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UniProtKB - P36871 (PGM1_HUMAN)

Entry version 207 (02 Dec 2020)
Sequence version 3 (23 Jan 2007)
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Protein

Phosphoglucomutase-1

Gene

PGM1

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

This enzyme participates in both the breakdown and synthesis of glucose.

<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 provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+1 PublicationNote: Binds 1 Mg2+ ion per subunit.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Glucose-1,6-bisphosphate enhances phosphorylation of the active site Ser-117, and thereby increases enzyme activity.1 Publication

<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=80 µM for alpha-D-glucose 1-phosphate1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <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 sitei19SubstrateBy similarity1
    Binding sitei23SubstrateBy similarity1
    <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 sitei117Phosphoserine intermediate1 Publication1
    <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 bindingi117Magnesium; via phosphate groupBy similarity1
    Binding sitei130SubstrateBy similarity1
    Metal bindingi288Magnesium1 Publication1
    Metal bindingi290Magnesium1 Publication1
    Metal bindingi292Magnesium1 Publication1
    Binding sitei357SubstrateBy similarity1
    Binding sitei389SubstrateBy similarity1
    Binding sitei515SubstrateBy 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

    Complete GO annotation on QuickGO ...

    GO - Biological processi

    Complete GO annotation on QuickGO ...

    <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
    Biological processCarbohydrate metabolism, Glucose metabolism
    LigandMagnesium, Metal-binding

    Enzyme and pathway databases

    BioCyc Collection of Pathway/Genome Databases

    More...    BioCyci    		MetaCyc:HS01335-MONOMER

    Pathway Commons web resource for biological pathway data

    More...    PathwayCommonsi    		P36871

    Reactome - a knowledgebase of biological pathways and processes

    More...    Reactomei    		R-HSA-3322077, Glycogen synthesis
    R-HSA-5609974, Defective PGM1 causes PGM1-CDG (CDG1t)
    R-HSA-6798695, Neutrophil degranulation

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...    SABIO-RKi    		P36871

    SIGNOR Signaling Network Open Resource

    More...    SIGNORi    		P36871

    <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:
    Phosphoglucomutase-1 (EC:5.4.2.22 Publications)
    Short name:
    PGM 1
    Alternative name(s):
    Glucose phosphomutase 1
    <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:PGM1
    <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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
    <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 1

    Organism-specific databases

    Eukaryotic Pathogen and Host Database Resources

    More...    EuPathDBi    		HostDB:ENSG00000079739.15

    Human Gene Nomenclature Database

    More...    HGNCi    		HGNC:8905, PGM1

    Online Mendelian Inheritance in Man (OMIM)

    More...    MIMi    		171900, gene

    neXtProt; the human protein knowledge platform

    More...    neXtProti    		NX_P36871

    <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 & Seán O’Donoghue; 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 1T (CDG1T)6 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.
    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_07163519T → A in CDG1T; reduces strongly phosphoglucomutase activity. 2 PublicationsCorresponds to variant dbSNP:rs1320810473Ensembl.1
    Natural variantiVAR_07163638N → Y in CDG1T; reduces strongly solubility; increases aggregation. 2 PublicationsCorresponds to variant dbSNP:rs587777402EnsemblClinVar.1
    Natural variantiVAR_07163741Q → R in CDG1T; reduces solubility; increases aggregation. 2 PublicationsCorresponds to variant dbSNP:rs1300651770EnsemblClinVar.1
    Natural variantiVAR_07163862D → H in CDG1T; reduces solubility; reduces strongly phosphoglucomutase activity. 2 PublicationsCorresponds to variant dbSNP:rs587777403EnsemblClinVar.1
    Natural variantiVAR_062280115T → A in CDG1T; reduces mildly phosphoglucomutase activity. 3 PublicationsCorresponds to variant dbSNP:rs121918371EnsemblClinVar.1
    Natural variantiVAR_069219121G → R in CDG1T; there is 7% enzyme residual phosphoglucomutase activity. 3 PublicationsCorresponds to variant dbSNP:rs398122912EnsemblClinVar.1
    Natural variantiVAR_071639263D → G in CDG1T; reduces strongly phosphoglucomutase activity. 2 PublicationsCorresponds to variant dbSNP:rs1465877146Ensembl.1
    Natural variantiVAR_071640263D → Y in CDG1T; reduces strongly phosphoglucomutase activity. 2 PublicationsCorresponds to variant dbSNP:rs587777404EnsemblClinVar.1
    Natural variantiVAR_071641291G → R in CDG1T; reduces strongly phosphoglucomutase activity. 3 PublicationsCorresponds to variant dbSNP:rs772768778Ensembl.1
    Natural variantiVAR_071642330G → R in CDG1T; decreases mildly solubility. 2 PublicationsCorresponds to variant dbSNP:rs777164338Ensembl.1
    Natural variantiVAR_071643377E → K in CDG1T; decreases strongly solubility. 2 Publications1
    Natural variantiVAR_071644388E → K in CDG1T; decreases strongly solubility. 2 PublicationsCorresponds to variant dbSNP:rs1301021797Ensembl.1
    Natural variantiVAR_071645516L → P in CDG1T; decreases strongly solubility. 2 PublicationsCorresponds to variant dbSNP:rs587777401EnsemblClinVar.1

