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Q8VHC8

- MA2B1_CAVPO

UniProt

Q8VHC8 - MA2B1_CAVPO

Protein

Lysosomal alpha-mannosidase

Gene

MAN2B1

Organism
Cavia porcellus (Guinea pig)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 68 (01 Oct 2014)
      Sequence version 1 (01 Mar 2002)
      Previous versions | rss
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    Functioni

    Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover.By similarity

    Catalytic activityi

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

    Cofactori

    Binds 1 zinc ion per subunit.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi70 – 701ZincBy similarity
    Metal bindingi72 – 721ZincBy similarity
    Active sitei194 – 1941NucleophileBy similarity
    Metal bindingi194 – 1941ZincBy similarity
    Metal bindingi444 – 4441ZincBy similarity

    GO - Molecular functioni

    1. alpha-mannosidase activity Source: UniProtKB-EC
    2. carbohydrate binding Source: InterPro
    3. zinc ion binding Source: InterPro

    GO - Biological processi

    1. mannose metabolic process Source: InterPro

    Keywords - Molecular functioni

    Glycosidase, Hydrolase

    Keywords - Ligandi

    Metal-binding, Zinc

    Protein family/group databases

    CAZyiGH38. Glycoside Hydrolase Family 38.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Lysosomal alpha-mannosidase (EC:3.2.1.24)
    Short name:
    Laman
    Alternative name(s):
    Lysosomal acid alpha-mannosidase
    Mannosidase alpha class 2B member 1
    Mannosidase alpha-B
    Gene namesi
    Name:MAN2B1
    Synonyms:MANB
    OrganismiCavia porcellus (Guinea pig)
    Taxonomic identifieri10141 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaHystricognathiCaviidaeCavia
    ProteomesiUP000005447: Unplaced

    Subcellular locationi

    GO - Cellular componenti

    1. lysosome Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Lysosome

    Pathology & Biotechi

    Involvement in diseasei

    Defects in MAN2B1 are the cause of lysosomal alpha-mannosidosis (AM). AM is a lysosomal storage disease characterized by accumulation of unbranched oligosaccharide chains.

    Keywords - Diseasei

    Disease mutation

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 4747Sequence AnalysisAdd
    BLAST
    Chaini48 – 1007960Lysosomal alpha-mannosidasePRO_0000012067Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi53 ↔ 356By similarity
    Glycosylationi131 – 1311N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi266 ↔ 271By similarity
    Glycosylationi308 – 3081N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi343 – 3431N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi365 – 3651N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi410 ↔ 470By similarity
    Disulfide bondi491 ↔ 499By similarity
    Glycosylationi495 – 4951N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi540 – 5401N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi639 – 6391N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi686 – 6861N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi760 – 7601N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi927 – 9271N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Structurei

    3D structure databases

    ProteinModelPortaliQ8VHC8.
    SMRiQ8VHC8. Positions 49-338, 346-419, 429-577, 599-868, 882-1003.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyl hydrolase 38 family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiCOG0383.
    GeneTreeiENSGT00510000046304.
    HOGENOMiHOG000007676.
    HOVERGENiHBG052391.
    OrthoDBiEOG786H2P.

    Family and domain databases

    Gene3Di1.20.1270.50. 1 hit.
    2.60.40.1180. 1 hit.
    3.20.110.10. 1 hit.
    InterProiIPR011013. Gal_mutarotase_SF_dom.
    IPR011330. Glyco_hydro/deAcase_b/a-brl.
    IPR013780. Glyco_hydro_13_b.
    IPR027291. Glyco_hydro_38/57_N.
    IPR011682. Glyco_hydro_38_C.
    IPR015341. Glyco_hydro_38_cen.
    IPR000602. Glyco_hydro_38_N.
    IPR028995. Glyco_hydro_57/38_cen.
    [Graphical view]
    PfamiPF09261. Alpha-mann_mid. 1 hit.
    PF01074. Glyco_hydro_38. 1 hit.
    PF07748. Glyco_hydro_38C. 1 hit.
    [Graphical view]
    SMARTiSM00872. Alpha-mann_mid. 1 hit.
    [Graphical view]
    SUPFAMiSSF74650. SSF74650. 1 hit.
    SSF88688. SSF88688. 1 hit.
    SSF88713. SSF88713. 1 hit.

    Sequencei

    Sequence statusi: Complete.

