SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

O00462

- MANBA_HUMAN

UniProt

O00462 - MANBA_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
Beta-mannosidase
Gene
MANBA, MANB1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein 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

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei457 – 4571Proton donor By similarity

GO - Molecular functioni

  1. beta-mannosidase activity Source: ProtInc
  2. mannose binding Source: Ensembl

GO - Biological processi

  1. cellular protein modification process Source: UniProtKB
  2. glycoprotein catabolic process Source: Ensembl
  3. mannan catabolic process Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Glycosidase, Hydrolase

Enzyme and pathway databases

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
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:6831. MANBA.

Subcellular locationi

GO - Cellular componenti

  1. intracellular membrane-bounded organelle Source: HPA
  2. lysosome Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

Defects in MANBA are the cause of a mild disorder that affects peripheral and central nervous system myelin.
Mannosidosis, beta A, lysosomal (MANSB) [MIM:248510]: 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 A mannosidase activity in plasma, fibroblasts and leukocytes.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Organism-specific databases

MIMi248510. phenotype.
Orphaneti118. Beta-mannosidosis.
PharmGKBiPA30577.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1717 Reviewed prediction
Add
BLAST
Chaini18 – 879862Beta-mannosidase
PRO_0000012166Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi28 – 281N-linked (GlcNAc...) Reviewed prediction
Glycosylationi35 – 351N-linked (GlcNAc...) Reviewed prediction
Glycosylationi77 – 771N-linked (GlcNAc...) Reviewed prediction
Glycosylationi280 – 2801N-linked (GlcNAc...) Reviewed prediction
Glycosylationi284 – 2841N-linked (GlcNAc...) Reviewed prediction
Glycosylationi297 – 2971N-linked (GlcNAc...) Reviewed prediction
Glycosylationi302 – 3021N-linked (GlcNAc...) Reviewed prediction
Glycosylationi763 – 7631N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiO00462.
PaxDbiO00462.
PeptideAtlasiO00462.
PRIDEiO00462.

PTM databases

PhosphoSiteiO00462.

Expressioni

Gene expression databases

ArrayExpressiO00462.
BgeeiO00462.
CleanExiHS_MANBA.
GenevestigatoriO00462.

Organism-specific databases

HPAiHPA053478.

Interactioni

Protein-protein interaction databases

BioGridi110299. 1 interaction.
STRINGi9606.ENSP00000226578.

Structurei

3D structure databases

ProteinModelPortaliO00462.
SMRiO00462. Positions 25-857.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiCOG3250.
HOGENOMiHOG000186862.
HOVERGENiHBG052404.
InParanoidiO00462.
KOiK01192.
OMAiQPFYIPY.
OrthoDBiEOG7S7SD2.
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.
IPR006102. Glyco_hydro_2_Ig-like.
IPR006104. Glyco_hydro_2_N.
IPR006103. Glyco_hydro_2_TIM.
IPR013781. Glyco_hydro_catalytic_dom.
IPR017853. Glycoside_hydrolase_SF.
IPR028369. Mannanase.
[Graphical view]
PANTHERiPTHR10066:SF12. PTHR10066:SF12. 1 hit.
PfamiPF02836. Glyco_hydro_2_C. 1 hit.
PF02837. Glyco_hydro_2_N. 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

MRLHLLLLLA LCGAGTTAAE LSYSLRGNWS ICNGNGSLEL PGAVPGCVHS    50
ALFQQGLIQD SYYRFNDLNY RWVSLDNWTY SKEFKIPFEI SKWQKVNLIL 100
EGVDTVSKIL FNEVTIGETD NMFNRYSFDI TNVVRDVNSI ELRFQSAVLY 150
AAQQSKAHTR YQVPPDCPPL VQKGECHVNF VRKEQCSFSW DWGPSFPTQG 200
IWKDVRIEAY NICHLNYFTF SPIYDKSAQE WNLEIESTFD VVSSKPVGGQ 250
VIVAIPKLQT QQTYSIELQP GKRIVELFVN ISKNITVETW WPHGHGNQTG 300
YNMTVLFELD GGLNIEKSAK VYFRTVELIE EPIKGSPGLS FYFKINGFPI 350
FLKGSNWIPA DSFQDRVTSE LLRLLLQSVV DANMNTLRVW GGGIYEQDEF 400
YELCDELGIM VWQDFMFACA LYPTDQGFLD SVTAEVAYQI KRLKSHPSII 450
IWSGNNENEE ALMMNWYHIS FTDRPIYIKD YVTLYVKNIR ELVLAGDKSR 500
PFITSSPTNG AETVAEAWVS QNPNSNYFGD VHFYDYISDC WNWKVFPKAR 550
FASEYGYQSW PSFSTLEKVS STEDWSFNSK FSLHRQHHEG GNKQMLYQAG 600
LHFKLPQSTD PLRTFKDTIY LTQVMQAQCV KTETEFYRRS RSEIVDQQGH 650
TMGALYWQLN DIWQAPSWAS LEYGGKWKML HYFAQNFFAP LLPVGFENEN 700
TFYIYGVSDL HSDYSMTLSV RVHTWSSLEP VCSRVTERFV MKGGEAVCLY 750
EEPVSELLRR CGNCTRESCV VSFYLSADHE LLSPTNYHFL SSPKEAVGLC 800
KAQITAIISQ QGDIFVFDLE TSAVAPFVWL DVGSIPGRFS DNGFLMTEKT 850
RTILFYPWEP TSKNELEQSF HVTSLTDIY 879
Length:879
Mass (Da):100,895
Last modified:August 16, 2004 - v3
Checksum:iFE8173A4276B722E
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti253 – 2531V → I.1 Publication
Corresponds to variant rs227368 [ dbSNP | Ensembl ].
VAR_026232
Natural varianti253 – 2531V → L.
Corresponds to variant rs227368 [ dbSNP | Ensembl ].
VAR_059311
Natural varianti701 – 7011T → M.1 Publication
Corresponds to variant rs2866413 [ dbSNP | Ensembl ].
VAR_026233

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti70 – 701Y → H in AAC39573. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U60337 mRNA. Translation: AAC39573.1 .
AF213884 Genomic DNA. Translation: AAF35233.1 .
BC015743 mRNA. Translation: AAH15743.1 .
CCDSi CCDS3658.1.
RefSeqi NP_005899.3. NM_005908.3.
UniGenei Hs.480415.

3D structure databases

ProteinModelPortali O00462.
SMRi O00462. Positions 25-857.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110299. 1 interaction.
STRINGi 9606.ENSP00000226578.

Chemistry

BindingDBi O00462.
ChEMBLi CHEMBL3903.

Protein family/group databases

CAZyi GH2. Glycoside Hydrolase Family 2.

PTM databases

PhosphoSitei O00462.

Proteomic databases

MaxQBi O00462.
PaxDbi O00462.
PeptideAtlasi O00462.
PRIDEi O00462.

Protocols and materials databases

DNASUi 4126.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000226578 ; ENSP00000226578 ; ENSG00000109323 .
GeneIDi 4126.
KEGGi hsa:4126.
UCSCi uc003hwg.3. human.

Organism-specific databases

CTDi 4126.
GeneCardsi GC04M103552.
H-InvDB HIX0022086.
HGNCi HGNC:6831. MANBA.
HPAi HPA053478.
MIMi 248510. phenotype.
609489. gene.
neXtProti NX_O00462.
Orphaneti 118. Beta-mannosidosis.
PharmGKBi PA30577.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG3250.
HOGENOMi HOG000186862.
HOVERGENi HBG052404.
InParanoidi O00462.
KOi K01192.
OMAi QPFYIPY.
OrthoDBi EOG7S7SD2.
PhylomeDBi O00462.
TreeFami TF105723.

Enzyme and pathway databases

UniPathwayi UPA00280 .

Miscellaneous databases

GeneWikii Beta-mannosidase.
GenomeRNAii 4126.
NextBioi 16200.
PROi O00462.
SOURCEi Search...

Gene expression databases

ArrayExpressi O00462.
Bgeei O00462.
CleanExi HS_MANBA.
Genevestigatori O00462.

Family and domain databases

Gene3Di 2.60.120.260. 2 hits.
2.60.40.320. 1 hit.
3.20.20.80. 2 hits.
InterProi IPR008979. Galactose-bd-like.
IPR013812. Glyco_hydro_2/20_Ig-like.
IPR006102. Glyco_hydro_2_Ig-like.
IPR006104. Glyco_hydro_2_N.
IPR006103. Glyco_hydro_2_TIM.
IPR013781. Glyco_hydro_catalytic_dom.
IPR017853. Glycoside_hydrolase_SF.
IPR028369. Mannanase.
[Graphical view ]
PANTHERi PTHR10066:SF12. PTHR10066:SF12. 1 hit.
Pfami PF02836. Glyco_hydro_2_C. 1 hit.
PF02837. Glyco_hydro_2_N. 1 hit.
[Graphical view ]
SUPFAMi SSF49303. SSF49303. 3 hits.
SSF49785. SSF49785. 1 hit.
SSF51445. SSF51445. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], INVOLVEMENT IN MANSB, 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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT MET-701.
    Tissue: Muscle.

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: July 9, 2014
This is version 128 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

External Data

Dasty 3

Similar proteinsi