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Entry version 146 (16 Oct 2019)
Sequence version 1 (01 Mar 2003)
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Protein

Methylmalonic aciduria type A protein, mitochondrial

Gene

MMAA

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

GTPase, binds and hydrolyzes GTP (PubMed:28497574, PubMed:20876572). Involved in intracellular vitamin B12 metabolism, mediates the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis. Functions as a G-protein chaperone that assists AdoCbl cofactor delivery from MMAB to the methylmalonyl-CoA mutase (MMUT) and reactivation of the enzyme during catalysis (PubMed:28497574, PubMed:20876572).2 Publications

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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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

GTPase activity is stimulated by MMUT.2 Publications

<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

kcat is 0.201 min(-1) for GTP hydrolysis (PubMed:28497574). kcat is 0.03 min(-1) for GTP hydrolysis (PubMed:20876572).2 Publications
  1. KM=42 µM for GTP1 Publication
  2. KM=330 µM for GTP1 Publication
  3. KM=74 µM for GTP (in presence of MMUT)1 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: adenosylcobalamin biosynthesis

    This protein is involved in the pathway adenosylcobalamin biosynthesis, which is part of Cofactor biosynthesis.2 Publications
    View all proteins of this organism that are known to be involved in the pathway adenosylcobalamin biosynthesis and in Cofactor biosynthesis.

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei292GTP1

    Regions

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi150 – 158GTP9
    Nucleotide bindingi328 – 330GTP3

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

    GO - Biological processi

    • cobalamin biosynthetic process Source: UniProtKB-UniPathway
    • cobalamin metabolic process Source: UniProtKB
    • short-chain fatty acid catabolic process Source: Reactome

    <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 functionChaperone, Hydrolase
    LigandGTP-binding, Nucleotide-binding

    Enzyme and pathway databases

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-196741 Cobalamin (Cbl, vitamin B12) transport and metabolism
    R-HSA-3359475 Defective MMAA causes methylmalonic aciduria type cblA
    R-HSA-3359478 Defective MUT causes methylmalonic aciduria mut type
    R-HSA-71032 Propionyl-CoA catabolism

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

    More...
    UniPathwayi
    UPA00148

    <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:
    Methylmalonic aciduria type A protein, mitochondrialCurated (EC:3.6.-.-2 Publications)
    <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:MMAAImported
    <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 4

    Organism-specific databases

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:18871 MMAA

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    607481 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q8IVH4

