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

Gene ID: 4125, updated on 8-Jul-2021

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
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
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (12646511..12666742, complement)
105.20201022 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 ribosomal protein L10 pseudogene 16 Neighboring gene CRISPRi-FlowFISH-validated DHPS regulatory element Neighboring gene WD repeat domain 83 opposite strand Neighboring gene WD repeat domain 83 Neighboring gene deoxyhypusine synthase

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
Deficiency of alpha-mannosidase
MedGen: C0024748 OMIM: 248500 GeneReviews: Alpha-Mannosidosis
Compare labs
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.
GeneReviews: Not available

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables alpha-mannosidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in cellular protein modification process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in mannose metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in protein deglycosylation TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in azurophil granule lumen TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in lysosomal lumen TAS
Traceable Author Statement
more info
 
is_active_in lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in vacuolar membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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_024307286.1

NCBI Reference Sequences (RefSeq)

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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_000528.4NP_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
    O00754
    Related
    ENSP00000395473.2, ENST00000456935.7
    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_001173498.2NP_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, ENST00000221363.8
    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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    12646511..12666742 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259913.2XP_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_024451518.1XP_024307286.1  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
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