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Entry version 188 (16 Oct 2019)
Sequence version 4 (16 Jan 2019)
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Protein

Methionine synthase reductase

Gene

MTRR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Involved in the reductive regeneration of cob(I)alamin (vitamin B12) cofactor required for the maintenance of methionine synthase in a functional state. Necessary for utilization of methylgroups from the folate cycle, thereby affecting transgenerational epigenetic inheritance. Folate pathway donates methyl groups necessary for cellular methylation and affects different pathways such as DNA methylation, possibly explaining the transgenerational epigenetic inheritance effects.1 Publication

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

<p>This subsection of the ‘Function’ section 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

Protein has several cofactor binding sites:

<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=2.89 µM for NADPH1 Publication
  2. KM=3540 µM for NADH1 Publication

    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 sitei291NADP1 Publication1
    Binding sitei659NADP1 Publication1
    Binding sitei697FAD1 Publication1

    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 bindingi93 – 124FMNPROSITE-ProRule annotationAdd BLAST32
    Nucleotide bindingi451 – 454FAD1 Publication4
    Nucleotide bindingi487 – 490FAD1 Publication4
    Nucleotide bindingi610 – 611NADP1 Publication2
    Nucleotide bindingi624 – 626NADP1 Publication3

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

    GO - Biological processi

    <p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

    Molecular functionOxidoreductase
    Biological processAmino-acid biosynthesis, Methionine biosynthesis
    LigandFAD, Flavoprotein, FMN, NADP, S-adenosyl-L-methionine

    Enzyme and pathway databases

    BioCyc Collection of Pathway/Genome Databases

    More...
    BioCyci
    MetaCyc:HS04756-MONOMER

    BRENDA Comprehensive Enzyme Information System

    More...
    BRENDAi
    1.16.1.8 2681

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-156581 Methylation
    R-HSA-1614635 Sulfur amino acid metabolism
    R-HSA-196741 Cobalamin (Cbl, vitamin B12) transport and metabolism
    R-HSA-3359467 Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE
    R-HSA-3359469 Defective MTR causes methylmalonic aciduria and homocystinuria type cblG

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...
    SABIO-RKi
    Q9UBK8

    <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:
    Methionine synthase reductase (EC:1.16.1.81 Publication)
    Short name:
    MSR
    <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:MTRR
    <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 5

    Organism-specific databases

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:7473 MTRR

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    602568 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q9UBK8

    <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

    Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE)2 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAn autosomal recessive inborn error of metabolism resulting from defects in the cobalamin-dependent pathway that converts homocysteine to methionine. It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia. Cells from patients with HMAE fail to incorporate methyltetrahydrofolate into methionine in whole cells, but cell extracts show normal methionine synthase activity in the presence of a reducing agent.
    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_01283754Missing in HMAE. 1 Publication1
    Natural variantiVAR_01283856V → M in HMAE. 1 PublicationCorresponds to variant dbSNP:rs761061866Ensembl.1
    Natural variantiVAR_012839129A → T in HMAE. 1 Publication1
    Natural variantiVAR_012841405C → R in HMAE. 1 Publication1
    Natural variantiVAR_012842487G → R in HMAE. 1 PublicationCorresponds to variant dbSNP:rs137853061EnsemblClinVar.1
    Natural variantiVAR_015731554G → R in HMAE. 1 Publication1
    Natural variantiVAR_012843576Missing in HMAE. 1 Publication1
    Neural tube defects, folate-sensitive (NTDFS)2 Publications
    Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Disease descriptionThe most common NTDs are open spina bifida (myelomeningocele) and anencephaly.
    Related information in OMIM

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    4552

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

    More...
    GeneReviewsi
    MTRR

    MalaCards human disease database

    More...
    MalaCardsi
    MTRR
    MIMi236270 phenotype
    601634 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000124275

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

    More...
    Orphaneti
    2169 Methylcobalamin deficiency type cblE

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA31277

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...
    Pharosi
    Q9UBK8

    Chemistry databases

    Drug and drug target database

    More...
    DrugBanki
    DB00115 Cyanocobalamin
    DB00200 Hydroxocobalamin
    DB00134 Methionine

