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O00754

- MA2B1_HUMAN

UniProt

O00754 - MA2B1_HUMAN

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Protein

Lysosomal alpha-mannosidase

Gene

MAN2B1

Organism
Homo sapiens (Human)
Status
Reviewed - 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

Binds 1 zinc ion per subunit.By similarity

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi72 – 721ZincBy similarity
Metal bindingi74 – 741ZincBy similarity
Active sitei196 – 1961NucleophileBy similarity
Metal bindingi196 – 1961ZincBy similarity
Metal bindingi446 – 4461ZincBy similarity

GO - Molecular functioni

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

GO - Biological processi

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

Keywords - Molecular functioni

Glycosidase, Hydrolase

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

BRENDAi3.2.1.24. 2681.

Protein family/group databases

CAZyiGH38. Glycoside Hydrolase Family 38.

Names & Taxonomyi

Protein namesi
Recommended name:
Lysosomal alpha-mannosidase (EC:3.2.1.24)
Short name:
Laman
Alternative name(s):
Lysosomal acid alpha-mannosidase
Mannosidase alpha class 2B member 1
Mannosidase alpha-B
Cleaved into the following 5 chains:
Gene namesi
Name:MAN2B1
Synonyms:LAMAN, MANB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:6826. MAN2B1.

Subcellular locationi

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProtKB
  2. lysosome Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

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

Keywords - Diseasei

Disease mutation

Organism-specific databases

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

PTM / Processingi

Molecule processing

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

Amino acid modifications

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

Post-translational modificationi

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

Keywords - PTMi

Disulfide bond, Glycoprotein, Zymogen

Proteomic databases

MaxQBiO00754.
PaxDbiO00754.
PRIDEiO00754.

PTM databases

PhosphoSiteiO00754.

Expressioni

Gene expression databases

BgeeiO00754.
CleanExiHS_MAN2B1.
ExpressionAtlasiO00754. baseline and differential.
GenevestigatoriO00754.

Organism-specific databases

HPAiHPA041530.

Interactioni

Protein-protein interaction databases

BioGridi110298. 8 interactions.
IntActiO00754. 1 interaction.
MINTiMINT-253662.
STRINGi9606.ENSP00000395473.

Structurei

3D structure databases

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

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyl hydrolase 38 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG306356.
GeneTreeiENSGT00510000046304.
HOGENOMiHOG000007676.
HOVERGENiHBG052391.
InParanoidiO00754.
KOiK12311.
OMAiNMQLTVL.
OrthoDBiEOG786H2P.
PhylomeDBiO00754.
TreeFamiTF313840.

Family and domain databases

Gene3Di1.20.1270.50. 1 hit.
2.60.40.1180. 1 hit.
3.20.110.10. 1 hit.
InterProiIPR011013. Gal_mutarotase_SF_dom.
IPR011330. Glyco_hydro/deAcase_b/a-brl.
IPR013780. Glyco_hydro_13_b.
IPR027291. Glyco_hydro_38/57_N.
IPR011682. Glyco_hydro_38_C.
IPR015341. Glyco_hydro_38_cen.
IPR000602. Glyco_hydro_38_N.
IPR028995. Glyco_hydro_57/38_cen.
[Graphical view]
PfamiPF09261. Alpha-mann_mid. 1 hit.
PF01074. Glyco_hydro_38. 1 hit.
PF07748. Glyco_hydro_38C. 1 hit.
[Graphical view]
SMARTiSM00872. Alpha-mann_mid. 1 hit.
[Graphical view]
SUPFAMiSSF74650. SSF74650. 1 hit.
SSF88688. SSF88688. 1 hit.
SSF88713. SSF88713. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. Align

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

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

« Hide

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

Experimental Info

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

Natural variant

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

Alternative sequence

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

Sequence databases

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

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

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

Leiden Open Variation Database (LOVD)

Sequence databases

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

3D structure databases

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

Protein-protein interaction databases

BioGridi 110298. 8 interactions.
IntActi O00754. 1 interaction.
MINTi MINT-253662.
STRINGi 9606.ENSP00000395473.

Chemistry

BindingDBi O00754.
ChEMBLi CHEMBL4059.

Protein family/group databases

CAZyi GH38. Glycoside Hydrolase Family 38.

PTM databases

PhosphoSitei O00754.

Proteomic databases

MaxQBi O00754.
PaxDbi O00754.
PRIDEi O00754.

Protocols and materials databases

DNASUi 4125.
Structural Biology Knowledgebase Search...

Genome annotation databases

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

Organism-specific databases

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

Phylogenomic databases

eggNOGi NOG306356.
GeneTreei ENSGT00510000046304.
HOGENOMi HOG000007676.
HOVERGENi HBG052391.
InParanoidi O00754.
KOi K12311.
OMAi NMQLTVL.
OrthoDBi EOG786H2P.
PhylomeDBi O00754.
TreeFami TF313840.

Enzyme and pathway databases

BRENDAi 3.2.1.24. 2681.

Miscellaneous databases

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

Gene expression databases

Bgeei O00754.
CleanExi HS_MAN2B1.
ExpressionAtlasi O00754. baseline and differential.
Genevestigatori O00754.

