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UniProtKB - O00462 (MANBA_HUMAN)

Protein

Beta-mannosidase

Gene

MANBA

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

Functioni

Exoglycosidase that cleaves the single beta-linked mannose residue from the non-reducing end of all N-linked glycoprotein oligosaccharides.

Catalytic activityi

Hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D-mannosides.

Pathwayi: N-glycan degradation

This protein is involved in the pathway N-glycan degradation, which is part of Glycan metabolism.
View all proteins of this organism that are known to be involved in the pathway N-glycan degradation and in Glycan metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei457Proton donorBy similarity1

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionGlycosidase, Hydrolase

Enzyme and pathway databases

ReactomeiR-HSA-6798695 Neutrophil degranulation
R-HSA-8853383 Lysosomal oligosaccharide catabolism
UniPathwayi
UPA00280

Protein family/group databases

CAZyiGH2 Glycoside Hydrolase Family 2

Names & Taxonomyi

Protein namesi
Recommended name:
Beta-mannosidase (EC:3.2.1.25)
Alternative name(s):
Lysosomal beta A mannosidase
Mannanase
Short name:
Mannase
Gene namesi
Name:MANBA
Synonyms:MANB1
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 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000109323.8
HGNCiHGNC:6831 MANBA
MIMi609489 gene
neXtProtiNX_O00462

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, beta A, lysosomal (MANSB)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive lysosomal storage disease of glycoprotein catabolism. Clinical features are heterogeneous with a wide range of symptoms and age of onset. The disease is associated with a range of neurological involvement, including various degrees of mental retardation in most of the cases, hearing loss and speech impairment, hypotonia, epilepsy and peripheral neuropathy. Affected individuals have a profound reduction in beta A mannosidase activity in plasma, fibroblasts and leukocytes.
See also OMIM:248510

Organism-specific databases

DisGeNETi4126
MalaCardsiMANBA
MIMi248510 phenotype
OpenTargetsiENSG00000109323
Orphaneti118 Beta-mannosidosis
PharmGKBiPA30577

Chemistry databases

ChEMBLiCHEMBL3903

Polymorphism and mutation databases

BioMutaiMANBA

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 17Sequence analysisAdd BLAST17
ChainiPRO_000001216618 – 879Beta-mannosidaseAdd BLAST862

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi28N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi35N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi77N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi280N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi284N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi297N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi302N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi763N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiO00462
MaxQBiO00462
PaxDbiO00462
PeptideAtlasiO00462
PRIDEiO00462
ProteomicsDBi47912

PTM databases

GlyConnecti1041
iPTMnetiO00462
PhosphoSitePlusiO00462

Expressioni

Gene expression databases

BgeeiENSG00000109323 Expressed in 208 organ(s), highest expression level in leukocyte
CleanExiHS_MANBA
ExpressionAtlasiO00462 baseline and differential
GenevisibleiO00462 HS

Organism-specific databases

HPAiHPA053478

Interactioni

Protein-protein interaction databases

BioGridi110299, 32 interactors
STRINGi9606.ENSP00000226578

Chemistry databases

BindingDBiO00462

Structurei

3D structure databases

ProteinModelPortaliO00462
SMRiO00462
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyl hydrolase 2 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG2230 Eukaryota
COG3250 LUCA
GeneTreeiENSGT00390000001670
HOGENOMiHOG000186862
HOVERGENiHBG052404
InParanoidiO00462
KOiK01192
OMAiGFLMTEK
OrthoDBiEOG091G02FY
PhylomeDBiO00462
TreeFamiTF105723

Family and domain databases

Gene3Di2.60.120.260, 1 hit
2.60.40.10, 2 hits
InterProiView protein in InterPro
IPR036156 Beta-gal/glucu_dom_sf
IPR008979 Galactose-bd-like_sf
IPR006103 Glyco_hydro_2_cat
IPR017853 Glycoside_hydrolase_SF
IPR013783 Ig-like_fold
PfamiView protein in Pfam
PF02836 Glyco_hydro_2_C, 1 hit
SUPFAMiSSF49303 SSF49303, 3 hits
SSF49785 SSF49785, 1 hit
SSF51445 SSF51445, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 12 potential isoforms that are computationally mapped.Show allAlign All

