UniProtKB - O00754 (MA2B1_HUMAN)
Protein
Lysosomal alpha-mannosidase
Gene
MAN2B1
Organism
Homo sapiens (Human)
Status
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. EC:3.2.1.24
Cofactori
Zn2+By similarityNote: Binds 1 zinc ion per subunit.By similarity
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 72 | ZincBy similarity | 1 | |
Metal bindingi | 74 | ZincBy similarity | 1 | |
Active sitei | 196 | NucleophileBy similarity | 1 | |
Metal bindingi | 196 | ZincBy similarity | 1 | |
Metal bindingi | 446 | ZincBy similarity | 1 |
GO - Molecular functioni
- alpha-mannosidase activity Source: GO_Central
- carbohydrate binding Source: InterPro
- metal ion binding Source: UniProtKB-KW
GO - Biological processi
- cellular protein modification process Source: UniProtKB
- mannose metabolic process Source: InterPro
- neutrophil degranulation Source: Reactome
- oligosaccharide catabolic process Source: Reactome
- protein deglycosylation Source: ProtInc
Keywordsi
Molecular function | Glycosidase, Hydrolase |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
BRENDAi | 3.2.1.24, 2681 |
PathwayCommonsi | O00754 |
Reactomei | R-HSA-6798695, Neutrophil degranulation R-HSA-8853383, Lysosomal oligosaccharide catabolism |
Protein family/group databases
CAZyi | GH38, 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:6826, MAN2B1 |
MIMi | 609458, gene |
neXtProti | NX_O00754 |
VEuPathDBi | HostDB:ENSG00000104774.12 |
Subcellular locationi
Lysosome
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
- extracellular region Source: Reactome
- extracellular space Source: UniProtKB
Lysosome
- azurophil granule lumen Source: Reactome
- lysosomal lumen Source: Reactome
- lysosome Source: GO_Central
Other locations
- vacuolar membrane Source: GO_Central
Keywords - Cellular componenti
LysosomePathology & Biotechi
Involvement in diseasei
Mannosidosis, alpha B, lysosomal (MANSA)6 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_068034 | 55 | C → F in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621975EnsemblClinVar. | 1 | |
Natural variantiVAR_003338 | 72 | H → L in MANSA; type II. 2 PublicationsCorresponds to variant dbSNP:rs387906261EnsemblClinVar. | 1 | |
Natural variantiVAR_068035 | 74 | D → E in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs746702002EnsemblClinVar. | 1 | |
Natural variantiVAR_068036 | 95 | A → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs754036398EnsemblClinVar. | 1 | |
Natural variantiVAR_068037 | 99 | Y → H in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs794727484EnsemblClinVar. | 1 | |
Natural variantiVAR_068038 | 159 | D → N in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621976EnsemblClinVar. | 1 | |
Natural variantiVAR_068039 | 197 | P → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621977EnsemblClinVar. | 1 | |
Natural variantiVAR_026412 | 200 | H → L in MANSA; no residual enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs864621978EnsemblClinVar. | 1 | |
Natural variantiVAR_068040 | 200 | H → N in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs772108001EnsemblClinVar. | 1 | |
Natural variantiVAR_068041 | 202 | R → P in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621979EnsemblClinVar. | 1 | |
Natural variantiVAR_068042 | 229 | R → W in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs763257568EnsemblClinVar. | 1 | |
Natural variantiVAR_068044 | 263 | P → L in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs746808159EnsemblClinVar. | 1 | |
