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O00462

- MANBA_HUMAN

UniProt

O00462 - MANBA_HUMAN

Protein

Beta-mannosidase

Gene

MANBA

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 129 (01 Oct 2014)
      Sequence version 3 (16 Aug 2004)
      Previous versions | rss
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    Functioni

    Exoglycosidase that cleaves the single beta-linked mannose residue from the non-reducing end of all N-linked glycoprotein oligosaccharides.

    Catalytic activityi

    Hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D-mannosides.

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei457 – 4571Proton donorBy similarity

    GO - Molecular functioni

    1. beta-mannosidase activity Source: ProtInc
    2. mannose binding Source: Ensembl

    GO - Biological processi

    1. cellular protein modification process Source: UniProtKB
    2. glycoprotein catabolic process Source: Ensembl
    3. mannan catabolic process Source: InterPro

    Keywords - Molecular functioni

    Glycosidase, Hydrolase

    Enzyme and pathway databases

    UniPathwayiUPA00280.

    Protein family/group databases

    CAZyiGH2. Glycoside Hydrolase Family 2.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Beta-mannosidase (EC:3.2.1.25)
    Alternative name(s):
    Lysosomal beta A mannosidase
    Mannanase
    Short name:
    Mannase
    Gene namesi
    Name:MANBA
    Synonyms:MANB1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:6831. MANBA.

    Subcellular locationi

    GO - Cellular componenti

    1. intracellular membrane-bounded organelle Source: HPA
    2. lysosome Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Lysosome

    Pathology & Biotechi

    Involvement in diseasei

    Defects in MANBA are the cause of a mild disorder that affects peripheral and central nervous system myelin.
    Mannosidosis, beta A, lysosomal (MANSB) [MIM:248510]: An autosomal recessive lysosomal storage disease of glycoprotein catabolism. Clinical features are heterogeneous with a wide range of symptoms and age of onset. The disease is associated with a range of neurological involvement, including various degrees of mental retardation in most of the cases, hearing loss and speech impairment, hypotonia, epilepsy and peripheral neuropathy. Affected individuals have a profound reduction in beta A mannosidase activity in plasma, fibroblasts and leukocytes.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi248510. phenotype.
    Orphaneti118. Beta-mannosidosis.
    PharmGKBiPA30577.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1717Sequence AnalysisAdd
    BLAST
    Chaini18 – 879862Beta-mannosidasePRO_0000012166Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi28 – 281N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi35 – 351N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi77 – 771N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi280 – 2801N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi284 – 2841N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi297 – 2971N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi302 – 3021N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi763 – 7631N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiO00462.
    PaxDbiO00462.
    PeptideAtlasiO00462.
    PRIDEiO00462.

    PTM databases

    PhosphoSiteiO00462.

    Expressioni

    Gene expression databases

    ArrayExpressiO00462.
    BgeeiO00462.
    CleanExiHS_MANBA.
    GenevestigatoriO00462.

    Organism-specific databases

    HPAiHPA053478.

    Interactioni

    Protein-protein interaction databases

    BioGridi110299. 1 interaction.
    STRINGi9606.ENSP00000226578.

    Structurei

    3D structure databases

    ProteinModelPortaliO00462.
    SMRiO00462. Positions 25-857.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyl hydrolase 2 family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiCOG3250.
    HOGENOMiHOG000186862.
    HOVERGENiHBG052404.
    InParanoidiO00462.
    KOiK01192.
    OMAiQPFYIPY.
    OrthoDBiEOG7S7SD2.
    PhylomeDBiO00462.
    TreeFamiTF105723.