    <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

    Mitochondrion

    <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

    Methylmalonic aciduria type cblA (MMAA)7 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin.
    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_08000422 – 418Missing in MMAA. 2 PublicationsAdd BLAST397
    Natural variantiVAR_08000524 – 418Missing in MMAA. 1 PublicationAdd BLAST395
    Natural variantiVAR_08000654 – 418Missing in MMAA. 1 PublicationAdd BLAST365
    Natural variantiVAR_08000768 – 418Missing in MMAA. 1 PublicationAdd BLAST351
    Natural variantiVAR_02083589L → P in MMAA; abolishes protein levels; decreases protein stability. 2 PublicationsCorresponds to variant dbSNP:rs864309726EnsemblClinVar.1
    Natural variantiVAR_08000895 – 418Missing in MMAA. 1 PublicationAdd BLAST324
    Natural variantiVAR_08000998R → G in MMAA; decreases protein levels; no effect on binding to GDP; decreases by 55% GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 1 Publication1
    Natural variantiVAR_080010100 – 104Missing in MMAA. 1 Publication5
    Natural variantiVAR_080011120 – 418Missing in MMAA. 1 PublicationAdd BLAST299
    Natural variantiVAR_080012129 – 418Missing in MMAA. 1 PublicationAdd BLAST290
    Natural variantiVAR_080013133 – 418Missing in MMAA. 1 PublicationAdd BLAST286
    Natural variantiVAR_080014145 – 418Missing in MMAA. 3 PublicationsAdd BLAST274
    Natural variantiVAR_020836145R → Q in MMAA; highly decreases protein levels; decreases protein stability. 2 PublicationsCorresponds to variant dbSNP:rs200577967Ensembl.1
    Natural variantiVAR_080015147G → E in MMAA; highly decreases protein levels; decreases protein stability; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 2 Publications1
    Natural variantiVAR_080016188G → R in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 3 PublicationsCorresponds to variant dbSNP:rs864309729EnsemblClinVar.1
    Natural variantiVAR_080017192G → D in MMAA; no effect on protein levels; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; reduces release of AdoCbl by MMAB. 1 PublicationCorresponds to variant dbSNP:rs1553958392EnsemblClinVar.1
    Natural variantiVAR_080018196 – 418Missing in MMAA. 1 PublicationAdd BLAST223
    Natural variantiVAR_080019196R → Q in MMAA; unknown pathological significance; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; reduces release of AdoCbl by MMAB. 1 PublicationCorresponds to variant dbSNP:rs144389160EnsemblClinVar.1
    Natural variantiVAR_017202207Y → C in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 3 PublicationsCorresponds to variant dbSNP:rs104893849EnsemblClinVar.1
    Natural variantiVAR_071919209R → S in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 2 Publications1
    Natural variantiVAR_020837218G → E in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 2 PublicationsCorresponds to variant dbSNP:rs864309730EnsemblClinVar.1
    Natural variantiVAR_080020220V → M in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 1 PublicationCorresponds to variant dbSNP:rs150376474EnsemblClinVar.1
    Natural variantiVAR_080021241I → F in MMAA; highly decreases protein levels; decreases protein stability. 1 Publication1
    Natural variantiVAR_080022243T → N in MMAA; no effect on protein levels; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 1 PublicationCorresponds to variant dbSNP:rs1553958417EnsemblClinVar.1
    Natural variantiVAR_080023248 – 418Missing in MMAA. 2 PublicationsAdd BLAST171
    Natural variantiVAR_071920250E → K in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; reduces release of AdoCbl by MMAB. 2 Publications1
    Natural variantiVAR_080024258D → N in MMAA; highly decreases protein levels. 1 Publication1
    Natural variantiVAR_071921274G → D in MMAA. 1 Publication1
    Natural variantiVAR_071922274G → S in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; slightly reduces release of AdoCbl by MMAB. 2 Publications1
    Natural variantiVAR_071923276K → E in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; reduces release of AdoCbl by MMAB. 2 Publications1
    Natural variantiVAR_080025287A → D in MMAA; highly decreases protein levels; decreases protein stability. 1 PublicationCorresponds to variant dbSNP:rs1553959024EnsemblClinVar.1
    Natural variantiVAR_080026292D → V in MMAA; decreases protein levels; highly decreases binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 1 PublicationCorresponds to variant dbSNP:rs1553959025EnsemblClinVar.1
    Natural variantiVAR_080027320 – 418Missing in MMAA. 1 PublicationAdd BLAST99
    Natural variantiVAR_080028330 – 418Missing in MMAA. 2 PublicationsAdd BLAST89
    Natural variantiVAR_080029359 – 418Missing in MMAA. 1 PublicationAdd BLAST60
    Natural variantiVAR_038804359R → G in MMAA; decreases protein levels; decreases protein stability; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; reduces release of AdoCbl by MMAB. 2 Publications1
    Natural variantiVAR_020838359R → Q in MMAA; decreases protein levels. 3 PublicationsCorresponds to variant dbSNP:rs864309731EnsemblClinVar.1
    Natural variantiVAR_080030399G → V in MMAA; highly decreases protein levels; decreases protein stability. 1 Publication1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi290K → A: Abolishes binding to GTP and GTPase activity; when associated with A-292. 1 Publication1
    Mutagenesisi292D → A: Abolishes binding to GTP and GTPase activity; when associated with A-290. 1 Publication1

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    166785

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

    More...
    GeneReviewsi
    MMAA

    MalaCards human disease database

    More...
    MalaCardsi
    MMAA
    MIMi251100 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000151611

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

    More...
    Orphaneti
    79310 Vitamin B12-responsive methylmalonic acidemia type cblA

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA134912808

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...
    Pharosi
    Q8IVH4

    Chemistry databases

    Drug and drug target database

    More...
    DrugBanki
    DB00115 Cyanocobalamin
    DB00200 Hydroxocobalamin

    DrugCentral

    More...
    DrugCentrali
    Q8IVH4

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    MMAA

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    38258173

    <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 transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 65MitochondrionSequence analysisAdd BLAST65
    <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_000000228566 – 418Methylmalonic aciduria type A protein, mitochondrialAdd BLAST353

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    Q8IVH4

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    Q8IVH4

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    Q8IVH4

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    Q8IVH4

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

    More...
    PaxDbi
    Q8IVH4

    PeptideAtlas

    More...
    PeptideAtlasi
    Q8IVH4

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q8IVH4

    ProteomicsDB: a multi-organism proteome resource

    More...
    ProteomicsDBi
    70708

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q8IVH4

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

    More...
    PhosphoSitePlusi
    Q8IVH4

    SwissPalm database of S-palmitoylation events

    More...
    SwissPalmi
    Q8IVH4

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

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

    Widely expressed. Highest expression is observed in liver and skeletal muscle.

