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Protein

Beta-mannosidase

Gene

MANBA

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

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Glycosidase, Hydrolase

Enzyme and pathway databases

BioCyciZFISH:HS03219-MONOMER.
ReactomeiR-HSA-6798695. Neutrophil degranulation.
R-HSA-8853383. Lysosomal oligosaccharide catabolism.
UniPathwayiUPA00280.

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:6831. MANBA.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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...)Sequence analysis1
Glycosylationi35N-linked (GlcNAc...)Sequence analysis1
Glycosylationi77N-linked (GlcNAc...)Sequence analysis1
Glycosylationi280N-linked (GlcNAc...)Sequence analysis1
Glycosylationi284N-linked (GlcNAc...)Sequence analysis1
Glycosylationi297N-linked (GlcNAc...)Sequence analysis1
Glycosylationi302N-linked (GlcNAc...)Sequence analysis1
Glycosylationi763N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiO00462.
MaxQBiO00462.
PaxDbiO00462.
PeptideAtlasiO00462.
PRIDEiO00462.

PTM databases

iPTMnetiO00462.
PhosphoSitePlusiO00462.

Expressioni

Gene expression databases

BgeeiENSG00000109323.
CleanExiHS_MANBA.
ExpressionAtlasiO00462. baseline and differential.
GenevisibleiO00462. HS.

Organism-specific databases

HPAiHPA053478.

Interactioni

Protein-protein interaction databases

BioGridi110299. 18 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.
OMAiMLYVENI.
OrthoDBiEOG091G02FY.
PhylomeDBiO00462.
TreeFamiTF105723.

Family and domain databases

Gene3Di2.60.120.260. 2 hits.
2.60.40.320. 1 hit.
3.20.20.80. 2 hits.
InterProiIPR008979. Galactose-bd-like.
IPR013812. Glyco_hydro_2/20_Ig-like.
IPR006103. Glyco_hydro_2_cat.
IPR006102. Glyco_hydro_2_Ig-like.
IPR013781. Glyco_hydro_catalytic_dom.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view]
PfamiPF02836. Glyco_hydro_2_C. 1 hit.
[Graphical view]
SUPFAMiSSF49303. SSF49303. 3 hits.
SSF49785. SSF49785. 1 hit.
SSF51445. SSF51445. 1 hit.

Sequencei

Sequence statusi: Complete.

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

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

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 → I.1 PublicationCorresponds to variant rs227368dbSNPEnsembl.1
Natural variantiVAR_059311253V → L.Corresponds to variant rs227368dbSNPEnsembl.1
Natural variantiVAR_026233701T → M.1 PublicationCorresponds to variant rs2866413dbSNPEnsembl.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.
GeneIDi4126.
KEGGihsa:4126.
UCSCiuc003hwg.4. human.

Keywords - Coding sequence diversityi

Polymorphism

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. 18 interactors.
STRINGi9606.ENSP00000226578.

Chemistry databases

BindingDBiO00462.
ChEMBLiCHEMBL3903.

Protein family/group databases

CAZyiGH2. Glycoside Hydrolase Family 2.

PTM databases

iPTMnetiO00462.
PhosphoSitePlusiO00462.

Polymorphism and mutation databases

BioMutaiMANBA.

Proteomic databases

EPDiO00462.
MaxQBiO00462.
PaxDbiO00462.
PeptideAtlasiO00462.
PRIDEiO00462.

Protocols and materials databases

DNASUi4126.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi4126.
DisGeNETi4126.
GeneCardsiMANBA.
H-InvDBHIX0022086.
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.
OMAiMLYVENI.
OrthoDBiEOG091G02FY.
PhylomeDBiO00462.
TreeFamiTF105723.

Enzyme and pathway databases

UniPathwayiUPA00280.
BioCyciZFISH:HS03219-MONOMER.
ReactomeiR-HSA-6798695. Neutrophil degranulation.
R-HSA-8853383. Lysosomal oligosaccharide catabolism.

Miscellaneous databases

GeneWikiiBeta-mannosidase.
GenomeRNAii4126.
PROiO00462.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000109323.
CleanExiHS_MANBA.
ExpressionAtlasiO00462. baseline and differential.
GenevisibleiO00462. HS.

Family and domain databases

Gene3Di2.60.120.260. 2 hits.
2.60.40.320. 1 hit.
3.20.20.80. 2 hits.
InterProiIPR008979. Galactose-bd-like.
IPR013812. Glyco_hydro_2/20_Ig-like.
IPR006103. Glyco_hydro_2_cat.
IPR006102. Glyco_hydro_2_Ig-like.
IPR013781. Glyco_hydro_catalytic_dom.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view]
PfamiPF02836. Glyco_hydro_2_C. 1 hit.
[Graphical view]
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 historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: August 16, 2004
Last modified: November 30, 2016
This is version 147 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, Reference proteome

Documents

  1. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  2. Human chromosome 4
    Human chromosome 4: 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  7. 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.