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Reviewed, UniProtKB/Swiss-Prot O00462 (MANBA_HUMAN)

Last modified July 7, 2009. Version 82. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    Beta-mannosidase
    EC=3.2.1.25
Alternative name(s):
    Lysosomal beta A mannosidase
    Mannanase
      Short name=Mannase
Gene names
Name: MANBA
Synonyms: MANB1
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length879 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level.

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General annotation (Comments)

Function

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

Catalytic activity

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

Pathway

Glycan metabolism; N-glycan degradation.

Subcellular location

Lysosome.

Involvement in disease

Defects in MANBA are the cause of a mild disorder that affects peripheral and central nervous system myelin.

Defects in MANBA are the cause of lysosomal beta-mannosidosis [MIM:248510]. Beta-mannosidosis is an 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-mannosidase activity in plasma, fibroblasts and leukocytes.

Sequence similarities

Belongs to the glycosyl hydrolase 2 family.

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Ontologies

Keywords
   Cellular componentLysosome
   Coding sequence diversityPolymorphism
   DomainSignal
   Molecular functionGlycosidase
Hydrolase
   PTMGlycoprotein
   Technical termComplete proteome
Gene Ontology (GO)
   Biological processcarbohydrate metabolic process

Inferred from electronic annotation. Source: InterPro

protein modification process Ref.1

Non-traceable author statement. Source: UniProtKB

   Cellular componentlysosome

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular functionbeta-mannosidase activity Ref.1

Traceable author statement. Source: ProtInc

cation binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1717 Potential
Chain18 – 879862Beta-mannosidase
PRO_0000012166

Sites

Active site4571Proton donor By similarity

Amino acid modifications

Glycosylation281N-linked (GlcNAc...) Potential
Glycosylation351N-linked (GlcNAc...) Potential
Glycosylation771N-linked (GlcNAc...) Potential
Glycosylation2801N-linked (GlcNAc...) Potential
Glycosylation2841N-linked (GlcNAc...) Potential
Glycosylation2971N-linked (GlcNAc...) Potential
Glycosylation3021N-linked (GlcNAc...) Potential
Glycosylation7631N-linked (GlcNAc...) Potential

Natural variations

Natural variant2531V → I: dbSNP rs227368. Ref.1
VAR_026232
Natural variant7011T → M: dbSNP rs2866413. Ref.3
VAR_026233

Experimental info

Sequence conflict701Y → H in AAC39573. Ref.1

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Sequences

Sequence LengthMass (Da)Tools
O00462-1 [UniParc].

Last modified August 16, 2004. Version 3.
Checksum: FE8173A4276B722E

FASTA879100,895
        10         20         30         40         50         60 
MRLHLLLLLA LCGAGTTAAE LSYSLRGNWS ICNGNGSLEL PGAVPGCVHS ALFQQGLIQD 

        70         80         90        100        110        120 
SYYRFNDLNY RWVSLDNWTY SKEFKIPFEI SKWQKVNLIL EGVDTVSKIL FNEVTIGETD 

       130        140        150        160        170        180 
NMFNRYSFDI TNVVRDVNSI ELRFQSAVLY AAQQSKAHTR YQVPPDCPPL VQKGECHVNF 

       190        200        210        220        230        240 
VRKEQCSFSW DWGPSFPTQG IWKDVRIEAY NICHLNYFTF SPIYDKSAQE WNLEIESTFD 

       250        260        270        280        290        300 
VVSSKPVGGQ VIVAIPKLQT QQTYSIELQP GKRIVELFVN ISKNITVETW WPHGHGNQTG 

       310        320        330        340        350        360 
YNMTVLFELD GGLNIEKSAK VYFRTVELIE EPIKGSPGLS FYFKINGFPI FLKGSNWIPA 

       370        380        390        400        410        420 
DSFQDRVTSE LLRLLLQSVV DANMNTLRVW GGGIYEQDEF YELCDELGIM VWQDFMFACA 

       430        440        450        460        470        480 
LYPTDQGFLD SVTAEVAYQI KRLKSHPSII IWSGNNENEE ALMMNWYHIS FTDRPIYIKD 