Natural variantiVAR_068046 | 318 | S → L in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs774034389EnsemblClinVar. | 1 | |
Natural variantiVAR_068047 | 339 – 342 | Missing in MANSA. 1 Publication | 4 | |
Natural variantiVAR_068048 | 352 | L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621980EnsemblClinVar. | 1 | |
Natural variantiVAR_003342 | 355 | T → P in MANSA. 1 PublicationCorresponds to variant dbSNP:rs864621992EnsemblClinVar. | 1 | |
Natural variantiVAR_003343 | 356 | P → R in MANSA; type I. 1 PublicationCorresponds to variant dbSNP:rs121434333EnsemblClinVar. | 1 | |
Natural variantiVAR_068049 | 379 | P → L in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621981EnsemblClinVar. | 1 | |
Natural variantiVAR_068050 | 390 | G → C in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621982EnsemblClinVar. | 1 | |
Natural variantiVAR_003344 | 402 | E → K in MANSA; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs370760999EnsemblClinVar. | 1 | |
Natural variantiVAR_068051 | 420 | G → V in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs772853856EnsemblClinVar. | 1 | |
Natural variantiVAR_068052 | 445 | H → Y in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621983EnsemblClinVar. | 1 | |
Natural variantiVAR_068053 | 451 | G → C in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs368899357EnsemblClinVar. | 1 | |
Natural variantiVAR_068054 | 453 | S → F in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621984EnsemblClinVar. | 1 | |
Natural variantiVAR_026413 | 453 | S → Y in MANSA. 2 PublicationsCorresponds to variant dbSNP:rs864621984EnsemblClinVar. | 1 | |
Natural variantiVAR_068055 | 457 | V → E in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621985EnsemblClinVar. | 1 | |
Natural variantiVAR_068056 | 501 | C → S in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs747721968EnsemblClinVar. | 1 | |
Natural variantiVAR_068057 | 565 | L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621986EnsemblClinVar. | 1 | |
Natural variantiVAR_003346 | 714 | W → R in MANSA. 1 PublicationCorresponds to variant dbSNP:rs864621993EnsemblClinVar. | 1 | |
Natural variantiVAR_068059 | 745 | T → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621987EnsemblClinVar. | 1 | |
Natural variantiVAR_003347 | 750 | R → W in MANSA; type II. 1 PublicationCorresponds to variant dbSNP:rs80338680EnsemblClinVar. | 1 | |
Natural variantiVAR_068060 | 800 | G → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs398123456EnsemblClinVar. | 1 | |
Natural variantiVAR_068061 | 800 | G → W in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs398123456EnsemblClinVar. | 1 | |
Natural variantiVAR_026414 | 801 | G → D in MANSA; no residual enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621994EnsemblClinVar. | 1 | |
Natural variantiVAR_003348 | 809 | L → P in MANSA. 1 PublicationCorresponds to variant dbSNP:rs80338681EnsemblClinVar. | 1 | |
Natural variantiVAR_068062 | 815 | R → RHR in MANSA; results in less than 20% of wild-type enzyme activity. | 1 | |
Natural variantiVAR_068063 | 891 | G → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621988EnsemblClinVar. | 1 | |
Natural variantiVAR_068064 | 892 | L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621989EnsemblClinVar. | 1 | |
Natural variantiVAR_068065 | 916 | R → C in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621990EnsemblClinVar. | 1 | |
Natural variantiVAR_068066 | 916 | R → H in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs758765126EnsemblClinVar. | 1 | |