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000151611 Expressed in 194 organ(s), highest expression level in secondary oocyte

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q8IVH4 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q8IVH4 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA037361

    <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 (PubMed:20876572).

    Interacts with MMUT (the apoenzyme form); the interaction is GTP dependent (PubMed:20876572, PubMed:28497574).

    2 Publications

    GO - Molecular functioni

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    127933, 3 interactors

    CORUM comprehensive resource of mammalian protein complexes

    More...
    CORUMi
    Q8IVH4

    Protein interaction database and analysis system

    More...
    IntActi
    Q8IVH4, 2 interactors

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000281317

    <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

    1418
    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
    Q8IVH4

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    Protein Data Bank in Europe - Knowledge Base

    More...
    PDBe-KBi
    Search...

    Miscellaneous databases

    Relative evolutionary importance of amino acids within a protein sequence

    More...
    EvolutionaryTracei
    Q8IVH4

    <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

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    ENOG410IFVS Eukaryota
    COG1703 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00390000009908

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q8IVH4

    KEGG Orthology (KO)

    More...
    KOi
    K07588

    Database of Orthologous Groups

    More...
    OrthoDBi
    817699at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q8IVH4

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF313243

    Family and domain databases

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR005129 GTPase_ArgK
    IPR027417 P-loop_NTPase

    The PANTHER Classification System

    More...
    PANTHERi
    PTHR23408 PTHR23408, 1 hit

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF52540 SSF52540, 1 hit

    TIGRFAMs; a protein family database

    More...
    TIGRFAMsi
    TIGR00750 lao, 1 hit

    <p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)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 has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

    Q8IVH4-1 [UniParc]FASTAAdd to basket
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    MPMLLPHPHQ HFLKGLLRAP FRCYHFIFHS STHLGSGIPC AQPFNSLGLH
    60 70 80 90 100
    CTKWMLLSDG LKRKLCVQTT LKDHTEGLSD KEQRFVDKLY TGLIQGQRAC
    110 120 130 140 150
    LAEAITLVES THSRKKELAQ VLLQKVLLYH REQEQSNKGK PLAFRVGLSG
    160 170 180 190 200
    PPGAGKSTFI EYFGKMLTER GHKLSVLAVD PSSCTSGGSL LGDKTRMTEL
    210 220 230 240 250
    SRDMNAYIRP SPTRGTLGGV TRTTNEAILL CEGAGYDIIL IETVGVGQSE
    260 270 280 290 300
    FAVADMVDMF VLLLPPAGGD ELQGIKRGII EMADLVAVTK SDGDLIVPAR
    310 320 330 340 350
    RIQAEYVSAL KLLRKRSQVW KPKVIRISAR SGEGISEMWD KMKDFQDLML
    360 370 380 390 400
    ASGELTAKRR KQQKVWMWNL IQESVLEHFR THPTVREQIP LLEQKVLIGA
    410
    LSPGLAADFL LKAFKSRD
    Length:418
    Mass (Da):46,538
    Last modified:March 1, 2003 - 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:iAD9EA19DDB8DEEF8
    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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    Q495G5Q495G5_HUMAN
    MMAA protein
    MMAA
    424Annotation 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>
    D6RIS5D6RIS5_HUMAN
    Methylmalonic aciduria type A prote...
    MMAA
    260Annotation 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>
    A0A3B3ITP4A0A3B3ITP4_HUMAN
    Methylmalonic aciduria type A prote...
    MMAA
    396Annotation 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>
    A0A3B3IRG3A0A3B3IRG3_HUMAN
    Methylmalonic aciduria type A prote...
    MMAA
    167Annotation 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>