    Keywords - Diseasei

    Congenital disorder of glycosylation, Disease mutation, Glycogen storage disease

    Organism-specific databases

    DisGeNET

    More...    DisGeNETi    		5236

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

    More...    GeneReviewsi    		PGM1

    MalaCards human disease database

    More...    MalaCardsi    		PGM1
    MIMi614921, phenotype

    Open Targets

    More...    OpenTargetsi    		ENSG00000079739

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

    More...    Orphaneti    		319646, PGM1-CDG

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...    PharmGKBi    		PA33242

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...    Pharosi    		P36871, Tbio

    Chemistry databases

    Drug and drug target database

    More...    DrugBanki    		DB02835, Alpha-D-Glucose 1,6-Bisphosphate
    DB04397, Alpha-D-Glucose-1-Phosphate-6-Vanadate
    DB06773, Human calcitonin

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...    BioMutai    		PGM1

    Domain mapping of disease mutations (DMDM)

    More...    DMDMi    		585670

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

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001477761 – 562Phosphoglucomutase-1Add BLAST562

    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 residuei1N-acetylmethionineCombined sources1
    Modified residuei16N6-acetyllysineCombined sources1
    Modified residuei115PhosphothreonineBy similarity1
    Modified residuei117PhosphoserineCombined sources1 Publication1
    Modified residuei134PhosphoserineBy similarity1
    Modified residuei185PhosphothreonineCombined sources1
    Modified residuei201PhosphoserineCombined sources1
    Modified residuei206PhosphoserineCombined sources1
    Modified residuei213PhosphoserineBy similarity1
    Modified residuei349N6-acetyllysineBy similarity1
    Modified residuei353PhosphotyrosineBy similarity1
    Modified residuei369PhosphoserineBy similarity1
    Modified residuei378PhosphoserineCombined sources1
    Modified residuei419N6-succinyllysineBy similarity1
    Modified residuei467Phosphothreonine; by PAK11 Publication1
    Modified residuei477PhosphoserineBy similarity1
    Modified residuei485PhosphoserineBy similarity1
    Modified residuei505PhosphoserineCombined sources1
    Modified residuei507PhosphothreonineBy similarity1
    Modified residuei509PhosphoserineCombined sources1
    Modified residuei541PhosphoserineBy similarity1
    Isoform 2 (identifier: P36871-2)
    Modified residuei1N-acetylmethionineCombined sources1

    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

    Phosphorylation at Thr-467 by PAK1 significantly enhances enzymatic activity.1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    The CPTAC Assay portal