O00462-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRLHLLLLLA LCGAGTTAAE LSYSLRGNWS ICNGNGSLEL PGAVPGCVHS 
        60         70         80         90        100
ALFQQGLIQD SYYRFNDLNY RWVSLDNWTY SKEFKIPFEI SKWQKVNLIL 
       110        120        130        140        150
EGVDTVSKIL FNEVTIGETD NMFNRYSFDI TNVVRDVNSI ELRFQSAVLY 
       160        170        180        190        200
AAQQSKAHTR YQVPPDCPPL VQKGECHVNF VRKEQCSFSW DWGPSFPTQG 
       210        220        230        240        250
IWKDVRIEAY NICHLNYFTF SPIYDKSAQE WNLEIESTFD VVSSKPVGGQ 
       260        270        280        290        300
VIVAIPKLQT QQTYSIELQP GKRIVELFVN ISKNITVETW WPHGHGNQTG 
       310        320        330        340        350
YNMTVLFELD GGLNIEKSAK VYFRTVELIE EPIKGSPGLS FYFKINGFPI 
       360        370        380        390        400
FLKGSNWIPA DSFQDRVTSE LLRLLLQSVV DANMNTLRVW GGGIYEQDEF 
       410        420        430        440        450
YELCDELGIM VWQDFMFACA LYPTDQGFLD SVTAEVAYQI KRLKSHPSII 
       460        470        480        490        500
IWSGNNENEE ALMMNWYHIS FTDRPIYIKD YVTLYVKNIR ELVLAGDKSR 
       510        520        530        540        550
PFITSSPTNG AETVAEAWVS QNPNSNYFGD VHFYDYISDC WNWKVFPKAR 
       560        570        580        590        600
FASEYGYQSW PSFSTLEKVS STEDWSFNSK FSLHRQHHEG GNKQMLYQAG 
       610        620        630        640        650
LHFKLPQSTD PLRTFKDTIY LTQVMQAQCV KTETEFYRRS RSEIVDQQGH 
       660        670        680        690        700
TMGALYWQLN DIWQAPSWAS LEYGGKWKML HYFAQNFFAP LLPVGFENEN 
       710        720        730        740        750
TFYIYGVSDL HSDYSMTLSV RVHTWSSLEP VCSRVTERFV MKGGEAVCLY 
       760        770        780        790        800
EEPVSELLRR CGNCTRESCV VSFYLSADHE LLSPTNYHFL SSPKEAVGLC 
       810        820        830        840        850
KAQITAIISQ QGDIFVFDLE TSAVAPFVWL DVGSIPGRFS DNGFLMTEKT 
       860        870 
RTILFYPWEP TSKNELEQSF HVTSLTDIY
Length:879
Mass (Da):100,895
Last modified:August 16, 2004 - v3
Checksum:iFE8173A4276B722E
GO

Computationally mapped potential isoform sequencesi

There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PFW2E9PFW2_HUMAN
Beta-mannosidase
MANBA
822Annotation score:
A0A2R8Y4U7A0A2R8Y4U7_HUMAN
Beta-mannosidase
MANBA
509Annotation score:
A0A2R8YEC9A0A2R8YEC9_HUMAN
Beta-mannosidase
MANBA
925Annotation score:
A0A2R8Y524A0A2R8Y524_HUMAN
Beta-mannosidase
MANBA
886Annotation score:
D6RA01D6RA01_HUMAN
Beta-mannosidase
MANBA
68Annotation score:
A0A2R8YE79A0A2R8YE79_HUMAN
Beta-mannosidase
MANBA
397Annotation score:
A0A2R8Y211A0A2R8Y211_HUMAN
Beta-mannosidase
MANBA
365Annotation score:
A0A2R8YCE9A0A2R8YCE9_HUMAN
Beta-mannosidase
MANBA
413Annotation score:
A0A2R8YG98A0A2R8YG98_HUMAN
Beta-mannosidase
MANBA
62Annotation score:
A0A2R8Y7A0A0A2R8Y7A0_HUMAN
Beta-mannosidase
MANBA
199Annotation score:
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti70Y → H in AAC39573 (PubMed:9384606).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_026232253V → I1 PublicationCorresponds to variant dbSNP:rs227368EnsemblClinVar.1
Natural variantiVAR_059311253V → L. Corresponds to variant dbSNP:rs227368EnsemblClinVar.1
Natural variantiVAR_026233701T → M1 PublicationCorresponds to variant dbSNP:rs2866413EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U60337 mRNA Translation: AAC39573.1
AF213884 Genomic DNA Translation: AAF35233.1
BC015743 mRNA Translation: AAH15743.1
CCDSiCCDS3658.1
RefSeqiNP_005899.3, NM_005908.3
UniGeneiHs.480415

