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UniProtKB - Q9UKM7 (MA1B1_HUMAN)

Entry version 200 (02 Jun 2021)
Sequence version 2 (07 Mar 2006)
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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%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

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

Ca2+By similarity

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

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%5Fsection">'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 <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei330Proton donorCurated1
    Active sitei463Curated1
    Active sitei570Proton donorBy similarity1
    Active sitei599Curated1
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal 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
    Complete GO annotation on QuickGO ...

    GO - Biological processi

    Complete GO annotation on QuickGO ...

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

    Molecular 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
    3.2.1.209, 2681

    Pathway Commons web resource for biological pathway data

    More...    PathwayCommonsi    		Q9UKM7

    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)
    R-HSA-9694548, Maturation of spike protein

    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%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
    Recommended name:
    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%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
    Name:MAN1B1
    ORF Names:UNQ747/PRO1477
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
    • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

    Organism-specific databases

    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

    Eukaryotic Pathogen, Vector and Host Database Resources

    More...    VEuPathDBi    		HostDB:ENSG00000177239.14

    <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

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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%5Flocation%5Fsection">'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

    Rafiq syndrome (RAFQS)1 Publication
    The disease is caused by variants affecting the gene represented in this entry.
    Disease descriptionAn autosomal recessive disorder characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia. The facial dysmorphism comprises prominent eyebrows with lateral thinning, downward-slanting palpebral fissures, bulbous tip of the nose, large ears, and a thin upper lip. Behavioral problems, including overeating, verbal and physical aggression, have been reported in some cases. Serum transferrin isoelectric focusing shows a type 2 pattern.
    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_066592334R → C in RAFQS; results in about 1300-fold decrease in activity. 1 PublicationCorresponds to variant dbSNP:rs387906886EnsemblClinVar.1
    Natural variantiVAR_066593397E → K in RAFQS; 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%5Fand%5Fbiotech%5Fsection">'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 variant, 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

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...    Pharosi    		Q9UKM7, Tchem

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...    ChEMBLi    		CHEMBL2308

    Drug and drug target database

    More...    DrugBanki    		DB01955, 1,4-Butanediol
    DB03206, Duvoglustat
    DB02742, Kifunensine
    DB02422, Methyl-2-S-(Alpha-D-Mannopyranosyl)-2-Thio-Alpha-D-Mannopyranoside

    Genetic variation 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 or proteolytic cleavage.<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

    jPOST - Japan Proteome Standard Repository/Database

    More...    jPOSTi    		Q9UKM7

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...    MassIVEi    		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: a multi-organism proteome resource

    More...    ProteomicsDBi    		84820

    PTM databases

    GlyGen: Computational and Informatics Resources for Glycoscience

    More...    GlyGeni    		Q9UKM7, 4 sites, 2 O-linked glycans (3 sites)

    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 stromal cell of endometrium and 227 other tissues

    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    		ENSG00000177239, Low tissue specificity

    <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, 50 interactors

    Protein interaction database and analysis system

    More...    IntActi    		Q9UKM7, 10 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

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...    RNActi    		Q9UKM7, protein

    <p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

    Secondary structure

    1699
    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    		Q9UKM7

    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    		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

    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>Regioni125 – 243DisorderedSequence analysisAdd BLAST119

    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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi147 – 162Polar residuesSequence analysisAdd BLAST16
    Compositional biasi177 – 197Basic and acidic residuesSequence analysisAdd BLAST21

    <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

    Ensembl GeneTree

    More...    GeneTreei    		ENSGT00940000155422

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...    HOGENOMi    		CLU_003818_3_3_1

    InParanoid: Eukaryotic Ortholog Groups

    More...    InParanoidi    		Q9UKM7

    Identification of Orthologs from Complete Genome Data

    More...    OMAi    		RKHLVTY

    Database of Orthologous Groups

    More...    OrthoDBi    		693882at2759

    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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

