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Q8VHC8

- MA2B1_CAVPO

UniProt

Q8VHC8 - MA2B1_CAVPO

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Protein

Lysosomal alpha-mannosidase

Gene

MAN2B1

Organism
Cavia porcellus (Guinea pig)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover.By similarity

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)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi70 – 701ZincBy similarity
Metal bindingi72 – 721ZincBy similarity
Active sitei194 – 1941NucleophileBy similarity
Metal bindingi194 – 1941ZincBy similarity
Metal bindingi444 – 4441ZincBy similarity

GO - Molecular functioni

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

GO - Biological processi

  1. mannose metabolic process Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Glycosidase, Hydrolase

Keywords - Ligandi

Metal-binding, Zinc

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
Gene namesi
Name:MAN2B1
Synonyms:MANB
OrganismiCavia porcellus (Guinea pig)
Taxonomic identifieri10141 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaHystricognathiCaviidaeCavia
ProteomesiUP000005447: Unplaced

Subcellular locationi

GO - Cellular componenti

  1. lysosome Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

Defects in MAN2B1 are the cause of lysosomal alpha-mannosidosis (AM). AM is a lysosomal storage disease characterized by accumulation of unbranched oligosaccharide chains.

Keywords - Diseasei

Disease mutation

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 4747Sequence AnalysisAdd
BLAST
Chaini48 – 1007960Lysosomal alpha-mannosidasePRO_0000012067Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi53 ↔ 356By similarity
Glycosylationi131 – 1311N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi266 ↔ 271By similarity
Glycosylationi308 – 3081N-linked (GlcNAc...)Sequence Analysis
Glycosylationi343 – 3431N-linked (GlcNAc...)Sequence Analysis
Glycosylationi365 – 3651N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi410 ↔ 470By similarity
Disulfide bondi491 ↔ 499By similarity
Glycosylationi495 – 4951N-linked (GlcNAc...)Sequence Analysis
Glycosylationi540 – 5401N-linked (GlcNAc...)Sequence Analysis
Glycosylationi639 – 6391N-linked (GlcNAc...)Sequence Analysis
Glycosylationi686 – 6861N-linked (GlcNAc...)Sequence Analysis
Glycosylationi760 – 7601N-linked (GlcNAc...)Sequence Analysis
Glycosylationi927 – 9271N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Structurei

3D structure databases

ProteinModelPortaliQ8VHC8.
SMRiQ8VHC8. Positions 49-338, 346-419, 429-577, 599-868, 882-1003.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyl hydrolase 38 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiCOG0383.
GeneTreeiENSGT00510000046304.
HOGENOMiHOG000007676.
HOVERGENiHBG052391.
InParanoidiQ8VHC8.
OrthoDBiEOG786H2P.

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.

Sequencei

Sequence statusi: Complete.