    DrugCentral

    More...
    DrugCentrali
    Q9UBK8

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    MTRR

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    296439300

    <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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000217851 – 698Methionine synthase reductaseAdd BLAST698

    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 residuei171PhosphoserineCombined sources1
    Modified residuei189PhosphoserineCombined sources1

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    Q9UBK8

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    Q9UBK8

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    Q9UBK8

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    Q9UBK8

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

    More...
    PaxDbi
    Q9UBK8

    PeptideAtlas

    More...
    PeptideAtlasi
    Q9UBK8

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q9UBK8

    ProteomicsDB: a multi-organism proteome resource

    More...
    ProteomicsDBi
    83984 [Q9UBK8-1]
    83985 [Q9UBK8-2]

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q9UBK8

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

    More...
    PhosphoSitePlusi
    Q9UBK8

    SwissPalm database of S-palmitoylation events

    More...
    SwissPalmi
    Q9UBK8

    <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

    Found in all tissues tested, particularly abundant in skeletal muscle.

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000124275 Expressed in 223 organ(s), highest expression level in corpus callosum

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q9UBK8 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q9UBK8 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA038113

    <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%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

    WithEntry#Exp.IntActNotes
    FLJ13057Q53SE73EBI-10319161,EBI-10172181

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    110645, 14 interactors

    Database of interacting proteins

    More...
    DIPi
    DIP-61183N

    Protein interaction database and analysis system

    More...
    IntActi
    Q9UBK8, 9 interactors

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000264668

    <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

    1698
    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
    Q9UBK8

    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
    Q9UBK8

    <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

    Domains and Repeats

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini5 – 147Flavodoxin-likePROSITE-ProRule annotationAdd BLAST143
    Domaini271 – 533FAD-binding FR-typePROSITE-ProRule annotationAdd BLAST263

    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>Regioni166 – 247HingeAdd BLAST82

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG1158 Eukaryota
    COG0369 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000155822

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000007485

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q9UBK8

    KEGG Orthology (KO)

    More...
    KOi
    K00597

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    FIMVGPG

    Database of Orthologous Groups

    More...
    OrthoDBi
    1436007at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q9UBK8

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF105716

    Family and domain databases

    Gene3D Structural and Functional Annotation of Protein Families

    More...
    Gene3Di
    1.20.990.10, 1 hit
    3.40.50.360, 1 hit
    3.40.50.80, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR003097 CysJ-like_FAD-binding
    IPR017927 FAD-bd_FR_type
    IPR001094 Flavdoxin-like
    IPR008254 Flavodoxin/NO_synth
    IPR001709 Flavoprot_Pyr_Nucl_cyt_Rdtase
    IPR029039 Flavoprotein-like_sf
    IPR039261 FNR_nucleotide-bd
    IPR023173 NADPH_Cyt_P450_Rdtase_alpha
    IPR001433 OxRdtase_FAD/NAD-bd
    IPR017938 Riboflavin_synthase-like_b-brl

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF00667 FAD_binding_1, 1 hit
    PF00258 Flavodoxin_1, 1 hit
    PF00175 NAD_binding_1, 1 hit

    Protein Motif fingerprint database; a protein domain database

    More...
    PRINTSi
    PR00369 FLAVODOXIN
    PR00371 FPNCR

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF52218 SSF52218, 1 hit
    SSF52343 SSF52343, 1 hit
    SSF63380 SSF63380, 1 hit

    PROSITE; a protein domain and family database

    More...
    PROSITEi
    View protein in PROSITE
    PS51384 FAD_FR, 1 hit
    PS50902 FLAVODOXIN_LIKE, 1 hit

    <p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

    This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 2 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

