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Protein

Lysosomal alpha-mannosidase

Gene

MAN2B1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Biological processi

  • cellular protein modification process Source: UniProtKB
  • learning or memory Source: Ensembl
  • mannose metabolic process Source: GO_Central
  • oligosaccharide catabolic process Source: Reactome
  • protein deglycosylation Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Glycosidase, Hydrolase

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:HS02616-MONOMER.
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:
Gene namesi
Name:MAN2B1
Synonyms:LAMAN, MANB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:6826. MAN2B1.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • extracellular space Source: UniProtKB
  • lysosomal lumen Source: Reactome
Complete GO annotation...

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 Publication1
Natural variantiVAR_00333872H → L in MANSA; type II. 2 PublicationsCorresponds to variant rs387906261dbSNPEnsembl.1
Natural variantiVAR_06803574D → E in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant rs746702002dbSNPEnsembl.1
Natural variantiVAR_06803695A → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication1
Natural variantiVAR_06803799Y → H in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant rs794727484dbSNPEnsembl.1
Natural variantiVAR_068038159D → N in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication1
Natural variantiVAR_068039197P → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication1
Natural variantiVAR_026412200H → L in MANSA; no residual enzyme activity. 2 Publications1
Natural variantiVAR_068040200H → N in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant rs772108001dbSNPEnsembl.1
Natural variantiVAR_068041202R → P in MANSA; reduced enzyme activity. 1 Publication1
Natural variantiVAR_068042229R → W in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant rs763257568dbSNPEnsembl.1
Natural variantiVAR_068044263P → L in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication1
Natural variantiVAR_068046318S → L in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant rs774034389dbSNPEnsembl.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 Publication1
Natural variantiVAR_003342355T → P in MANSA. 1 Publication1
Natural variantiVAR_003343356P → R in MANSA; type I. 1 PublicationCorresponds to variant rs121434333dbSNPEnsembl.1
Natural variantiVAR_068049379P → L in MANSA; reduced enzyme activity. 1 Publication1
Natural variantiVAR_068050390G → C in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication1
Natural variantiVAR_003344402E → K in MANSA; unknown pathological significance. 2 PublicationsCorresponds to variant rs370760999dbSNPEnsembl.1
Natural variantiVAR_068051420G → V in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant rs772853856dbSNPEnsembl.1
Natural variantiVAR_068052445H → Y in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication1
Natural variantiVAR_068053451G → C in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant rs368899357dbSNPEnsembl.1
Natural variantiVAR_068054453S → F in MANSA; reduced enzyme activity. 1 Publication1
Natural variantiVAR_026413453S → Y in MANSA. 2 Publications1
Natural variantiVAR_068055457V → E in MANSA; reduced enzyme activity. 1 Publication1
Natural variantiVAR_068056501C → S in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant rs747721968dbSNPEnsembl.1
Natural variantiVAR_068057565L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication1
Natural variantiVAR_003346714W → R in MANSA. 1 Publication1
Natural variantiVAR_068059745T → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication1
Natural variantiVAR_003347750R → W in MANSA; type II. 1 PublicationCorresponds to variant rs80338680dbSNPEnsembl.1
Natural variantiVAR_068060800G → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant rs398123456dbSNPEnsembl.1
Natural variantiVAR_068061800G → W in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant rs398123456dbSNPEnsembl.1
Natural variantiVAR_026414801G → D in MANSA; no residual enzyme activity. 1 Publication1
Natural variantiVAR_003348809L → P in MANSA. 1 PublicationCorresponds to variant rs80338681dbSNPEnsembl.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 Publication1
Natural variantiVAR_068064892L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication1
Natural variantiVAR_068065916R → C in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication1
Natural variantiVAR_068066916R → H in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant rs758765126dbSNPEnsembl.1
Natural variantiVAR_068067950R → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication1
Natural variantiVAR_068068956L → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant rs768233248dbSNPEnsembl.1
Natural variantiVAR_0680691000F → S in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi4125.
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...)Sequence analysis1
Disulfide bondi268 ↔ 273By similarity
Glycosylationi310N-linked (GlcNAc...)Sequence analysis1
Glycosylationi367N-linked (GlcNAc...)1 Publication1
Disulfide bondi412 ↔ 472By similarity
Disulfide bondi493 ↔ 501By similarity
Glycosylationi497N-linked (GlcNAc...)Sequence analysis1
Glycosylationi645N-linked (GlcNAc...)Sequence analysis1
Glycosylationi651N-linked (GlcNAc...)Sequence analysis1
Glycosylationi692N-linked (GlcNAc...)Sequence analysis1
Glycosylationi766N-linked (GlcNAc...)1 Publication1
Glycosylationi832N-linked (GlcNAc...)Sequence analysis1
Glycosylationi930N-linked (GlcNAc...)1 Publication1
Glycosylationi989N-linked (GlcNAc...)Sequence 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.