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

    Q8VHC8-1 [UniParc]FASTAAdd to Basket

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    MGASVLPLGL GAGDCQSSSG RRMSACLPRT ALSFLLSLLL ATPGARAAGY     50
    ETCPMVQPGM LNVHLVAHTH DDVGWLKTVD QYYWGIHNDL QQAGVQYILD 100
    SVISALLAEP TRRFVYVEMA FFSRWWHQQT NETQEVVRRL VRQGRLEFAN 150
    GGWVMNDEAA THYGAIVDQM TLGLRFLEDT FGSDGRPRVA WHIDPFGHSR 200
    EQASLFAQMG FDGVFFGRID YQDKLVRKKR REMELVWRAS ASLKAPAADL 250
    FTGVLPNNYG PPEGLCWDVL CADPPVVDDP RSPEYNAKKL VSYFLQLATA 300
    QGRYYRTNHT VMTMGSDFQY ENANTWFKNL DKLIQLVNMQ QANGSRVHVL 350
    YSTPACYLWE LNKANLTWPV KEDDFFPYAD GPHMFWTGYF SSRPALKRYE 400
    RLSYNFLQVC NQLEAQVGPA ANVGPYGHGD SSPLNQAMAV LQHHDAVSGT 450
    SKQHVADDYA RQLAAGWGPC EVLLSNALAK LSGSKETFLF CRDLNISICP 500
    FSQTSERFQV LVYNPLGRKV DRMVRLPVRK GLFLIKDPGN NTVPSTVVEL 550
    TSSGNPELLF PALVPALGFS VYSVTRVSDQ NPQTRSQHSR PQKYSSPVLS 600
    IKNEYLRASF HPDTGLLSMI EVLDRKLTLP VNQAFFWYNA SVGDKRSSQA 650
    SGAYIFRPSQ QWPFPVSHLA RTRLVKTALV QEVHQNFTAW CSQVVRLYSG 700
    QRHLELEWTV GPIPVGDKWG KEIISRFDTP LETGGVFFTD SNGREVLERR 750
    RDYRPSWKLN QTEPVAGNYY PVNSRIYITD GKMQLTVLTD RSQGGSSMSD 800
    GSLELMVHRR LLKDDGRGVG EALQEPGSGG WVRGRHLLLL DTAREAAAEH 850
    RLLAEKELLA PQLVLAPGQG PSYHHDHHEA VPRKQFSGLR RQLPPSVRLL 900
    TLARWGPDTL LLRLEHQFAL GEDSSRNLSL PVTLDLQDLF STFTITRLQE 950
    TTLAANQLRA SASRLKWTTE IDPISRPAVP RLDPSSITLQ PMEIRTFVAS 1000
    VQWEENS 1007
    Length:1,007
    Mass (Da):113,184
    Last modified:March 1, 2002 - v1
    Checksum:iC128EB9948A44D41
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti55 – 551M → I.1 Publication
    Natural varianti227 – 2271R → W in AM. 1 Publication

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY036153 mRNA. Translation: AAL58982.1.
    AY036154 mRNA. Translation: AAL58983.1.
    AY036155 mRNA. Translation: AAL58984.1.
    RefSeqiNP_001244175.1. NM_001257246.1.

    Genome annotation databases

    EnsembliENSCPOT00000024185; ENSCPOP00000017509; ENSCPOG00000002295.
    GeneIDi100718205.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY036153 mRNA. Translation: AAL58982.1 .
    AY036154 mRNA. Translation: AAL58983.1 .
    AY036155 mRNA. Translation: AAL58984.1 .
    RefSeqi NP_001244175.1. NM_001257246.1.

    3D structure databases

    ProteinModelPortali Q8VHC8.
    SMRi Q8VHC8. Positions 49-338, 346-419, 429-577, 599-868, 882-1003.
    ModBasei Search...
    MobiDBi Search...

    Protein family/group databases

    CAZyi GH38. Glycoside Hydrolase Family 38.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSCPOT00000024185 ; ENSCPOP00000017509 ; ENSCPOG00000002295 .
    GeneIDi 100718205.

    Organism-specific databases

    CTDi 4125.

    Phylogenomic databases

    eggNOGi COG0383.
    GeneTreei ENSGT00510000046304.
    HOGENOMi HOG000007676.
    HOVERGENi HBG052391.
    OrthoDBi EOG786H2P.

    Family and domain databases

    Gene3Di 1.20.1270.50. 1 hit.
    2.60.40.1180. 1 hit.
    3.20.110.10. 1 hit.
    InterProi IPR011013. Gal_mutarotase_SF_dom.
    IPR011330. Glyco_hydro/deAcase_b/a-brl.
    IPR013780. Glyco_hydro_13_b.
    IPR027291. Glyco_hydro_38/57_N.
    IPR011682. Glyco_hydro_38_C.
    IPR015341. Glyco_hydro_38_cen.
    IPR000602. Glyco_hydro_38_N.
    IPR028995. Glyco_hydro_57/38_cen.
    [Graphical view ]
    Pfami PF09261. Alpha-mann_mid. 1 hit.
    PF01074. Glyco_hydro_38. 1 hit.
    PF07748. Glyco_hydro_38C. 1 hit.
    [Graphical view ]
    SMARTi SM00872. Alpha-mann_mid. 1 hit.
    [Graphical view ]
    SUPFAMi SSF74650. SSF74650. 1 hit.
    SSF88688. SSF88688. 1 hit.
    SSF88713. SSF88713. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Alpha-mannosidosis in the guinea pig: cloning of the lysosomal alpha-mannosidase cDNA and identification of a missense mutation causing alpha-mannosidosis."
      Berg T., Hopwood J.J.
      Biochim. Biophys. Acta 1586:169-176(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT AM TRP-227, VARIANT ILE-55.

    Entry informationi

    Entry nameiMA2B1_CAVPO
    AccessioniPrimary (citable) accession number: Q8VHC8
    Secondary accession number(s): Q8VHC6, Q8VHC7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 16, 2004
    Last sequence update: March 1, 2002
    Last modified: October 1, 2014
    This is version 68 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Glycosyl hydrolases
      Classification of glycosyl hydrolase families and list of entries
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3