Genome annotation databases

EnsembliENST00000226578; ENSP00000226578; ENSG00000109323
ENST00000647097; ENSP00000495247; ENSG00000109323
GeneIDi4126
KEGGihsa:4126
UCSCiuc003hwg.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U60337 mRNA Translation: AAC39573.1
AF213884 Genomic DNA Translation: AAF35233.1
BC015743 mRNA Translation: AAH15743.1
CCDSiCCDS3658.1
RefSeqiNP_005899.3, NM_005908.3
UniGeneiHs.480415

3D structure databases

ProteinModelPortaliO00462
SMRiO00462
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110299, 32 interactors
STRINGi9606.ENSP00000226578

Chemistry databases

BindingDBiO00462
ChEMBLiCHEMBL3903

Protein family/group databases

CAZyiGH2 Glycoside Hydrolase Family 2

PTM databases

GlyConnecti1041
iPTMnetiO00462
PhosphoSitePlusiO00462

Polymorphism and mutation databases

BioMutaiMANBA

Proteomic databases

EPDiO00462
MaxQBiO00462
PaxDbiO00462
PeptideAtlasiO00462
PRIDEiO00462
ProteomicsDBi47912

Protocols and materials databases

DNASUi4126
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000226578; ENSP00000226578; ENSG00000109323
ENST00000647097; ENSP00000495247; ENSG00000109323
GeneIDi4126
KEGGihsa:4126
UCSCiuc003hwg.4 human

Organism-specific databases

CTDi4126
DisGeNETi4126
EuPathDBiHostDB:ENSG00000109323.8
GeneCardsiMANBA
H-InvDBiHIX0022086
HGNCiHGNC:6831 MANBA
HPAiHPA053478
MalaCardsiMANBA
MIMi248510 phenotype
609489 gene
neXtProtiNX_O00462
OpenTargetsiENSG00000109323
Orphaneti118 Beta-mannosidosis
PharmGKBiPA30577
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2230 Eukaryota
COG3250 LUCA
GeneTreeiENSGT00390000001670
HOGENOMiHOG000186862
HOVERGENiHBG052404
InParanoidiO00462
KOiK01192
OMAiGFLMTEK
OrthoDBiEOG091G02FY
PhylomeDBiO00462
TreeFamiTF105723

Enzyme and pathway databases

UniPathwayi
UPA00280

ReactomeiR-HSA-6798695 Neutrophil degranulation
R-HSA-8853383 Lysosomal oligosaccharide catabolism

Miscellaneous databases

ChiTaRSiMANBA human
GeneWikiiBeta-mannosidase
GenomeRNAii4126
PROiPR:O00462
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000109323 Expressed in 208 organ(s), highest expression level in leukocyte
CleanExiHS_MANBA
ExpressionAtlasiO00462 baseline and differential
GenevisibleiO00462 HS

Family and domain databases

Gene3Di2.60.120.260, 1 hit
2.60.40.10, 2 hits
InterProiView protein in InterPro
IPR036156 Beta-gal/glucu_dom_sf
IPR008979 Galactose-bd-like_sf
IPR006103 Glyco_hydro_2_cat
IPR017853 Glycoside_hydrolase_SF
IPR013783 Ig-like_fold
PfamiView protein in Pfam
PF02836 Glyco_hydro_2_C, 1 hit
SUPFAMiSSF49303 SSF49303, 3 hits
SSF49785 SSF49785, 1 hit
SSF51445 SSF51445, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMANBA_HUMAN
AccessioniPrimary (citable) accession number: O00462
Secondary accession number(s): Q96BC3, Q9NYX9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: August 16, 2004
Last modified: October 10, 2018
This is version 161 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, Reference proteome

Documents

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