Family and domain databases

Gene3Di 1.20.1270.50. 1 hit.
2.60.40.1180. 1 hit.
3.20.110.10. 1 hit.
InterProi IPR011013. Gal_mutarotase_SF_dom.
IPR011330. Glyco_hydro/deAcase_b/a-brl.
IPR013780. Glyco_hydro_13_b.
IPR027291. Glyco_hydro_38/57_N.
IPR011682. Glyco_hydro_38_C.
IPR015341. Glyco_hydro_38_cen.
IPR000602. Glyco_hydro_38_N.
IPR028995. Glyco_hydro_57/38_cen.
[Graphical view ]
Pfami PF09261. Alpha-mann_mid. 1 hit.
PF01074. Glyco_hydro_38. 1 hit.
PF07748. Glyco_hydro_38C. 1 hit.
[Graphical view ]
SMARTi SM00872. Alpha-mann_mid. 1 hit.
[Graphical view ]
SUPFAMi SSF74650. SSF74650. 1 hit.
SSF88688. SSF88688. 1 hit.
SSF88713. SSF88713. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Human lysosomal alpha-mannosidase: isolation and nucleotide sequence of the full-length cDNA."
    Nebes V.L., Schmidt M.C.
    Biochem. Biophys. Res. Commun. 200:239-245(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Alpha-mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings."
    Nilssen O., Berg T., Riise H.M.F., Ramachandran U., Evjen G., Hansen G.M., Malm D., Tranebjaerg L., Tollersrud O.-K.
    Hum. Mol. Genet. 6:717-726(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PARTIAL PROTEIN SEQUENCE, VARIANT MANSA LEU-72.
    Tissue: Lung and Skin.
  3. "Genomic structure of the human lysosomal alpha-mannosidase gene (MANB)."
    Riise H.M.F., Berg T., Nilssen O., Romeo G., Tollersrud O.-K., Ceccherini I.
    Genomics 42:200-207(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
  4. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Placenta.
  7. "Cloning, expression, purification, and characterization of the human broad specificity lysosomal acid alpha-mannosidase."
    Liao Y.-F., Lal A., Moremen K.W.
    J. Biol. Chem. 271:28348-28358(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 9-1010 (ISOFORM 1).
    Tissue: Spleen.
  8. "Partial sequence of the purified protein confirms the identity of cDNA coding for human lysosomal alpha-mannosidase B."
    Emiliani C., Martino S., Stirling J.L., Maras B., Orlacchio A.
    Biochem. J. 305:363-366(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: PARTIAL PROTEIN SEQUENCE.
  9. "Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry."
    Zhang H., Li X.-J., Martin D.B., Aebersold R.
    Nat. Biotechnol. 21:660-666(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION AT ASN-930.
  10. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
    Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
    J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-367 AND ASN-766.
    Tissue: Liver.
  11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. "Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis."
    Gotoda Y., Wakamatsu N., Kawai H., Nishida Y., Matsumoto T.
    Am. J. Hum. Genet. 63:1015-1024(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MANSA LEU-72; ARG-356 AND TRP-750.
  13. Cited for: VARIANTS MANSA PRO-355; LYS-402; ARG-714 AND PRO-809, VARIANTS VAL-278; ILE-312; GLN-337 AND SER-413.
  14. "Alpha-mannosidosis and mutational analysis in a Turkish patient."
    Oelmez A., Nilssen O., Coskun T., Klenow H.
    Turk. J. Pediatr. 45:46-50(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MANSA TYR-453.
  15. "Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis."
    Sbaragli M., Bibi L., Pittis M.G., Balducci C., Heikinheimo P., Ricci R., Antuzzi D., Parini R., Spaccini L., Bembi B., Beccari T.
    Hum. Mutat. 25:320-320(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MANSA LEU-200 AND ASP-801, CHARACTERIZATION OF VARIANTS MANSA LEU-200 AND ASP-801.
  16. "Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations."
    Riise Stensland H.M., Klenow H.B., Van Nguyen L., Hansen G.M., Malm D., Nilssen O.
    Hum. Mutat. 33:511-520(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MANSA PHE-55; GLU-74; PRO-95; HIS-99; ASN-159; ARG-197; ASN-200; LEU-200; PRO-202; TRP-229; LEU-263; LEU-318; 339-VAL--GLN-342 DEL; PRO-352; LEU-379; CYS-390; LYS-402; VAL-420; TYR-445; CYS-451; TYR-453; PHE-453; GLU-457; SER-501; PRO-565; ARG-745; ARG-800; TRP-800; HIS-ARG-815 INS; ARG-891; PRO-892; CYS-916; HIS-916; PRO-950; ARG-956 AND SER-1000, VARIANTS LEU-248; VAL-278; SER-282; ILE-312; GLN-337; SER-413; SER-481 AND LEU-669, CHARACTERIZATION OF VARIANTS MANSA PHE-55; GLU-74; PRO-95; HIS-99; ASN-159; ARG-197; ASN-200; LEU-200; PRO-202; TRP-229; LEU-263; LEU-318; PRO-352; LEU-379; CYS-390; LYS-402; VAL-420; TYR-445; CYS-451; TYR-453; PHE-453; GLU-457; SER-501; PRO-565; ARG-745; ARG-800; TRP-800; HIS-ARG-815 INS; ARG-891; PRO-892; CYS-916; HIS-916; PRO-950; ARG-956 AND SER-1000.

Entry informationi

Entry nameiMA2B1_HUMAN
AccessioniPrimary (citable) accession number: O00754
Secondary accession number(s): G5E928
, O15330, Q16680, Q93094, Q9BW13
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: October 31, 2006
Last modified: October 29, 2014
This is version 151 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  2. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3