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UniProtKB - O00754 (MA2B1_HUMAN)

Entry version 213 (29 Sep 2021)
Sequence version 3 (31 Oct 2006)
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Protein

Lysosomal alpha-mannosidase

Gene

MAN2B1

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

Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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

  • Hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. EC:3.2.1.24

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Zn2+By similarityNote: Binds 1 zinc ion per subunit.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi72ZincBy similarity1
Metal bindingi74ZincBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 sitei196NucleophileBy similarity1
Metal bindingi196ZincBy similarity1
Metal bindingi446ZincBy 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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
LigandMetal-binding, Zinc

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		3.2.1.24, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O00754

Reactome - a knowledgebase of biological pathways and processes

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

Protein family/group databases

Carbohydrate-Active enZymes

More...CAZyi		GH38, Glycoside Hydrolase Family 38

<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_and_taxonomy_section">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:
Lysosomal alpha-mannosidase (EC:3.2.1.24)
Short name:
Laman
Alternative name(s):
Lysosomal acid alpha-mannosidase
Mannosidase alpha class 2B member 1
Mannosidase alpha-B
Cleaved into the following 5 chains:
Lysosomal alpha-mannosidase A peptide
Lysosomal alpha-mannosidase B peptide
Lysosomal alpha-mannosidase C peptide
Lysosomal alpha-mannosidase D peptide
Lysosomal alpha-mannosidase E peptide
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:MAN2B1
Synonyms:LAMAN, MANB
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 19

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:6826, MAN2B1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		609458, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O00754

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000104774

<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

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, alpha B, lysosomal (MANSA)6 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA lysosomal storage disease characterized by accumulation of unbranched oligosaccharide chains. This accumulation is expressed histologically as cytoplasmic vacuolation predominantly in the CNS and parenchymatous organs. Depending on the clinical findings at the age of onset, a severe infantile (type I) and a mild juvenile (type II) form of alpha-mannosidosis are recognized. There is considerable variation in the clinical expression with mental retardation, recurrent infections, impaired hearing and Hurler-like skeletal changes being the most consistent abnormalities.
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_06803455C → F in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621975EnsemblClinVar.1
Natural variantiVAR_00333872H → L in MANSA; type II. 2 PublicationsCorresponds to variant dbSNP:rs387906261EnsemblClinVar.1
Natural variantiVAR_06803574D → E in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs746702002EnsemblClinVar.1
Natural variantiVAR_06803695A → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs754036398EnsemblClinVar.1
Natural variantiVAR_06803799Y → H in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs794727484EnsemblClinVar.1
Natural variantiVAR_068038159D → N in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621976EnsemblClinVar.1
Natural variantiVAR_068039197P → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621977EnsemblClinVar.1
Natural variantiVAR_026412200H → L in MANSA; no residual enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs864621978EnsemblClinVar.1
Natural variantiVAR_068040200H → N in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs772108001EnsemblClinVar.1
Natural variantiVAR_068041202R → P in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621979EnsemblClinVar.1
Natural variantiVAR_068042229R → W in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs763257568EnsemblClinVar.1
Natural variantiVAR_068044263P → L in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs746808159EnsemblClinVar.1
Natural variantiVAR_068046318S → L in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs774034389EnsemblClinVar.1
Natural variantiVAR_068047339 – 342Missing in MANSA. 1 Publication4
Natural variantiVAR_068048352L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621980EnsemblClinVar.1
Natural variantiVAR_003342355T → P in MANSA. 1 PublicationCorresponds to variant dbSNP:rs864621992EnsemblClinVar.1
Natural variantiVAR_003343356P → R in MANSA; type I. 1 PublicationCorresponds to variant dbSNP:rs121434333EnsemblClinVar.1
Natural variantiVAR_068049379P → L in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621981EnsemblClinVar.1
Natural variantiVAR_068050390G → C in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621982EnsemblClinVar.1
Natural variantiVAR_003344402E → K in MANSA; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs370760999EnsemblClinVar.1
Natural variantiVAR_068051420G → V in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs772853856EnsemblClinVar.1
Natural variantiVAR_068052445H → Y in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621983EnsemblClinVar.1
Natural variantiVAR_068053451G → C in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs368899357EnsemblClinVar.1
Natural variantiVAR_068054453S → F in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621984EnsemblClinVar.1
Natural variantiVAR_026413453S → Y in MANSA. 2 PublicationsCorresponds to variant dbSNP:rs864621984EnsemblClinVar.1
Natural variantiVAR_068055457V → E in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621985EnsemblClinVar.1
Natural variantiVAR_068056501C → S in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs747721968EnsemblClinVar.1
Natural variantiVAR_068057565L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621986EnsemblClinVar.1
Natural variantiVAR_003346714W → R in MANSA. 1 PublicationCorresponds to variant dbSNP:rs864621993EnsemblClinVar.1
Natural variantiVAR_068059745T → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621987EnsemblClinVar.1
Natural variantiVAR_003347750R → W in MANSA; type II. 1 PublicationCorresponds to variant dbSNP:rs80338680EnsemblClinVar.1
Natural variantiVAR_068060800G → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs398123456EnsemblClinVar.1
Natural variantiVAR_068061800G → W in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs398123456EnsemblClinVar.1
Natural variantiVAR_026414801G → D in MANSA; no residual enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621994EnsemblClinVar.1
Natural variantiVAR_003348809L → P in MANSA. 1 PublicationCorresponds to variant dbSNP:rs80338681EnsemblClinVar.1
Natural variantiVAR_068062815R → RHR in MANSA; results in less than 20% of wild-type enzyme activity. 1
Natural variantiVAR_068063891G → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621988EnsemblClinVar.1
Natural variantiVAR_068064892L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621989EnsemblClinVar.1
Natural variantiVAR_068065916R → C in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621990EnsemblClinVar.1
Natural variantiVAR_068066916R → H in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs758765126EnsemblClinVar.1
Natural variantiVAR_068067950R → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs139041112EnsemblClinVar.1
Natural variantiVAR_068068956L → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs768233248EnsemblClinVar.1
Natural variantiVAR_0680691000F → S in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621991EnsemblClinVar.1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		4125