    More...    CPTACi    		CPTAC-255
    CPTAC-256
    CPTAC-988

    Encyclopedia of Proteome Dynamics

    More...    EPDi    		P36871

    jPOST - Japan Proteome Standard Repository/Database

    More...    jPOSTi    		P36871

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...    MassIVEi    		P36871

    MaxQB - The MaxQuant DataBase

    More...    MaxQBi    		P36871

    PeptideAtlas

    More...    PeptideAtlasi    		P36871

    PRoteomics IDEntifications database

    More...    PRIDEi    		P36871

    ProteomicsDB: a multi-organism proteome resource

    More...    ProteomicsDBi    		4816
    55222 [P36871-1]
    55223 [P36871-2]

    Consortium for Top Down Proteomics

    More...    TopDownProteomicsi    		P36871-1 [P36871-1]

    2D gel databases

    REPRODUCTION-2DPAGE

    More...    REPRODUCTION-2DPAGEi    		P36871

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...    iPTMneti    		P36871

    MetOSite database of methionine sulfoxide sites

    More...    MetOSitei    		P36871

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

    More...    PhosphoSitePlusi    		P36871

    SwissPalm database of S-palmitoylation events

    More...    SwissPalmi    		P36871

    <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    		ENSG00000079739, Expressed in skeletal muscle tissue and 245 other tissues

    ExpressionAtlas, Differential and Baseline Expression

    More...    ExpressionAtlasi    		P36871, baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...    Genevisiblei    		P36871, HS

    Organism-specific databases

    Human Protein Atlas

    More...    HPAi    		ENSG00000079739, Tissue enriched (skeletal)

    <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

    Monomer.

    <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

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGRID)

    More...    BioGRIDi    		111256, 72 interactors

    Database of interacting proteins

    More...    DIPi    		DIP-60903N

    Protein interaction database and analysis system

    More...    IntActi    		P36871, 34 interactors

    STRING: functional protein association networks

    More...    STRINGi    		9606.ENSP00000360124

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...    RNActi    		P36871, 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

    1562
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

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

    More...    SMRi    		P36871

    Database of comparative protein structure models

    More...    ModBasei    		Search...

    Protein Data Bank in Europe - Knowledge Base

    More...    PDBe-KBi    		Search...

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

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni117 – 118Substrate bindingBy similarity2
    Regioni292 – 293Substrate bindingBy similarity2
    Regioni376 – 378Substrate bindingBy similarity3

    <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 phosphohexose mutase family.Curated

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...    eggNOGi    		KOG0625, Eukaryota

    Ensembl GeneTree

    More...    GeneTreei    		ENSGT00940000155542

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...    HOGENOMi    		CLU_009330_0_1_1

    InParanoid: Eukaryotic Ortholog Groups

    More...    InParanoidi    		P36871

    Identification of Orthologs from Complete Genome Data

    More...    OMAi    		DIYKIYA

    Database of Orthologous Groups

    More...    OrthoDBi    		446752at2759

    Database for complete collections of gene phylogenies

    More...    PhylomeDBi    		P36871

    TreeFam database of animal gene trees

    More...    TreeFami    		TF300350

    Family and domain databases

    Integrated resource of protein families, domains and functional sites

    More...    InterProi    		View protein in InterPro
    IPR005844, A-D-PHexomutase_a/b/a-I
    IPR016055, A-D-PHexomutase_a/b/a-I/II/III
    IPR005845, A-D-PHexomutase_a/b/a-II
    IPR005846, A-D-PHexomutase_a/b/a-III
    IPR005843, A-D-PHexomutase_C
    IPR036900, A-D-PHexomutase_C_sf
    IPR016066, A-D-PHexomutase_CS
    IPR005841, Alpha-D-phosphohexomutase_SF

    Pfam protein domain database

    More...    Pfami    		View protein in Pfam
    PF02878, PGM_PMM_I, 1 hit
    PF02879, PGM_PMM_II, 1 hit
    PF02880, PGM_PMM_III, 1 hit
    PF00408, PGM_PMM_IV, 1 hit

    Protein Motif fingerprint database; a protein domain database

    More...    PRINTSi    		PR00509, PGMPMM

    Superfamily database of structural and functional annotation

    More...    SUPFAMi    		SSF53738, SSF53738, 3 hits
    SSF55957, SSF55957, 1 hit

    PROSITE; a protein domain and family database

    More...    PROSITEi    		View protein in PROSITE
    PS00710, PGM_PMM, 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 (3+)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.

