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Lysosomal alpha-mannosidase (Laman) (EC 3.2.1.24) (Lysosomal acid alpha-mannosidase) (Mannosidase alpha class 2B member 1) (Mannosidase alpha-B) [Cleaved into: Lysosomal alpha-mannosidase A peptide; Lysosomal alpha-mannosidase B peptide; Lysosomal alpha-mannosidase C peptide; Lysosomal alpha-mannosidase D peptide; Lysosomal alpha-mannosidase E peptide]

 MA2B1_HUMAN             Reviewed;        1011 AA.
O00754; G5E928; O15330; Q16680; Q93094; Q9BW13;
15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
31-OCT-2006, sequence version 3.
23-MAY-2018, entry version 189.
RecName: Full=Lysosomal alpha-mannosidase;
Short=Laman;
EC=3.2.1.24;
AltName: Full=Lysosomal acid alpha-mannosidase;
AltName: Full=Mannosidase alpha class 2B member 1;
AltName: Full=Mannosidase alpha-B;
Contains:
RecName: Full=Lysosomal alpha-mannosidase A peptide;
Contains:
RecName: Full=Lysosomal alpha-mannosidase B peptide;
Contains:
RecName: Full=Lysosomal alpha-mannosidase C peptide;
Contains:
RecName: Full=Lysosomal alpha-mannosidase D peptide;
Contains:
RecName: Full=Lysosomal alpha-mannosidase E peptide;
Flags: Precursor;
Name=MAN2B1; Synonyms=LAMAN, MANB;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
PubMed=8166692; DOI=10.1006/bbrc.1994.1440;
Nebes V.L., Schmidt M.C.;
"Human lysosomal alpha-mannosidase: isolation and nucleotide sequence
of the full-length cDNA.";
Biochem. Biophys. Res. Commun. 200:239-245(1994).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PARTIAL PROTEIN SEQUENCE, AND
VARIANT MANSA LEU-72.
TISSUE=Lung, and Skin;
PubMed=9158146; DOI=10.1093/hmg/6.5.717;
Nilssen O., Berg T., Riise H.M.F., Ramachandran U., Evjen G.,
Hansen G.M., Malm D., Tranebjaerg L., Tollersrud O.-K.;
"Alpha-mannosidosis: functional cloning of the lysosomal alpha-
mannosidase cDNA and identification of a mutation in two affected
siblings.";
Hum. Mol. Genet. 6:717-726(1997).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
PubMed=9192839; DOI=10.1006/geno.1997.4668;
Riise H.M.F., Berg T., Nilssen O., Romeo G., Tollersrud O.-K.,
Ceccherini I.;
"Genomic structure of the human lysosomal alpha-mannosidase gene
(MANB).";
Genomics 42:200-207(1997).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15057824; DOI=10.1038/nature02399;
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.;
"The DNA sequence and biology of human chromosome 19.";
Nature 428:529-535(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Placenta;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
NUCLEOTIDE SEQUENCE [MRNA] OF 9-1010 (ISOFORM 1).
TISSUE=Spleen;
PubMed=8910458; DOI=10.1074/jbc.271.45.28348;
Liao Y.-F., Lal A., Moremen K.W.;
"Cloning, expression, purification, and characterization of the human
broad specificity lysosomal acid alpha-mannosidase.";
J. Biol. Chem. 271:28348-28358(1996).
[8]
PARTIAL PROTEIN SEQUENCE.
PubMed=7832746; DOI=10.1042/bj3050363;
Emiliani C., Martino S., Stirling J.L., Maras B., Orlacchio A.;
"Partial sequence of the purified protein confirms the identity of
cDNA coding for human lysosomal alpha-mannosidase B.";
Biochem. J. 305:363-366(1995).
[9]
GLYCOSYLATION AT ASN-930.
PubMed=12754519; DOI=10.1038/nbt827;
Zhang H., Li X.-J., Martin D.B., Aebersold R.;
"Identification and quantification of N-linked glycoproteins using
hydrazide chemistry, stable isotope labeling and mass spectrometry.";
Nat. Biotechnol. 21:660-666(2003).
