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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

GO - Biological processi

Keywordsi

Molecular functionGlycosidase, Hydrolase

Enzyme and pathway databases

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

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

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

BioGridi11029932 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

Gene3Di2.60.120.2601 hit
2.60.40.102 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

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 → I1 PublicationCorresponds to variant dbSNP:rs227368Ensembl.1
Natural variantiVAR_059311253V → L. Corresponds to variant dbSNP:rs227368Ensembl.1
Natural variantiVAR_026233701T → M1 PublicationCorresponds to variant dbSNP:rs2866413Ensembl.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

Similar proteinsi

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: March 28, 2018
This is version 158 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