Natural variantiVAR_068067 | 950 | R → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs139041112EnsemblClinVar. | 1 | |
Natural variantiVAR_068068 | 956 | L → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs768233248EnsemblClinVar. | 1 | |
Natural variantiVAR_068069 | 1000 | F → S in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621991EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 4125 |
GeneReviewsi | MAN2B1 |
MalaCardsi | MAN2B1 |
MIMi | 248500, phenotype |
OpenTargetsi | ENSG00000104774 |
Orphaneti | 309288, Alpha-mannosidosis, adult form 309282, Alpha-mannosidosis, infantile form |
PharmGKBi | PA30575 |
Miscellaneous databases
Pharosi | O00754, Tchem |
Chemistry databases
ChEMBLi | CHEMBL4059 |
Genetic variation databases
BioMutai | MAN2B1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 49 | Add BLAST | 49 | |
ChainiPRO_0000012069 | 50 – 1011 | Lysosomal alpha-mannosidaseAdd BLAST | 962 | |
ChainiPRO_0000012070 | 50 – 345 | Lysosomal alpha-mannosidase A peptideAdd BLAST | 296 | |
ChainiPRO_0000012071 | 346 – 429 | Lysosomal alpha-mannosidase B peptideAdd BLAST | 84 | |
ChainiPRO_0000012072 | 430 – 601 | Lysosomal alpha-mannosidase C peptideAdd BLAST | 172 | |
ChainiPRO_0000012073 | 602 – 882 | Lysosomal alpha-mannosidase D peptideAdd BLAST | 281 | |
ChainiPRO_0000012074 | 883 – 1011 | Lysosomal alpha-mannosidase E peptideAdd BLAST | 129 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 55 ↔ 358 | By similarity | ||
Glycosylationi | 133 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 268 ↔ 273 | By similarity | ||
Glycosylationi | 310 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 367 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Disulfide bondi | 412 ↔ 472 | By similarity | ||
Disulfide bondi | 493 ↔ 501 | By similarity | ||
Glycosylationi | 497 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 645 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 651 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 692 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 766 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 832 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 930 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 989 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
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, ZymogenProteomic databases
CPTACi | CPTAC-2225 |
EPDi | O00754 |
jPOSTi | O00754 |
MassIVEi | O00754 |
MaxQBi | O00754 |
PaxDbi | O00754 |
PeptideAtlasi | O00754 |
PRIDEi | O00754 |
ProteomicsDBi | 33811 48018 [O00754-1] |
PTM databases
GlyConnecti | 775, 16 N-Linked glycans (6 sites) |
GlyGeni | O00754, 12 sites, 1 N-linked glycan (1 site) |
iPTMneti | O00754 |
PhosphoSitePlusi | O00754 |
Expressioni
Gene expression databases
Bgeei | ENSG00000104774, Expressed in testis and 120 other tissues |
ExpressionAtlasi | O00754, baseline and differential |
Genevisiblei | O00754, HS |
Organism-specific databases
HPAi | ENSG00000104774, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 110298, 19 interactors |
IntActi | O00754, 5 interactors |
MINTi | O00754 |
STRINGi | 9606.ENSP00000395473 |
Chemistry databases
BindingDBi | O00754 |
Miscellaneous databases
RNActi | O00754, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the glycosyl hydrolase 38 family.Curated
Keywords - Domaini
SignalPhylogenomic databases
eggNOGi | KOG1959, Eukaryota |
GeneTreei | ENSGT01010000222392 |
HOGENOMi | CLU_004690_2_0_1 |
InParanoidi | O00754 |
OMAi | MWYKNLD |
OrthoDBi | 172471at2759 |
PhylomeDBi | O00754 |