[10]
GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-367 AND ASN-766.
TISSUE=Liver;
PubMed=19159218; DOI=10.1021/pr8008012;
Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.;
"Glycoproteomics analysis of human liver tissue by combination of
multiple enzyme digestion and hydrazide chemistry.";
J. Proteome Res. 8:651-661(2009).
[11]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=21269460; DOI=10.1186/1752-0509-5-17;
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
"Initial characterization of the human central proteome.";
BMC Syst. Biol. 5:17-17(2011).
[12]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Liver;
PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
Wang L., Ye M., Zou H.;
"An enzyme assisted RP-RPLC approach for in-depth analysis of human
liver phosphoproteome.";
J. Proteomics 96:253-262(2014).
[13]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=25944712; DOI=10.1002/pmic.201400617;
Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M.,
Ayoub D., Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
"N-terminome analysis of the human mitochondrial proteome.";
Proteomics 15:2519-2524(2015).
[14]
VARIANTS MANSA LEU-72; ARG-356 AND TRP-750.
PubMed=9758606; DOI=10.1086/302048;
Gotoda Y., Wakamatsu N., Kawai H., Nishida Y., Matsumoto T.;
"Missense and nonsense mutations in the lysosomal alpha-mannosidase
gene (MANB) in severe and mild forms of alpha-mannosidosis.";
Am. J. Hum. Genet. 63:1015-1024(1998).
[15]
VARIANTS MANSA PRO-355; LYS-402; ARG-714 AND PRO-809, AND VARIANTS
VAL-278; ILE-312; GLN-337 AND SER-413.
PubMed=9915946; DOI=10.1086/302183;
Berg T., Riise H.M.F., Hansen G.M., Malm D., Tranebjaerg L.,
Tollersrud O.-K., Nilssen O.;
"Spectrum of mutations in alpha-mannosidosis.";
Am. J. Hum. Genet. 64:77-88(1999).
[16]
VARIANT MANSA TYR-453.
PubMed=12718372;
Oelmez A., Nilssen O., Coskun T., Klenow H.;
"Alpha-mannosidosis and mutational analysis in a Turkish patient.";
Turk. J. Pediatr. 45:46-50(2003).
[17]
VARIANTS MANSA LEU-200 AND ASP-801, AND CHARACTERIZATION OF VARIANTS
MANSA LEU-200 AND ASP-801.
PubMed=15712269; DOI=10.1002/humu.9310;
Sbaragli M., Bibi L., Pittis M.G., Balducci C., Heikinheimo P.,
Ricci R., Antuzzi D., Parini R., Spaccini L., Bembi B., Beccari T.;
"Identification and characterization of five novel MAN2B1 mutations in
Italian patients with alpha-mannosidosis.";
Hum. Mutat. 25:320-320(2005).
[18]
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, AND 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.
PubMed=22161967; DOI=10.1002/humu.22005;
Riise Stensland H.M., Klenow H.B., Van Nguyen L., Hansen G.M.,
Malm D., Nilssen O.;
"Identification of 83 novel alpha-mannosidosis-associated sequence
variants: functional analysis of MAN2B1 missense mutations.";
Hum. Mutat. 33:511-520(2012).
-!- FUNCTION: Necessary for the catabolism of N-linked carbohydrates
released during glycoprotein turnover. Cleaves all known types of
alpha-mannosidic linkages.
-!- CATALYTIC ACTIVITY: Hydrolysis of terminal, non-reducing alpha-D-
mannose residues in alpha-D-mannosides.
-!- COFACTOR:
Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence={ECO:0000250};
Note=Binds 1 zinc ion per subunit. {ECO:0000250};
-!- SUBCELLULAR LOCATION: Lysosome.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=O00754-1; Sequence=Displayed;
Name=2;
IsoId=O00754-2; Sequence=VSP_047391;
Note=Gene prediction based on EST data.;
-!- PTM: 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.
-!- PTM: Heavily glycosylated. {ECO:0000269|PubMed:12754519,
ECO:0000269|PubMed:19159218}.
