MANBA mannosidase beta [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 4q24

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (102630770..102760968, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (105944714..106074870, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (103551927..103682125, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel genetic variant potentially altering the expression of MANBA in the cerebellum associated with attention deficit hyperactivity disorder in Han Chinese children.
Title: A novel genetic variant potentially altering the expression of MANBA in the cerebellum associated with attention deficit hyperactivity disorder in Han Chinese children.
Impact of Multiple Sclerosis Risk Polymorphism rs7665090 on MANBA Activity, Lysosomal Endocytosis, and Lymphocyte Activation.
Title: Impact of Multiple Sclerosis Risk Polymorphism rs7665090 on MANBA Activity, Lysosomal Endocytosis, and Lymphocyte Activation.
Kidney disease genetic risk variants alter lysosomal beta-mannosidase (MANBA) expression and disease severity.
Title: Kidney disease genetic risk variants alter lysosomal beta-mannosidase (MANBA) expression and disease severity.
independent putative primary functional variants in NFKB1/MANBA and showed the distinct molecular mechanism by which each putative primary functional variant conferred susceptibility to Primary biliary cholangitis, were identified.
Title: NFKB1 and MANBA Confer Disease Susceptibility to Primary Biliary Cholangitis via Independent Putative Primary Functional Variants.
The present analysis of the c.1922G>A MANBA mutation underlines the lack of genotype-phenotype correlation in beta-mannosidosis
Title: A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.
The MANBA genotypes for a polymorphic CA repeat were related to colorectal cancer risk in a Swedish population but not a Chinese one. In the Swedish population, individuals with < 22 CAs/< 22 CAs had a significantly increased risk for CRC.
Title: MANBA polymorphism was related to increased risk of colorectal cancer in Swedish but not in Chinese populations.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G62492 (e-PCR)
- UniSTS:139550

SHGC-16519 (e-PCR)
- UniSTS:60472

A001Z33 (e-PCR)
- UniSTS:56958

D4S1070 (e-PCR)
- UniSTS:19588

RH36011 (e-PCR)
- UniSTS:62879

SHGC-149558 (e-PCR)
- UniSTS:177079

D4S3043 (e-PCR), detects polymorphism
- UniSTS:36565

2010 (e-PCR)
- UniSTS:27886

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D-mannose binding	IEA Inferred from Electronic Annotation more info
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

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

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Preferred Names: beta-mannosidase

Names: beta-mannosidase A; lysosomal beta A mannosidase; mannanase; mannase; mannosidase, beta A, lysosomal

NP_005899.3

EC 3.2.1.25

XP_047271648.1

EC 3.2.1.25

XP_047271649.1

EC 3.2.1.25

XP_047271650.1

EC 3.2.1.25

XP_054206004.1

EC 3.2.1.25

XP_054206005.1

EC 3.2.1.25

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

NG_012804.2 RefSeqGene

Range

5027..135225

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005908.4 → NP_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:24 → 694

LacZ; Beta-galactosidase/beta-glucuronidase [Carbohydrate transport and metabolism]

pfam02837
Location:80 → 143

Glyco_hydro_2_N; Glycosyl hydrolases family 2, sugar binding domain

cl23725
Location:343 → 457

Glyco_hydro_1; Glycosyl hydrolase family 1