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

    Gene ID: 4125, updated on 10-Dec-2024

    Summary

    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; AllianceGenome:HGNC:6826
    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]
    Expression
    Ubiquitous expression in spleen (RPKM 48.9), appendix (RPKM 36.3) and 25 other tissues See more
    Orthologs
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    Genomic context

    See MAN2B1 in Genome Data Viewer
    Location:
    19p13.13
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (12646512..12666742, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (12771019..12791240, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (12757326..12777556, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 791 Neighboring gene uncharacterized LOC105372279 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12750843-12751363 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:12754106-12755305 Neighboring gene ribosomal protein L10 pseudogene 16 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14063 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10155 Neighboring gene MPRA-validated peak3365 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12775226-12776174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12776175-12777122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14069 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:12781177-12781850 Neighboring gene CRISPRi-FlowFISH-validated DHPS regulatory element Neighboring gene WD repeat domain 83 opposite strand Neighboring gene WD repeat domain 83 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14071 Neighboring gene deoxyhypusine synthase Neighboring gene CRISPRi-FlowFISH-validated WDR83OS regulatory elements

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (14 hits/1274 screens)

    Associated conditions

    EBI 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.
    EBI GWAS Catalog

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-mannosidase activity  
    enables carbohydrate binding  
    enables metal ion binding  
    Component Evidence Code Pubs
    located_in azurophil granule lumen  
    located_in extracellular exosome PubMed 
    located_in extracellular region  
    located_in extracellular space PubMed 
    located_in intracellular membrane-bounded organelle  
    located_in lysosomal lumen  
    is_active_in lysosome  
    located_in nucleoplasm  

    General protein information

    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_047294797.1
    XP_054177008.1
    XP_054177009.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5036..25266
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000528.4 → NP_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, DB237901
      Consensus CDS
      CCDS32919.1
      UniProtKB/Swiss-Prot
      G5E928, O00754, O15330, Q16680, Q93094, Q9BW13
      UniProtKB/TrEMBL
      A8K6A7
      Related
      ENSP00000395473.2, ENST00000456935.7
      Conserved Domains (4) summary
      PLN02701
      Location:63 → 1000
      PLN02701; alpha-mannosidase
      cd10810
      Location:63 → 341
      GH38N_AMII_LAM_like; N-terminal catalytic domain of lysosomal alpha-mannosidase and similar proteins; glycoside hydrolase family 38 (GH38)
      smart00872
      Location:387 → 465
      Alpha-mann_mid; Alpha mannosidase, middle domain
      pfam07748
      Location:510 → 1000
      Glyco_hydro_38C; Glycosyl hydrolases family 38 C-terminal domain
    2. NM_001173498.2 → NP_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/TrEMBL
      A8K6A7
      Related
      ENSP00000221363.4, ENST00000221363.9
      Conserved Domains (4) summary
      PLN02701
      Location:63 → 999
      PLN02701; alpha-mannosidase
      cd10810
      Location:63 → 341
      GH38N_AMII_LAM_like; N-terminal catalytic domain of lysosomal alpha-mannosidase and similar proteins; glycoside hydrolase family 38 (GH38)
      smart00872
      Location:386 → 464
      Alpha-mann_mid; Alpha mannosidase, middle domain
      pfam07748
      Location:509 → 999
      Glyco_hydro_38C; Glycosyl hydrolases family 38 C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      12646512..12666742 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005259913.3 → XP_005259970.1  lysosomal alpha-mannosidase isoform X1

      UniProtKB/TrEMBL
      A8K6A7
      Conserved Domains (4) summary
      PLN02701
      Location:63 → 1001
      PLN02701; alpha-mannosidase
      cd10810
      Location:63 → 341
      GH38N_AMII_LAM_like; N-terminal catalytic domain of lysosomal alpha-mannosidase and similar proteins; glycoside hydrolase family 38 (GH38)
      smart00872
      Location:388 → 466
      Alpha-mann_mid; Alpha mannosidase, middle domain
      pfam07748
      Location:511 → 1001
      Glyco_hydro_38C; Glycosyl hydrolases family 38 C-terminal domain
    2. XM_047438841.1 → XP_047294797.1  lysosomal alpha-mannosidase isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      12771019..12791240 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321033.1 → XP_054177008.1  lysosomal alpha-mannosidase isoform X1

      UniProtKB/TrEMBL
      A8K6A7
    2. XM_054321034.1 → XP_054177009.1  lysosomal alpha-mannosidase isoform X2

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