-!- DISEASE: 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.
{ECO:0000269|PubMed:12718372, ECO:0000269|PubMed:15712269,
ECO:0000269|PubMed:22161967, ECO:0000269|PubMed:9158146,
ECO:0000269|PubMed:9758606, ECO:0000269|PubMed:9915946}. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- SIMILARITY: Belongs to the glycosyl hydrolase 38 family.
{ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAB03816.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Sequence=AAC50812.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
-!- WEB RESOURCE: Name=Mendelian genes mannosidase, alpha, class 2B,
member 1 (MAN2B1); Note=Leiden Open Variation Database (LOVD);
URL="http://www.lovd.nl/MAN2B1";
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EMBL; U05572; AAB03816.1; ALT_INIT; mRNA.
EMBL; U60266; AAC34130.1; -; mRNA.
EMBL; U60899; AAC51362.1; -; Genomic_DNA.
EMBL; U60885; AAC51362.1; JOINED; Genomic_DNA.
EMBL; U60886; AAC51362.1; JOINED; Genomic_DNA.
EMBL; U60887; AAC51362.1; JOINED; Genomic_DNA.
EMBL; U60888; AAC51362.1; JOINED; Genomic_DNA.
EMBL; U60889; AAC51362.1; JOINED; Genomic_DNA.
EMBL; U60890; AAC51362.1; JOINED; Genomic_DNA.
EMBL; U60891; AAC51362.1; JOINED; Genomic_DNA.
EMBL; U60892; AAC51362.1; JOINED; Genomic_DNA.
EMBL; U60893; AAC51362.1; JOINED; Genomic_DNA.
EMBL; U60894; AAC51362.1; JOINED; Genomic_DNA.
EMBL; U60895; AAC51362.1; JOINED; Genomic_DNA.
EMBL; U60896; AAC51362.1; JOINED; Genomic_DNA.
EMBL; U60897; AAC51362.1; JOINED; Genomic_DNA.
EMBL; U60898; AAC51362.1; JOINED; Genomic_DNA.
EMBL; AC010422; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471106; EAW84279.1; -; Genomic_DNA.
EMBL; BC000736; AAH00736.1; -; mRNA.
EMBL; U68567; AAC50812.1; ALT_INIT; mRNA.
CCDS; CCDS32919.1; -. [O00754-1]
CCDS; CCDS54224.1; -. [O00754-2]
RefSeq; NP_000519.2; NM_000528.3. [O00754-1]
RefSeq; NP_001166969.1; NM_001173498.1. [O00754-2]
UniGene; Hs.356769; -.
UniGene; Hs.657204; -.
ProteinModelPortal; O00754; -.
BioGrid; 110298; 17.
IntAct; O00754; 2.
MINT; O00754; -.
STRING; 9606.ENSP00000395473; -.
BindingDB; O00754; -.
ChEMBL; CHEMBL4059; -.
CAZy; GH38; Glycoside Hydrolase Family 38.
GlyConnect; 775; -.
iPTMnet; O00754; -.
PhosphoSitePlus; O00754; -.
UniCarbKB; O00754; -.
BioMuta; MAN2B1; -.
EPD; O00754; -.
MaxQB; O00754; -.
PaxDb; O00754; -.
PeptideAtlas; O00754; -.
PRIDE; O00754; -.
DNASU; 4125; -.
Ensembl; ENST00000221363; ENSP00000221363; ENSG00000104774. [O00754-2]
Ensembl; ENST00000456935; ENSP00000395473; ENSG00000104774. [O00754-1]
GeneID; 4125; -.
KEGG; hsa:4125; -.
UCSC; uc002mub.3; human. [O00754-1]
CTD; 4125; -.
DisGeNET; 4125; -.
EuPathDB; HostDB:ENSG00000104774.12; -.
GeneCards; MAN2B1; -.
GeneReviews; MAN2B1; -.
HGNC; HGNC:6826; MAN2B1.
HPA; HPA041530; -.
HPA; HPA053404; -.
