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O00754

- MA2B1_HUMAN

UniProt

O00754 - MA2B1_HUMAN

Protein

Lysosomal alpha-mannosidase

Gene

MAN2B1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 150 (01 Oct 2014)
      Sequence version 3 (31 Oct 2006)
      Previous versions | rss
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    Functioni

    Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages.

    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 bindingi72 – 721ZincBy similarity
    Metal bindingi74 – 741ZincBy similarity
    Active sitei196 – 1961NucleophileBy similarity
    Metal bindingi196 – 1961ZincBy similarity
    Metal bindingi446 – 4461ZincBy similarity

    GO - Molecular functioni

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

    GO - Biological processi

    1. cellular protein modification process Source: UniProtKB
    2. mannose metabolic process Source: InterPro
    3. protein deglycosylation Source: ProtInc

    Keywords - Molecular functioni

    Glycosidase, Hydrolase

    Keywords - Ligandi

    Metal-binding, Zinc

    Enzyme and pathway databases

    BRENDAi3.2.1.24. 2681.

    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
    Cleaved into the following 5 chains:
    Gene namesi
    Name:MAN2B1
    Synonyms:LAMAN, MANB
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:6826. MAN2B1.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. lysosome Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Lysosome

    Pathology & Biotechi

    Involvement in diseasei

    Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]: A lysosomal storage disease characterized by accumulation of unbranched oligosaccharide chains. This accumulation is expressed histologically as cytoplasmic vacuolation predominantly in the CNS and parenchymatous organs. Depending on the clinical findings at the age of onset, a severe infantile (type I) and a mild juvenile (type II) form of alpha-mannosidosis are recognized. There is considerable variation in the clinical expression with mental retardation, recurrent infections, impaired hearing and Hurler-like skeletal changes being the most consistent abnormalities.6 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti55 – 551C → F in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068034
    Natural varianti72 – 721H → L in MANSA; type II. 2 Publications
    VAR_003338
    Natural varianti74 – 741D → E in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068035
    Natural varianti95 – 951A → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068036
    Natural varianti99 – 991Y → H in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068037
    Natural varianti159 – 1591D → N in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068038
    Natural varianti197 – 1971P → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068039
    Natural varianti200 – 2001H → L in MANSA; no residual enzyme activity. 2 Publications
    VAR_026412
    Natural varianti200 – 2001H → N in MANSA; reduced enzyme activity. 1 Publication
    VAR_068040
    Natural varianti202 – 2021R → P in MANSA; reduced enzyme activity. 1 Publication
    VAR_068041
    Natural varianti229 – 2291R → W in MANSA; reduced enzyme activity. 1 Publication
    VAR_068042
    Natural varianti263 – 2631P → L in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068044
    Natural varianti318 – 3181S → L in MANSA; reduced enzyme activity. 1 Publication
    VAR_068046
    Natural varianti339 – 3424Missing in MANSA.
    VAR_068047
    Natural varianti352 – 3521L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068048
    Natural varianti355 – 3551T → P in MANSA. 1 Publication
    VAR_003342
    Natural varianti356 – 3561P → R in MANSA; type I. 1 Publication
    VAR_003343
    Natural varianti379 – 3791P → L in MANSA; reduced enzyme activity. 1 Publication
    VAR_068049
    Natural varianti390 – 3901G → C in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068050
    Natural varianti402 – 4021E → K in MANSA; unknown pathological significance. 2 Publications
    VAR_003344
    Natural varianti420 – 4201G → V in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068051
    Natural varianti445 – 4451H → Y in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068052
    Natural varianti451 – 4511G → C in MANSA; reduced enzyme activity. 1 Publication
    VAR_068053
    Natural varianti453 – 4531S → F in MANSA; reduced enzyme activity. 1 Publication
    VAR_068054
    Natural varianti453 – 4531S → Y in MANSA. 2 Publications
    VAR_026413
    Natural varianti457 – 4571V → E in MANSA; reduced enzyme activity. 1 Publication
    VAR_068055
    Natural varianti501 – 5011C → S in MANSA; reduced enzyme activity. 1 Publication
    VAR_068056
    Natural varianti565 – 5651L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068057
    Natural varianti714 – 7141W → R in MANSA. 1 Publication
    VAR_003346
    Natural varianti745 – 7451T → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068059
    Natural varianti750 – 7501R → W in MANSA; type II. 1 Publication
    VAR_003347
    Natural varianti800 – 8001G → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068060
    Natural varianti800 – 8001G → W in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068061
    Natural varianti801 – 8011G → D in MANSA; no residual enzyme activity. 1 Publication
    VAR_026414
    Natural varianti809 – 8091L → P in MANSA. 1 Publication
    VAR_003348
    Natural varianti815 – 8151R → RHR in MANSA; results in less than 20% of wild-type enzyme activity.
    VAR_068062
    Natural varianti891 – 8911G → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068063
    Natural varianti892 – 8921L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068064
    Natural varianti916 – 9161R → C in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068065
    Natural varianti916 – 9161R → H in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068066
    Natural varianti950 – 9501R → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068067
    Natural varianti956 – 9561L → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068068
    Natural varianti1000 – 10001F → S in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068069

