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Aliases for MANBA Gene

Aliases for MANBA Gene

  • Mannosidase, Beta A, Lysosomal 2 3
  • MANB1 3 4 6
  • Lysosomal Beta A Mannosidase 3 4
  • EC 3.2.1.25 4 63
  • Mannanase 3 4
  • Mannase 3 4
  • Beta-Mannosidase 3

External Ids for MANBA Gene

Previous GeneCards Identifiers for MANBA Gene

  • GC04M103951
  • GC04M104011
  • GC04M103909
  • GC04M103771
  • GC04M103552
  • GC04M099288

Summaries for MANBA Gene

Entrez Gene Summary for MANBA Gene

  • 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]

GeneCards Summary for MANBA Gene

MANBA (Mannosidase, Beta A, Lysosomal) is a Protein Coding gene. Diseases associated with MANBA include mannosidosis, beta and mannosidosis. Among its related pathways are Lysosome and Other glycan degradation. GO annotations related to this gene include mannose binding and beta-mannosidase activity.

UniProtKB/Swiss-Prot for MANBA Gene

  • Exoglycosidase that cleaves the single beta-linked mannose residue from the non-reducing end of all N-linked glycoprotein oligosaccharides

Gene Wiki entry for MANBA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MANBA Gene

Genomics for MANBA Gene

Regulatory Elements for MANBA Gene

Genomic Location for MANBA Gene

Start:
102,631,486 bp from pter
End:
102,760,994 bp from pter
Size:
129,509 bases
Orientation:
Minus strand

Genomic View for MANBA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MANBA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MANBA Gene

Proteins for MANBA Gene

  • Protein details for MANBA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00462-MANBA_HUMAN
    Recommended name:
    Beta-mannosidase
    Protein Accession:
    O00462
    Secondary Accessions:
    • Q96BC3
    • Q9NYX9

    Protein attributes for MANBA Gene

    Size:
    879 amino acids
    Molecular mass:
    100895 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MANBA Gene

Proteomics data for MANBA Gene at MOPED

Post-translational modifications for MANBA Gene

  • Glycosylation at Asn28, Asn35, Asn77, Asn280, Asn284, Asn297, Asn302, and Asn763
  • Modification sites at PhosphoSitePlus

Other Protein References for MANBA Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains for MANBA Gene

Suggested Antigen Peptide Sequences for MANBA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00462

UniProtKB/Swiss-Prot:

MANBA_HUMAN :
  • O00462
Family:
  • Belongs to the glycosyl hydrolase 2 family.
genes like me logo Genes that share domains with MANBA: view

No data available for Gene Families for MANBA Gene

Function for MANBA Gene

Molecular function for MANBA Gene

GENATLAS Biochemistry: mannosidase beta A isoform,100kDa,lysosomal,expressed in pancreas,kidney,placenta
UniProtKB/Swiss-Prot CatalyticActivity: Hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D-mannosides
UniProtKB/Swiss-Prot Function: Exoglycosidase that cleaves the single beta-linked mannose residue from the non-reducing end of all N-linked glycoprotein oligosaccharides

Enzyme Numbers (IUBMB) for MANBA Gene

Gene Ontology (GO) - Molecular Function for MANBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds --
GO:0004567 beta-mannosidase activity IEA --
genes like me logo Genes that share ontologies with MANBA: view
genes like me logo Genes that share phenotypes with MANBA: view

Animal Models for MANBA Gene

MGI Knock Outs for MANBA:

miRNA for MANBA Gene

miRTarBase miRNAs that target MANBA

No data available for Transcription Factor Targeting and HOMER Transcription for MANBA Gene

Localization for MANBA Gene

Subcellular locations from UniProtKB/Swiss-Prot for MANBA Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MANBA Gene COMPARTMENTS Subcellular localization image for MANBA gene
Compartment Confidence
lysosome 5
vacuole 5
extracellular 2
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MANBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with MANBA: view

Pathways for MANBA Gene

SuperPathways for MANBA Gene

genes like me logo Genes that share pathways with MANBA: view

Pathways by source for MANBA Gene

2 KEGG pathways for MANBA Gene

UniProtKB/Swiss-Prot O00462-MANBA_HUMAN

  • Pathway: Glycan metabolism; N-glycan degradation

Interacting Proteins for MANBA Gene

Gene Ontology (GO) - Biological Process for MANBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IBA --
GO:0006464 cellular protein modification process NAS 9384606
GO:0006516 glycoprotein catabolic process IEA --
GO:0046355 mannan catabolic process IEA --
genes like me logo Genes that share ontologies with MANBA: view

Compounds for MANBA Gene

(4) Novoseek inferred chemical compound relationships for MANBA Gene

Compound -log(P) Hits PubMed IDs
mannan 75.4 2
mannose 40.4 2
polysaccharide 30.2 1
cellulose 23.9 1
genes like me logo Genes that share compounds with MANBA: view

Transcripts for MANBA Gene

Unigene Clusters for MANBA Gene

Mannosidase, beta A, lysosomal:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MANBA Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b · 18c
SP1: - -
SP2: -
SP3:

Relevant External Links for MANBA Gene

GeneLoc Exon Structure for
MANBA
ECgene alternative splicing isoforms for
MANBA

Expression for MANBA Gene

mRNA expression in normal human tissues for MANBA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MANBA Gene

SOURCE GeneReport for Unigene cluster for MANBA Gene Hs.480415

genes like me logo Genes that share expressions with MANBA: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MANBA Gene

Orthologs for MANBA Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MANBA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MANBA 35
  • 99.36 (n)
  • 99.32 (a)
MANBA 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MANBA 35
  • 81.65 (n)
  • 75.63 (a)
MANBA 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MANBA 35
  • 85.41 (n)
  • 80.99 (a)
MANBA 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Manba 35
  • 78.1 (n)
  • 75.75 (a)
Manba 16
Manba 36
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MANBA 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MANBA 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Manba 35
  • 79.26 (n)
  • 75.35 (a)
chicken
(Gallus gallus)
Aves MANBA 35
  • 71.6 (n)
  • 70.14 (a)
MANBA 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia manba 35
  • 63.04 (n)
  • 59.88 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100331766 35
  • 59.45 (n)
  • 55.97 (a)
manba 36
  • 53 (a)
OneToMany
manba 36
  • 53 (a)
OneToMany
zgc55493 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000143 35
  • 45.16 (n)
  • 37.89 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12582 35
  • 46.64 (n)
  • 39.07 (a)
CG12582 36
  • 34 (a)
OneToOne
CG12582 37
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea C33G3.4 35
  • 46.75 (n)
  • 36.3 (a)
C33G3.4 36
  • 32 (a)
OneToOne
C33G3.4 37
  • 33 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00890 35
  • 43.19 (n)
  • 32.54 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.393 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToOne
Species with no ortholog for MANBA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MANBA Gene

ENSEMBL:
Gene Tree for MANBA (if available)
TreeFam:
Gene Tree for MANBA (if available)

Paralogs for MANBA Gene

No data available for Paralogs for MANBA Gene

Variants for MANBA Gene

Sequence variations from dbSNP and Humsavar for MANBA Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs4013 -- 102,631,656(+) TATTC(C/T)GTATT utr-variant-3-prime
rs4019 -- 102,631,673(+) AGCTA(A/G)CTGTG utr-variant-3-prime
rs150900 -- 102,704,026(+) ggagg(C/T)ggagg intron-variant
rs170563 -- 102,685,515(-) TTTTC(A/G)TTGTA intron-variant
rs170564 -- 102,687,151(-) agtta(A/G)gaatg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MANBA Gene

Variant ID Type Subtype PubMed ID
nsv830020 CNV Loss 17160897
nsv822674 CNV Gain 20364138
dgv889n67 CNV Gain 20364138
nsv4444 CNV Insertion 18451855

Relevant External Links for MANBA Gene

HapMap Linkage Disequilibrium report
MANBA
Human Gene Mutation Database (HGMD)
MANBA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MANBA Gene

Disorders for MANBA Gene

MalaCards: The human disease database

MalaCards: The human disease database. (4) Diseases for MANBA Gene including...

Search for MANBA Gene in MalaCards »

(1) OMIM Diseases for MANBA Gene (609489)

UniProtKB/Swiss-Prot

MANBA_HUMAN
  • Note=Defects in MANBA are the cause of a mild disorder that affects peripheral and central nervous system myelin.
  • Mannosidosis, beta A, lysosomal (MANSB) [MIM:248510]: An autosomal recessive lysosomal storage disease of glycoprotein catabolism. Clinical features are heterogeneous with a wide range of symptoms and age of onset. The disease is associated with a range of neurological involvement, including various degrees of mental retardation in most of the cases, hearing loss and speech impairment, hypotonia, epilepsy and peripheral neuropathy. Affected individuals have a profound reduction in beta A mannosidase activity in plasma, fibroblasts and leukocytes. {ECO:0000269 PubMed:9384606}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for MANBA Gene

Genatlas disease for MANBA Gene

mannosidosis beta,characterized by a range of neurological involvement with mental retardation,angiokeratoma,facial dysmorphism,skeletal abnormalities

Relevant External Links for MANBA

Genetic Association Database (GAD)
MANBA
Human Genome Epidemiology (HuGE) Navigator
MANBA
genes like me logo Genes that share disorders with MANBA: view

Publications for MANBA Gene

  1. MANBA polymorphism was related to increased risk of colorectal cancer in Swedish but not in Chinese populations. (PMID: 17899454) Gao J. … Sun X.F. (Acta Oncol 2008) 3 23 48
  2. A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant. (PMID: 19728872) Sabourdy F. … Levade T. (BMC Med. Genet. 2009) 3 23
  3. Molecular cloning and characterization of bovine beta-mannosidase. (PMID: 7876128) Chen H. … Friderici K.H. (J. Biol. Chem. 1995) 2 3
  4. Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis. (PMID: 9384606) Alkhayat A.H. … Friderici K.H. (Hum. Mol. Genet. 1998) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for MANBA Gene

Sources for MANBA Gene

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