MalaCards; MAN2B1; -.
MIM; 248500; phenotype.
MIM; 609458; gene.
neXtProt; NX_O00754; -.
OpenTargets; ENSG00000104774; -.
Orphanet; 309288; Alpha-mannosidosis, adult form.
Orphanet; 309282; Alpha-mannosidosis, infantile form.
PharmGKB; PA30575; -.
eggNOG; KOG1959; Eukaryota.
eggNOG; ENOG410XQMZ; LUCA.
GeneTree; ENSGT00510000046304; -.
HOGENOM; HOG000007676; -.
HOVERGEN; HBG052391; -.
InParanoid; O00754; -.
KO; K12311; -.
OMA; MWYKNLD; -.
OrthoDB; EOG091G02IS; -.
PhylomeDB; O00754; -.
TreeFam; TF313840; -.
BRENDA; 3.2.1.24; 2681.
Reactome; R-HSA-6798695; Neutrophil degranulation.
Reactome; R-HSA-8853383; Lysosomal oligosaccharide catabolism.
ChiTaRS; MAN2B1; human.
GenomeRNAi; 4125; -.
PRO; PR:O00754; -.
Proteomes; UP000005640; Chromosome 19.
Bgee; ENSG00000104774; -.
CleanEx; HS_MAN2B1; -.
ExpressionAtlas; O00754; baseline and differential.
Genevisible; O00754; HS.
GO; GO:0035578; C:azurophil granule lumen; TAS:Reactome.
GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
GO; GO:0005576; C:extracellular region; TAS:Reactome.
GO; GO:0005615; C:extracellular space; IDA:UniProtKB.
GO; GO:0043202; C:lysosomal lumen; TAS:Reactome.
GO; GO:0004559; F:alpha-mannosidase activity; IBA:GO_Central.
GO; GO:0030246; F:carbohydrate binding; IEA:InterPro.
GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
GO; GO:0006464; P:cellular protein modification process; IDA:UniProtKB.
GO; GO:0006013; P:mannose metabolic process; IBA:GO_Central.
GO; GO:0043312; P:neutrophil degranulation; TAS:Reactome.
GO; GO:0009313; P:oligosaccharide catabolic process; TAS:Reactome.
GO; GO:0006517; P:protein deglycosylation; TAS:ProtInc.
Gene3D; 1.20.1270.50; -; 2.
Gene3D; 2.60.40.1180; -; 1.
Gene3D; 3.20.110.10; -; 1.
InterPro; IPR011013; Gal_mutarotase_sf_dom.
InterPro; IPR011330; Glyco_hydro/deAcase_b/a-brl.
InterPro; IPR011682; Glyco_hydro_38_C.
InterPro; IPR015341; Glyco_hydro_38_cen.
InterPro; IPR037094; Glyco_hydro_38_cen_sf.
InterPro; IPR000602; Glyco_hydro_38_N.
InterPro; IPR027291; Glyco_hydro_38_N_sf.
InterPro; IPR028995; Glyco_hydro_57/38_cen_sf.
InterPro; IPR013780; Glyco_hydro_b.
Pfam; PF09261; Alpha-mann_mid; 1.
Pfam; PF01074; Glyco_hydro_38; 1.
Pfam; PF07748; Glyco_hydro_38C; 1.
SMART; SM00872; Alpha-mann_mid; 1.
SUPFAM; SSF74650; SSF74650; 1.
SUPFAM; SSF88688; SSF88688; 1.
SUPFAM; SSF88713; SSF88713; 1.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Direct protein sequencing;
Disease mutation; Disulfide bond; Glycoprotein; Glycosidase;
Hydrolase; Lysosome; Metal-binding; Polymorphism; Reference proteome;
Signal; Zinc; Zymogen.
SIGNAL 1 49
CHAIN 50 1011 Lysosomal alpha-mannosidase.
/FTId=PRO_0000012069.
CHAIN 50 345 Lysosomal alpha-mannosidase A peptide.
/FTId=PRO_0000012070.
CHAIN 346 429 Lysosomal alpha-mannosidase B peptide.