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi248500. phenotype.
    Orphaneti309288. Alpha-mannosidosis, adult form.
    309282. Alpha-mannosidosis, infantile form.
    PharmGKBiPA30575.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 4949Add
    BLAST
    Chaini50 – 1011962Lysosomal alpha-mannosidasePRO_0000012069Add
    BLAST
    Chaini50 – 345296Lysosomal alpha-mannosidase A peptidePRO_0000012070Add
    BLAST
    Chaini346 – 42984Lysosomal alpha-mannosidase B peptidePRO_0000012071Add
    BLAST
    Chaini430 – 601172Lysosomal alpha-mannosidase C peptidePRO_0000012072Add
    BLAST
    Chaini602 – 882281Lysosomal alpha-mannosidase D peptidePRO_0000012073Add
    BLAST
    Chaini883 – 1011129Lysosomal alpha-mannosidase E peptidePRO_0000012074Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi55 ↔ 358By similarity
    Glycosylationi133 – 1331N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi268 ↔ 273By similarity
    Glycosylationi310 – 3101N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi367 – 3671N-linked (GlcNAc...)1 Publication
    Disulfide bondi412 ↔ 472By similarity
    Disulfide bondi493 ↔ 501By similarity
    Glycosylationi497 – 4971N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi645 – 6451N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi651 – 6511N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi692 – 6921N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi766 – 7661N-linked (GlcNAc...)1 Publication
    Glycosylationi832 – 8321N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi930 – 9301N-linked (GlcNAc...)1 Publication
    Glycosylationi989 – 9891N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    First processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). The 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked.
    Heavily glycosylated.2 Publications

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Zymogen

    Proteomic databases

    MaxQBiO00754.
    PaxDbiO00754.
    PRIDEiO00754.

    PTM databases

    PhosphoSiteiO00754.

    Expressioni

    Gene expression databases

    ArrayExpressiO00754.
    BgeeiO00754.
    CleanExiHS_MAN2B1.
    GenevestigatoriO00754.

    Organism-specific databases

    HPAiHPA041530.

    Interactioni

    Protein-protein interaction databases

    BioGridi110298. 7 interactions.
    IntActiO00754. 1 interaction.
    MINTiMINT-253662.
    STRINGi9606.ENSP00000395473.

    Structurei

    3D structure databases

    ProteinModelPortaliO00754.
    SMRiO00754. Positions 51-341, 349-420, 431-584, 605-874, 885-1006.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyl hydrolase 38 family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG306356.
    HOGENOMiHOG000007676.
    HOVERGENiHBG052391.
    InParanoidiO00754.
    KOiK12311.
    OMAiNMQLTVL.
    OrthoDBiEOG786H2P.
    PhylomeDBiO00754.
    TreeFamiTF313840.

    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.