    Isoform B (identifier: Q9UBK8-2) [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
    MRRFLLLYAT QQGQAKAIAE EICEQAVVHG FSADLHCISE SDKYDLKTET
    60 70 80 90 100
    APLVVVVSTT GTGDPPDTAR KFVKEIQNQT LPVDFFAHLR YGLLGLGDSE
    110 120 130 140 150
    YTYFCNGGKI IDKRLQELGA RHFYDTGHAD DCVGLELVVE PWIAGLWPAL
    160 170 180 190 200
    RKHFRSSRGQ EEISGALPVA SPASSRTDLV KSELLHIESQ VELLRFDDSG
    210 220 230 240 250
    RKDSEVLKQN AVNSNQSNVV IEDFESSLTR SVPPLSQASL NIPGLPPEYL
    260 270 280 290 300
    QVHLQESLGQ EESQVSVTSA DPVFQVPISK AVQLTTNDAI KTTLLVELDI
    310 320 330 340 350
    SNTDFSYQPG DAFSVICPNS DSEVQSLLQR LQLEDKREHC VLLKIKADTK
    360 370 380 390 400
    KKGATLPQHI PAGCSLQFIF TWCLEIRAIP KKAFLRALVD YTSDSAEKRR
    410 420 430 440 450
    LQELCSKQGA ADYSRFVRDA CACLLDLLLA FPSCQPPLSL LLEHLPKLQP
    460 470 480 490 500
    RPYSCASSSL FHPGKLHFVF NIVEFLSTAT TEVLRKGVCT GWLALLVASV
    510 520 530 540 550
    LQPNIHASHE DSGKALAPKI SISPRTTNSF HLPDDPSIPI IMVGPGTGIA
    560 570 580 590 600
    PFIGFLQHRE KLQEQHPDGN FGAMWLFFGC RHKDRDYLFR KELRHFLKHG
    610 620 630 640 650
    ILTHLKVSFS RDAPVGEEEA PAKYVQDNIQ LHGQQVARIL LQENGHIYVC
    660 670 680 690
    GDAKNMAKDV HDALVQIISK EVGVEKLEAM KTLATLKEEK RYLQDIWS
    Length:698
    Mass (Da):77,674
    Last modified:January 16, 2019 - v4
    <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:iD4B394F0B24A07E5
    GO
    Isoform A (identifier: Q9UBK8-1) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MGAASVRAGARLVEVALCSFTVTCLEVM

    Show »
    Length:725
    Mass (Da):80,410
    Checksum:iC3EF82DAC388BAF1
    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 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    D6RAZ2D6RAZ2_HUMAN
    Methionine synthase reductase
    MTRR
    156Annotation 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>
    D6RGC7D6RGC7_HUMAN
    Methionine synthase reductase
    MTRR
    112Annotation 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>
    H0Y8S9H0Y8S9_HUMAN
    Methionine synthase reductase
    MTRR
    372Annotation 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>
    D6RF21D6RF21_HUMAN
    Methionine synthase reductase
    MTRR
    92Annotation 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>
    H0Y963H0Y963_HUMAN
    Methionine synthase reductase
    MTRR
    115Annotation 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>
    D6RAY3D6RAY3_HUMAN
    Methionine synthase reductase
    MTRR
    46Annotation 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>
    D6RIS8D6RIS8_HUMAN
    Methionine synthase reductase
    MTRR
    41Annotation 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>
    H0Y9D5H0Y9D5_HUMAN
    Methionine synthase reductase
    MTRR
    160Annotation 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>
    H0Y9Q0H0Y9Q0_HUMAN
    Methionine synthase reductase
    MTRR
    81Annotation 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>
    A0A3P9MRF3A0A3P9MRF3_HUMAN
    Methionine synthase reductase
    MTRR
    58Annotation 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_01283622I → M Polymorphism; may increase risk for spina bifida. 3 PublicationsCorresponds to variant dbSNP:rs1801394EnsemblClinVar.1
    Natural variantiVAR_01283754Missing in HMAE. 1 Publication1
    Natural variantiVAR_01283856V → M in HMAE. 1 PublicationCorresponds to variant dbSNP:rs761061866Ensembl.1
    Natural variantiVAR_012839129A → T in HMAE. 1 Publication1
    Natural variantiVAR_034595175S → LCombined sources3 PublicationsCorresponds to variant dbSNP:rs1532268EnsemblClinVar.1
    Natural variantiVAR_034596257S → T. Corresponds to variant dbSNP:rs2303080EnsemblClinVar.1
    Natural variantiVAR_012840333L → V1 PublicationCorresponds to variant dbSNP:rs10064631EnsemblClinVar.1
    Natural variantiVAR_034597350K → R1 PublicationCorresponds to variant dbSNP:rs162036EnsemblClinVar.1
    Natural variantiVAR_012841405C → R in HMAE. 1 Publication1
    Natural variantiVAR_034598415R → C. Corresponds to variant dbSNP:rs2287780EnsemblClinVar.1
    Natural variantiVAR_034599450P → R. Corresponds to variant dbSNP:rs16879334EnsemblClinVar.1
    Natural variantiVAR_012842487G → R in HMAE. 1 PublicationCorresponds to variant dbSNP:rs137853061EnsemblClinVar.1
    Natural variantiVAR_056947515A → V. Corresponds to variant dbSNP:rs16879355EnsemblClinVar.1
    Natural variantiVAR_015731554G → R in HMAE. 1 Publication1
    Natural variantiVAR_012843576Missing in HMAE. 1 Publication1
    Natural variantiVAR_014944595H → Y. Corresponds to variant dbSNP:rs10380EnsemblClinVar.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_0600271M → MGAASVRAGARLVEVALCSF TVTCLEVM in isoform A. 3 Publications1