TreeFami | TF313840 |
Family and domain databases
Gene3Di | 1.20.1270.50, 2 hits 2.60.40.1180, 1 hit 3.20.110.10, 1 hit |
InterProi | View protein in InterPro IPR011013, Gal_mutarotase_sf_dom IPR041147, GH38_C IPR011330, Glyco_hydro/deAcase_b/a-brl IPR011682, Glyco_hydro_38_C IPR015341, Glyco_hydro_38_cen IPR037094, Glyco_hydro_38_cen_sf IPR000602, Glyco_hydro_38_N IPR027291, Glyco_hydro_38_N_sf IPR028995, Glyco_hydro_57/38_cen_sf IPR013780, Glyco_hydro_b |
Pfami | View protein in Pfam PF09261, Alpha-mann_mid, 1 hit PF17677, Glyco_hydro38C2, 1 hit PF07748, Glyco_hydro_38C, 1 hit PF01074, Glyco_hydro_38N, 1 hit |
SMARTi | View protein in SMART SM00872, Alpha-mann_mid, 1 hit |
SUPFAMi | SSF74650, SSF74650, 1 hit SSF88688, SSF88688, 1 hit SSF88713, SSF88713, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: O00754-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MGAYARASGV CARGCLDSAG PWTMSRALRP PLPPLCFFLL LLAAAGARAG
60 70 80 90 100
GYETCPTVQP NMLNVHLLPH THDDVGWLKT VDQYFYGIKN DIQHAGVQYI
110 120 130 140 150
LDSVISALLA DPTRRFIYVE IAFFSRWWHQ QTNATQEVVR DLVRQGRLEF
160 170 180 190 200
ANGGWVMNDE AATHYGAIVD QMTLGLRFLE DTFGNDGRPR VAWHIDPFGH
210 220 230 240 250
SREQASLFAQ MGFDGFFFGR LDYQDKWVRM QKLEMEQVWR ASTSLKPPTA
260 270 280 290 300
DLFTGVLPNG YNPPRNLCWD VLCVDQPLVE DPRSPEYNAK ELVDYFLNVA
310 320 330 340 350
TAQGRYYRTN HTVMTMGSDF QYENANMWFK NLDKLIRLVN AQQAKGSSVH
360 370 380 390 400
VLYSTPACYL WELNKANLTW SVKHDDFFPY ADGPHQFWTG YFSSRPALKR
410 420 430 440 450
YERLSYNFLQ VCNQLEALVG LAANVGPYGS GDSAPLNEAM AVLQHHDAVS
460 470 480 490 500
GTSRQHVAND YARQLAAGWG PCEVLLSNAL ARLRGFKDHF TFCQQLNISI
510 520 530 540 550
CPLSQTAARF QVIVYNPLGR KVNWMVRLPV SEGVFVVKDP NGRTVPSDVV
560 570 580 590 600
IFPSSDSQAH PPELLFSASL PALGFSTYSV AQVPRWKPQA RAPQPIPRRS
610 620 630 640 650
WSPALTIENE HIRATFDPDT GLLMEIMNMN QQLLLPVRQT FFWYNASIGD
660 670 680 690 700
NESDQASGAY IFRPNQQKPL PVSRWAQIHL VKTPLVQEVH QNFSAWCSQV
710 720 730 740 750
VRLYPGQRHL ELEWSVGPIP VGDTWGKEVI SRFDTPLETK GRFYTDSNGR
760 770 780 790 800
EILERRRDYR PTWKLNQTEP VAGNYYPVNT RIYITDGNMQ LTVLTDRSQG
810 820 830 840 850
GSSLRDGSLE LMVHRRLLKD DGRGVSEPLM ENGSGAWVRG RHLVLLDTAQ
860 870 880 890 900
AAAAGHRLLA EQEVLAPQVV LAPGGGAAYN LGAPPRTQFS GLRRDLPPSV
910 920 930 940 950
HLLTLASWGP EMVLLRLEHQ FAVGEDSGRN LSAPVTLNLR DLFSTFTITR
960 970 980 990 1000
LQETTLVANQ LREAASRLKW TTNTGPTPHQ TPYQLDPANI TLEPMEIRTF
1010
LASVQWKEVD G
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketM0QZG6 | M0QZG6_HUMAN | Lysosomal alpha-mannosidase | MAN2B1 | 172 | Annotation score: | ||
M0QYZ1 | M0QYZ1_HUMAN | Lysosomal alpha-mannosidase | MAN2B1 | 164 | Annotation score: | ||
M0R174 | M0R174_HUMAN | Lysosomal alpha-mannosidase | MAN2B1 | 140 | Annotation score: | ||
M0QXY0 | M0QXY0_HUMAN | Lysosomal alpha-mannosidase | MAN2B1 | 67 | Annotation score: |
Sequence cautioni
The sequence AAB03816 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAC50812 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 3 | Missing in AAC51362 (PubMed:9192839).Curated | 1 | |
Sequence conflicti | 186 | D → V in AAC34130 (PubMed:9158146).Curated | 1 | |
Sequence conflicti | 384 | P → H in AAC50812 (PubMed:8910458).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_068034 | 55 | C → F in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621975EnsemblClinVar. | 1 | |
Natural variantiVAR_003338 | 72 | H → L in MANSA; type II. 2 PublicationsCorresponds to variant dbSNP:rs387906261EnsemblClinVar. | 1 | |
Natural variantiVAR_068035 | 74 | D → E in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs746702002EnsemblClinVar. | 1 | |