    Sequences (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O00754-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MGAYARASGV CARGCLDSAG PWTMSRALRP PLPPLCFFLL LLAAAGARAG     50
    GYETCPTVQP NMLNVHLLPH THDDVGWLKT VDQYFYGIKN DIQHAGVQYI 100
    LDSVISALLA DPTRRFIYVE IAFFSRWWHQ QTNATQEVVR DLVRQGRLEF 150
    ANGGWVMNDE AATHYGAIVD QMTLGLRFLE DTFGNDGRPR VAWHIDPFGH 200
    SREQASLFAQ MGFDGFFFGR LDYQDKWVRM QKLEMEQVWR ASTSLKPPTA 250
    DLFTGVLPNG YNPPRNLCWD VLCVDQPLVE DPRSPEYNAK ELVDYFLNVA 300
    TAQGRYYRTN HTVMTMGSDF QYENANMWFK NLDKLIRLVN AQQAKGSSVH 350
    VLYSTPACYL WELNKANLTW SVKHDDFFPY ADGPHQFWTG YFSSRPALKR 400
    YERLSYNFLQ VCNQLEALVG LAANVGPYGS GDSAPLNEAM AVLQHHDAVS 450
    GTSRQHVAND YARQLAAGWG PCEVLLSNAL ARLRGFKDHF TFCQQLNISI 500
    CPLSQTAARF QVIVYNPLGR KVNWMVRLPV SEGVFVVKDP NGRTVPSDVV 550
    IFPSSDSQAH PPELLFSASL PALGFSTYSV AQVPRWKPQA RAPQPIPRRS 600
    WSPALTIENE HIRATFDPDT GLLMEIMNMN QQLLLPVRQT FFWYNASIGD 650
    NESDQASGAY IFRPNQQKPL PVSRWAQIHL VKTPLVQEVH QNFSAWCSQV 700
    VRLYPGQRHL ELEWSVGPIP VGDTWGKEVI SRFDTPLETK GRFYTDSNGR 750
    EILERRRDYR PTWKLNQTEP VAGNYYPVNT RIYITDGNMQ LTVLTDRSQG 800
    GSSLRDGSLE LMVHRRLLKD DGRGVSEPLM ENGSGAWVRG RHLVLLDTAQ 850
    AAAAGHRLLA EQEVLAPQVV LAPGGGAAYN LGAPPRTQFS GLRRDLPPSV 900
    HLLTLASWGP EMVLLRLEHQ FAVGEDSGRN LSAPVTLNLR DLFSTFTITR 950
    LQETTLVANQ LREAASRLKW TTNTGPTPHQ TPYQLDPANI TLEPMEIRTF 1000
    LASVQWKEVD G 1011
    Length:1,011
    Mass (Da):113,744
    Last modified:October 31, 2006 - v3
    Checksum:iE11C77C19D8BD88C
    GO
    Isoform 2 (identifier: O00754-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         343-343: Missing.

    Note: Gene prediction based on EST data.

    Show »
    Length:1,010
    Mass (Da):113,616
    Checksum:iBCCA165E4D5D46CA
    GO