/FTId=PRO_0000012071.
CHAIN 430 601 Lysosomal alpha-mannosidase C peptide.
/FTId=PRO_0000012072.
CHAIN 602 882 Lysosomal alpha-mannosidase D peptide.
/FTId=PRO_0000012073.
CHAIN 883 1011 Lysosomal alpha-mannosidase E peptide.
/FTId=PRO_0000012074.
ACT_SITE 196 196 Nucleophile. {ECO:0000250}.
METAL 72 72 Zinc. {ECO:0000250}.
METAL 74 74 Zinc. {ECO:0000250}.
METAL 196 196 Zinc. {ECO:0000250}.
METAL 446 446 Zinc. {ECO:0000250}.
CARBOHYD 133 133 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 310 310 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 367 367 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:19159218}.
CARBOHYD 497 497 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 645 645 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 651 651 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 692 692 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 766 766 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:19159218}.
CARBOHYD 832 832 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 930 930 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:12754519}.
CARBOHYD 989 989 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 55 358 {ECO:0000250}.
DISULFID 268 273 {ECO:0000250}.
DISULFID 412 472 {ECO:0000250}.
DISULFID 493 501 {ECO:0000250}.
VAR_SEQ 343 343 Missing (in isoform 2). {ECO:0000305}.
/FTId=VSP_047391.
VARIANT 55 55 C -> F (in MANSA; results in less than
20% of wild-type enzyme activity;
dbSNP:rs864621975).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068034.
VARIANT 72 72 H -> L (in MANSA; type II;
dbSNP:rs387906261).
{ECO:0000269|PubMed:9158146,
ECO:0000269|PubMed:9758606}.
/FTId=VAR_003338.
VARIANT 74 74 D -> E (in MANSA; results in less than
20% of wild-type enzyme activity;
dbSNP:rs746702002).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068035.
VARIANT 95 95 A -> P (in MANSA; results in less than
20% of wild-type enzyme activity;
dbSNP:rs754036398).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068036.
VARIANT 99 99 Y -> H (in MANSA; results in less than
20% of wild-type enzyme activity;
dbSNP:rs794727484).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068037.
VARIANT 159 159 D -> N (in MANSA; results in less than
20% of wild-type enzyme activity;
dbSNP:rs864621976).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068038.
VARIANT 197 197 P -> R (in MANSA; results in less than
20% of wild-type enzyme activity;
dbSNP:rs864621977).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068039.
VARIANT 200 200 H -> L (in MANSA; no residual enzyme
activity; dbSNP:rs864621978).
{ECO:0000269|PubMed:15712269,
ECO:0000269|PubMed:22161967}.
/FTId=VAR_026412.
VARIANT 200 200 H -> N (in MANSA; reduced enzyme
activity; dbSNP:rs772108001).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068040.
VARIANT 202 202 R -> P (in MANSA; reduced enzyme
activity; dbSNP:rs864621979).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068041.
VARIANT 229 229 R -> W (in MANSA; reduced enzyme
activity; dbSNP:rs763257568).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068042.
VARIANT 248 248 P -> L (in dbSNP:rs117843968).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068043.
VARIANT 250 250 A -> S (in dbSNP:rs3745650).
/FTId=VAR_049209.
VARIANT 263 263 P -> L (in MANSA; results in less than
20% of wild-type enzyme activity;
dbSNP:rs746808159).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068044.
VARIANT 278 278 L -> V (in dbSNP:rs1054486).
{ECO:0000269|PubMed:22161967,
ECO:0000269|PubMed:9915946}.
/FTId=VAR_003339.
VARIANT 282 282 P -> S (in dbSNP:rs45576136).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068045.
VARIANT 312 312 T -> I (in dbSNP:rs1054487).
{ECO:0000269|PubMed:22161967,
ECO:0000269|PubMed:9915946}.
/FTId=VAR_003340.
VARIANT 318 318 S -> L (in MANSA; reduced enzyme
activity; dbSNP:rs774034389).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068046.