    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
    AF121213
    , AF121202, AF121203, AF121204, AF121205, AF121206, AF121207, AF121208, AF121209, AF121210, AF121211, AF121212 Genomic DNA Translation: AAF17303.1
    AF121214 mRNA Translation: AAF16876.1
    AF121213
    , AF121202, AF121203, AF121204, AF121205, AF121206, AF121207, AF121208, AF121209, AF121210, AF121211, AF121212 Genomic DNA Translation: AAF17304.1
    AF025794 mRNA Translation: AAC39667.1
    AC010346 Genomic DNA No translation available.
    AC025174 Genomic DNA No translation available.
    BC054816 mRNA Translation: AAH54816.2
    BC109216 mRNA Translation: AAI09217.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS3874.1 [Q9UBK8-2]
    CCDS47190.1 [Q9UBK8-2]

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_002445.2, NM_002454.2 [Q9UBK8-2]
    NP_076915.2, NM_024010.2 [Q9UBK8-2]

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000264668; ENSP00000264668; ENSG00000124275 [Q9UBK8-1]
    ENST00000440940; ENSP00000402510; ENSG00000124275 [Q9UBK8-2]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    4552

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:4552

    UCSC genome browser

    More...
    UCSCi
    uc003jed.4 human [Q9UBK8-2]

    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

    <p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

    Protein Spotlight

    The hidden things - Issue 166 of December 2014

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AF121213
    , AF121202, AF121203, AF121204, AF121205, AF121206, AF121207, AF121208, AF121209, AF121210, AF121211, AF121212 Genomic DNA Translation: AAF17303.1
    AF121214 mRNA Translation: AAF16876.1
    AF121213
    , AF121202, AF121203, AF121204, AF121205, AF121206, AF121207, AF121208, AF121209, AF121210, AF121211, AF121212 Genomic DNA Translation: AAF17304.1
    AF025794 mRNA Translation: AAC39667.1
    AC010346 Genomic DNA No translation available.
    AC025174 Genomic DNA No translation available.
    BC054816 mRNA Translation: AAH54816.2
    BC109216 mRNA Translation: AAI09217.1
    CCDSiCCDS3874.1 [Q9UBK8-2]
    CCDS47190.1 [Q9UBK8-2]
    RefSeqiNP_002445.2, NM_002454.2 [Q9UBK8-2]
    NP_076915.2, NM_024010.2 [Q9UBK8-2]

    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
    2QTLX-ray1.90A165-698[»]
    2QTZX-ray1.90A165-698[»]
    SMRiQ9UBK8
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGridi110645, 14 interactors
    DIPiDIP-61183N
    IntActiQ9UBK8, 9 interactors
    STRINGi9606.ENSP00000264668

    Chemistry databases

    DrugBankiDB00115 Cyanocobalamin
    DB00200 Hydroxocobalamin
    DB00134 Methionine
    DrugCentraliQ9UBK8

    PTM databases

    iPTMnetiQ9UBK8
    PhosphoSitePlusiQ9UBK8
    SwissPalmiQ9UBK8

    Polymorphism and mutation databases

    BioMutaiMTRR
    DMDMi296439300

    Proteomic databases

    EPDiQ9UBK8
    jPOSTiQ9UBK8
    MassIVEiQ9UBK8
    MaxQBiQ9UBK8
    PaxDbiQ9UBK8
    PeptideAtlasiQ9UBK8
    PRIDEiQ9UBK8
    ProteomicsDBi83984 [Q9UBK8-1]
    83985 [Q9UBK8-2]