    This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

    Isoform 1 (identifier: P36871-1) [UniParc]FASTAAdd to basket

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

    « Hide
            10         20         30         40         50
    MVKIVTVKTQ AYQDQKPGTS GLRKRVKVFQ SSANYAENFI QSIISTVEPA 
            60         70         80         90        100
    QRQEATLVVG GDGRFYMKEA IQLIARIAAA NGIGRLVIGQ NGILSTPAVS 
           110        120        130        140        150
    CIIRKIKAIG GIILTASHNP GGPNGDFGIK FNISNGGPAP EAITDKIFQI 
           160        170        180        190        200
    SKTIEEYAVC PDLKVDLGVL GKQQFDLENK FKPFTVEIVD SVEAYATMLR 
           210        220        230        240        250
    SIFDFSALKE LLSGPNRLKI RIDAMHGVVG PYVKKILCEE LGAPANSAVN 
           260        270        280        290        300
    CVPLEDFGGH HPDPNLTYAA DLVETMKSGE HDFGAAFDGD GDRNMILGKH 
           310        320        330        340        350
    GFFVNPSDSV AVIAANIFSI PYFQQTGVRG FARSMPTSGA LDRVASATKI 
           360        370        380        390        400
    ALYETPTGWK FFGNLMDASK LSLCGEESFG TGSDHIREKD GLWAVLAWLS 
           410        420        430        440        450
    ILATRKQSVE DILKDHWQKY GRNFFTRYDY EEVEAEGANK MMKDLEALMF 
           460        470        480        490        500
    DRSFVGKQFS ANDKVYTVEK ADNFEYSDPV DGSISRNQGL RLIFTDGSRI 
           510        520        530        540        550
    VFRLSGTGSA GATIRLYIDS YEKDVAKINQ DPQVMLAPLI SIALKVSQLQ 
           560 
    ERTGRTAPTV IT
    Length:562
    Mass (Da):61,449
    Last modified:January 23, 2007 - v3
    <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:i61A26C19107D467A
    GO
    Isoform 2 (identifier: P36871-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-77: MVKIVTVKTQ...KEAIQLIARI → MSDFEEWISG...KSAIETIVQM

    Show »
    Length:580
    Mass (Da):63,791
    Checksum:iCE4F9CA4094B5139
    GO
    Isoform 3 (identifier: P36871-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-197: Missing.

    Show »
    Length:365
    Mass (Da):40,283
    Checksum:iE0696E6FD7170D62
    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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    		Gene namesLengthAnnotation
    A0A3B3ITK7A0A3B3ITK7_HUMAN
    Phosphoglucomutase-1
    PGM1
    		584Annotation score:

    Annotation score:1 out of 5

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

    <p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

    The sequence AAH90856 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti134S → C in AAH67763 (PubMed:15489334).Curated1

    <p>This subsection of the 'Sequence' section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement%5Fin%5Fdisease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

    Many polymorphic variants of PGM1 exist. 8 different alleles are known: PGM1*1+, PGM1*1-, PGM1*2+, PGM1*2-, PGM1*3+, PGM1*3-, PGM1*7+ and PGM1*7-. The sequence of PGM1*1+ is shown here.