VARIANT 337 337 R -> Q (in dbSNP:rs1133330).
{ECO:0000269|PubMed:22161967,
ECO:0000269|PubMed:9915946}.
/FTId=VAR_003341.
VARIANT 339 342 Missing (in MANSA).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068047.
VARIANT 352 352 L -> P (in MANSA; results in less than
20% of wild-type enzyme activity;
dbSNP:rs864621980).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068048.
VARIANT 355 355 T -> P (in MANSA; dbSNP:rs864621992).
{ECO:0000269|PubMed:9915946}.
/FTId=VAR_003342.
VARIANT 356 356 P -> R (in MANSA; type I;
dbSNP:rs121434333).
{ECO:0000269|PubMed:9758606}.
/FTId=VAR_003343.
VARIANT 379 379 P -> L (in MANSA; reduced enzyme
activity; dbSNP:rs864621981).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068049.
VARIANT 390 390 G -> C (in MANSA; results in less than
20% of wild-type enzyme activity;
dbSNP:rs864621982).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068050.
VARIANT 402 402 E -> K (in MANSA; unknown pathological
significance; dbSNP:rs370760999).
{ECO:0000269|PubMed:22161967,
ECO:0000269|PubMed:9915946}.
/FTId=VAR_003344.
VARIANT 413 413 N -> S (in dbSNP:rs35836657).
{ECO:0000269|PubMed:22161967,
ECO:0000269|PubMed:9915946}.
/FTId=VAR_003345.
VARIANT 420 420 G -> V (in MANSA; results in less than
20% of wild-type enzyme activity;
dbSNP:rs772853856).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068051.
VARIANT 445 445 H -> Y (in MANSA; results in less than
20% of wild-type enzyme activity;
dbSNP:rs864621983).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068052.
VARIANT 451 451 G -> C (in MANSA; reduced enzyme
activity; dbSNP:rs368899357).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068053.
VARIANT 453 453 S -> F (in MANSA; reduced enzyme
activity; dbSNP:rs864621984).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068054.
VARIANT 453 453 S -> Y (in MANSA; dbSNP:rs864621984).
{ECO:0000269|PubMed:12718372,
ECO:0000269|PubMed:22161967}.
/FTId=VAR_026413.
VARIANT 457 457 V -> E (in MANSA; reduced enzyme
activity; dbSNP:rs864621985).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068055.
VARIANT 481 481 A -> S (in dbSNP:rs34544747).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_049210.
VARIANT 501 501 C -> S (in MANSA; reduced enzyme
activity; dbSNP:rs747721968).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068056.
VARIANT 565 565 L -> P (in MANSA; results in less than
20% of wild-type enzyme activity;
dbSNP:rs864621986).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068057.
VARIANT 669 669 P -> L (in dbSNP:rs75029862).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068058.
VARIANT 714 714 W -> R (in MANSA; dbSNP:rs864621993).
{ECO:0000269|PubMed:9915946}.
/FTId=VAR_003346.
VARIANT 745 745 T -> R (in MANSA; results in less than
20% of wild-type enzyme activity;
dbSNP:rs864621987).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068059.
VARIANT 750 750 R -> W (in MANSA; type II;
dbSNP:rs80338680).
{ECO:0000269|PubMed:9758606}.
/FTId=VAR_003347.
VARIANT 800 800 G -> R (in MANSA; results in less than
20% of wild-type enzyme activity;
dbSNP:rs398123456).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068060.
VARIANT 800 800 G -> W (in MANSA; results in less than
20% of wild-type enzyme activity;
dbSNP:rs398123456).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068061.
VARIANT 801 801 G -> D (in MANSA; no residual enzyme
activity; dbSNP:rs864621994).
{ECO:0000269|PubMed:15712269}.
/FTId=VAR_026414.
VARIANT 809 809 L -> P (in MANSA; dbSNP:rs80338681).
{ECO:0000269|PubMed:9915946}.
/FTId=VAR_003348.
VARIANT 815 815 R -> RHR (in MANSA; results in less than
20% of wild-type enzyme activity).