    Sequence cautioni

    The sequence AAB03816.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAC50812.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti3 – 31Missing in AAC51362. (PubMed:9192839)Curated
    Sequence conflicti186 – 1861D → V in AAC34130. (PubMed:9158146)Curated
    Sequence conflicti384 – 3841P → H in AAC50812. (PubMed:8910458)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti55 – 551C → F in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068034
    Natural varianti72 – 721H → L in MANSA; type II. 2 Publications
    VAR_003338
    Natural varianti74 – 741D → E in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068035
    Natural varianti95 – 951A → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068036
    Natural varianti99 – 991Y → H in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068037
    Natural varianti159 – 1591D → N in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068038
    Natural varianti197 – 1971P → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068039
    Natural varianti200 – 2001H → L in MANSA; no residual enzyme activity. 2 Publications
    VAR_026412
    Natural varianti200 – 2001H → N in MANSA; reduced enzyme activity. 1 Publication
    VAR_068040
    Natural varianti202 – 2021R → P in MANSA; reduced enzyme activity. 1 Publication
    VAR_068041
    Natural varianti229 – 2291R → W in MANSA; reduced enzyme activity. 1 Publication
    VAR_068042
    Natural varianti248 – 2481P → L.1 Publication
    Corresponds to variant rs117843968 [ dbSNP | Ensembl ].
    VAR_068043
    Natural varianti250 – 2501A → S.
    Corresponds to variant rs3745650 [ dbSNP | Ensembl ].
    VAR_049209
    Natural varianti263 – 2631P → L in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068044
    Natural varianti278 – 2781L → V.2 Publications
    Corresponds to variant rs1054486 [ dbSNP | Ensembl ].
    VAR_003339
    Natural varianti282 – 2821P → S.1 Publication
    Corresponds to variant rs45576136 [ dbSNP | Ensembl ].
    VAR_068045
    Natural varianti312 – 3121T → I.2 Publications
    Corresponds to variant rs1054487 [ dbSNP | Ensembl ].
    VAR_003340
    Natural varianti318 – 3181S → L in MANSA; reduced enzyme activity. 1 Publication
    VAR_068046
    Natural varianti337 – 3371R → Q.2 Publications
    Corresponds to variant rs1133330 [ dbSNP | Ensembl ].
    VAR_003341
    Natural varianti339 – 3424Missing in MANSA.
    VAR_068047
    Natural varianti352 – 3521L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068048
    Natural varianti355 – 3551T → P in MANSA. 1 Publication
    VAR_003342
    Natural varianti356 – 3561P → R in MANSA; type I. 1 Publication
    VAR_003343
    Natural varianti379 – 3791P → L in MANSA; reduced enzyme activity. 1 Publication
    VAR_068049
    Natural varianti390 – 3901G → C in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068050
    Natural varianti402 – 4021E → K in MANSA; unknown pathological significance. 2 Publications
    VAR_003344
    Natural varianti413 – 4131N → S.2 Publications
    Corresponds to variant rs35836657 [ dbSNP | Ensembl ].
    VAR_003345
    Natural varianti420 – 4201G → V in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068051
    Natural varianti445 – 4451H → Y in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068052
    Natural varianti451 – 4511G → C in MANSA; reduced enzyme activity. 1 Publication
    VAR_068053
    Natural varianti453 – 4531S → F in MANSA; reduced enzyme activity. 1 Publication
    VAR_068054
    Natural varianti453 – 4531S → Y in MANSA. 2 Publications
    VAR_026413
    Natural varianti457 – 4571V → E in MANSA; reduced enzyme activity. 1 Publication
    VAR_068055
    Natural varianti481 – 4811A → S.1 Publication
    Corresponds to variant rs34544747 [ dbSNP | Ensembl ].
    VAR_049210
    Natural varianti501 – 5011C → S in MANSA; reduced enzyme activity. 1 Publication
    VAR_068056
    Natural varianti565 – 5651L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068057
    Natural varianti669 – 6691P → L.1 Publication
    Corresponds to variant rs75029862 [ dbSNP | Ensembl ].
    VAR_068058
    Natural varianti714 – 7141W → R in MANSA. 1 Publication
    VAR_003346
    Natural varianti745 – 7451T → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068059
    Natural varianti750 – 7501R → W in MANSA; type II. 1 Publication
    VAR_003347
    Natural varianti800 – 8001G → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068060
    Natural varianti800 – 8001G → W in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068061
    Natural varianti801 – 8011G → D in MANSA; no residual enzyme activity. 1 Publication
    VAR_026414
    Natural varianti809 – 8091L → P in MANSA. 1 Publication
    VAR_003348
    Natural varianti815 – 8151R → RHR in MANSA; results in less than 20% of wild-type enzyme activity.
    VAR_068062
    Natural varianti891 – 8911G → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068063
    Natural varianti892 – 8921L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068064
    Natural varianti916 – 9161R → C in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068065
    Natural varianti916 – 9161R → H in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068066
    Natural varianti950 – 9501R → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068067
    Natural varianti956 – 9561L → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068068
    Natural varianti1000 – 10001F → S in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication
    VAR_068069

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei343 – 3431Missing in isoform 2. CuratedVSP_047391

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U05572 mRNA. Translation: AAB03816.1. Different initiation.
    U60266 mRNA. Translation: AAC34130.1.
    U60899
    , U60885, U60886, U60887, U60888, U60889, U60890, U60891, U60892, U60893, U60894, U60895, U60896, U60897, U60898 Genomic DNA. Translation: AAC51362.1.
    AC010422 Genomic DNA. No translation available.
    CH471106 Genomic DNA. Translation: EAW84279.1.
    BC000736 mRNA. Translation: AAH00736.1.
    U68567 mRNA. Translation: AAC50812.1. Different initiation.
    CCDSiCCDS32919.1. [O00754-1]
    CCDS54224.1. [O00754-2]
    RefSeqiNP_000519.2. NM_000528.3. [O00754-1]
    NP_001166969.1. NM_001173498.1. [O00754-2]
    UniGeneiHs.356769.
    Hs.657204.