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_07163519T → A in CDG1T; reduces strongly phosphoglucomutase activity. 2 PublicationsCorresponds to variant dbSNP:rs1320810473Ensembl.1
    Natural variantiVAR_07163638N → Y in CDG1T; reduces strongly solubility; increases aggregation. 2 PublicationsCorresponds to variant dbSNP:rs587777402EnsemblClinVar.1
    Natural variantiVAR_07163741Q → R in CDG1T; reduces solubility; increases aggregation. 2 PublicationsCorresponds to variant dbSNP:rs1300651770EnsemblClinVar.1
    Natural variantiVAR_07163862D → H in CDG1T; reduces solubility; reduces strongly phosphoglucomutase activity. 2 PublicationsCorresponds to variant dbSNP:rs587777403EnsemblClinVar.1
    Natural variantiVAR_00609068K → M in allele PGM1*7+, allele PGM1*7-, allele PGM1*3+ and allele PGM1*3-; phosphoglucomutase activity is similar to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs200390982Ensembl.1
    Natural variantiVAR_05049688I → V. Corresponds to variant dbSNP:rs855314EnsemblClinVar.1
    Natural variantiVAR_062280115T → A in CDG1T; reduces mildly phosphoglucomutase activity. 3 PublicationsCorresponds to variant dbSNP:rs121918371EnsemblClinVar.1
    Natural variantiVAR_069219121G → R in CDG1T; there is 7% enzyme residual phosphoglucomutase activity. 3 PublicationsCorresponds to variant dbSNP:rs398122912EnsemblClinVar.1
    Natural variantiVAR_006091221R → C in allele PGM1*2+, allele PGM1*2-, allele PGM1*3+ and allele PGM1*3-; phosphoglucomutase activity is similar to wild-type. 5 PublicationsCorresponds to variant dbSNP:rs1126728EnsemblClinVar.1
    Natural variantiVAR_071639263D → G in CDG1T; reduces strongly phosphoglucomutase activity. 2 PublicationsCorresponds to variant dbSNP:rs1465877146Ensembl.1
    Natural variantiVAR_071640263D → Y in CDG1T; reduces strongly phosphoglucomutase activity. 2 PublicationsCorresponds to variant dbSNP:rs587777404EnsemblClinVar.1
    Natural variantiVAR_071641291G → R in CDG1T; reduces strongly phosphoglucomutase activity. 3 PublicationsCorresponds to variant dbSNP:rs772768778Ensembl.1
    Natural variantiVAR_071642330G → R in CDG1T; decreases mildly solubility. 2 PublicationsCorresponds to variant dbSNP:rs777164338Ensembl.1
    Natural variantiVAR_071643377E → K in CDG1T; decreases strongly solubility. 2 Publications1
    Natural variantiVAR_071644388E → K in CDG1T; decreases strongly solubility. 2 PublicationsCorresponds to variant dbSNP:rs1301021797Ensembl.1
    Natural variantiVAR_006092420Y → H in allele PGM1*1-, allele PGM1*2-, allele PGM1*3- and allele PGM1*7-; phosphoglucomutase activity is similar to wild-type. 6 PublicationsCorresponds to variant dbSNP:rs11208257EnsemblClinVar.1
    Natural variantiVAR_034380501V → I. Corresponds to variant dbSNP:rs6676290EnsemblClinVar.1
    Natural variantiVAR_071645516L → P in CDG1T; decreases strongly solubility. 2 PublicationsCorresponds to variant dbSNP:rs587777401EnsemblClinVar.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_0452041 – 197Missing in isoform 3. 1 PublicationAdd BLAST197
    Alternative sequenceiVSP_0046861 – 77MVKIV…LIARI → MSDFEEWISGTYRKMEEGPL PLLTFATAPYHDQKPGTSGL RKKTYYFEEKPCYLENFIQS IFFSIDLKDRQGSSLVVGGD GRYFNKSAIETIVQM in isoform 2. CuratedAdd BLAST77

    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
    		M83088 mRNA Translation: AAA60080.1
    BT006961 mRNA Translation: AAP35607.1
    AK298505 mRNA Translation: BAG60712.1
    AK312254 mRNA Translation: BAG35186.1
    AL109925 Genomic DNA No translation available.
    BC001756 mRNA Translation: AAH01756.3
    BC019920 mRNA Translation: AAH19920.1
    BC067763 mRNA Translation: AAH67763.2
    BC090856 mRNA Translation: AAH90856.1 Different initiation.
    S67989 Genomic DNA Translation: AAB29177.2
    S67998 Genomic DNA Translation: AAB29178.1

    The Consensus CDS (CCDS) project

    More...    CCDSi    		CCDS53323.1 [P36871-2]
    CCDS53324.1 [P36871-3]
    CCDS625.1 [P36871-1]

