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UniProtKB - O00754 (MA2B1_HUMAN)

Protein

Lysosomal alpha-mannosidase

Gene

MAN2B1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

Zn2+By similarityNote: Binds 1 zinc ion per subunit.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi72ZincBy similarity1
Metal bindingi74ZincBy similarity1
Active sitei196NucleophileBy similarity1
Metal bindingi196ZincBy similarity1
Metal bindingi446ZincBy similarity1

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • cellular protein modification process Source: UniProtKB
  • mannose metabolic process Source: GO_Central
  • neutrophil degranulation Source: Reactome
  • oligosaccharide catabolic process Source: Reactome
  • protein deglycosylation Source: ProtInc
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionGlycosidase, Hydrolase
LigandMetal-binding, Zinc

Enzyme and pathway databases

BRENDAi3.2.1.24 2681
ReactomeiR-HSA-6798695 Neutrophil degranulation
R-HSA-8853383 Lysosomal oligosaccharide catabolism

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:
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
Gene namesi
Name:MAN2B1
Synonyms:LAMAN, MANB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000104774.12
HGNCiHGNC:6826 MAN2B1
MIMi609458 gene
neXtProtiNX_O00754

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

Mannosidosis, alpha B, lysosomal (MANSA)6 Publications
The disease is caused by mutations 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.
See also OMIM:248500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06803455C → F in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621975EnsemblClinVar.1
Natural variantiVAR_00333872H → L in MANSA; type II. 2 PublicationsCorresponds to variant dbSNP:rs387906261EnsemblClinVar.1
Natural variantiVAR_06803574D → E in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs746702002EnsemblClinVar.1
Natural variantiVAR_06803695A → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs754036398EnsemblClinVar.1
Natural variantiVAR_06803799Y → H in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs794727484EnsemblClinVar.1
Natural variantiVAR_068038159D → N in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621976EnsemblClinVar.1
Natural variantiVAR_068039197P → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621977EnsemblClinVar.1
Natural variantiVAR_026412200H → L in MANSA; no residual enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs864621978EnsemblClinVar.1
Natural variantiVAR_068040200H → N in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs772108001EnsemblClinVar.1
Natural variantiVAR_068041202R → P in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621979EnsemblClinVar.1
Natural variantiVAR_068042229R → W in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs763257568EnsemblClinVar.1
Natural variantiVAR_068044263P → L in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs746808159EnsemblClinVar.1
Natural variantiVAR_068046318S → L in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs774034389EnsemblClinVar.1
Natural variantiVAR_068047339 – 342Missing in MANSA. 1 Publication4
Natural variantiVAR_068048352L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621980EnsemblClinVar.1
Natural variantiVAR_003342355T → P in MANSA. 1 PublicationCorresponds to variant dbSNP:rs864621992EnsemblClinVar.1
Natural variantiVAR_003343356P → R in MANSA; type I. 1 PublicationCorresponds to variant dbSNP:rs121434333EnsemblClinVar.1
Natural variantiVAR_068049379P → L in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621981EnsemblClinVar.1
Natural variantiVAR_068050390G → C in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621982EnsemblClinVar.1
Natural variantiVAR_003344402E → K in MANSA; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs370760999EnsemblClinVar.1
Natural variantiVAR_068051420G → V in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs772853856EnsemblClinVar.1
Natural variantiVAR_068052445H → Y in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621983EnsemblClinVar.1
Natural variantiVAR_068053451G → C in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs368899357EnsemblClinVar.1
Natural variantiVAR_068054453S → F in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621984EnsemblClinVar.1
Natural variantiVAR_026413453S → Y in MANSA. 2 PublicationsCorresponds to variant dbSNP:rs864621984EnsemblClinVar.1
Natural variantiVAR_068055457V → E in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621985EnsemblClinVar.1
Natural variantiVAR_068056501C → S in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs747721968EnsemblClinVar.1
Natural variantiVAR_068057565L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621986EnsemblClinVar.1
Natural variantiVAR_003346714W → R in MANSA. 1 PublicationCorresponds to variant dbSNP:rs864621993EnsemblClinVar.1
Natural variantiVAR_068059745T → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621987EnsemblClinVar.1
Natural variantiVAR_003347750R → W in MANSA; type II. 1 PublicationCorresponds to variant dbSNP:rs80338680EnsemblClinVar.1
Natural variantiVAR_068060800G → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs398123456EnsemblClinVar.1
Natural variantiVAR_068061800G → W in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs398123456EnsemblClinVar.1
Natural variantiVAR_026414801G → D in MANSA; no residual enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621994EnsemblClinVar.1
Natural variantiVAR_003348809L → P in MANSA. 1 PublicationCorresponds to variant dbSNP:rs80338681EnsemblClinVar.1
Natural variantiVAR_068062815R → RHR in MANSA; results in less than 20% of wild-type enzyme activity. 1
Natural variantiVAR_068063891G → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621988EnsemblClinVar.1
Natural variantiVAR_068064892L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621989EnsemblClinVar.1
Natural variantiVAR_068065916R → C in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621990EnsemblClinVar.1
Natural variantiVAR_068066916R → H in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs758765126EnsemblClinVar.1
Natural variantiVAR_068067950R → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs139041112EnsemblClinVar.1
Natural variantiVAR_068068956L → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs768233248EnsemblClinVar.1
Natural variantiVAR_0680691000F → S in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621991EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi4125
GeneReviewsiMAN2B1
MalaCardsiMAN2B1
MIMi248500 phenotype
OpenTargetsiENSG00000104774
Orphaneti309288 Alpha-mannosidosis, adult form
309282 Alpha-mannosidosis, infantile form
PharmGKBiPA30575

