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Protein

Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase

Gene

MAN1B1

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 glycoprotein quality control targeting of misfolded glycoproteins for degradation. It primarily trims a single alpha-1,2-linked mannose residue from Man9GlcNAc2 to produce Man8GlcNAc2, but at high enzyme concentrations, as found in the ER quality control compartment (ERQC), it further trims the carbohydrates to Man5-6GlcNAc2.2 Publications

Caution

It is uncertain whether Met-1 or Met-37 is the initiator.Curated

<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

Ca2+By similarity

<p>This subsection of the ‘Function’ 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

Inhibited by both 1-deoxymannojirimycin (dMNJ) and kifunensine.1 Publication

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=0.4 mM for Man9GlcNAc21 Publication

    pH dependencei

    Optimum pH is between 6.5 and 6.9.1 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: protein glycosylation

    This protein is involved in the pathway protein glycosylation, which is part of Protein modification.By similarity
    View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei330Proton donorCurated1
    Active sitei463Curated1
    Active sitei570Proton donorBy similarity1
    Active sitei599Curated1
    <p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi688CalciumBy similarity1

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

    • calcium ion binding Source: UniProtKB
    • mannosyl-oligosaccharide 1,2-alpha-mannosidase activity Source: UniProtKB

    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 functionGlycosidase, Hydrolase
    LigandCalcium, Metal-binding

    Enzyme and pathway databases

    BioCyc Collection of Pathway/Genome Databases

    More...
    BioCyci
    MetaCyc:HS11144-MONOMER

    BRENDA Comprehensive Enzyme Information System

    More...
    BRENDAi
    3.2.1.113 2681

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-4793950 Defective MAN1B1 causes MRT15
    R-HSA-901032 ER Quality Control Compartment (ERQC)

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...
    SABIO-RKi
    Q9UKM7

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

    More...
    UniPathwayi
    UPA00378

    Protein family/group databases

    Carbohydrate-Active enZymes

    More...
    CAZyi
    GH47 Glycoside Hydrolase Family 47

    <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:
    Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase (EC:3.2.1.1133 Publications)
    Alternative name(s):
    ER alpha-1,2-mannosidase
    ER mannosidase 1
    Short name:
    ERMan1
    Man9GlcNAc2-specific-processing alpha-mannosidase
    Mannosidase alpha class 1B member 1
    <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:MAN1B1
    ORF Names:UNQ747/PRO1477
    <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 9

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000177239.14

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:6823 MAN1B1

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    604346 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q9UKM7

    <p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

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

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 84CytoplasmicSequence analysisAdd BLAST84
    <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei85 – 105Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
    Topological domaini106 – 699LumenalSequence analysisAdd BLAST594

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    <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

    Mental retardation, autosomal recessive 15 (MRT15)1 Publication
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
    See also OMIM:614202
    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_066592334R → C in MRT15; results in about 1300-fold decrease in activity. 1 PublicationCorresponds to variant dbSNP:rs387906886EnsemblClinVar.1
    Natural variantiVAR_066593397E → K in MRT15; disrupts stable protein expression. 1 PublicationCorresponds to variant dbSNP:rs387906885EnsemblClinVar.1

    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>Mutagenesisi330E → Q: About 44-fold reduction in K(cat), slight reduction in K(m), about 100-fold increase in binding affinity for Man(9)GlcnAc(2) but no change in binding affinity for the inhibitor, dMNJ. Even further greater reduction in K(cat) and increase in K(m); when associated with Q-599. 1 Publication1
    Mutagenesisi463D → N: Some reduction in K(cat) but no change in K(m), abolishes almost all binding to Man(9)GlcnAc(2) but reduced binding to the inhibitor dMNJ by about 73-fold. Further reduction in K(m) but slight increase in K(m); when associated with Q-599. 1 Publication1
    Mutagenesisi524H → A: About 4-fold reduction in K(cat). 1 Publication1
    Mutagenesisi599E → Q: Very significant reduction in K(cat), 4-fold weaker binding affinity for Man(9)GlcnAc(2) but about 1000-fold reduction in binding affinity for the inhibitor, dMNJ. Significant reductions in K(cat) and slight increase in K(m); when associated with E-330 or N-463. 1 Publication1

    Keywords - Diseasei

    Disease mutation, Mental retardation

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    11253

    MalaCards human disease database

    More...
    MalaCardsi
    MAN1B1
    MIMi614202 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000177239