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		MAN2B1

MalaCards human disease database

More...MalaCardsi		MAN2B1
MIMi248500, phenotype

Open Targets

More...OpenTargetsi		ENSG00000104774

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

More...Orphaneti		309288, Alpha-mannosidosis, adult form
309282, Alpha-mannosidosis, infantile form

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30575

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O00754, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4059

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MAN2B1

<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 – 49Add BLAST49
<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_000001206950 – 1011Lysosomal alpha-mannosidaseAdd BLAST962
ChainiPRO_000001207050 – 345Lysosomal alpha-mannosidase A peptideAdd BLAST296
ChainiPRO_0000012071346 – 429Lysosomal alpha-mannosidase B peptideAdd BLAST84
ChainiPRO_0000012072430 – 601Lysosomal alpha-mannosidase C peptideAdd BLAST172
ChainiPRO_0000012073602 – 882Lysosomal alpha-mannosidase D peptideAdd BLAST281
ChainiPRO_0000012074883 – 1011Lysosomal alpha-mannosidase E peptideAdd BLAST129

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 bondi55 ↔ 358By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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>Glycosylationi133N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi268 ↔ 273By similarity
Glycosylationi310N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi367N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi412 ↔ 472By similarity
Disulfide bondi493 ↔ 501By similarity
Glycosylationi497N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi645N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi651N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi692N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi766N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi832N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi930N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi989N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

First processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). The 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked.
Heavily glycosylated.2 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein, Zymogen

Proteomic databases

The CPTAC Assay portal

More...CPTACi		CPTAC-2225

Encyclopedia of Proteome Dynamics

More...EPDi		O00754

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O00754

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O00754

MaxQB - The MaxQuant DataBase

More...MaxQBi		O00754

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

More...PaxDbi		O00754

PeptideAtlas

More...PeptideAtlasi		O00754

PRoteomics IDEntifications database

More...PRIDEi		O00754

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		33811
48018 [O00754-1]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		775, 16 N-Linked glycans (6 sites)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		O00754, 13 sites, 16 N-linked glycans (6 sites), 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O00754

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

More...PhosphoSitePlusi		O00754

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000104774, Expressed in testis and 121 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O00754, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O00754, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000104774, 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		110298, 21 interactors

Protein interaction database and analysis system

More...IntActi		O00754, 5 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000395473

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		O00754

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O00754, 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		O00754