    Genome annotation databases

    EnsembliENST00000221363; ENSP00000221363; ENSG00000104774. [O00754-2]
    ENST00000456935; ENSP00000395473; ENSG00000104774. [O00754-1]
    GeneIDi4125.
    KEGGihsa:4125.
    UCSCiuc002mub.2. human. [O00754-1]
    uc010dyv.1. human.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Mendelian genes mannosidase, alpha, class 2B, member 1 (MAN2B1)

    Leiden Open Variation Database (LOVD)

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U05572 mRNA. Translation: AAB03816.1 . Different initiation.
    U60266 mRNA. Translation: AAC34130.1 .
    U60899
    , U60885 , U60886 , U60887 , U60888 , U60889 , U60890 , U60891 , U60892 , U60893 , U60894 , U60895 , U60896 , U60897 , U60898 Genomic DNA. Translation: AAC51362.1 .
    AC010422 Genomic DNA. No translation available.
    CH471106 Genomic DNA. Translation: EAW84279.1 .
    BC000736 mRNA. Translation: AAH00736.1 .
    U68567 mRNA. Translation: AAC50812.1 . Different initiation.
    CCDSi CCDS32919.1. [O00754-1 ]
    CCDS54224.1. [O00754-2 ]
    RefSeqi NP_000519.2. NM_000528.3. [O00754-1 ]
    NP_001166969.1. NM_001173498.1. [O00754-2 ]
    UniGenei Hs.356769.
    Hs.657204.

    3D structure databases

    ProteinModelPortali O00754.
    SMRi O00754. Positions 51-341, 349-420, 431-584, 605-874, 885-1006.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110298. 7 interactions.
    IntActi O00754. 1 interaction.
    MINTi MINT-253662.
    STRINGi 9606.ENSP00000395473.

    Chemistry

    BindingDBi O00754.
    ChEMBLi CHEMBL4059.

    Protein family/group databases

    CAZyi GH38. Glycoside Hydrolase Family 38.

    PTM databases

    PhosphoSitei O00754.

    Proteomic databases

    MaxQBi O00754.
    PaxDbi O00754.
    PRIDEi O00754.

    Protocols and materials databases

    DNASUi 4125.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000221363 ; ENSP00000221363 ; ENSG00000104774 . [O00754-2 ]
    ENST00000456935 ; ENSP00000395473 ; ENSG00000104774 . [O00754-1 ]
    GeneIDi 4125.
    KEGGi hsa:4125.
    UCSCi uc002mub.2. human. [O00754-1 ]
    uc010dyv.1. human.

    Organism-specific databases

    CTDi 4125.
    GeneCardsi GC19M012757.
    GeneReviewsi MAN2B1.
    HGNCi HGNC:6826. MAN2B1.
    HPAi HPA041530.
    MIMi 248500. phenotype.
    609458. gene.
    neXtProti NX_O00754.
    Orphaneti 309288. Alpha-mannosidosis, adult form.
    309282. Alpha-mannosidosis, infantile form.
    PharmGKBi PA30575.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG306356.
    HOGENOMi HOG000007676.
    HOVERGENi HBG052391.
    InParanoidi O00754.
    KOi K12311.
    OMAi NMQLTVL.
    OrthoDBi EOG786H2P.
    PhylomeDBi O00754.
    TreeFami TF313840.

    Enzyme and pathway databases

    BRENDAi 3.2.1.24. 2681.

    Miscellaneous databases

    ChiTaRSi MAN2B1. human.
    GenomeRNAii 4125.
    NextBioi 16196.
    PROi O00754.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O00754.
    Bgeei O00754.
    CleanExi HS_MAN2B1.
    Genevestigatori O00754.