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

    More...
    Orphaneti
    88616 Autosomal recessive non-syndromic intellectual disability
    397941 MAN1B1-CDG

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA30572

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...
    ChEMBLi
    CHEMBL2308

    Drug and drug target database

    More...
    DrugBanki
    DB03206 Duvoglustat
    DB02742 Kifunensine
    DB02422 Methyl-2-S-(Alpha-D-Mannopyranosyl)-2-Thio-Alpha-D-Mannopyranoside

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    MAN1B1

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    93195043

    <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_00002103141 – 699Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidaseAdd BLAST699

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi527 ↔ 5561 Publication

    Keywords - PTMi

    Disulfide bond

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    Q9UKM7

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    Q9UKM7

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

    More...
    PaxDbi
    Q9UKM7

    PeptideAtlas

    More...
    PeptideAtlasi
    Q9UKM7

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q9UKM7

    ProteomicsDB human proteome resource

    More...
    ProteomicsDBi
    84820

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q9UKM7

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

    More...
    PhosphoSitePlusi
    Q9UKM7

    SwissPalm database of S-palmitoylation events

    More...
    SwissPalmi
    Q9UKM7

    <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.2 Publications

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000177239 Expressed in 215 organ(s), highest expression level in left adrenal gland

    CleanEx database of gene expression profiles

    More...
    CleanExi
    HS_MAN1B1

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q9UKM7 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q9UKM7 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA051516

    <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

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    116414, 9 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    Q9UKM7, 4 interactors

    Molecular INTeraction database

    More...
    MINTi
    Q9UKM7

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000360645

    Chemistry databases

    BindingDB database of measured binding affinities

    More...
    BindingDBi
    Q9UKM7

    <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

    1699
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

    More...
    ProteinModelPortali
    Q9UKM7

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

    More...
    SMRi
    Q9UKM7

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    Search...

    Miscellaneous databases

    Relative evolutionary importance of amino acids within a protein sequence

    More...
    EvolutionaryTracei
    Q9UKM7

    <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

    Compositional bias

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi39 – 45Poly-Pro7

    <p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

    Belongs to the glycosyl hydrolase 47 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG2431 Eukaryota
    ENOG410XP04 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000155422

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000181987

    The HOVERGEN Database of Homologous Vertebrate Genes

    More...
    HOVERGENi
    HBG052389

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q9UKM7

    KEGG Orthology (KO)

    More...
    KOi
    K01230

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    DHLTCYL

    Database of Orthologous Groups

    More...
    OrthoDBi
    EOG091G0342

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q9UKM7

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF354274

    Family and domain databases

    Gene3D Structural and Functional Annotation of Protein Families

    More...
    Gene3Di
    1.50.10.10, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR012341 6hp_glycosidase-like_sf
    IPR001382 Glyco_hydro_47
    IPR036026 Seven-hairpin_glycosidases

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF01532 Glyco_hydro_47, 1 hit

    Protein Motif fingerprint database; a protein domain database

    More...
    PRINTSi
    PR00747 GLYHDRLASE47

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF48225 SSF48225, 1 hit

    <p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>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.

    This entry has 1 described isoform and 7 potential isoforms that are computationally mapped.Show allAlign All