/FTId=VAR_068062.
VARIANT 891 891 G -> R (in MANSA; results in less than
20% of wild-type enzyme activity;
dbSNP:rs864621988).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068063.
VARIANT 892 892 L -> P (in MANSA; results in less than
20% of wild-type enzyme activity;
dbSNP:rs864621989).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068064.
VARIANT 916 916 R -> C (in MANSA; results in less than
20% of wild-type enzyme activity;
dbSNP:rs864621990).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068065.
VARIANT 916 916 R -> H (in MANSA; results in less than
20% of wild-type enzyme activity;
dbSNP:rs758765126).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068066.
VARIANT 950 950 R -> P (in MANSA; results in less than
20% of wild-type enzyme activity;
dbSNP:rs139041112).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068067.
VARIANT 956 956 L -> R (in MANSA; results in less than
20% of wild-type enzyme activity;
dbSNP:rs768233248).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068068.
VARIANT 1000 1000 F -> S (in MANSA; results in less than
20% of wild-type enzyme activity;
dbSNP:rs864621991).
{ECO:0000269|PubMed:22161967}.
/FTId=VAR_068069.
CONFLICT 3 3 Missing (in Ref. 3; AAC51362).
{ECO:0000305}.
CONFLICT 186 186 D -> V (in Ref. 2; AAC34130).
{ECO:0000305}.
CONFLICT 384 384 P -> H (in Ref. 7; AAC50812).
{ECO:0000305}.
SEQUENCE 1011 AA; 113744 MW; E11C77C19D8BD88C CRC64;
MGAYARASGV CARGCLDSAG PWTMSRALRP PLPPLCFFLL LLAAAGARAG GYETCPTVQP
NMLNVHLLPH THDDVGWLKT VDQYFYGIKN DIQHAGVQYI LDSVISALLA DPTRRFIYVE
IAFFSRWWHQ QTNATQEVVR DLVRQGRLEF ANGGWVMNDE AATHYGAIVD QMTLGLRFLE
DTFGNDGRPR VAWHIDPFGH SREQASLFAQ MGFDGFFFGR LDYQDKWVRM QKLEMEQVWR
ASTSLKPPTA DLFTGVLPNG YNPPRNLCWD VLCVDQPLVE DPRSPEYNAK ELVDYFLNVA
TAQGRYYRTN HTVMTMGSDF QYENANMWFK NLDKLIRLVN AQQAKGSSVH VLYSTPACYL
WELNKANLTW SVKHDDFFPY ADGPHQFWTG YFSSRPALKR YERLSYNFLQ VCNQLEALVG
LAANVGPYGS GDSAPLNEAM AVLQHHDAVS GTSRQHVAND YARQLAAGWG PCEVLLSNAL
ARLRGFKDHF TFCQQLNISI CPLSQTAARF QVIVYNPLGR KVNWMVRLPV SEGVFVVKDP
NGRTVPSDVV IFPSSDSQAH PPELLFSASL PALGFSTYSV AQVPRWKPQA RAPQPIPRRS
WSPALTIENE HIRATFDPDT GLLMEIMNMN QQLLLPVRQT FFWYNASIGD NESDQASGAY
IFRPNQQKPL PVSRWAQIHL VKTPLVQEVH QNFSAWCSQV VRLYPGQRHL ELEWSVGPIP
VGDTWGKEVI SRFDTPLETK GRFYTDSNGR EILERRRDYR PTWKLNQTEP VAGNYYPVNT
RIYITDGNMQ LTVLTDRSQG GSSLRDGSLE LMVHRRLLKD DGRGVSEPLM ENGSGAWVRG
RHLVLLDTAQ AAAAGHRLLA EQEVLAPQVV LAPGGGAAYN LGAPPRTQFS GLRRDLPPSV
HLLTLASWGP EMVLLRLEHQ FAVGEDSGRN LSAPVTLNLR DLFSTFTITR LQETTLVANQ
LREAASRLKW TTNTGPTPHQ TPYQLDPANI TLEPMEIRTF LASVQWKEVD G


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