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Aliases for MAN1B1 Gene

Aliases for MAN1B1 Gene

  • Mannosidase, Alpha, Class 1B, Member 1 2 3
  • Endoplasmic Reticulum Mannosyl-Oligosaccharide 1,2-Alpha-Mannosidase 1 2 3
  • Man9GlcNAc2-Specific Processing Alpha-Mannosidase 2 3
  • ER Alpha 1,2-Mannosidase 2 3
  • ERMAN1 3 4
  • Man9GlcNAc2-Specific-Processing Alpha-Mannosidase 4
  • Endoplasmic Reticulum Alpha-Mannosidase 1 2
  • Mannosidase Alpha Class 1B Member 1 4
  • ER Alpha-1,2-Mannosidase 4
  • Alpha 1,2-Mannosidase 2
  • ER Mannosidase 1 4
  • EC 3.2.1.113 4
  • MANA-ER 3
  • MRT15 3

External Ids for MAN1B1 Gene

Previous GeneCards Identifiers for MAN1B1 Gene

  • GC09U990101
  • GC09P131671
  • GC09P133422
  • GC09P135338
  • GC09P137257
  • GC09P139101
  • GC09P139981
  • GC09P109441

Summaries for MAN1B1 Gene

Entrez Gene Summary for MAN1B1 Gene

  • This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan trimming to Man5-6GlcNAc2 in the endoplasmic-reticulum-associated degradation pathway. Mutations in this gene cause autosomal-recessive intellectual disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Dec 2011]

GeneCards Summary for MAN1B1 Gene

MAN1B1 (Mannosidase, Alpha, Class 1B, Member 1) is a Protein Coding gene. Diseases associated with MAN1B1 include man1b1-cdg and mental retardation, autosomal recessive 15. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism. GO annotations related to this gene include calcium ion binding and mannosyl-oligosaccharide 1,2-alpha-mannosidase activity. An important paralog of this gene is MAN1C1.

UniProtKB/Swiss-Prot for MAN1B1 Gene

  • Involved in glycoprotein quality control targeting of misfolded glycoproteins for degradation. It primarily trims a single alpha-1,2-linked mannose residue from Man(9)GlcNAc(2) to produce Man(8)GlcNAc(2), but at high enzyme concentrations, as found in the ER quality control compartment (ERQC), it further trims the carbohydrates to Man(5-6)GlcNAc(2).

Tocris Summary for MAN1B1 Gene

  • Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic linkages, liberating alpha-glucose and beta-glucose.

Gene Wiki entry for MAN1B1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAN1B1 Gene

Genomics for MAN1B1 Gene

Regulatory Elements for MAN1B1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MAN1B1 Gene

Chromosome:
9
Start:
137,086,862 bp from pter
End:
137,109,187 bp from pter
Size:
22,326 bases
Orientation:
Plus strand

Genomic View for MAN1B1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MAN1B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAN1B1 Gene

Proteins for MAN1B1 Gene

  • Protein details for MAN1B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKM7-MA1B1_HUMAN
    Recommended name:
    Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase
    Protein Accession:
    Q9UKM7
    Secondary Accessions:
    • Q5VSG3
    • Q9BRS9
    • Q9Y5K7

    Protein attributes for MAN1B1 Gene

    Size:
    699 amino acids
    Molecular mass:
    79580 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MAN1B1 Gene

neXtProt entry for MAN1B1 Gene

Proteomics data for MAN1B1 Gene at MOPED

Post-translational modifications for MAN1B1 Gene

  • Glycosylation at Ser 174, Thr 219, Ser 223, Thr 242, Thr 381, and Thr 508
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for MAN1B1 Gene

Domains & Families for MAN1B1 Gene

Gene Families for MAN1B1 Gene

Protein Domains for MAN1B1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UKM7

UniProtKB/Swiss-Prot:

MA1B1_HUMAN :
  • Belongs to the glycosyl hydrolase 47 family.
Family:
  • Belongs to the glycosyl hydrolase 47 family.
genes like me logo Genes that share domains with MAN1B1: view

