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    MAN2B1 mannosidase alpha class 2B member 1 [ Homo sapiens (human) ]

    Gene ID: 4125, updated on 4-Jun-2017
    Official Symbol
    MAN2B1provided by HGNC
    Official Full Name
    mannosidase alpha class 2B member 1provided by HGNC
    Primary source
    HGNC:HGNC:6826
    See related
    Ensembl:ENSG00000104774 MIM:609458; Vega:OTTHUMG00000156397
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MANB; LAMAN
    Summary
    This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
    Orthologs
    Location:
    19p13.13
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (12646508..12666777, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (12757322..12777591, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372279 Neighboring gene ribosomal protein L10 pseudogene 16 Neighboring gene WD repeat domain 83 opposite strand Neighboring gene WD repeat domain 83 Neighboring gene deoxyhypusine synthase

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Deficiency of alpha-mannosidase
    MedGen: C0024748 OMIM: 248500 GeneReviews: Alpha-Mannosidosis
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide study of percent emphysema on computed tomography in the general population. The Multi-Ethnic Study of Atherosclerosis Lung/SNP Health Association Resource Study.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Specific alterations of the N-linked carbohydrates on HIV-1 gp120 and gp41 by glucosidases and mannosidase inhibitors can enhance mannose-binding lectin (MBL)-mediated neutralization of virus by strengthening the interaction of HIV-1 with MBL PubMed
    env HIV-1 gp120 N-linked oligosaccharides are processed by manosidase I and II in the Golgi complex PubMed
    Envelope surface glycoprotein gp160, precursor env Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus PubMed
    Envelope transmembrane glycoprotein gp41 env Mannose-containing, N-linked oligosaccharide side-chains of HIV-1 gp41 are involved in the initial stage of infection by HIV-1; glycosylation inhibitors block virus-cell and cell-cell fusion and release of the virions PubMed

    Go to the HIV-1, Human Interaction Database

    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Lysosomal oligosaccharide catabolism, organism-specific biosystem (from REACTOME)
      Lysosomal oligosaccharide catabolism, organism-specific biosystemN-Glycosylation is one of the most common co- and posttranslational modifications of eukaryotic proteins occurring in the ER lumen. N-glycosylation plays pivotal roles in protein folding and intra- o...
    • Lysosome, organism-specific biosystem (from KEGG)
      Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Lysosome, conserved biosystem (from KEGG)
      Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
      Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • Other glycan degradation, organism-specific biosystem (from KEGG)
      Other glycan degradation, organism-specific biosystem
      Other glycan degradation
    • Other glycan degradation, conserved biosystem (from KEGG)
      Other glycan degradation, conserved biosystem
      Other glycan degradation
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    alpha-mannosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    alpha-mannosidase activity TAS
    Traceable Author Statement
    more info
     
    carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cellular protein modification process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mannose metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    oligosaccharide catabolic process TAS
    Traceable Author Statement
    more info
     
    protein deglycosylation TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosomal lumen TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    lysosomal alpha-mannosidase
    Names
    lysosomal acid alpha-mannosidase
    mannosidase alpha-B
    mannosidase, alpha B, lysosomal
    NP_000519.2
    NP_001166969.1
    XP_005259970.1
    XP_016882307.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008318.1 RefSeqGene

      Range
      5001..25270
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000528.3NP_000519.2  lysosomal alpha-mannosidase isoform 1 precursor

      See identical proteins and their annotated locations for NP_000519.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC000736, BM982008, DB237901
      Consensus CDS
      CCDS32919.1
      UniProtKB/Swiss-Prot
      O00754
      Related
      ENSP00000395473.2, OTTHUMP00000209823, ENST00000456935.6, OTTHUMT00000344062
      Conserved Domains (4) summary
      PLN02701
      Location:631000
      PLN02701; alpha-mannosidase
      cd10810
      Location:63341
      GH38N_AMII_LAM_like; N-terminal catalytic domain of lysosomal alpha-mannosidase and similar proteins; glycoside hydrolase family 38 (GH38)
      smart00872
      Location:387465
      Alpha-mann_mid; Alpha mannosidase, middle domain
      pfam07748
      Location:5101000
      Glyco_hydro_38C; Glycosyl hydrolases family 38 C-terminal domain
    2. NM_001173498.1NP_001166969.1  lysosomal alpha-mannosidase isoform 2 precursor

      See identical proteins and their annotated locations for NP_001166969.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a CAG copy at an splice site in the CDS, as compared to variant 1. The resulting isoform (2) lacks an internal Q, as compared to isoform 1.
      Source sequence(s)
      AK291572, BM982008, DB237901, U05572
      Consensus CDS
      CCDS54224.1
      UniProtKB/Swiss-Prot
      O00754
      UniProtKB/TrEMBL
      A8K6A7
      Related
      ENSP00000221363.4, OTTHUMP00000209824, ENST00000221363.8, OTTHUMT00000344064
      Conserved Domains (4) summary
      PLN02701
      Location:63999
      PLN02701; alpha-mannosidase
      cd10810
      Location:63341
      GH38N_AMII_LAM_like; N-terminal catalytic domain of lysosomal alpha-mannosidase and similar proteins; glycoside hydrolase family 38 (GH38)
      smart00872
      Location:386464
      Alpha-mann_mid; Alpha mannosidase, middle domain
      pfam07748
      Location:509999
      Glyco_hydro_38C; Glycosyl hydrolases family 38 C-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      12646508..12666777 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005259913.1XP_005259970.1  lysosomal alpha-mannosidase isoform X1

      Conserved Domains (4) summary
      PLN02701
      Location:631001
      PLN02701; alpha-mannosidase
      cd10810
      Location:63341
      GH38N_AMII_LAM_like; N-terminal catalytic domain of lysosomal alpha-mannosidase and similar proteins; glycoside hydrolase family 38 (GH38)
      smart00872
      Location:388466
      Alpha-mann_mid; Alpha mannosidase, middle domain
      pfam07748
      Location:5111001
      Glyco_hydro_38C; Glycosyl hydrolases family 38 C-terminal domain
    2. XM_017026818.1XP_016882307.1  lysosomal alpha-mannosidase isoform X2

      Conserved Domains (2) summary
      smart00872
      Location:2098
      Alpha-mann_mid; Alpha mannosidase, middle domain
      pfam07748
      Location:143633
      Glyco_hydro_38C; Glycosyl hydrolases family 38 C-terminal domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      12757826..12778096 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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