    This entry 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>
    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>
    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>
    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 RAFQS; results in about 1300-fold decrease in activity. 1 PublicationCorresponds to variant dbSNP:rs387906886EnsemblClinVar.1
    Natural variantiVAR_066593397E → K in RAFQS; 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

    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

    <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

    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[»]
    SMRiQ9UKM7
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGRIDi116414, 50 interactors
    IntActiQ9UKM7, 10 interactors
    MINTiQ9UKM7
    STRINGi9606.ENSP00000360645

    Chemistry databases

    BindingDBiQ9UKM7
    ChEMBLiCHEMBL2308
    DrugBankiDB01955, 1,4-Butanediol
    DB03206, 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

    GlyGeniQ9UKM7, 4 sites, 2 O-linked glycans (3 sites)
    iPTMnetiQ9UKM7
    PhosphoSitePlusiQ9UKM7
    SwissPalmiQ9UKM7

    Genetic variation databases

    BioMutaiMAN1B1
    DMDMi93195043

    Proteomic databases

    EPDiQ9UKM7
    jPOSTiQ9UKM7
    MassIVEiQ9UKM7
    MaxQBiQ9UKM7
    PaxDbiQ9UKM7
    PeptideAtlasiQ9UKM7
    PRIDEiQ9UKM7
    ProteomicsDBi84820

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...    Antibodypediai    		32359, 142 antibodies

    The DNASU plasmid repository

    More...    DNASUi    		11253

    Genome annotation databases

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

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...    CTDi    		11253
    DisGeNETi11253

    GeneCards: human genes, protein and diseases

    More...    GeneCardsi    		MAN1B1
    HGNCiHGNC:6823, MAN1B1
    HPAiENSG00000177239, Low tissue specificity
    MalaCardsiMAN1B1
    MIMi604346, gene
    614202, phenotype
    neXtProtiNX_Q9UKM7
    OpenTargetsiENSG00000177239
    Orphaneti88616, Autosomal recessive non-syndromic intellectual disability
    397941, MAN1B1-CDG
    PharmGKBiPA30572
    VEuPathDBiHostDB:ENSG00000177239.14

    GenAtlas: human gene database

    More...    GenAtlasi    		Search...

    Phylogenomic databases

    eggNOGiKOG2431, Eukaryota
    GeneTreeiENSGT00940000155422
    HOGENOMiCLU_003818_3_3_1
    InParanoidiQ9UKM7
    OMAiRKHLVTY
    OrthoDBi693882at2759
    PhylomeDBiQ9UKM7
    TreeFamiTF354274

    Enzyme and pathway databases

    UniPathwayiUPA00378
    BioCyciMetaCyc:HS11144-MONOMER
    BRENDAi3.2.1.113, 2681
    3.2.1.209, 2681
    PathwayCommonsiQ9UKM7
    ReactomeiR-HSA-4793950, Defective MAN1B1 causes MRT15
    R-HSA-901032, ER Quality Control Compartment (ERQC)
    R-HSA-9694548, Maturation of spike protein
    SABIO-RKiQ9UKM7

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...    BioGRID-ORCSi    		11253, 7 hits in 992 CRISPR screens

    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
    PharosiQ9UKM7, Tchem

    Protein Ontology

    More...    PROi    		PR:Q9UKM7
    RNActiQ9UKM7, protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...    SOURCEi    		Search...

    Gene expression databases

    BgeeiENSG00000177239, Expressed in stromal cell of endometrium and 227 other tissues
    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

    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 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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
    Last sequence update: March 7, 2006
    Last modified: June 2, 2021
    This is version 200 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, Reference proteome

    Documents

    1. Glycosyl hydrolases
      Classification of glycosyl hydrolase families and list of entries
    2. Human chromosome 9
      Human chromosome 9: entries, gene names and cross-references to MIM
    3. Human entries with genetic variants
      List of human entries with genetic variants
    4. Human variants curated from literature reports
      Index of human variants curated from literature reports
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    7. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    8. SIMILARITY comments
      Index of protein domains and families
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