PTM databases

iPTMnetiO00754.
PhosphoSitePlusiO00754.
UniCarbKBiO00754.

Expressioni

Gene expression databases

BgeeiENSG00000104774.
CleanExiHS_MAN2B1.
ExpressionAtlasiO00754. baseline and differential.
GenevisibleiO00754. HS.

Organism-specific databases

HPAiHPA041530.
HPA053404.

Interactioni

Protein-protein interaction databases

BioGridi110298. 16 interactors.
IntActiO00754. 1 interactor.
MINTiMINT-253662.
STRINGi9606.ENSP00000395473.

Chemistry databases

BindingDBiO00754.

Structurei

3D structure databases

ProteinModelPortaliO00754.
SMRiO00754.
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.
OMAiPPADEKI.
OrthoDBiEOG091G02IS.
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.
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.
IPR013780. Glyco_hydro_b.
[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. AlignAdd to basket

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

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 Publication1
Natural variantiVAR_00333872H → L in MANSA; type II. 2 PublicationsCorresponds to variant rs387906261dbSNPEnsembl.1
Natural variantiVAR_06803574D → E in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant rs746702002dbSNPEnsembl.1
Natural variantiVAR_06803695A → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication1
Natural variantiVAR_06803799Y → H in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant rs794727484dbSNPEnsembl.1
Natural variantiVAR_068038159D → N in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication1
Natural variantiVAR_068039197P → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication1
Natural variantiVAR_026412200H → L in MANSA; no residual enzyme activity. 2 Publications1
Natural variantiVAR_068040200H → N in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant rs772108001dbSNPEnsembl.1
Natural variantiVAR_068041202R → P in MANSA; reduced enzyme activity. 1 Publication1
Natural variantiVAR_068042229R → W in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant rs763257568dbSNPEnsembl.1
Natural variantiVAR_068043248P → L.1 PublicationCorresponds to variant rs117843968dbSNPEnsembl.1
Natural variantiVAR_049209250A → S.Corresponds to variant rs3745650dbSNPEnsembl.1
Natural variantiVAR_068044263P → L in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication1
Natural variantiVAR_003339278L → V.2 PublicationsCorresponds to variant rs1054486dbSNPEnsembl.1
Natural variantiVAR_068045282P → S.1 PublicationCorresponds to variant rs45576136dbSNPEnsembl.1
Natural variantiVAR_003340312T → I.2 PublicationsCorresponds to variant rs1054487dbSNPEnsembl.1
Natural variantiVAR_068046318S → L in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant rs774034389dbSNPEnsembl.1
Natural variantiVAR_003341337R → Q.2 PublicationsCorresponds to variant rs1133330dbSNPEnsembl.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 Publication1
Natural variantiVAR_003342355T → P in MANSA. 1 Publication1
Natural variantiVAR_003343356P → R in MANSA; type I. 1 PublicationCorresponds to variant rs121434333dbSNPEnsembl.1
Natural variantiVAR_068049379P → L in MANSA; reduced enzyme activity. 1 Publication1
Natural variantiVAR_068050390G → C in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication1
Natural variantiVAR_003344402E → K in MANSA; unknown pathological significance. 2 PublicationsCorresponds to variant rs370760999dbSNPEnsembl.1
Natural variantiVAR_003345413N → S.2 PublicationsCorresponds to variant rs35836657dbSNPEnsembl.1
Natural variantiVAR_068051420G → V in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant rs772853856dbSNPEnsembl.1
Natural variantiVAR_068052445H → Y in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication1