    Q9UKM7-1 [UniParc]FASTAAdd to basket
    « Hide
            10         20         30         40         50
    MAACEGRRSG ALGSSQSDFL TPPVGGAPWA VATTVVMYPP PPPPPHRDFI
    60 70 80 90 100
    SVTLSFGENY DNSKSWRRRS CWRKWKQLSR LQRNMILFLL AFLLFCGLLF
    110 120 130 140 150
    YINLADHWKA LAFRLEEEQK MRPEIAGLKP ANPPVLPAPQ KADTDPENLP
    160 170 180 190 200
    EISSQKTQRH IQRGPPHLQI RPPSQDLKDG TQEEATKRQE APVDPRPEGD
    210 220 230 240 250
    PQRTVISWRG AVIEPEQGTE LPSRRAEVPT KPPLPPARTQ GTPVHLNYRQ
    260 270 280 290 300
    KGVIDVFLHA WKGYRKFAWG HDELKPVSRS FSEWFGLGLT LIDALDTMWI
    310 320 330 340 350
    LGLRKEFEEA RKWVSKKLHF EKDVDVNLFE STIRILGGLL SAYHLSGDSL
    360 370 380 390 400
    FLRKAEDFGN RLMPAFRTPS KIPYSDVNIG TGVAHPPRWT SDSTVAEVTS
    410 420 430 440 450
    IQLEFRELSR LTGDKKFQEA VEKVTQHIHG LSGKKDGLVP MFINTHSGLF
    460 470 480 490 500
    THLGVFTLGA RADSYYEYLL KQWIQGGKQE TQLLEDYVEA IEGVRTHLLR
    510 520 530 540 550
    HSEPSKLTFV GELAHGRFSA KMDHLVCFLP GTLALGVYHG LPASHMELAQ
    560 570 580 590 600
    ELMETCYQMN RQMETGLSPE IVHFNLYPQP GRRDVEVKPA DRHNLLRPET
    610 620 630 640 650
    VESLFYLYRV TGDRKYQDWG WEILQSFSRF TRVPSGGYSS INNVQDPQKP
    660 670 680 690
    EPRDKMESFF LGETLKYLFL LFSDDPNLLS LDAYVFNTEA HPLPIWTPA
    Length:699
    Mass (Da):79,580
    Last modified:March 7, 2006 - v2
    <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:iB8BF3BE333D90261
    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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    H0YG20H0YG20_HUMAN
    alpha-1,2-Mannosidase
    MAN1B1
    695Annotation score:

    Annotation score:2 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    H0YGV7H0YGV7_HUMAN
    alpha-1,2-Mannosidase
    MAN1B1
    550Annotation score:

    Annotation score:2 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    H0YI64H0YI64_HUMAN
    Endoplasmic reticulum mannosyl-olig...
    MAN1B1
    270Annotation 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>
    H0YIU0H0YIU0_HUMAN
    Endoplasmic reticulum mannosyl-olig...
    MAN1B1
    124Annotation 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>
    H0YGQ1H0YGQ1_HUMAN
    Endoplasmic reticulum mannosyl-olig...
    MAN1B1
    182Annotation 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>
    A0A087X064A0A087X064_HUMAN
    Endoplasmic reticulum mannosyl-olig...
    MAN1B1
    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>
    H0YFU3H0YFU3_HUMAN
    Endoplasmic reticulum mannosyl-olig...
    MAN1B1
    52Annotation 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>

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti204T → A in AAD45504 (PubMed:10409699).Curated1
    Sequence conflicti223S → P in AAD45504 (PubMed:10409699).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_05584159N → S4 PublicationsCorresponds to variant dbSNP:rs968733EnsemblClinVar.1
    Natural variantiVAR_066592334R → C in MRT15; results in about 1300-fold decrease in activity. 1 PublicationCorresponds to variant dbSNP:rs387906886EnsemblClinVar.1
    Natural variantiVAR_066593397E → K in MRT15; disrupts stable protein expression. 1 PublicationCorresponds to variant dbSNP:rs387906885EnsemblClinVar.1

    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
    AF148509 mRNA Translation: AAF03215.1
    AF145732 mRNA Translation: AAD45504.1
    AY358465 mRNA Translation: AAQ88830.1
    AL929554 Genomic DNA No translation available.
    AL807752 Genomic DNA No translation available.
    BC002953 mRNA Translation: AAH02953.1
    BC006079 mRNA Translation: AAH06079.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS7029.1

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_057303.2, NM_016219.4

    UniGene gene-oriented nucleotide sequence clusters

    More...
    UniGenei
    Hs.279881

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000371589; ENSP00000360645; ENSG00000177239

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    11253

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:11253

    UCSC genome browser

    More...
    UCSCi
    uc004cld.3 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
    AF148509 mRNA Translation: AAF03215.1
    AF145732 mRNA Translation: AAD45504.1
    AY358465 mRNA Translation: AAQ88830.1
    AL929554 Genomic DNA No translation available.
    AL807752 Genomic DNA No translation available.
    BC002953 mRNA Translation: AAH02953.1
    BC006079 mRNA Translation: AAH06079.1
    CCDSiCCDS7029.1
    RefSeqiNP_057303.2, NM_016219.4
    UniGeneiHs.279881