    Genome annotation databases

    EnsembliENST00000264668; ENSP00000264668; ENSG00000124275 [Q9UBK8-1]
    ENST00000440940; ENSP00000402510; ENSG00000124275 [Q9UBK8-2]
    GeneIDi4552
    KEGGihsa:4552
    UCSCiuc003jed.4 human [Q9UBK8-2]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    4552
    DisGeNETi4552

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    MTRR
    GeneReviewsiMTRR
    HGNCiHGNC:7473 MTRR
    HPAiHPA038113
    MalaCardsiMTRR
    MIMi236270 phenotype
    601634 phenotype
    602568 gene
    neXtProtiNX_Q9UBK8
    OpenTargetsiENSG00000124275
    Orphaneti2169 Methylcobalamin deficiency type cblE
    PharmGKBiPA31277

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG1158 Eukaryota
    COG0369 LUCA
    GeneTreeiENSGT00940000155822
    HOGENOMiHOG000007485
    InParanoidiQ9UBK8
    KOiK00597
    OMAiFIMVGPG
    OrthoDBi1436007at2759
    PhylomeDBiQ9UBK8
    TreeFamiTF105716

    Enzyme and pathway databases

    BioCyciMetaCyc:HS04756-MONOMER
    BRENDAi1.16.1.8 2681
    ReactomeiR-HSA-156581 Methylation
    R-HSA-1614635 Sulfur amino acid metabolism
    R-HSA-196741 Cobalamin (Cbl, vitamin B12) transport and metabolism
    R-HSA-3359467 Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE
    R-HSA-3359469 Defective MTR causes methylmalonic aciduria and homocystinuria type cblG
    SABIO-RKiQ9UBK8

    Miscellaneous databases

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

    More...
    ChiTaRSi
    MTRR human
    EvolutionaryTraceiQ9UBK8

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    MTRR_(gene)

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

    More...
    GenomeRNAii
    4552
    PharosiQ9UBK8

    Protein Ontology

    More...
    PROi
    PR:Q9UBK8

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000124275 Expressed in 223 organ(s), highest expression level in corpus callosum
    ExpressionAtlasiQ9UBK8 baseline and differential
    GenevisibleiQ9UBK8 HS

    Family and domain databases

    Gene3Di1.20.990.10, 1 hit
    3.40.50.360, 1 hit
    3.40.50.80, 1 hit
    InterProiView protein in InterPro
    IPR003097 CysJ-like_FAD-binding
    IPR017927 FAD-bd_FR_type
    IPR001094 Flavdoxin-like
    IPR008254 Flavodoxin/NO_synth
    IPR001709 Flavoprot_Pyr_Nucl_cyt_Rdtase
    IPR029039 Flavoprotein-like_sf
    IPR039261 FNR_nucleotide-bd
    IPR023173 NADPH_Cyt_P450_Rdtase_alpha
    IPR001433 OxRdtase_FAD/NAD-bd
    IPR017938 Riboflavin_synthase-like_b-brl
    PfamiView protein in Pfam
    PF00667 FAD_binding_1, 1 hit
    PF00258 Flavodoxin_1, 1 hit
    PF00175 NAD_binding_1, 1 hit
    PRINTSiPR00369 FLAVODOXIN
    PR00371 FPNCR
    SUPFAMiSSF52218 SSF52218, 1 hit
    SSF52343 SSF52343, 1 hit
    SSF63380 SSF63380, 1 hit
    PROSITEiView protein in PROSITE
    PS51384 FAD_FR, 1 hit
    PS50902 FLAVODOXIN_LIKE, 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 nameiMTRR_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: Q9UBK8
    Secondary accession number(s): O60471, Q32MA9, Q7Z4M8
    <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: March 27, 2002
    Last sequence update: January 16, 2019
    Last modified: October 16, 2019
    This is version 188 of the entry and version 4 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 5
      Human chromosome 5: entries, gene names and cross-references to MIM
    2. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    3. Protein Spotlight
      Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
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