    Protein sequence database of the Protein Information Resource

    More...    PIRi    		A41801
    S39397

    NCBI Reference Sequences

    More...    RefSeqi    		NP_001166289.1, NM_001172818.1 [P36871-2]
    NP_001166290.1, NM_001172819.1 [P36871-3]
    NP_002624.2, NM_002633.2 [P36871-1]

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...    Ensembli    		ENST00000371083; ENSP00000360124; ENSG00000079739 [P36871-2]
    ENST00000371084; ENSP00000360125; ENSG00000079739 [P36871-1]
    ENST00000540265; ENSP00000443449; ENSG00000079739 [P36871-3]

    Database of genes from NCBI RefSeq genomes

    More...    GeneIDi    		5236

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...    KEGGi    		hsa:5236

    UCSC genome browser

    More...    UCSCi    		uc001dbh.5, human [P36871-1]

    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
    		M83088 mRNA Translation: AAA60080.1
    BT006961 mRNA Translation: AAP35607.1
    AK298505 mRNA Translation: BAG60712.1
    AK312254 mRNA Translation: BAG35186.1
    AL109925 Genomic DNA No translation available.
    BC001756 mRNA Translation: AAH01756.3
    BC019920 mRNA Translation: AAH19920.1
    BC067763 mRNA Translation: AAH67763.2
    BC090856 mRNA Translation: AAH90856.1 Different initiation.
    S67989 Genomic DNA Translation: AAB29177.2
    S67998 Genomic DNA Translation: AAB29178.1
    CCDSiCCDS53323.1 [P36871-2]
    CCDS53324.1 [P36871-3]
    CCDS625.1 [P36871-1]
    PIRiA41801
    S39397
    RefSeqiNP_001166289.1, NM_001172818.1 [P36871-2]
    NP_001166290.1, NM_001172819.1 [P36871-3]
    NP_002624.2, NM_002633.2 [P36871-1]

    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
    5EPCX-ray1.85A/B1-562[»]
    5F9CX-ray2.50A/B1-562[»]
    5HSHX-ray2.65A/B1-562[»]
    5JN5X-ray1.75A/B1-562[»]
    5TR2X-ray2.50A/B1-562[»]
    5VBIX-ray1.75A/B1-562[»]
    5VECX-ray2.20A/B1-562[»]
    5VG7X-ray1.95A/B1-562[»]
    5VINX-ray2.60A/B1-562[»]
    6SNOX-ray2.70A2-562[»]
    6SNPX-ray2.75A2-562[»]
    6SNQX-ray2.70A2-562[»]
    6UIQX-ray2.30A/B1-562[»]
    6UO6X-ray2.15A/B1-562[»]
    SMRiP36871
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGRIDi111256, 72 interactors
    DIPiDIP-60903N
    IntActiP36871, 34 interactors
    STRINGi9606.ENSP00000360124

    Chemistry databases

    DrugBankiDB02835, Alpha-D-Glucose 1,6-Bisphosphate
    DB04397, Alpha-D-Glucose-1-Phosphate-6-Vanadate
    DB06773, Human calcitonin

    PTM databases

    iPTMnetiP36871
    MetOSiteiP36871
    PhosphoSitePlusiP36871
    SwissPalmiP36871

    Polymorphism and mutation databases

    BioMutaiPGM1
    DMDMi585670

    2D gel databases

    REPRODUCTION-2DPAGEiP36871

    Proteomic databases

    CPTACiCPTAC-255
    CPTAC-256
    CPTAC-988
    EPDiP36871
    jPOSTiP36871
    MassIVEiP36871
    MaxQBiP36871
    PeptideAtlasiP36871
    PRIDEiP36871
    ProteomicsDBi4816
    55222 [P36871-1]
    55223 [P36871-2]
    TopDownProteomicsiP36871-1 [P36871-1]

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...    Antibodypediai    		3314, 228 antibodies