    Family and domain databases

    Gene3Di2.60.120.260. 2 hits.
    2.60.40.320. 1 hit.
    3.20.20.80. 2 hits.
    InterProiIPR008979. Galactose-bd-like.
    IPR013812. Glyco_hydro_2/20_Ig-like.
    IPR006102. Glyco_hydro_2_Ig-like.
    IPR006104. Glyco_hydro_2_N.
    IPR006103. Glyco_hydro_2_TIM.
    IPR013781. Glyco_hydro_catalytic_dom.
    IPR017853. Glycoside_hydrolase_SF.
    IPR028369. Mannanase.
    [Graphical view]
    PANTHERiPTHR10066:SF12. PTHR10066:SF12. 1 hit.
    PfamiPF02836. Glyco_hydro_2_C. 1 hit.
    PF02837. Glyco_hydro_2_N. 1 hit.
    [Graphical view]
    SUPFAMiSSF49303. SSF49303. 3 hits.
    SSF49785. SSF49785. 1 hit.
    SSF51445. SSF51445. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    O00462-1 [UniParc]FASTAAdd to Basket

    « Hide

    MRLHLLLLLA LCGAGTTAAE LSYSLRGNWS ICNGNGSLEL PGAVPGCVHS    50
    ALFQQGLIQD SYYRFNDLNY RWVSLDNWTY SKEFKIPFEI SKWQKVNLIL 100
    EGVDTVSKIL FNEVTIGETD NMFNRYSFDI TNVVRDVNSI ELRFQSAVLY 150
    AAQQSKAHTR YQVPPDCPPL VQKGECHVNF VRKEQCSFSW DWGPSFPTQG 200
    IWKDVRIEAY NICHLNYFTF SPIYDKSAQE WNLEIESTFD VVSSKPVGGQ 250
    VIVAIPKLQT QQTYSIELQP GKRIVELFVN ISKNITVETW WPHGHGNQTG 300
    YNMTVLFELD GGLNIEKSAK VYFRTVELIE EPIKGSPGLS FYFKINGFPI 350
    FLKGSNWIPA DSFQDRVTSE LLRLLLQSVV DANMNTLRVW GGGIYEQDEF 400
    YELCDELGIM VWQDFMFACA LYPTDQGFLD SVTAEVAYQI KRLKSHPSII 450
    IWSGNNENEE ALMMNWYHIS FTDRPIYIKD YVTLYVKNIR ELVLAGDKSR 500
    PFITSSPTNG AETVAEAWVS QNPNSNYFGD VHFYDYISDC WNWKVFPKAR 550
    FASEYGYQSW PSFSTLEKVS STEDWSFNSK FSLHRQHHEG GNKQMLYQAG 600
    LHFKLPQSTD PLRTFKDTIY LTQVMQAQCV KTETEFYRRS RSEIVDQQGH 650
    TMGALYWQLN DIWQAPSWAS LEYGGKWKML HYFAQNFFAP LLPVGFENEN 700
    TFYIYGVSDL HSDYSMTLSV RVHTWSSLEP VCSRVTERFV MKGGEAVCLY 750
    EEPVSELLRR CGNCTRESCV VSFYLSADHE LLSPTNYHFL SSPKEAVGLC 800
    KAQITAIISQ QGDIFVFDLE TSAVAPFVWL DVGSIPGRFS DNGFLMTEKT 850
    RTILFYPWEP TSKNELEQSF HVTSLTDIY 879
    Length:879
    Mass (Da):100,895
    Last modified:August 16, 2004 - v3
    Checksum:iFE8173A4276B722E
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti70 – 701Y → H in AAC39573. (PubMed:9384606)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti253 – 2531V → I.1 Publication
    Corresponds to variant rs227368 [ dbSNP | Ensembl ].
    VAR_026232
    Natural varianti253 – 2531V → L.
    Corresponds to variant rs227368 [ dbSNP | Ensembl ].
    VAR_059311
    Natural varianti701 – 7011T → M.1 Publication
    Corresponds to variant rs2866413 [ dbSNP | Ensembl ].
    VAR_026233

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U60337 mRNA. Translation: AAC39573.1.
    AF213884 Genomic DNA. Translation: AAF35233.1.
    BC015743 mRNA. Translation: AAH15743.1.
    CCDSiCCDS3658.1.
    RefSeqiNP_005899.3. NM_005908.3.
    UniGeneiHs.480415.