Natural variantiVAR_068036 | 95 | A → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs754036398EnsemblClinVar. | 1 | |
Natural variantiVAR_068037 | 99 | Y → H in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs794727484EnsemblClinVar. | 1 | |
Natural variantiVAR_068038 | 159 | D → N in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621976EnsemblClinVar. | 1 | |
Natural variantiVAR_068039 | 197 | P → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621977EnsemblClinVar. | 1 | |
Natural variantiVAR_026412 | 200 | H → L in MANSA; no residual enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs864621978EnsemblClinVar. | 1 | |
Natural variantiVAR_068040 | 200 | H → N in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs772108001EnsemblClinVar. | 1 | |
Natural variantiVAR_068041 | 202 | R → P in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621979EnsemblClinVar. | 1 | |
Natural variantiVAR_068042 | 229 | R → W in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs763257568EnsemblClinVar. | 1 | |
Natural variantiVAR_068043 | 248 | P → L1 PublicationCorresponds to variant dbSNP:rs117843968EnsemblClinVar. | 1 | |
Natural variantiVAR_049209 | 250 | A → S. Corresponds to variant dbSNP:rs3745650EnsemblClinVar. | 1 | |
Natural variantiVAR_068044 | 263 | P → L in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs746808159EnsemblClinVar. | 1 | |
Natural variantiVAR_003339 | 278 | L → V2 PublicationsCorresponds to variant dbSNP:rs1054486EnsemblClinVar. | 1 | |
Natural variantiVAR_068045 | 282 | P → S1 PublicationCorresponds to variant dbSNP:rs45576136EnsemblClinVar. | 1 | |
Natural variantiVAR_003340 | 312 | T → I2 PublicationsCorresponds to variant dbSNP:rs1054487EnsemblClinVar. | 1 | |
Natural variantiVAR_068046 | 318 | S → L in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs774034389EnsemblClinVar. | 1 | |
Natural variantiVAR_003341 | 337 | R → Q2 PublicationsCorresponds to variant dbSNP:rs1133330EnsemblClinVar. | 1 | |
Natural variantiVAR_068047 | 339 – 342 | Missing in MANSA. 1 Publication | 4 | |
Natural variantiVAR_068048 | 352 | L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621980EnsemblClinVar. | 1 | |
Natural variantiVAR_003342 | 355 | T → P in MANSA. 1 PublicationCorresponds to variant dbSNP:rs864621992EnsemblClinVar. | 1 | |
Natural variantiVAR_003343 | 356 | P → R in MANSA; type I. 1 PublicationCorresponds to variant dbSNP:rs121434333EnsemblClinVar. | 1 | |
Natural variantiVAR_068049 | 379 | P → L in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621981EnsemblClinVar. | 1 | |
Natural variantiVAR_068050 | 390 | G → C in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621982EnsemblClinVar. | 1 | |
Natural variantiVAR_003344 | 402 | E → K in MANSA; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs370760999EnsemblClinVar. | 1 | |
Natural variantiVAR_003345 | 413 | N → S2 PublicationsCorresponds to variant dbSNP:rs35836657EnsemblClinVar. | 1 | |
Natural variantiVAR_068051 | 420 | G → V in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs772853856EnsemblClinVar. | 1 | |
Natural variantiVAR_068052 | 445 | H → Y in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621983EnsemblClinVar. | 1 | |
Natural variantiVAR_068053 | 451 | G → C in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs368899357EnsemblClinVar. | 1 | |
Natural variantiVAR_068054 | 453 | S → F in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621984EnsemblClinVar. | 1 | |