    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. "Human lysosomal alpha-mannosidase: isolation and nucleotide sequence of the full-length cDNA."
      Nebes V.L., Schmidt M.C.
      Biochem. Biophys. Res. Commun. 200:239-245(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Alpha-mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings."
      Nilssen O., Berg T., Riise H.M.F., Ramachandran U., Evjen G., Hansen G.M., Malm D., Tranebjaerg L., Tollersrud O.-K.
      Hum. Mol. Genet. 6:717-726(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PARTIAL PROTEIN SEQUENCE, VARIANT MANSA LEU-72.
      Tissue: Lung and Skin.
    3. "Genomic structure of the human lysosomal alpha-mannosidase gene (MANB)."
      Riise H.M.F., Berg T., Nilssen O., Romeo G., Tollersrud O.-K., Ceccherini I.
      Genomics 42:200-207(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
    4. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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] (ISOFORM 1).
      Tissue: Placenta.
    7. "Cloning, expression, purification, and characterization of the human broad specificity lysosomal acid alpha-mannosidase."
      Liao Y.-F., Lal A., Moremen K.W.
      J. Biol. Chem. 271:28348-28358(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 9-1010 (ISOFORM 1).
      Tissue: Spleen.
    8. "Partial sequence of the purified protein confirms the identity of cDNA coding for human lysosomal alpha-mannosidase B."
      Emiliani C., Martino S., Stirling J.L., Maras B., Orlacchio A.
      Biochem. J. 305:363-366(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: PARTIAL PROTEIN SEQUENCE.
    9. "Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry."
      Zhang H., Li X.-J., Martin D.B., Aebersold R.
      Nat. Biotechnol. 21:660-666(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION AT ASN-930.
    10. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
      J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-367 AND ASN-766.
      Tissue: Liver.
    11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. "Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis."
      Gotoda Y., Wakamatsu N., Kawai H., Nishida Y., Matsumoto T.
      Am. J. Hum. Genet. 63:1015-1024(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MANSA LEU-72; ARG-356 AND TRP-750.
    13. Cited for: VARIANTS MANSA PRO-355; LYS-402; ARG-714 AND PRO-809, VARIANTS VAL-278; ILE-312; GLN-337 AND SER-413.
    14. "Alpha-mannosidosis and mutational analysis in a Turkish patient."
      Oelmez A., Nilssen O., Coskun T., Klenow H.
      Turk. J. Pediatr. 45:46-50(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MANSA TYR-453.
    15. "Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis."
      Sbaragli M., Bibi L., Pittis M.G., Balducci C., Heikinheimo P., Ricci R., Antuzzi D., Parini R., Spaccini L., Bembi B., Beccari T.
      Hum. Mutat. 25:320-320(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MANSA LEU-200 AND ASP-801, CHARACTERIZATION OF VARIANTS MANSA LEU-200 AND ASP-801.
    16. "Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations."
      Riise Stensland H.M., Klenow H.B., Van Nguyen L., Hansen G.M., Malm D., Nilssen O.
      Hum. Mutat. 33:511-520(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MANSA PHE-55; GLU-74; PRO-95; HIS-99; ASN-159; ARG-197; ASN-200; LEU-200; PRO-202; TRP-229; LEU-263; LEU-318; 339-VAL--GLN-342 DEL; PRO-352; LEU-379; CYS-390; LYS-402; VAL-420; TYR-445; CYS-451; TYR-453; PHE-453; GLU-457; SER-501; PRO-565; ARG-745; ARG-800; TRP-800; HIS-ARG-815 INS; ARG-891; PRO-892; CYS-916; HIS-916; PRO-950; ARG-956 AND SER-1000, VARIANTS LEU-248; VAL-278; SER-282; ILE-312; GLN-337; SER-413; SER-481 AND LEU-669, CHARACTERIZATION OF VARIANTS MANSA PHE-55; GLU-74; PRO-95; HIS-99; ASN-159; ARG-197; ASN-200; LEU-200; PRO-202; TRP-229; LEU-263; LEU-318; PRO-352; LEU-379; CYS-390; LYS-402; VAL-420; TYR-445; CYS-451; TYR-453; PHE-453; GLU-457; SER-501; PRO-565; ARG-745; ARG-800; TRP-800; HIS-ARG-815 INS; ARG-891; PRO-892; CYS-916; HIS-916; PRO-950; ARG-956 AND SER-1000.

    Entry informationi

    Entry nameiMA2B1_HUMAN
    AccessioniPrimary (citable) accession number: O00754
    Secondary accession number(s): G5E928
    , O15330, Q16680, Q93094, Q9BW13
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: October 31, 2006
    Last modified: October 1, 2014
    This is version 150 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, Direct protein sequencing, Reference proteome

    Documents

    1. Glycosyl hydrolases
      Classification of glycosyl hydrolase families and list of entries
    2. Human chromosome 19
      Human chromosome 19: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3