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

Q8VHC8-1 [UniParc]FASTAAdd to Basket

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        10         20         30         40         50
MGASVLPLGL GAGDCQSSSG RRMSACLPRT ALSFLLSLLL ATPGARAAGY
60 70 80 90 100
ETCPMVQPGM LNVHLVAHTH DDVGWLKTVD QYYWGIHNDL QQAGVQYILD
110 120 130 140 150
SVISALLAEP TRRFVYVEMA FFSRWWHQQT NETQEVVRRL VRQGRLEFAN
160 170 180 190 200
GGWVMNDEAA THYGAIVDQM TLGLRFLEDT FGSDGRPRVA WHIDPFGHSR
210 220 230 240 250
EQASLFAQMG FDGVFFGRID YQDKLVRKKR REMELVWRAS ASLKAPAADL
260 270 280 290 300
FTGVLPNNYG PPEGLCWDVL CADPPVVDDP RSPEYNAKKL VSYFLQLATA
310 320 330 340 350
QGRYYRTNHT VMTMGSDFQY ENANTWFKNL DKLIQLVNMQ QANGSRVHVL
360 370 380 390 400
YSTPACYLWE LNKANLTWPV KEDDFFPYAD GPHMFWTGYF SSRPALKRYE
410 420 430 440 450
RLSYNFLQVC NQLEAQVGPA ANVGPYGHGD SSPLNQAMAV LQHHDAVSGT
460 470 480 490 500
SKQHVADDYA RQLAAGWGPC EVLLSNALAK LSGSKETFLF CRDLNISICP
510 520 530 540 550
FSQTSERFQV LVYNPLGRKV DRMVRLPVRK GLFLIKDPGN NTVPSTVVEL
560 570 580 590 600
TSSGNPELLF PALVPALGFS VYSVTRVSDQ NPQTRSQHSR PQKYSSPVLS
610 620 630 640 650
IKNEYLRASF HPDTGLLSMI EVLDRKLTLP VNQAFFWYNA SVGDKRSSQA
660 670 680 690 700
SGAYIFRPSQ QWPFPVSHLA RTRLVKTALV QEVHQNFTAW CSQVVRLYSG
710 720 730 740 750
QRHLELEWTV GPIPVGDKWG KEIISRFDTP LETGGVFFTD SNGREVLERR
760 770 780 790 800
RDYRPSWKLN QTEPVAGNYY PVNSRIYITD GKMQLTVLTD RSQGGSSMSD
810 820 830 840 850
GSLELMVHRR LLKDDGRGVG EALQEPGSGG WVRGRHLLLL DTAREAAAEH
860 870 880 890 900
RLLAEKELLA PQLVLAPGQG PSYHHDHHEA VPRKQFSGLR RQLPPSVRLL
910 920 930 940 950
TLARWGPDTL LLRLEHQFAL GEDSSRNLSL PVTLDLQDLF STFTITRLQE
960 970 980 990 1000
TTLAANQLRA SASRLKWTTE IDPISRPAVP RLDPSSITLQ PMEIRTFVAS

VQWEENS
Length:1,007
Mass (Da):113,184
Last modified:March 1, 2002 - v1
Checksum:iC128EB9948A44D41
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti55 – 551M → I.1 Publication
Natural varianti227 – 2271R → W in AM. 1 Publication

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY036153 mRNA. Translation: AAL58982.1.
AY036154 mRNA. Translation: AAL58983.1.
AY036155 mRNA. Translation: AAL58984.1.
RefSeqiNP_001244175.1. NM_001257246.1.

Genome annotation databases

EnsembliENSCPOT00000024185; ENSCPOP00000017509; ENSCPOG00000002295.
GeneIDi100718205.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY036153 mRNA. Translation: AAL58982.1 .
AY036154 mRNA. Translation: AAL58983.1 .
AY036155 mRNA. Translation: AAL58984.1 .
RefSeqi NP_001244175.1. NM_001257246.1.

3D structure databases

ProteinModelPortali Q8VHC8.
SMRi Q8VHC8. Positions 49-338, 346-419, 429-577, 599-868, 882-1003.
ModBasei Search...
MobiDBi Search...

Protein family/group databases

CAZyi GH38. Glycoside Hydrolase Family 38.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSCPOT00000024185 ; ENSCPOP00000017509 ; ENSCPOG00000002295 .
GeneIDi 100718205.

Organism-specific databases

CTDi 4125.

Phylogenomic databases

eggNOGi COG0383.
GeneTreei ENSGT00510000046304.
HOGENOMi HOG000007676.
HOVERGENi HBG052391.
InParanoidi Q8VHC8.
OrthoDBi EOG786H2P.

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

  1. "Alpha-mannosidosis in the guinea pig: cloning of the lysosomal alpha-mannosidase cDNA and identification of a missense mutation causing alpha-mannosidosis."
    Berg T., Hopwood J.J.
    Biochim. Biophys. Acta 1586:169-176(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT AM TRP-227, VARIANT ILE-55.

Entry informationi

Entry nameiMA2B1_CAVPO
AccessioniPrimary (citable) accession number: Q8VHC8
Secondary accession number(s): Q8VHC6, Q8VHC7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: March 1, 2002
Last modified: November 26, 2014
This is version 70 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3