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_08000422 – 418Missing in MMAA. 2 PublicationsAdd BLAST397
    Natural variantiVAR_08000524 – 418Missing in MMAA. 1 PublicationAdd BLAST395
    Natural variantiVAR_08000654 – 418Missing in MMAA. 1 PublicationAdd BLAST365
    Natural variantiVAR_08000768 – 418Missing in MMAA. 1 PublicationAdd BLAST351
    Natural variantiVAR_02083589L → P in MMAA; abolishes protein levels; decreases protein stability. 2 PublicationsCorresponds to variant dbSNP:rs864309726EnsemblClinVar.1
    Natural variantiVAR_08000895 – 418Missing in MMAA. 1 PublicationAdd BLAST324
    Natural variantiVAR_08000998R → G in MMAA; decreases protein levels; no effect on binding to GDP; decreases by 55% GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 1 Publication1
    Natural variantiVAR_080010100 – 104Missing in MMAA. 1 Publication5
    Natural variantiVAR_080011120 – 418Missing in MMAA. 1 PublicationAdd BLAST299
    Natural variantiVAR_080012129 – 418Missing in MMAA. 1 PublicationAdd BLAST290
    Natural variantiVAR_080013133 – 418Missing in MMAA. 1 PublicationAdd BLAST286
    Natural variantiVAR_080014145 – 418Missing in MMAA. 3 PublicationsAdd BLAST274
    Natural variantiVAR_020836145R → Q in MMAA; highly decreases protein levels; decreases protein stability. 2 PublicationsCorresponds to variant dbSNP:rs200577967Ensembl.1
    Natural variantiVAR_080015147G → E in MMAA; highly decreases protein levels; decreases protein stability; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 2 Publications1
    Natural variantiVAR_080016188G → R in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 3 PublicationsCorresponds to variant dbSNP:rs864309729EnsemblClinVar.1
    Natural variantiVAR_080017192G → D in MMAA; no effect on protein levels; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; reduces release of AdoCbl by MMAB. 1 PublicationCorresponds to variant dbSNP:rs1553958392EnsemblClinVar.1
    Natural variantiVAR_080018196 – 418Missing in MMAA. 1 PublicationAdd BLAST223
    Natural variantiVAR_080019196R → Q in MMAA; unknown pathological significance; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; reduces release of AdoCbl by MMAB. 1 PublicationCorresponds to variant dbSNP:rs144389160EnsemblClinVar.1
    Natural variantiVAR_017202207Y → C in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 3 PublicationsCorresponds to variant dbSNP:rs104893849EnsemblClinVar.1
    Natural variantiVAR_071919209R → S in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 2 Publications1
    Natural variantiVAR_020837218G → E in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 2 PublicationsCorresponds to variant dbSNP:rs864309730EnsemblClinVar.1
    Natural variantiVAR_080020220V → M in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 1 PublicationCorresponds to variant dbSNP:rs150376474EnsemblClinVar.1
    Natural variantiVAR_080021241I → F in MMAA; highly decreases protein levels; decreases protein stability. 1 Publication1
    Natural variantiVAR_080022243T → N in MMAA; no effect on protein levels; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 1 PublicationCorresponds to variant dbSNP:rs1553958417EnsemblClinVar.1
    Natural variantiVAR_080023248 – 418Missing in MMAA. 2 PublicationsAdd BLAST171
    Natural variantiVAR_071920250E → K in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; reduces release of AdoCbl by MMAB. 2 Publications1
    Natural variantiVAR_080024258D → N in MMAA; highly decreases protein levels. 1 Publication1
    Natural variantiVAR_071921274G → D in MMAA. 1 Publication1
    Natural variantiVAR_071922274G → S in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; slightly reduces release of AdoCbl by MMAB. 2 Publications1
    Natural variantiVAR_071923276K → E in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; reduces release of AdoCbl by MMAB. 2 Publications1
    Natural variantiVAR_080025287A → D in MMAA; highly decreases protein levels; decreases protein stability. 1 PublicationCorresponds to variant dbSNP:rs1553959024EnsemblClinVar.1
    Natural variantiVAR_080026292D → V in MMAA; decreases protein levels; highly decreases binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 1 PublicationCorresponds to variant dbSNP:rs1553959025EnsemblClinVar.1
    Natural variantiVAR_080027320 – 418Missing in MMAA. 1 PublicationAdd BLAST99
    Natural variantiVAR_080028330 – 418Missing in MMAA. 2 PublicationsAdd BLAST89
    Natural variantiVAR_080029359 – 418Missing in MMAA. 1 PublicationAdd BLAST60
    Natural variantiVAR_038804359R → G in MMAA; decreases protein levels; decreases protein stability; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; reduces release of AdoCbl by MMAB. 2 Publications1
    Natural variantiVAR_020838359R → Q in MMAA; decreases protein levels. 3 PublicationsCorresponds to variant dbSNP:rs864309731EnsemblClinVar.1
    Natural variantiVAR_020423363Q → H1 PublicationCorresponds to variant dbSNP:rs2270655EnsemblClinVar.1
    Natural variantiVAR_080030399G → V in MMAA; highly decreases protein levels; decreases protein stability. 1 Publication1

    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
    AF524846
    , AF524841, AF524842, AF524843, AF524844, AF524845 Genomic DNA Translation: AAN77287.1
    AK126662 mRNA Translation: BAG54352.1
    CH471056 Genomic DNA Translation: EAX05036.1
    BC101178 mRNA Translation: AAI01179.1
    BC101179 mRNA Translation: AAI01180.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS3766.1

