    Natural variantiVAR_022495185D → G in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs1386173214Ensembl.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 Publication1
    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 Publications1
    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 Publications1
    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 Publication1
    Natural variantiVAR_022507228G → R in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs558826439Ensembl.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 mutation

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    5373

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

    More...
    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

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...
    ChEMBLi
    CHEMBL1741162

    Polymorphism and mutation 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_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
    <p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<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

    More...
    jPOSTi
    O15305

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    O15305

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

    More...
    PaxDbi
    O15305

    PeptideAtlas

    More...
    PeptideAtlasi
    O15305

    PRoteomics IDEntifications database

    More...
    PRIDEi
    O15305

    ProteomicsDB human proteome resource

    More...
    ProteomicsDBi
    48574

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    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 93 organ(s), highest expression level in heart left ventricle

    CleanEx database of gene expression profiles

    More...
    CleanExi
    HS_PMM2

    ExpressionAtlas, Differential and Baseline Expression

    More...
    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
    HPA040852
    HPA063649

    <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

    Homodimer.By similarity

    <p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

    WithEntry#Exp.IntActNotes
    ACY3Q96HD98EBI-10182608,EBI-3916242

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    111386, 7 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    O15305, 16 interactors

    Molecular INTeraction database

    More...
    MINTi
    O15305

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000268261

    Chemistry databases

    BindingDB database of measured binding affinities

    More...
    BindingDBi
    O15305

    <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

    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[»]

    Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

    More...
    ProteinModelPortali
    O15305

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

    More...
    SMRi
    O15305

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    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

    More...
    eggNOGi
    KOG3189 Eukaryota
    COG0561 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00390000002918

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000181843

    The HOVERGEN Database of Homologous Vertebrate Genes

    More...
    HOVERGENi
    HBG106188

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    O15305

    KEGG Orthology (KO)

    More...
    KOi
    K17497

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    TYCLQHL

    Database of Orthologous Groups

    More...
    OrthoDBi
    1038583at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    O15305

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF300874

    Family and domain databases

    Conserved Domains Database

    More...
    CDDi
    cd02585 HAD_PMM, 1 hit

    Gene3D Structural and Functional Annotation of Protein Families

    More...
    Gene3Di
    3.40.50.1000, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR036412 HAD-like_sf
    IPR006379 HAD-SF_hydro_IIB
    IPR023214 HAD_sf
    IPR005002 PMM

    The PANTHER Classification System

    More...
    PANTHERi
    PTHR10466 PTHR10466, 1 hit

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF03332 PMM, 1 hit

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF56784 SSF56784, 1 hit

    TIGRFAMs; a protein family database

    More...
    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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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 8 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 'canonical' 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.

    Note: No experimental confirmation available.
    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 8 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>
    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>
    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>
    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>
    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>
    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>
    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>

    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:rs949271895Ensembl.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:rs753632453Ensembl.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:rs780581250Ensembl.1
    Natural variantiVAR_022495185D → G in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs1386173214Ensembl.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 Publication1
    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:rs3743808Ensembl.1
    Natural variantiVAR_022500214G → S in CDG1A. 2 Publications1
    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 Publications1
    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 Publication1
    Natural variantiVAR_022507228G → R in CDG1A. 2 PublicationsCorresponds to variant dbSNP:rs558826439Ensembl.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<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

    More...
    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...
    DDBJi
    Links Updated
    U85773 mRNA Translation: AAC51368.1
    AF157796
    , AF157790, AF157791, AF157792, AF157793, AF157794, 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]

    UniGene gene-oriented nucleotide sequence clusters

    More...
    UniGenei
    Hs.625732

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000268261; ENSP00000268261; ENSG00000140650 [O15305-1]
    ENST00000566604; ENSP00000456774; ENSG00000140650 [O15305-2]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    5373

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:5373

    UCSC genome browser

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

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    <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
    , AF157790, AF157791, AF157792, AF157793, AF157794, 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]
    UniGeneiHs.625732

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    2AMYX-ray2.09A2-246[»]
    2Q4RX-ray2.09A2-246[»]
    ProteinModelPortaliO15305
    SMRiO15305
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi111386, 7 interactors
    IntActiO15305, 16 interactors
    MINTiO15305
    STRINGi9606.ENSP00000268261

    Chemistry databases

    BindingDBiO15305
    ChEMBLiCHEMBL1741162

    PTM databases

    iPTMnetiO15305
    PhosphoSitePlusiO15305

    Polymorphism and mutation databases

    BioMutaiPMM2

    Proteomic databases

    EPDiO15305
    jPOSTiO15305
    MaxQBiO15305
    PaxDbiO15305
    PeptideAtlasiO15305
    PRIDEiO15305
    ProteomicsDBi48574

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    5373
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000268261; ENSP00000268261; ENSG00000140650 [O15305-1]
    ENST00000566604; ENSP00000456774; ENSG00000140650 [O15305-2]
    GeneIDi5373
    KEGGihsa:5373
    UCSCiuc002czf.5 human [O15305-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    5373
    DisGeNETi5373
    EuPathDBiHostDB:ENSG00000140650.11

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    PMM2
    GeneReviewsiPMM2
    HGNCiHGNC:9115 PMM2
    HPAiHPA040852
    HPA063649
    MalaCardsiPMM2
    MIMi212065 phenotype
    601785 gene
    neXtProtiNX_O15305
    OpenTargetsiENSG00000140650
    Orphaneti79318 PMM2-CDG
    PharmGKBiPA33441

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG3189 Eukaryota
    COG0561 LUCA
    GeneTreeiENSGT00390000002918
    HOGENOMiHOG000181843
    HOVERGENiHBG106188
    InParanoidiO15305
    KOiK17497
    OMAiTYCLQHL
    OrthoDBi1038583at2759
    PhylomeDBiO15305
    TreeFamiTF300874

    Enzyme and pathway databases

    UniPathwayi
    UPA00126;UER00424

    BRENDAi5.4.2.8 2681
    ReactomeiR-HSA-4043911 Defective PMM2 causes PMM2-CDG (CDG-1a)
    R-HSA-446205 Synthesis of GDP-mannose
    SABIO-RKiO15305

    Miscellaneous databases

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

    More...
    ChiTaRSi
    PMM2 human
    EvolutionaryTraceiO15305

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    PMM2

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

    More...
    GenomeRNAii
    5373

    Protein Ontology

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    PROi
    PR:O15305

    The Stanford Online Universal Resource for Clones and ESTs

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    SOURCEi
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    Gene expression databases

    BgeeiENSG00000140650 Expressed in 93 organ(s), highest expression level in heart left ventricle
    CleanExiHS_PMM2
    ExpressionAtlasiO15305 baseline and differential
    GenevisibleiO15305 HS

    Family and domain databases

    CDDicd02585 HAD_PMM, 1 hit
    Gene3Di