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MANBA mannosidase beta [ Homo sapiens (human) ]

Gene ID: 4126, updated on 24-Nov-2020

Summary

Official Symbol
MANBAprovided by HGNC
Official Full Name
mannosidase betaprovided by HGNC
Primary source
HGNC:HGNC:6831
See related
Ensembl:ENSG00000109323 MIM:609489
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

Genomic context

See MANBA in Genome Data Viewer
Location:
4q24
Exon count:
21
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (102630770..102760968, 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 uncharacterized LOC105377621 Neighboring gene zinc finger protein 705A pseudogene Neighboring gene nuclear factor kappa B subunit 1 Neighboring gene uncharacterized LOC105377347 Neighboring gene ribosomal protein L21 pseudogene 49 Neighboring gene mannosidase beta like pseudogene 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 uncharacterized LOC102723704 Neighboring gene ubiquitin conjugating enzyme E2 D3 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
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
beta-mannosidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
beta-mannosidase activity IDA
Inferred from Direct Assay
more info
PubMed 
beta-mannosidase activity TAS
Traceable Author Statement
more info
 
mannose binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular protein modification process NAS
Non-traceable Author Statement
more info
PubMed 
glycoprotein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycoprotein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
oligosaccharide catabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
azurophil granule membrane TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
lysosomal lumen TAS
Traceable Author Statement
more info
 
lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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_016863692.1
XP_016863693.1
XP_016863694.1
XP_024309816.1
XP_024309817.1

NCBI Reference Sequences (RefSeq)

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
    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: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017008204.2XP_016863693.1  beta-mannosidase isoform X3

  2. XM_017008203.1XP_016863692.1  beta-mannosidase isoform X2

    Conserved Domains (1) summary
    cl27651
    Location:1573
    Glyco_hydro_2; Glycosyl hydrolases family 2
  3. XM_024454048.1XP_024309816.1  beta-mannosidase isoform X1

    Conserved Domains (2) summary
    pfam14914
    Location:234
    LRRC37AB_C; LRRC37A/B like protein 1 C-terminal domain
    cl27651
    Location:40669
    Glyco_hydro_2; Glycosyl hydrolases family 2
  4. XM_024454049.1XP_024309817.1  beta-mannosidase isoform X2

    Conserved Domains (1) summary
    cl27651
    Location:1573
    Glyco_hydro_2; Glycosyl hydrolases family 2
  5. XM_017008205.2XP_016863694.1  beta-mannosidase isoform X4

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