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_758454.1, NM_172250.2
    XP_011529986.1, XM_011531684.2
    XP_011529987.1, XM_011531685.2

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000648388; ENSP00000497046; ENSG00000151611
    ENST00000649156; ENSP00000497008; ENSG00000151611
    ENST00000649704; ENSP00000497680; ENSG00000151611

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    166785

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:166785

    UCSC genome browser

    More...
    UCSCi
    uc003ikh.5 human

    Keywords - Coding sequence diversityi

    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
    AF524846
    , AF524841, AF524842, AF524843, AF524844, AF524845 Genomic DNA Translation: AAN77287.1
    AK126662 mRNA Translation: BAG54352.1
    CH471056 Genomic DNA Translation: EAX05036.1
    BC101178 mRNA Translation: AAI01179.1
    BC101179 mRNA Translation: AAI01180.1
    CCDSiCCDS3766.1
    RefSeqiNP_758454.1, NM_172250.2
    XP_011529986.1, XM_011531684.2
    XP_011529987.1, XM_011531685.2

    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
    2WWWX-ray2.64A/B/C/D72-418[»]
    SMRiQ8IVH4
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGridi127933, 3 interactors
    CORUMiQ8IVH4
    IntActiQ8IVH4, 2 interactors
    STRINGi9606.ENSP00000281317

    Chemistry databases

    DrugBankiDB00115 Cyanocobalamin
    DB00200 Hydroxocobalamin
    DrugCentraliQ8IVH4

    PTM databases

    iPTMnetiQ8IVH4
    PhosphoSitePlusiQ8IVH4
    SwissPalmiQ8IVH4

    Polymorphism and mutation databases

    BioMutaiMMAA
    DMDMi38258173

    Proteomic databases

    EPDiQ8IVH4
    jPOSTiQ8IVH4
    MassIVEiQ8IVH4
    MaxQBiQ8IVH4
    PaxDbiQ8IVH4
    PeptideAtlasiQ8IVH4
    PRIDEiQ8IVH4
    ProteomicsDBi70708

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    166785

    Genome annotation databases

    EnsembliENST00000648388; ENSP00000497046; ENSG00000151611
    ENST00000649156; ENSP00000497008; ENSG00000151611
    ENST00000649704; ENSP00000497680; ENSG00000151611
    GeneIDi166785
    KEGGihsa:166785
    UCSCiuc003ikh.5 human

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    166785
    DisGeNETi166785

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    MMAA
    GeneReviewsiMMAA
    HGNCiHGNC:18871 MMAA
    HPAiHPA037361
    MalaCardsiMMAA
    MIMi251100 phenotype
    607481 gene
    neXtProtiNX_Q8IVH4
    OpenTargetsiENSG00000151611
    Orphaneti79310 Vitamin B12-responsive methylmalonic acidemia type cblA
    PharmGKBiPA134912808

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiENOG410IFVS Eukaryota
    COG1703 LUCA
    GeneTreeiENSGT00390000009908
    InParanoidiQ8IVH4
    KOiK07588
    OrthoDBi817699at2759
    PhylomeDBiQ8IVH4
    TreeFamiTF313243

    Enzyme and pathway databases

    UniPathwayiUPA00148
    ReactomeiR-HSA-196741 Cobalamin (Cbl, vitamin B12) transport and metabolism
    R-HSA-3359475 Defective MMAA causes methylmalonic aciduria type cblA
    R-HSA-3359478 Defective MUT causes methylmalonic aciduria mut type
    R-HSA-71032 Propionyl-CoA catabolism

    Miscellaneous databases

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

    More...
    ChiTaRSi
    MMAA human
    EvolutionaryTraceiQ8IVH4

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    MMAA

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

    More...
    GenomeRNAii
    166785
    PharosiQ8IVH4

    Protein Ontology

    More...
    PROi
    PR:Q8IVH4

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000151611 Expressed in 194 organ(s), highest expression level in secondary oocyte
    ExpressionAtlasiQ8IVH4 baseline and differential
    GenevisibleiQ8IVH4 HS

    Family and domain databases

    InterProiView protein in InterPro
    IPR005129 GTPase_ArgK
    IPR027417 P-loop_NTPase
    PANTHERiPTHR23408 PTHR23408, 1 hit
    SUPFAMiSSF52540 SSF52540, 1 hit
    TIGRFAMsiTIGR00750 lao, 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 nameiMMAA_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: Q8IVH4
    Secondary accession number(s): B3KX40, Q495G7
    <p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 7, 2003
    Last sequence update: March 1, 2003
    Last modified: October 16, 2019
    This is version 146 of the entry and version 1 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, Complete proteome, Reference proteome

    Documents

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