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MANBA mannosidase beta [ Homo sapiens (human) ]

Gene ID: 4126, updated on 8-May-2016
Official Symbol
MANBAprovided by HGNC
Official Full Name
mannosidase betaprovided by HGNC
Primary source
HGNC:HGNC:6831
See related
Ensembl:ENSG00000109323 HPRD:02008; MIM:609489; Vega:OTTHUMG00000131123
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]
Orthologs
Location:
4q24
Exon count:
19
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 4 NC_000004.12 (102631486..102760994, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (103552643..103682151, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene nuclear factor kappa B subunit 1 Neighboring gene uncharacterized LOC101929401 Neighboring gene uncharacterized LOC105377347 Neighboring gene ribosomal protein L21 pseudogene 49 Neighboring gene mannosidase beta like pseudogene Neighboring gene WD repeat domain 12 pseudogene Neighboring gene keratin 8 pseudogene 46 Neighboring gene uncharacterized LOC102723704 Neighboring gene ubiquitin conjugating enzyme E2 D3 Neighboring gene uncharacterized LOC105377348

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Beta-D-mannosidosis
MedGen: C0342849 OMIM: 248510 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

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

  • 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...
  • 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
beta-mannosidase activity TAS
Traceable Author Statement
more info
 
mannose binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
carbohydrate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
cellular protein modification process NAS
Non-traceable Author Statement
more info
PubMed 
oligosaccharide catabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
 
lysosomal lumen TAS
Traceable Author Statement
more info
 
Preferred Names
beta-mannosidase
Names
beta-mannosidase A
lysosomal beta A mannosidase
mannanase
mannase
mannosidase, beta A, lysosomal
NP_005899.3

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_012804.1 RefSeqGene

    Range
    5001..134509
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_005899.3

    Status: REVIEWED

    Source sequence(s)
    AF213884, AI079197, AU132611, BC015743
    Consensus CDS
    CCDS3658.1
    UniProtKB/Swiss-Prot
    O00462
    Related
    ENSP00000226578, OTTHUMP00000161766, ENST00000226578, OTTHUMT00000253803
    Conserved Domains (3) summary
    COG3250
    Location:24694
    LacZ; Beta-galactosidase/beta-glucuronidase [Carbohydrate transport and metabolism]
    pfam02837
    Location:79143
    Glyco_hydro_2_N; Glycosyl hydrolases family 2, sugar binding domain
    cl22871
    Location:343489
    Glyco_hydro_2_C; Glycosyl hydrolases family 2, TIM barrel domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p2 Primary Assembly

    Range
    102631486..102760994 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531965.1XP_011530267.1  

    Conserved Domains (1) summary
    cl22871
    Location:41187
    Glyco_hydro_2_C; Glycosyl hydrolases family 2, TIM barrel domain
  2. XM_011531966.1XP_011530268.1  

    Conserved Domains (1) summary
    COG3250
    Location:1279
    LacZ; Beta-galactosidase/beta-glucuronidase [Carbohydrate transport and metabolism]

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 Alternate CHM1_1.1

    Range
    103528967..103658610 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)