Chemistry databases

ChEMBLiCHEMBL4059

Polymorphism and mutation databases

BioMutaiMAN2B1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 49Add BLAST49
ChainiPRO_000001206950 – 1011Lysosomal alpha-mannosidaseAdd BLAST962
ChainiPRO_000001207050 – 345Lysosomal alpha-mannosidase A peptideAdd BLAST296
ChainiPRO_0000012071346 – 429Lysosomal alpha-mannosidase B peptideAdd BLAST84
ChainiPRO_0000012072430 – 601Lysosomal alpha-mannosidase C peptideAdd BLAST172
ChainiPRO_0000012073602 – 882Lysosomal alpha-mannosidase D peptideAdd BLAST281
ChainiPRO_0000012074883 – 1011Lysosomal alpha-mannosidase E peptideAdd BLAST129

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi55 ↔ 358By similarity
Glycosylationi133N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi268 ↔ 273By similarity
Glycosylationi310N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi367N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi412 ↔ 472By similarity
Disulfide bondi493 ↔ 501By similarity
Glycosylationi497N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi645N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi651N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi692N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi766N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi832N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi930N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi989N-linked (GlcNAc...) asparagineSequence analysis1

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

EPDiO00754
MaxQBiO00754
PaxDbiO00754
PeptideAtlasiO00754
PRIDEiO00754
ProteomicsDBi48018

PTM databases

GlyConnecti775
iPTMnetiO00754
PhosphoSitePlusiO00754
UniCarbKBiO00754

Expressioni

Gene expression databases

BgeeiENSG00000104774 Expressed in 95 organ(s), highest expression level in leukocyte
CleanExiHS_MAN2B1
ExpressionAtlasiO00754 baseline and differential
GenevisibleiO00754 HS

Organism-specific databases

HPAiHPA041530
HPA053404

Interactioni

Protein-protein interaction databases

BioGridi110298, 17 interactors
IntActiO00754, 2 interactors
MINTiO00754
STRINGi9606.ENSP00000395473

Chemistry databases

BindingDBiO00754

Structurei

3D structure databases

ProteinModelPortaliO00754
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyl hydrolase 38 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG1959 Eukaryota
ENOG410XQMZ LUCA
GeneTreeiENSGT00510000046304
HOGENOMiHOG000007676
HOVERGENiHBG052391
InParanoidiO00754
KOiK12311
OMAiMWYKNLD
OrthoDBiEOG091G02IS
PhylomeDBiO00754
TreeFamiTF313840

Family and domain databases

Gene3Di1.20.1270.50, 2 hits
2.60.40.1180, 1 hit
3.20.110.10, 1 hit
InterProiView protein in InterPro
IPR011013 Gal_mutarotase_sf_dom
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
PfamiView protein in Pfam
PF09261 Alpha-mann_mid, 1 hit
PF01074 Glyco_hydro_38, 1 hit
PF07748 Glyco_hydro_38C, 1 hit
SMARTiView protein in SMART
SM00872 Alpha-mann_mid, 1 hit
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. AlignAdd to basket

This 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 '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
        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
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

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0QYZ1M0QYZ1_HUMAN
Lysosomal alpha-mannosidase
MAN2B1
164Annotation score:
M0QZG6M0QZG6_HUMAN
Lysosomal alpha-mannosidase
MAN2B1
172Annotation score:
M0R174M0R174_HUMAN
Lysosomal alpha-mannosidase
MAN2B1
140Annotation score:
M0QXY0M0QXY0_HUMAN
Lysosomal alpha-mannosidase
MAN2B1
67Annotation score:

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti3Missing in AAC51362 (PubMed:9192839).Curated1
Sequence conflicti186D → V in AAC34130 (PubMed:9158146).Curated1
Sequence conflicti384P → H in AAC50812 (PubMed:8910458).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06803455C → F in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621975EnsemblClinVar.1
Natural variantiVAR_00333872H → L in MANSA; type II. 2 PublicationsCorresponds to variant dbSNP:rs387906261EnsemblClinVar.1
Natural variantiVAR_06803574D → E in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs746702002EnsemblClinVar.1
Natural variantiVAR_06803695A → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs754036398EnsemblClinVar.1
Natural variantiVAR_06803799Y → H in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs794727484EnsemblClinVar.1
Natural variantiVAR_068038159D → N in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621976EnsemblClinVar.1
Natural variantiVAR_068039197P → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621977EnsemblClinVar.1
Natural variantiVAR_026412200H → L in MANSA; no residual enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs864621978EnsemblClinVar.1
Natural variantiVAR_068040200H → N in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs772108001EnsemblClinVar.1
Natural variantiVAR_068041202R → P in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621979EnsemblClinVar.1
Natural variantiVAR_068042229R → W in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs763257568EnsemblClinVar.1
Natural variantiVAR_068043248P → L1 PublicationCorresponds to variant dbSNP:rs117843968EnsemblClinVar.1
Natural variantiVAR_049209250A → S. Corresponds to variant dbSNP:rs3745650Ensembl.1
Natural variantiVAR_068044263P → L in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs746808159EnsemblClinVar.1
Natural variantiVAR_003339278L → V2 PublicationsCorresponds to variant dbSNP:rs1054486EnsemblClinVar.1
Natural variantiVAR_068045282P → S1 PublicationCorresponds to variant dbSNP:rs45576136EnsemblClinVar.1
Natural variantiVAR_003340312T → I2 PublicationsCorresponds to variant dbSNP:rs1054487EnsemblClinVar.1
Natural variantiVAR_068046318S → L in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs774034389EnsemblClinVar.1
Natural variantiVAR_003341337R → Q2 PublicationsCorresponds to variant dbSNP:rs1133330EnsemblClinVar.1
Natural variantiVAR_068047339 – 342Missing in MANSA. 1 Publication4
Natural variantiVAR_068048352L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621980EnsemblClinVar.1
Natural variantiVAR_003342355T → P in MANSA. 1 PublicationCorresponds to variant dbSNP:rs864621992EnsemblClinVar.1
Natural variantiVAR_003343356P → R in MANSA; type I. 1 PublicationCorresponds to variant dbSNP:rs121434333EnsemblClinVar.1
Natural variantiVAR_068049379P → L in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621981EnsemblClinVar.1
Natural variantiVAR_068050390G → C in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621982EnsemblClinVar.1
Natural variantiVAR_003344402E → K in MANSA; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs370760999EnsemblClinVar.1
Natural variantiVAR_003345413N → S2 PublicationsCorresponds to variant dbSNP:rs35836657EnsemblClinVar.1
Natural variantiVAR_068051420G → V in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs772853856EnsemblClinVar.1
Natural variantiVAR_068052445H → Y in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621983EnsemblClinVar.1
Natural variantiVAR_068053451G → C in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs368899357EnsemblClinVar.1
Natural variantiVAR_068054453S → F in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621984EnsemblClinVar.1
Natural variantiVAR_026413453S → Y in MANSA. 2 PublicationsCorresponds to variant dbSNP:rs864621984EnsemblClinVar.1
Natural variantiVAR_068055457V → E in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621985EnsemblClinVar.1
Natural variantiVAR_049210481A → S1 PublicationCorresponds to variant dbSNP:rs34544747EnsemblClinVar.1
Natural variantiVAR_068056501C → S in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs747721968EnsemblClinVar.1
Natural variantiVAR_068057565L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621986EnsemblClinVar.1
Natural variantiVAR_068058669P → L1 PublicationCorresponds to variant dbSNP:rs75029862EnsemblClinVar.1
Natural variantiVAR_003346714W → R in MANSA. 1 PublicationCorresponds to variant dbSNP:rs864621993EnsemblClinVar.1
Natural variantiVAR_068059745T → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621987EnsemblClinVar.1
Natural variantiVAR_003347750R → W in MANSA; type II. 1 PublicationCorresponds to variant dbSNP:rs80338680EnsemblClinVar.1
Natural variantiVAR_068060800G → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs398123456EnsemblClinVar.1
Natural variantiVAR_068061800G → W in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs398123456EnsemblClinVar.1
Natural variantiVAR_026414801G → D in MANSA; no residual enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621994EnsemblClinVar.1
Natural variantiVAR_003348809L → P in MANSA. 1 PublicationCorresponds to variant dbSNP:rs80338681EnsemblClinVar.1
Natural variantiVAR_068062815R → RHR in MANSA; results in less than 20% of wild-type enzyme activity. 1
Natural variantiVAR_068063891G → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621988EnsemblClinVar.1
Natural variantiVAR_068064892L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621989EnsemblClinVar.1
Natural variantiVAR_068065916R → C in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621990EnsemblClinVar.1
Natural variantiVAR_068066916R → H in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs758765126EnsemblClinVar.1
Natural variantiVAR_068067950R → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs139041112EnsemblClinVar.1
Natural variantiVAR_068068956L → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs768233248EnsemblClinVar.1
Natural variantiVAR_0680691000F → S in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621991EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_047391343Missing in isoform 2. Curated1