    The DNASU plasmid repository

    More...    DNASUi    		5236

    Genome annotation databases

    EnsembliENST00000371083; ENSP00000360124; ENSG00000079739 [P36871-2]
    ENST00000371084; ENSP00000360125; ENSG00000079739 [P36871-1]
    ENST00000540265; ENSP00000443449; ENSG00000079739 [P36871-3]
    GeneIDi5236
    KEGGihsa:5236
    UCSCiuc001dbh.5, human [P36871-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...    CTDi    		5236
    DisGeNETi5236
    EuPathDBiHostDB:ENSG00000079739.15

    GeneCards: human genes, protein and diseases

    More...    GeneCardsi    		PGM1
    GeneReviewsiPGM1
    HGNCiHGNC:8905, PGM1
    HPAiENSG00000079739, Tissue enriched (skeletal)
    MalaCardsiPGM1
    MIMi171900, gene
    614921, phenotype
    neXtProtiNX_P36871
    OpenTargetsiENSG00000079739
    Orphaneti319646, PGM1-CDG
    PharmGKBiPA33242

    GenAtlas: human gene database

    More...    GenAtlasi    		Search...

    Phylogenomic databases

    eggNOGiKOG0625, Eukaryota
    GeneTreeiENSGT00940000155542
    HOGENOMiCLU_009330_0_1_1
    InParanoidiP36871
    OMAiDIYKIYA
    OrthoDBi446752at2759
    PhylomeDBiP36871
    TreeFamiTF300350

    Enzyme and pathway databases

    BioCyciMetaCyc:HS01335-MONOMER
    PathwayCommonsiP36871
    ReactomeiR-HSA-3322077, Glycogen synthesis
    R-HSA-5609974, Defective PGM1 causes PGM1-CDG (CDG1t)
    R-HSA-6798695, Neutrophil degranulation
    SABIO-RKiP36871
    SIGNORiP36871

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...    BioGRID-ORCSi    		5236, 3 hits in 843 CRISPR screens

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

    More...    ChiTaRSi    		PGM1, human

    The Gene Wiki collection of pages on human genes and proteins

    More...    GeneWikii    		PGM1

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

    More...    GenomeRNAii    		5236
    PharosiP36871, Tbio

    Protein Ontology

    More...    PROi    		PR:P36871
    RNActiP36871, protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...    SOURCEi    		Search...

    Gene expression databases

    BgeeiENSG00000079739, Expressed in skeletal muscle tissue and 245 other tissues
    ExpressionAtlasiP36871, baseline and differential
    GenevisibleiP36871, HS

    Family and domain databases

    InterProiView protein in InterPro
    IPR005844, A-D-PHexomutase_a/b/a-I
    IPR016055, A-D-PHexomutase_a/b/a-I/II/III
    IPR005845, A-D-PHexomutase_a/b/a-II
    IPR005846, A-D-PHexomutase_a/b/a-III
    IPR005843, A-D-PHexomutase_C
    IPR036900, A-D-PHexomutase_C_sf
    IPR016066, A-D-PHexomutase_CS
    IPR005841, Alpha-D-phosphohexomutase_SF
    PfamiView protein in Pfam
    PF02878, PGM_PMM_I, 1 hit
    PF02879, PGM_PMM_II, 1 hit
    PF02880, PGM_PMM_III, 1 hit
    PF00408, PGM_PMM_IV, 1 hit
    PRINTSiPR00509, PGMPMM
    SUPFAMiSSF53738, SSF53738, 3 hits
    SSF55957, SSF55957, 1 hit
    PROSITEiView protein in PROSITE
    PS00710, PGM_PMM, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...    ProtoNeti    		Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...    MobiDBi    		Search...

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

    <p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPGM1_HUMAN
    <p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P36871
    Secondary accession number(s): B2R5N9
    , B4DPV0, Q16105, Q16106, Q5BKZ9, Q6NW22, Q86U74, Q96J40, Q9NTY4
    <p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
    Last sequence update: January 23, 2007
    Last modified: December 2, 2020
    This is version 207 of the entry and version 3 of the sequence. See complete history.
    <p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

    Keywords - Technical termi

    3D-structure, Reference proteome

    Documents

    1. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    4. SIMILARITY comments
      Index of protein domains and families
    5. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    6. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
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