Natural variantiVAR_026413 | 453 | S → Y in MANSA. 2 PublicationsCorresponds to variant dbSNP:rs864621984EnsemblClinVar. | 1 | |
Natural variantiVAR_068055 | 457 | V → E in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621985EnsemblClinVar. | 1 | |
Natural variantiVAR_049210 | 481 | A → S1 PublicationCorresponds to variant dbSNP:rs34544747EnsemblClinVar. | 1 | |
Natural variantiVAR_068056 | 501 | C → S in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs747721968EnsemblClinVar. | 1 | |
Natural variantiVAR_068057 | 565 | L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621986EnsemblClinVar. | 1 | |
Natural variantiVAR_068058 | 669 | P → L1 PublicationCorresponds to variant dbSNP:rs75029862EnsemblClinVar. | 1 | |
Natural variantiVAR_003346 | 714 | W → R in MANSA. 1 PublicationCorresponds to variant dbSNP:rs864621993EnsemblClinVar. | 1 | |
Natural variantiVAR_068059 | 745 | T → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621987EnsemblClinVar. | 1 | |
Natural variantiVAR_003347 | 750 | R → W in MANSA; type II. 1 PublicationCorresponds to variant dbSNP:rs80338680EnsemblClinVar. | 1 | |
Natural variantiVAR_068060 | 800 | G → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs398123456EnsemblClinVar. | 1 | |
Natural variantiVAR_068061 | 800 | G → W in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs398123456EnsemblClinVar. | 1 | |
Natural variantiVAR_026414 | 801 | G → D in MANSA; no residual enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621994EnsemblClinVar. | 1 | |
Natural variantiVAR_003348 | 809 | L → P in MANSA. 1 PublicationCorresponds to variant dbSNP:rs80338681EnsemblClinVar. | 1 | |
Natural variantiVAR_068062 | 815 | R → RHR in MANSA; results in less than 20% of wild-type enzyme activity. | 1 | |
Natural variantiVAR_068063 | 891 | G → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621988EnsemblClinVar. | 1 | |
Natural variantiVAR_068064 | 892 | L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621989EnsemblClinVar. | 1 | |
Natural variantiVAR_068065 | 916 | R → C in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621990EnsemblClinVar. | 1 | |
Natural variantiVAR_068066 | 916 | R → H in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs758765126EnsemblClinVar. | 1 | |
Natural variantiVAR_068067 | 950 | R → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs139041112EnsemblClinVar. | 1 | |
Natural variantiVAR_068068 | 956 | L → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs768233248EnsemblClinVar. | 1 | |
Natural variantiVAR_068069 | 1000 | F → S in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621991EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_047391 | 343 | Missing in isoform 2. Curated | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi 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] |
Genome annotation databases
Ensembli | ENST00000221363; ENSP00000221363; ENSG00000104774 [O00754-2] ENST00000456935; ENSP00000395473; ENSG00000104774 [O00754-1] |
GeneIDi | 4125 |
KEGGi | hsa:4125 |
UCSCi | uc002mub.3, human [O00754-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Mendelian genes mannosidase, alpha, class 2B, member 1 (MAN2B1) Leiden Open Variation Database (LOVD) |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi 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] |
3D structure databases
SMRi | O00754 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 110298, 19 interactors |
IntActi | O00754, 5 interactors |
MINTi | O00754 |
STRINGi | 9606.ENSP00000395473 |