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.
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.3 human [O00754-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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.
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

3D structure databases

ProteinModelPortaliO00754
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110298, 17 interactors
IntActiO00754, 2 interactors
MINTiO00754
STRINGi9606.ENSP00000395473

Chemistry databases

BindingDBiO00754
ChEMBLiCHEMBL4059

Protein family/group databases

CAZyiGH38 Glycoside Hydrolase Family 38

PTM databases

GlyConnecti775
iPTMnetiO00754
PhosphoSitePlusiO00754
UniCarbKBiO00754

Polymorphism and mutation databases

BioMutaiMAN2B1

Proteomic databases

EPDiO00754
MaxQBiO00754
PaxDbiO00754
PeptideAtlasiO00754
PRIDEiO00754
ProteomicsDBi48018

Protocols and materials databases

DNASUi4125
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000221363; ENSP00000221363; ENSG00000104774 [O00754-2]
ENST00000456935; ENSP00000395473; ENSG00000104774 [O00754-1]
GeneIDi4125
KEGGihsa:4125
UCSCiuc002mub.3 human [O00754-1]

Organism-specific databases

CTDi4125
DisGeNETi4125
EuPathDBiHostDB:ENSG00000104774.12
GeneCardsiMAN2B1
GeneReviewsiMAN2B1
HGNCiHGNC:6826 MAN2B1
HPAiHPA041530
HPA053404
MalaCardsiMAN2B1
MIMi248500 phenotype
609458 gene
neXtProtiNX_O00754
OpenTargetsiENSG00000104774
Orphaneti309288 Alpha-mannosidosis, adult form
309282 Alpha-mannosidosis, infantile form
PharmGKBiPA30575
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1959 Eukaryota
ENOG410XQMZ LUCA
GeneTreeiENSGT00510000046304
HOGENOMiHOG000007676
HOVERGENiHBG052391
InParanoidiO00754
KOiK12311
OMAiMWYKNLD
OrthoDBiEOG091G02IS
PhylomeDBiO00754
TreeFamiTF313840

Enzyme and pathway databases

BRENDAi3.2.1.24 2681
ReactomeiR-HSA-6798695 Neutrophil degranulation
R-HSA-8853383 Lysosomal oligosaccharide catabolism

Miscellaneous databases

ChiTaRSiMAN2B1 human
GenomeRNAii4125
PROiPR:O00754
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104774 Expressed in 95 organ(s), highest expression level in leukocyte
CleanExiHS_MAN2B1
ExpressionAtlasiO00754 baseline and differential
GenevisibleiO00754 HS

Family and domain databases

Gene3Di1.20.1270.50, 2 hits
2.60.40.1180, 1 hit
3.20.110.10, 1 hit
InterProiView protein in InterPro
IPR011013 Gal_mutarotase_sf_dom
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
PfamiView protein in Pfam
PF09261 Alpha-mann_mid, 1 hit
PF01074 Glyco_hydro_38, 1 hit
PF07748 Glyco_hydro_38C, 1 hit
SMARTiView protein in SMART
SM00872 Alpha-mann_mid, 1 hit
SUPFAMiSSF74650 SSF74650, 1 hit
SSF88688 SSF88688, 1 hit
SSF88713 SSF88713, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMA2B1_HUMAN
AccessioniPrimary (citable) accession number: O00754
Secondary accession number(s): G5E928
, O15330, Q16680, Q93094, Q9BW13
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: October 31, 2006
Last modified: September 12, 2018
This is version 192 of the entry and version 3 of the sequence. See 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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