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

<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 38 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1959, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT01040000240950

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_004690_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O00754

Identification of Orthologs from Complete Genome Data

More...OMAi		LEFIWRP

Database of Orthologous Groups

More...OrthoDBi		172471at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O00754

TreeFam database of animal gene trees

More...TreeFami		TF313840

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.1270.50, 2 hits
2.60.40.1180, 1 hit
3.20.110.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR011013, Gal_mutarotase_sf_dom
IPR041147, GH38_C
IPR011330, Glyco_hydro/deAcase_b/a-brl
IPR011682, Glyco_hydro_38_C
IPR015341, Glyco_hydro_38_cen
IPR037094, Glyco_hydro_38_cen_sf
IPR000602, Glyco_hydro_38_N
IPR027291, Glyco_hydro_38_N_sf
IPR028995, Glyco_hydro_57/38_cen_sf
IPR013780, Glyco_hydro_b

Pfam protein domain database

More...Pfami		View protein in Pfam
PF09261, Alpha-mann_mid, 1 hit
PF17677, Glyco_hydro38C2, 1 hit
PF07748, Glyco_hydro_38C, 1 hit
PF01074, Glyco_hydro_38N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00872, Alpha-mann_mid, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF74650, SSF74650, 1 hit
SSF88688, SSF88688, 1 hit
SSF88713, SSF88713, 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_length">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>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O00754-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGAYARASGV CARGCLDSAG PWTMSRALRP PLPPLCFFLL LLAAAGARAG 
        60         70         80         90        100
GYETCPTVQP NMLNVHLLPH THDDVGWLKT VDQYFYGIKN DIQHAGVQYI 
       110        120        130        140        150
LDSVISALLA DPTRRFIYVE IAFFSRWWHQ QTNATQEVVR DLVRQGRLEF 
       160        170        180        190        200
ANGGWVMNDE AATHYGAIVD QMTLGLRFLE DTFGNDGRPR VAWHIDPFGH 
       210        220        230        240        250
SREQASLFAQ MGFDGFFFGR LDYQDKWVRM QKLEMEQVWR ASTSLKPPTA 
       260        270        280        290        300
DLFTGVLPNG YNPPRNLCWD VLCVDQPLVE DPRSPEYNAK ELVDYFLNVA 
       310        320        330        340        350
TAQGRYYRTN HTVMTMGSDF QYENANMWFK NLDKLIRLVN AQQAKGSSVH 
       360        370        380        390        400
VLYSTPACYL WELNKANLTW SVKHDDFFPY ADGPHQFWTG YFSSRPALKR 
       410        420        430        440        450
YERLSYNFLQ VCNQLEALVG LAANVGPYGS GDSAPLNEAM AVLQHHDAVS 
       460        470        480        490        500
GTSRQHVAND YARQLAAGWG PCEVLLSNAL ARLRGFKDHF TFCQQLNISI 
       510        520        530        540        550
CPLSQTAARF QVIVYNPLGR KVNWMVRLPV SEGVFVVKDP NGRTVPSDVV 
       560        570        580        590        600
IFPSSDSQAH PPELLFSASL PALGFSTYSV AQVPRWKPQA RAPQPIPRRS 
       610        620        630        640        650
WSPALTIENE HIRATFDPDT GLLMEIMNMN QQLLLPVRQT FFWYNASIGD 
       660        670        680        690        700
NESDQASGAY IFRPNQQKPL PVSRWAQIHL VKTPLVQEVH QNFSAWCSQV 
       710        720        730        740        750
VRLYPGQRHL ELEWSVGPIP VGDTWGKEVI SRFDTPLETK GRFYTDSNGR 
       760        770        780        790        800
EILERRRDYR PTWKLNQTEP VAGNYYPVNT RIYITDGNMQ LTVLTDRSQG 
       810        820        830        840        850
GSSLRDGSLE LMVHRRLLKD DGRGVSEPLM ENGSGAWVRG RHLVLLDTAQ 
       860        870        880        890        900
AAAAGHRLLA EQEVLAPQVV LAPGGGAAYN LGAPPRTQFS GLRRDLPPSV 
       910        920        930        940        950
HLLTLASWGP EMVLLRLEHQ FAVGEDSGRN LSAPVTLNLR DLFSTFTITR 
       960        970        980        990       1000
LQETTLVANQ LREAASRLKW TTNTGPTPHQ TPYQLDPANI TLEPMEIRTF 
      1010 
LASVQWKEVD G
Length:1,011
Mass (Da):113,744
Last modified:October 31, 2006 - 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:iE11C77C19D8BD88C
GO
Isoform 2 (identifier: O00754-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     343-343: Missing.