    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
    1FMIX-ray1.90A243-697[»]
    1FO2X-ray2.38A243-699[»]
    1FO3X-ray1.75A243-699[»]
    1X9DX-ray1.41A172-699[»]
    5KIJX-ray1.65A245-696[»]
    5KK7X-ray1.73A/B245-699[»]
    ProteinModelPortaliQ9UKM7
    SMRiQ9UKM7
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi116414, 9 interactors
    IntActiQ9UKM7, 4 interactors
    MINTiQ9UKM7
    STRINGi9606.ENSP00000360645

    Chemistry databases

    BindingDBiQ9UKM7
    ChEMBLiCHEMBL2308
    DrugBankiDB03206 Duvoglustat
    DB02742 Kifunensine
    DB02422 Methyl-2-S-(Alpha-D-Mannopyranosyl)-2-Thio-Alpha-D-Mannopyranoside

    Protein family/group databases

    CAZyiGH47 Glycoside Hydrolase Family 47

    PTM databases

    iPTMnetiQ9UKM7
    PhosphoSitePlusiQ9UKM7
    SwissPalmiQ9UKM7

    Polymorphism and mutation databases

    BioMutaiMAN1B1
    DMDMi93195043

    Proteomic databases

    EPDiQ9UKM7
    MaxQBiQ9UKM7
    PaxDbiQ9UKM7
    PeptideAtlasiQ9UKM7
    PRIDEiQ9UKM7
    ProteomicsDBi84820

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    11253
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000371589; ENSP00000360645; ENSG00000177239
    GeneIDi11253
    KEGGihsa:11253
    UCSCiuc004cld.3 human

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    11253
    DisGeNETi11253
    EuPathDBiHostDB:ENSG00000177239.14

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    MAN1B1

    H-Invitational Database, human transcriptome db

    More...
    H-InvDBi
    HIX0035043
    HGNCiHGNC:6823 MAN1B1
    HPAiHPA051516
    MalaCardsiMAN1B1
    MIMi604346 gene
    614202 phenotype
    neXtProtiNX_Q9UKM7
    OpenTargetsiENSG00000177239
    Orphaneti88616 Autosomal recessive non-syndromic intellectual disability
    397941 MAN1B1-CDG
    PharmGKBiPA30572

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG2431 Eukaryota
    ENOG410XP04 LUCA
    GeneTreeiENSGT00940000155422
    HOGENOMiHOG000181987
    HOVERGENiHBG052389
    InParanoidiQ9UKM7
    KOiK01230
    OMAiDHLTCYL
    OrthoDBiEOG091G0342
    PhylomeDBiQ9UKM7
    TreeFamiTF354274

    Enzyme and pathway databases

    UniPathwayi
    UPA00378

    BioCyciMetaCyc:HS11144-MONOMER
    BRENDAi3.2.1.113 2681
    ReactomeiR-HSA-4793950 Defective MAN1B1 causes MRT15
    R-HSA-901032 ER Quality Control Compartment (ERQC)
    SABIO-RKiQ9UKM7

    Miscellaneous databases

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

    More...
    ChiTaRSi
    MAN1B1 human
    EvolutionaryTraceiQ9UKM7

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    MAN1B1

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

    More...
    GenomeRNAii
    11253

    Protein Ontology

    More...
    PROi
    PR:Q9UKM7

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000177239 Expressed in 215 organ(s), highest expression level in left adrenal gland
    CleanExiHS_MAN1B1
    ExpressionAtlasiQ9UKM7 baseline and differential
    GenevisibleiQ9UKM7 HS

    Family and domain databases

    Gene3Di1.50.10.10, 1 hit
    InterProiView protein in InterPro
    IPR012341 6hp_glycosidase-like_sf
    IPR001382 Glyco_hydro_47
    IPR036026 Seven-hairpin_glycosidases
    PfamiView protein in Pfam
    PF01532 Glyco_hydro_47, 1 hit
    PRINTSiPR00747 GLYHDRLASE47
    SUPFAMiSSF48225 SSF48225, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    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 nameiMA1B1_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: Q9UKM7
    Secondary accession number(s): Q5VSG3, Q9BRS9, Q9Y5K7
    <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 16, 2001
    Last sequence update: March 7, 2006
    Last modified: December 5, 2018
    This is version 182 of the entry and version 2 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 9
      Human chromosome 9: 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. Glycosyl hydrolases
      Classification of glycosyl hydrolase families and list of entries
    5. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    6. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    7. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    8. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    UniProt is an ELIXIR core data resource
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