Natural variantiVAR_068053451G → C in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant rs368899357dbSNPEnsembl.1
Natural variantiVAR_068054453S → F in MANSA; reduced enzyme activity. 1 Publication1
Natural variantiVAR_026413453S → Y in MANSA. 2 Publications1
Natural variantiVAR_068055457V → E in MANSA; reduced enzyme activity. 1 Publication1
Natural variantiVAR_049210481A → S.1 PublicationCorresponds to variant rs34544747dbSNPEnsembl.1
Natural variantiVAR_068056501C → S in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant rs747721968dbSNPEnsembl.1
Natural variantiVAR_068057565L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication1
Natural variantiVAR_068058669P → L.1 PublicationCorresponds to variant rs75029862dbSNPEnsembl.1
Natural variantiVAR_003346714W → R in MANSA. 1 Publication1
Natural variantiVAR_068059745T → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication1
Natural variantiVAR_003347750R → W in MANSA; type II. 1 PublicationCorresponds to variant rs80338680dbSNPEnsembl.1
Natural variantiVAR_068060800G → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant rs398123456dbSNPEnsembl.1
Natural variantiVAR_068061800G → W in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant rs398123456dbSNPEnsembl.1
Natural variantiVAR_026414801G → D in MANSA; no residual enzyme activity. 1 Publication1
Natural variantiVAR_003348809L → P in MANSA. 1 PublicationCorresponds to variant rs80338681dbSNPEnsembl.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 Publication1
Natural variantiVAR_068064892L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication1
Natural variantiVAR_068065916R → C in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication1
Natural variantiVAR_068066916R → H in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant rs758765126dbSNPEnsembl.1
Natural variantiVAR_068067950R → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication1
Natural variantiVAR_068068956L → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant rs768233248dbSNPEnsembl.1
Natural variantiVAR_0680691000F → S in MANSA; results in less than 20% of wild-type enzyme activity. 1 Publication1

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

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.
SMRiO00754.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110298. 16 interactors.
IntActiO00754. 1 interactor.
MINTiMINT-253662.
STRINGi9606.ENSP00000395473.

Chemistry databases

BindingDBiO00754.
ChEMBLiCHEMBL4059.

Protein family/group databases

CAZyiGH38. Glycoside Hydrolase Family 38.

PTM databases

iPTMnetiO00754.
PhosphoSitePlusiO00754.
UniCarbKBiO00754.

Polymorphism and mutation databases

BioMutaiMAN2B1.

Proteomic databases

EPDiO00754.
MaxQBiO00754.
PaxDbiO00754.
PeptideAtlasiO00754.
PRIDEiO00754.

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.
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.
OMAiPPADEKI.
OrthoDBiEOG091G02IS.
PhylomeDBiO00754.
TreeFamiTF313840.

Enzyme and pathway databases

BioCyciZFISH:HS02616-MONOMER.
BRENDAi3.2.1.24. 2681.
ReactomeiR-HSA-6798695. Neutrophil degranulation.
R-HSA-8853383. Lysosomal oligosaccharide catabolism.

Miscellaneous databases

ChiTaRSiMAN2B1. human.
GenomeRNAii4125.
PROiO00754.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104774.
CleanExiHS_MAN2B1.
ExpressionAtlasiO00754. baseline and differential.
GenevisibleiO00754. HS.

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.
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.
IPR013780. Glyco_hydro_b.
[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.
ProtoNetiSearch...

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: November 30, 2016
This is version 173 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.