Show »
Length:1,010
Mass (Da):113,616
Checksum:iBCCA165E4D5D46CA
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0QZG6M0QZG6_HUMAN
Lysosomal alpha-mannosidase
MAN2B1
172Annotation 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>
M0QYZ1M0QYZ1_HUMAN
Lysosomal alpha-mannosidase
MAN2B1
164Annotation 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>
M0R174M0R174_HUMAN
Lysosomal alpha-mannosidase
MAN2B1
140Annotation 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>
M0QXY0M0QXY0_HUMAN
Lysosomal alpha-mannosidase
MAN2B1
67Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAB03816 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAC50812 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

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 conflicti3Missing in AAC51362 (PubMed:9192839).Curated1
Sequence conflicti186D → V in AAC34130 (PubMed:9158146).Curated1
Sequence conflicti384P → H in AAC50812 (PubMed:8910458).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06803455C → F in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621975EnsemblClinVar.1
Natural variantiVAR_00333872H → L in MANSA; type II. 2 PublicationsCorresponds to variant dbSNP:rs387906261EnsemblClinVar.1
Natural variantiVAR_06803574D → E in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs746702002EnsemblClinVar.1
Natural variantiVAR_06803695A → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs754036398EnsemblClinVar.1
Natural variantiVAR_06803799Y → H in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs794727484EnsemblClinVar.1
Natural variantiVAR_068038159D → N in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621976EnsemblClinVar.1
Natural variantiVAR_068039197P → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621977EnsemblClinVar.1
Natural variantiVAR_026412200H → L in MANSA; no residual enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs864621978EnsemblClinVar.1
Natural variantiVAR_068040200H → N in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs772108001EnsemblClinVar.1
Natural variantiVAR_068041202R → P in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621979EnsemblClinVar.1
Natural variantiVAR_068042229R → W in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs763257568EnsemblClinVar.1
Natural variantiVAR_068043248P → L1 PublicationCorresponds to variant dbSNP:rs117843968EnsemblClinVar.1
Natural variantiVAR_049209250A → S. Corresponds to variant dbSNP:rs3745650EnsemblClinVar.1
Natural variantiVAR_068044263P → L in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs746808159EnsemblClinVar.1
Natural variantiVAR_003339278L → V2 PublicationsCorresponds to variant dbSNP:rs1054486EnsemblClinVar.1
Natural variantiVAR_068045282P → S1 PublicationCorresponds to variant dbSNP:rs45576136EnsemblClinVar.1
Natural variantiVAR_003340312T → I2 PublicationsCorresponds to variant dbSNP:rs1054487EnsemblClinVar.1
Natural variantiVAR_068046318S → L in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs774034389EnsemblClinVar.1
Natural variantiVAR_003341337R → Q2 PublicationsCorresponds to variant dbSNP:rs1133330EnsemblClinVar.1
Natural variantiVAR_068047339 – 342Missing in MANSA. 1 Publication4
Natural variantiVAR_068048352L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621980EnsemblClinVar.1
Natural variantiVAR_003342355T → P in MANSA. 1 PublicationCorresponds to variant dbSNP:rs864621992EnsemblClinVar.1
Natural variantiVAR_003343356P → R in MANSA; type I. 1 PublicationCorresponds to variant dbSNP:rs121434333EnsemblClinVar.1
Natural variantiVAR_068049379P → L in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621981EnsemblClinVar.1
Natural variantiVAR_068050390G → C in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621982EnsemblClinVar.1
Natural variantiVAR_003344402E → K in MANSA; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs370760999EnsemblClinVar.1
Natural variantiVAR_003345413N → S2 PublicationsCorresponds to variant dbSNP:rs35836657EnsemblClinVar.1
Natural variantiVAR_068051420G → V in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs772853856EnsemblClinVar.1
Natural variantiVAR_068052445H → Y in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621983EnsemblClinVar.1
Natural variantiVAR_068053451G → C in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs368899357EnsemblClinVar.1
Natural variantiVAR_068054453S → F in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621984EnsemblClinVar.1
Natural variantiVAR_026413453S → Y in MANSA. 2 PublicationsCorresponds to variant dbSNP:rs864621984EnsemblClinVar.1
Natural variantiVAR_068055457V → E in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621985EnsemblClinVar.1
Natural variantiVAR_049210481A → S1 PublicationCorresponds to variant dbSNP:rs34544747EnsemblClinVar.1
Natural variantiVAR_068056501C → S in MANSA; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs747721968EnsemblClinVar.1
Natural variantiVAR_068057565L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621986EnsemblClinVar.1
Natural variantiVAR_068058669P → L1 PublicationCorresponds to variant dbSNP:rs75029862EnsemblClinVar.1
Natural variantiVAR_003346714W → R in MANSA. 1 PublicationCorresponds to variant dbSNP:rs864621993EnsemblClinVar.1
Natural variantiVAR_068059745T → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621987EnsemblClinVar.1
Natural variantiVAR_003347750R → W in MANSA; type II. 1 PublicationCorresponds to variant dbSNP:rs80338680EnsemblClinVar.1
Natural variantiVAR_068060800G → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs398123456EnsemblClinVar.1
Natural variantiVAR_068061800G → W in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs398123456EnsemblClinVar.1
Natural variantiVAR_026414801G → D in MANSA; no residual enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621994EnsemblClinVar.1
Natural variantiVAR_003348809L → P in MANSA. 1 PublicationCorresponds to variant dbSNP:rs80338681EnsemblClinVar.1
Natural variantiVAR_068062815R → RHR in MANSA; results in less than 20% of wild-type enzyme activity. 1
Natural variantiVAR_068063891G → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621988EnsemblClinVar.1
Natural variantiVAR_068064892L → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621989EnsemblClinVar.1
Natural variantiVAR_068065916R → C in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621990EnsemblClinVar.1
Natural variantiVAR_068066916R → H in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs758765126EnsemblClinVar.1
Natural variantiVAR_068067950R → P in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs139041112EnsemblClinVar.1
Natural variantiVAR_068068956L → R in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs768233248EnsemblClinVar.1
Natural variantiVAR_0680691000F → S in MANSA; results in less than 20% of wild-type enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs864621991EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_047391343Missing in isoform 2. Curated1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
U05572 mRNA Translation: AAB03816.1 Different initiation.
U60266 mRNA Translation: AAC34130.1
U60899 U60898 Genomic DNA Translation: AAC51362.1
AC010422 Genomic DNA No translation available.
CH471106 Genomic DNA Translation: EAW84279.1
BC000736 mRNA Translation: AAH00736.1
U68567 mRNA Translation: AAC50812.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS32919.1 [O00754-1]
CCDS54224.1 [O00754-2]

NCBI Reference Sequences

More...RefSeqi		NP_000519.2, NM_000528.3 [O00754-1]
NP_001166969.1, NM_001173498.1 [O00754-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000221363; ENSP00000221363; ENSG00000104774 [O00754-2]
ENST00000456935; ENSP00000395473; ENSG00000104774 [O00754-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4125

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4125

UCSC genome browser

More...UCSCi		uc002mub.3, human [O00754-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Mendelian genes mannosidase, alpha, class 2B, member 1 (MAN2B1)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U05572 mRNA Translation: AAB03816.1 Different initiation.
U60266 mRNA Translation: AAC34130.1
U60899 U60898 Genomic DNA Translation: AAC51362.1
AC010422 Genomic DNA No translation available.
CH471106 Genomic DNA Translation: EAW84279.1
BC000736 mRNA Translation: AAH00736.1
U68567 mRNA Translation: AAC50812.1 Different initiation.
CCDSiCCDS32919.1 [O00754-1]
CCDS54224.1 [O00754-2]
RefSeqiNP_000519.2, NM_000528.3 [O00754-1]
NP_001166969.1, NM_001173498.1 [O00754-2]

3D structure databases

SMRiO00754
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi110298, 21 interactors
IntActiO00754, 5 interactors
STRINGi9606.ENSP00000395473

