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    MANBA mannosidase beta [ Homo sapiens (human) ]

    Gene ID: 4126, updated on 3-Apr-2024

    Summary

    Official Symbol
    MANBAprovided by HGNC
    Official Full Name
    mannosidase betaprovided by HGNC
    Primary source
    HGNC:HGNC:6831
    See related
    Ensembl:ENSG00000109323 MIM:609489; AllianceGenome:HGNC:6831
    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
    MANB1
    Summary
    This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in placenta (RPKM 8.4), thyroid (RPKM 6.6) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See MANBA in Genome Data Viewer
    Location:
    4q24
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (102630770..102760968, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (105944714..106074870, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (103551927..103682125, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene nuclear factor kappa B subunit 1 Neighboring gene uncharacterized LOC124900742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21754 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15598 Neighboring gene uncharacterized LOC105377347 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:103521788-103522987 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:103558780-103559280 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:103559281-103559781 Neighboring gene ribosomal protein L21 pseudogene 49 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21755 Neighboring gene Sharpr-MPRA regulatory region 2283 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:103650639-103651633 Neighboring gene mannosidase beta like pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21756 Neighboring gene leucine rich repeat containing 37 member A15, pseudogene Neighboring gene WD repeat domain 12 pseudogene Neighboring gene keratin 8 pseudogene 46 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:103675856-103676033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21757 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15599 Neighboring gene uncharacterized LOC102723704 Neighboring gene uncharacterized LOC124900743 Neighboring gene ubiquitin conjugating enzyme E2 D3 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:103746355-103747554 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:103748137-103748698 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:103748699-103749260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21760 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21761 Neighboring gene UBE2D3 antisense RNA 1 Neighboring gene RNA, U7 small nuclear 151 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Beta-D-mannosidosis
    MedGen: C4048196 OMIM: 248510 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of mannosidase, beta A (MANBA, lysosomal) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-mannosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables beta-mannosidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables beta-mannosidase activity TAS
    Traceable Author Statement
    more info
     
    enables mannose binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in glycoprotein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glycoprotein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in oligosaccharide catabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in protein modification process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in azurophil granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in lysosomal lumen TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    beta-mannosidase
    Names
    beta-mannosidase A
    lysosomal beta A mannosidase
    mannanase
    mannase
    mannosidase, beta A, lysosomal
    NP_005899.3
    XP_047271648.1
    XP_047271649.1
    XP_047271650.1
    XP_054206004.1
    XP_054206005.1

    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_012804.2 RefSeqGene

      Range
      5027..135225
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005908.4NP_005899.3  beta-mannosidase precursor

      See identical proteins and their annotated locations for NP_005899.3

      Status: REVIEWED

      Source sequence(s)
      AF213884, AI079197, BC015743
      Consensus CDS
      CCDS3658.1
      UniProtKB/Swiss-Prot
      O00462, Q96BC3, Q9NYX9
      UniProtKB/TrEMBL
      A8K6D3
      Related
      ENSP00000495247.1, ENST00000647097.2
      Conserved Domains (3) summary
      COG3250
      Location:24694
      LacZ; Beta-galactosidase/beta-glucuronidase [Carbohydrate transport and metabolism]
      pfam02837
      Location:80143
      Glyco_hydro_2_N; Glycosyl hydrolases family 2, sugar binding domain
      cl23725
      Location:343457
      Glyco_hydro_1; Glycosyl hydrolase family 1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      102630770..102760968 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047415692.1XP_047271648.1  beta-mannosidase isoform X1

    2. XM_047415693.1XP_047271649.1  beta-mannosidase isoform X1

    3. XM_047415694.1XP_047271650.1  beta-mannosidase isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      105944714..106074870 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350029.1XP_054206004.1  beta-mannosidase isoform X1

    2. XM_054350030.1XP_054206005.1  beta-mannosidase isoform X2