       490        500        510        520        530        540 
YVTLYVKNIR ELVLAGDKSR PFITSSPTNG AETVAEAWVS QNPNSNYFGD VHFYDYISDC 

       550        560        570        580        590        600 
WNWKVFPKAR FASEYGYQSW PSFSTLEKVS STEDWSFNSK FSLHRQHHEG GNKQMLYQAG 

       610        620        630        640        650        660 
LHFKLPQSTD PLRTFKDTIY LTQVMQAQCV KTETEFYRRS RSEIVDQQGH TMGALYWQLN 

       670        680        690        700        710        720 
DIWQAPSWAS LEYGGKWKML HYFAQNFFAP LLPVGFENEN TFYIYGVSDL HSDYSMTLSV 

       730        740        750        760        770        780 
RVHTWSSLEP VCSRVTERFV MKGGEAVCLY EEPVSELLRR CGNCTRESCV VSFYLSADHE 

       790        800        810        820        830        840 
LLSPTNYHFL SSPKEAVGLC KAQITAIISQ QGDIFVFDLE TSAVAPFVWL DVGSIPGRFS 

       850        860        870 
DNGFLMTEKT RTILFYPWEP TSKNELEQSF HVTSLTDIY

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References

« Hide 'large scale' references
[1]"Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis."
Alkhayat A.H., Kraemer S.A., Leipprandt J.R., Macek M., Kleijer W.J., Friderici K.H.
Hum. Mol. Genet. 7:75-83(1998) [PubMed: 9384606] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], INVOLVEMENT IN LYSOSOMAL BETA-MANNOSIDASIS, VARIANT ILE-253.
[2]"Genome sequencing of the chromosome 4q region implicated in human hepatocellular carcinoma pathogenesis."
Chang H.-M., Tsai S.-F.
Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT MET-701.
Tissue: Muscle.
+Additional computationally mapped references.

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Web resources

GeneReviews

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Cross-references

Sequence databases

U60337 mRNA. Translation: AAC39573.1.
AF213884 Genomic DNA. Translation: AAF35233.1.
BC015743 mRNA. Translation: AAH15743.1.
IPIIPI00298793.
RefSeqNP_005899.3.
UniGeneHs.480415

3D structure databases

ModBaseSearch...

Protein family/group databases

CAZyGH2. Glycoside Hydrolase Family 2.

PTM databases

PhosphoSiteO00462.

Proteomic databases

PeptideAtlasO00462.
PRIDEO00462.

Genome annotation databases

EnsemblENSG00000109323. Homo sapiens. [Contig view]
GeneID4126.
KEGGhsa:4126.
NMPDRfig|9606.3.peg.24477.
UCSCuc003hwg.1. human.

Organism-specific databases

GeneCardsGC04M103771.
H-InvDBHIX0022086.
HGNCHGNC:6831. MANBA.
MIM248510. phenotype.
609489. gene.
Orphanet118. Beta-mannosidosis.
PharmGKBPA30577.
GenAtlasSearch...

Phylogenomic databases

HOGENOMO00462.
HOVERGENO00462.
OMAO00462. FVRKEQC.

Enzyme and pathway databases

BRENDA3.2.1.25. 247.

Gene expression databases

ArrayExpressO00462.
BgeeO00462.
CleanExHS_MANBA.
GermOnlineENSG00000109323. Homo sapiens.

Family and domain databases

InterProIPR006103. Glyco_hydro_2_TIM.
IPR013781. Glyco_hydro_sg_catalytic.
[Graphical view]
Gene3DG3DSA:3.20.20.80. Glyco_hydro_cat. 1 hit.
PfamPF02836. Glyco_hydro_2_C. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio16200.
SOURCESearch...

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Entry information

Entry nameMANBA_HUMAN
AccessionPrimary (citable) accession number: O00462
Secondary accession number(s): Q96BC3, Q9NYX9
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: August 16, 2004
Last modified: July 7, 2009
This is version 82 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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Relevant documents

Glycosyl hydrolases

Classification of glycosyl hydrolase families and list of entries

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PATHWAY comments

Index of metabolic and biosynthesis pathways

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents