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Entry version 174 (22 Apr 2020)
Sequence version 3 (16 Aug 2004)
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Protein

Beta-mannosidase

Gene

MANBA

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Exoglycosidase that cleaves the single beta-linked mannose residue from the non-reducing end of all N-linked glycoprotein oligosaccharides.2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>pH dependencei

Optimum pH is 4.5-5.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: N-glycan degradation

This protein is involved in the pathway N-glycan degradation, which is part of Glycan metabolism.2 Publications
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
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei456SubstrateBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei457Proton donorBy similarity1
Active sitei554NucleophileBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • beta-mannosidase activity Source: UniProtKB
  • mannose binding Source: Ensembl

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGlycosidase, Hydrolase

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6798695 Neutrophil degranulation
R-HSA-8853383 Lysosomal oligosaccharide catabolism

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00280

Protein family/group databases

Carbohydrate-Active enZymes

More...
CAZyi
GH2 Glycoside Hydrolase Family 2

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Beta-mannosidase (EC:3.2.1.253 Publications)
Alternative name(s):
Lysosomal beta A mannosidase
Mannanase
Short name:
Mannase
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MANBA
Synonyms:MANB1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:6831 MANBA

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609489 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O00462

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Lysosome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Mannosidosis, beta A, lysosomal (MANSB)5 Publications
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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_081392182R → W in MANSB; nearly complete loss of enzyme activity. 3 PublicationsCorresponds to variant dbSNP:rs374377679Ensembl.1
Natural variantiVAR_081393392G → E in MANSB; nearly complete loss of enzyme activity. 3 Publications1
Natural variantiVAR_081394466 – 879Missing in MANSB; complete loss of enzyme activity. 2 PublicationsAdd BLAST414
Natural variantiVAR_081395505S → P in MANSB; nearly complete loss of enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs121434334EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi638R → H: No effect on enzyme activity (in vitro). 1 Publication1
Mutagenesisi641R → H: No effect on enzyme activity (in vitro). Decreased protein stability. 1 Publication1
Mutagenesisi749L → H: No effect on enzyme activity (in vitro). No effect on protein stability. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
4126

MalaCards human disease database

More...
MalaCardsi
MANBA
MIMi248510 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000109323

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
118 Beta-mannosidosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30577

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
O00462 Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3903

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MANBA

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 17Sequence analysisAdd BLAST17
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001216618 – 879Beta-mannosidaseAdd BLAST862

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi28N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi35N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi77N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi167 ↔ 176By similarity
Glycosylationi280N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi284N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi297N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi302N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi540 ↔ 629By similarity
Disulfide bondi732 ↔ 761By similarity
Glycosylationi763N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi764 ↔ 769By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O00462

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O00462

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
O00462

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O00462

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O00462

PeptideAtlas

More...
PeptideAtlasi
O00462

PRoteomics IDEntifications database

More...
PRIDEi
O00462

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
47912

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1041

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O00462

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O00462

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous. Detected in pancreas, kidney and placenta, ands at lower levels in liver, lung, brain, heart and muscle.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000109323 Expressed in leukocyte and 207 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O00462 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O00462 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000109323 Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer.

By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
110299, 32 interactors

Protein interaction database and analysis system

More...
IntActi
O00462, 12 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000226578

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
O00462

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
O00462 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
O00462

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni190 – 192Substrate bindingBy similarity3

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the glycosyl hydrolase 2 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2230 Eukaryota
COG3250 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000001670

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O00462

KEGG Orthology (KO)

More...
KOi
K01192

Identification of Orthologs from Complete Genome Data

More...
OMAi
MFRRYDF

Database of Orthologous Groups

More...
OrthoDBi
517710at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O00462

TreeFam database of animal gene trees

More...
TreeFami
TF105723

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.120.260, 1 hit
2.60.40.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR036156 Beta-gal/glucu_dom_sf
IPR041625 Beta-mannosidase_Ig
IPR008979 Galactose-bd-like_sf
IPR006103 Glyco_hydro_2_cat
IPR017853 Glycoside_hydrolase_SF
IPR013783 Ig-like_fold
IPR041447 Mannosidase_ig

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02836 Glyco_hydro_2_C, 1 hit
PF17753 Ig_mannosidase, 1 hit
PF17786 Mannosidase_ig, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49303 SSF49303, 3 hits
SSF49785 SSF49785, 1 hit
SSF51445 SSF51445, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iFE8173A4276B722E
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y524A0A2R8Y524_HUMAN
Beta-mannosidase
MANBA
886Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YEC9A0A2R8YEC9_HUMAN
Beta-mannosidase
MANBA
925Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y4U7A0A2R8Y4U7_HUMAN
Beta-mannosidase
MANBA
509Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RA01D6RA01_HUMAN
Beta-mannosidase
MANBA
68Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y211A0A2R8Y211_HUMAN
Beta-mannosidase
MANBA
365Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YCE9A0A2R8YCE9_HUMAN
Beta-mannosidase
MANBA
413Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YE79A0A2R8YE79_HUMAN
Beta-mannosidase
MANBA
397Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YG98A0A2R8YG98_HUMAN
Beta-mannosidase
MANBA
62Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y7A0A0A2R8Y7A0_HUMAN
Beta-mannosidase
MANBA
199Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti70Y → H in AAC39573 (PubMed:9384606).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_081392182R → W in MANSB; nearly complete loss of enzyme activity. 3 PublicationsCorresponds to variant dbSNP:rs374377679Ensembl.1
Natural variantiVAR_026232253V → I Decreased enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs227368EnsemblClinVar.1
Natural variantiVAR_059311253V → L. Corresponds to variant dbSNP:rs227368EnsemblClinVar.1
Natural variantiVAR_081393392G → E in MANSB; nearly complete loss of enzyme activity. 3 Publications1
Natural variantiVAR_081394466 – 879Missing in MANSB; complete loss of enzyme activity. 2 PublicationsAdd BLAST414
Natural variantiVAR_081395505S → P in MANSB; nearly complete loss of enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs121434334EnsemblClinVar.1
Natural variantiVAR_026233701T → M1 PublicationCorresponds to variant dbSNP:rs2866413EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
U60337 mRNA Translation: AAC39573.1
AF213884 Genomic DNA Translation: AAF35233.1
BC015743 mRNA Translation: AAH15743.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS3658.1

NCBI Reference Sequences

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RefSeqi
NP_005899.3, NM_005908.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000647097; ENSP00000495247; ENSG00000109323

Database of genes from NCBI RefSeq genomes

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GeneIDi
4126

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:4126

UCSC genome browser

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UCSCi
uc003hwg.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

SMRiO00462
ModBaseiSearch...

Protein-protein interaction databases

BioGridi110299, 32 interactors
IntActiO00462, 12 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
jPOSTiO00462
MassIVEiO00462
MaxQBiO00462
PaxDbiO00462
PeptideAtlasiO00462
PRIDEiO00462
ProteomicsDBi47912

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
26046 66 antibodies

The DNASU plasmid repository

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DNASUi
4126

Genome annotation databases

EnsembliENST00000647097; ENSP00000495247; ENSG00000109323
GeneIDi4126
KEGGihsa:4126
UCSCiuc003hwg.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
4126
DisGeNETi4126

GeneCards: human genes, protein and diseases

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GeneCardsi
MANBA
HGNCiHGNC:6831 MANBA
HPAiENSG00000109323 Low tissue specificity
MalaCardsiMANBA
MIMi248510 phenotype
609489 gene
neXtProtiNX_O00462
OpenTargetsiENSG00000109323
Orphaneti118 Beta-mannosidosis
PharmGKBiPA30577

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2230 Eukaryota
COG3250 LUCA
GeneTreeiENSGT00390000001670
InParanoidiO00462
KOiK01192
OMAiMFRRYDF
OrthoDBi517710at2759
PhylomeDBiO00462
TreeFamiTF105723

Enzyme and pathway databases

UniPathwayiUPA00280
ReactomeiR-HSA-6798695 Neutrophil degranulation
R-HSA-8853383 Lysosomal oligosaccharide catabolism

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
MANBA human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Beta-mannosidase

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
4126
PharosiO00462 Tchem

Protein Ontology

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PROi
PR:O00462
RNActiO00462 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000109323 Expressed in leukocyte and 207 other tissues
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
IPR041625 Beta-mannosidase_Ig
IPR008979 Galactose-bd-like_sf
IPR006103 Glyco_hydro_2_cat
IPR017853 Glycoside_hydrolase_SF
IPR013783 Ig-like_fold
IPR041447 Mannosidase_ig
PfamiView protein in Pfam
PF02836 Glyco_hydro_2_C, 1 hit
PF17753 Ig_mannosidase, 1 hit
PF17786 Mannosidase_ig, 1 hit
SUPFAMiSSF49303 SSF49303, 3 hits
SSF49785 SSF49785, 1 hit
SSF51445 SSF51445, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMANBA_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O00462
Secondary accession number(s): Q96BC3, Q9NYX9
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: August 16, 2004
Last modified: April 22, 2020
This is version 174 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

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