    Genome annotation databases

    EnsembliENST00000226578; ENSP00000226578; ENSG00000109323.
    GeneIDi4126.
    KEGGihsa:4126.
    UCSCiuc003hwg.3. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U60337 mRNA. Translation: AAC39573.1 .
    AF213884 Genomic DNA. Translation: AAF35233.1 .
    BC015743 mRNA. Translation: AAH15743.1 .
    CCDSi CCDS3658.1.
    RefSeqi NP_005899.3. NM_005908.3.
    UniGenei Hs.480415.

    3D structure databases

    ProteinModelPortali O00462.
    SMRi O00462. Positions 25-857.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110299. 1 interaction.
    STRINGi 9606.ENSP00000226578.

    Chemistry

    BindingDBi O00462.
    ChEMBLi CHEMBL3903.

    Protein family/group databases

    CAZyi GH2. Glycoside Hydrolase Family 2.

    PTM databases

    PhosphoSitei O00462.

    Proteomic databases

    MaxQBi O00462.
    PaxDbi O00462.
    PeptideAtlasi O00462.
    PRIDEi O00462.

    Protocols and materials databases

    DNASUi 4126.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000226578 ; ENSP00000226578 ; ENSG00000109323 .
    GeneIDi 4126.
    KEGGi hsa:4126.
    UCSCi uc003hwg.3. human.

    Organism-specific databases

    CTDi 4126.
    GeneCardsi GC04M103552.
    H-InvDB HIX0022086.
    HGNCi HGNC:6831. MANBA.
    HPAi HPA053478.
    MIMi 248510. phenotype.
    609489. gene.
    neXtProti NX_O00462.
    Orphaneti 118. Beta-mannosidosis.
    PharmGKBi PA30577.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG3250.
    HOGENOMi HOG000186862.
    HOVERGENi HBG052404.
    InParanoidi O00462.
    KOi K01192.
    OMAi QPFYIPY.
    OrthoDBi EOG7S7SD2.
    PhylomeDBi O00462.
    TreeFami TF105723.

    Enzyme and pathway databases

    UniPathwayi UPA00280 .

    Miscellaneous databases

    GeneWikii Beta-mannosidase.
    GenomeRNAii 4126.
    NextBioi 16200.
    PROi O00462.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O00462.
    Bgeei O00462.
    CleanExi HS_MANBA.
    Genevestigatori O00462.

    Family and domain databases

    Gene3Di 2.60.120.260. 2 hits.
    2.60.40.320. 1 hit.
    3.20.20.80. 2 hits.
    InterProi IPR008979. Galactose-bd-like.
    IPR013812. Glyco_hydro_2/20_Ig-like.
    IPR006102. Glyco_hydro_2_Ig-like.
    IPR006104. Glyco_hydro_2_N.
    IPR006103. Glyco_hydro_2_TIM.
    IPR013781. Glyco_hydro_catalytic_dom.
    IPR017853. Glycoside_hydrolase_SF.
    IPR028369. Mannanase.
    [Graphical view ]
    PANTHERi PTHR10066:SF12. PTHR10066:SF12. 1 hit.
    Pfami PF02836. Glyco_hydro_2_C. 1 hit.
    PF02837. Glyco_hydro_2_N. 1 hit.
    [Graphical view ]
    SUPFAMi SSF49303. SSF49303. 3 hits.
    SSF49785. SSF49785. 1 hit.
    SSF51445. SSF51445. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis."
      Alkhayat A.H., Kraemer S.A., Leipprandt J.R., Macek M., Kleijer W.J., Friderici K.H.
      Hum. Mol. Genet. 7:75-83(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], INVOLVEMENT IN MANSB, VARIANT ILE-253.
    2. "Genome sequencing of the chromosome 4q region implicated in human hepatocellular carcinoma pathogenesis."
      Chang H.-M., Tsai S.-F.
      Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT MET-701.
      Tissue: Muscle.

    Entry informationi

    Entry nameiMANBA_HUMAN
    AccessioniPrimary (citable) accession number: O00462
    Secondary accession number(s): Q96BC3, Q9NYX9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: August 16, 2004
    Last modified: October 1, 2014
    This is version 129 of the entry and version 3 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Glycosyl hydrolases
      Classification of glycosyl hydrolase families and list of entries
    2. Human chromosome 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    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. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3