Chemistry databases

BindingDBiO00754
ChEMBLiCHEMBL4059

Protein family/group databases

CAZyiGH38, Glycoside Hydrolase Family 38

PTM databases

GlyConnecti775, 16 N-Linked glycans (6 sites)
GlyGeniO00754, 13 sites, 16 N-linked glycans (6 sites), 1 O-linked glycan (1 site)
iPTMnetiO00754
PhosphoSitePlusiO00754

Genetic variation databases

BioMutaiMAN2B1

Proteomic databases

CPTACiCPTAC-2225
EPDiO00754
jPOSTiO00754
MassIVEiO00754
MaxQBiO00754
PaxDbiO00754
PeptideAtlasiO00754
PRIDEiO00754
ProteomicsDBi33811
48018 [O00754-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		26063, 56 antibodies

The DNASU plasmid repository

More...DNASUi		4125

Genome annotation databases

EnsembliENST00000221363; ENSP00000221363; ENSG00000104774 [O00754-2]
ENST00000456935; ENSP00000395473; ENSG00000104774 [O00754-1]
GeneIDi4125
KEGGihsa:4125
UCSCiuc002mub.3, human [O00754-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4125
DisGeNETi4125

GeneCards: human genes, protein and diseases

More...GeneCardsi		MAN2B1
GeneReviewsiMAN2B1
HGNCiHGNC:6826, MAN2B1
HPAiENSG00000104774, Low tissue specificity
MalaCardsiMAN2B1
MIMi248500, phenotype
609458, gene
neXtProtiNX_O00754
OpenTargetsiENSG00000104774
Orphaneti309288, Alpha-mannosidosis, adult form
309282, Alpha-mannosidosis, infantile form
PharmGKBiPA30575
VEuPathDBiHostDB:ENSG00000104774

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1959, Eukaryota
GeneTreeiENSGT01040000240950
HOGENOMiCLU_004690_2_0_1
InParanoidiO00754
OMAiLEFIWRP
OrthoDBi172471at2759
PhylomeDBiO00754
TreeFamiTF313840

Enzyme and pathway databases

BRENDAi3.2.1.24, 2681
PathwayCommonsiO00754
ReactomeiR-HSA-6798695, Neutrophil degranulation
R-HSA-8853383, Lysosomal oligosaccharide catabolism

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		4125, 9 hits in 1019 CRISPR screens

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

More...ChiTaRSi		MAN2B1, human

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

More...GenomeRNAii		4125
PharosiO00754, Tchem

Protein Ontology

More...PROi		PR:O00754
RNActiO00754, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000104774, Expressed in testis and 121 other tissues
ExpressionAtlasiO00754, baseline and differential
GenevisibleiO00754, HS

Family and domain databases

Gene3Di1.20.1270.50, 2 hits
2.60.40.1180, 1 hit
3.20.110.10, 1 hit
InterProiView protein in InterPro
IPR011013, Gal_mutarotase_sf_dom
IPR041147, GH38_C
IPR011330, Glyco_hydro/deAcase_b/a-brl
IPR011682, Glyco_hydro_38_C
IPR015341, Glyco_hydro_38_cen
IPR037094, Glyco_hydro_38_cen_sf
IPR000602, Glyco_hydro_38_N
IPR027291, Glyco_hydro_38_N_sf
IPR028995, Glyco_hydro_57/38_cen_sf
IPR013780, Glyco_hydro_b
PfamiView protein in Pfam
PF09261, Alpha-mann_mid, 1 hit
PF17677, Glyco_hydro38C2, 1 hit
PF07748, Glyco_hydro_38C, 1 hit
PF01074, Glyco_hydro_38N, 1 hit
SMARTiView protein in SMART
SM00872, Alpha-mann_mid, 1 hit
SUPFAMiSSF74650, SSF74650, 1 hit
SSF88688, SSF88688, 1 hit
SSF88713, SSF88713, 1 hit

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 nameiMA2B1_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: O00754
Secondary accession number(s): G5E928
, O15330, Q16680, Q93094, Q9BW13
<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_and_isoforms">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: October 31, 2006
Last modified: September 29, 2021
This is version 213 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

Direct protein sequencing, Reference proteome

Documents

  1. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  2. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  3. Human entries with genetic variants
    List of human entries with genetic variants
  4. Human variants curated from literature reports
    Index of human variants curated from literature reports
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families
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