Chemistry databases
BindingDBi | O00754 |
ChEMBLi | CHEMBL4059 |
Protein family/group databases
CAZyi | GH38, Glycoside Hydrolase Family 38 |
PTM databases
GlyConnecti | 775, 16 N-Linked glycans (6 sites) |
GlyGeni | O00754, 12 sites, 1 N-linked glycan (1 site) |
iPTMneti | O00754 |
PhosphoSitePlusi | O00754 |
Genetic variation databases
BioMutai | MAN2B1 |
Proteomic databases
CPTACi | CPTAC-2225 |
EPDi | O00754 |
jPOSTi | O00754 |
MassIVEi | O00754 |
MaxQBi | O00754 |
PaxDbi | O00754 |
PeptideAtlasi | O00754 |
PRIDEi | O00754 |
ProteomicsDBi | 33811 48018 [O00754-1] |
Protocols and materials databases
Antibodypediai | 26063, 54 antibodies |
DNASUi | 4125 |
Genome annotation databases
Ensembli | ENST00000221363; ENSP00000221363; ENSG00000104774 [O00754-2] ENST00000456935; ENSP00000395473; ENSG00000104774 [O00754-1] |
GeneIDi | 4125 |
KEGGi | hsa:4125 |
UCSCi | uc002mub.3, human [O00754-1] |
Organism-specific databases
CTDi | 4125 |
DisGeNETi | 4125 |
GeneCardsi | MAN2B1 |
GeneReviewsi | MAN2B1 |
HGNCi | HGNC:6826, MAN2B1 |
HPAi | ENSG00000104774, Low tissue specificity |
MalaCardsi | MAN2B1 |
MIMi | 248500, phenotype 609458, gene |
neXtProti | NX_O00754 |
OpenTargetsi | ENSG00000104774 |
Orphaneti | 309288, Alpha-mannosidosis, adult form 309282, Alpha-mannosidosis, infantile form |
PharmGKBi | PA30575 |
VEuPathDBi | HostDB:ENSG00000104774.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1959, Eukaryota |
GeneTreei | ENSGT01010000222392 |
HOGENOMi | CLU_004690_2_0_1 |
InParanoidi | O00754 |
OMAi | MWYKNLD |
OrthoDBi | 172471at2759 |
PhylomeDBi | O00754 |
TreeFami | TF313840 |
Enzyme and pathway databases
BRENDAi | 3.2.1.24, 2681 |
PathwayCommonsi | O00754 |
Reactomei | R-HSA-6798695, Neutrophil degranulation R-HSA-8853383, Lysosomal oligosaccharide catabolism |
Miscellaneous databases
BioGRID-ORCSi | 4125, 6 hits in 876 CRISPR screens |
ChiTaRSi | MAN2B1, human |
GenomeRNAii | 4125 |
Pharosi | O00754, Tchem |
PROi | PR:O00754 |
RNActi | O00754, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000104774, Expressed in testis and 120 other tissues |
ExpressionAtlasi | O00754, baseline and differential |
Genevisiblei | O00754, HS |
Family and domain databases
Gene3Di | 1.20.1270.50, 2 hits 2.60.40.1180, 1 hit 3.20.110.10, 1 hit |
InterProi | View protein in InterPro IPR011013, Gal_mutarotase_sf_dom IPR041147, GH38_C IPR011330, Glyco_hydro/deAcase_b/a-brl IPR011682, Glyco_hydro_38_C IPR015341, Glyco_hydro_38_cen IPR037094, Glyco_hydro_38_cen_sf IPR000602, Glyco_hydro_38_N IPR027291, Glyco_hydro_38_N_sf IPR028995, Glyco_hydro_57/38_cen_sf IPR013780, Glyco_hydro_b |
Pfami | View protein in Pfam PF09261, Alpha-mann_mid, 1 hit PF17677, Glyco_hydro38C2, 1 hit PF07748, Glyco_hydro_38C, 1 hit PF01074, Glyco_hydro_38N, 1 hit |
SMARTi | View protein in SMART SM00872, Alpha-mann_mid, 1 hit |
SUPFAMi | SSF74650, SSF74650, 1 hit SSF88688, SSF88688, 1 hit SSF88713, SSF88713, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MA2B1_HUMAN | |
Accessioni | O00754Primary (citable) accession number: O00754 Secondary accession number(s): G5E928 Q9BW13 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1998 |
Last sequence update: | October 31, 2006 | |
Last modified: | February 10, 2021 | |
This is version 210 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Direct protein sequencing, Reference proteomeDocuments
- Glycosyl hydrolases
Classification of glycosyl hydrolase families and list of entries - Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families