Function for MAN1B1 Gene

Molecular function for MAN1B1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.4 mM for Man9GlcNAc2 {ECO:0000269 PubMed:10521544}; pH dependence: Optimum pH is between 6.5 and 6.9. {ECO:0000269 PubMed:10521544};
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of the terminal (1->2)-linked alpha-D-mannose residues in the oligo-mannose oligosaccharide Man(9)(GlcNAc)(2).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by both 1-deoxymannojirimycin (dMNJ) and kifunensine.
UniProtKB/Swiss-Prot Function:
Involved in glycoprotein quality control targeting of misfolded glycoproteins for degradation. It primarily trims a single alpha-1,2-linked mannose residue from Man(9)GlcNAc(2) to produce Man(8)GlcNAc(2), but at high enzyme concentrations, as found in the ER quality control compartment (ERQC), it further trims the carbohydrates to Man(5-6)GlcNAc(2).

Enzyme Numbers (IUBMB) for MAN1B1 Gene

Gene Ontology (GO) - Molecular Function for MAN1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004571 mannosyl-oligosaccharide 1,2-alpha-mannosidase activity TAS 10521544
GO:0005509 calcium ion binding TAS 10521544
genes like me logo Genes that share ontologies with MAN1B1: view

Phenotypes for MAN1B1 Gene

GenomeRNAi human phenotypes for MAN1B1:
genes like me logo Genes that share phenotypes with MAN1B1: view

Animal Model Products

miRNA for MAN1B1 Gene

miRTarBase miRNAs that target MAN1B1

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for MAN1B1 Gene

Localization for MAN1B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAN1B1 Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MAN1B1 Gene COMPARTMENTS Subcellular localization image for MAN1B1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
golgi apparatus 2
cytosol 1
vacuole 1

Gene Ontology (GO) - Cellular Components for MAN1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum TAS 22160784
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus TAS 22160784
GO:0016020 membrane IDA 18003979
GO:0016021 integral component of membrane TAS 10521544
genes like me logo Genes that share ontologies with MAN1B1: view

Pathways & Interactions for MAN1B1 Gene

genes like me logo Genes that share pathways with MAN1B1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot Q9UKM7-MA1B1_HUMAN

  • Pathway: Protein modification; protein glycosylation

Gene Ontology (GO) - Biological Process for MAN1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS --
GO:0006487 protein N-linked glycosylation NAS 10521544
GO:0006491 N-glycan processing IBA --
GO:0008152 metabolic process --
GO:0009311 oligosaccharide metabolic process TAS 10409699
genes like me logo Genes that share ontologies with MAN1B1: view

No data available for SIGNOR curated interactions for MAN1B1 Gene

Drugs & Compounds for MAN1B1 Gene

(5) Drugs for MAN1B1 Gene - From: DrugBank, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
1-Deoxynojirimycin Experimental Pharma Target Glucosidase I and II inhibitor 0
1,4-Butanediol Experimental Pharma Target 0
Kifunensine Experimental Pharma Target 0
Methyl-2-S-(Alpha-D-Mannopyranosyl)-2-Thio-Alpha-D-Mannopyranoside Experimental Pharma Target 0
Calcium Nutra 0

(6) Additional Compounds for MAN1B1 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Mannose
  • (+)-mannose
  • (+-)-mannose
  • Carubinose
  • D(+)-Mannose
  • D-Mannopyranose
3458-28-4
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
1-Deoxymannojirimycin hydrochloride
73465-43-7
castanospermine
79831-76-8
Miglustat hydrochloride
210110-90-0
genes like me logo Genes that share compounds with MAN1B1: view

Transcripts for MAN1B1 Gene

Unigene Clusters for MAN1B1 Gene

Mannosidase, alpha, class 1B, member 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MAN1B1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAN1B1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b · 14c ^ 15a ·
SP1: - - - - - - -
SP2: - - -
SP3: - - - -
SP4: -
SP5: - - -
SP6: - - - -
SP7: -
SP8: - - -
SP9: - -
SP10:
SP11: - -

ExUns: 15b ^ 16a · 16b · 16c
SP1: -
SP2: -
SP3:
SP4: -
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10: - -
SP11:

Relevant External Links for MAN1B1 Gene

GeneLoc Exon Structure for
MAN1B1
ECgene alternative splicing isoforms for
MAN1B1

Expression for MAN1B1 Gene

mRNA expression in normal human tissues for MAN1B1 Gene

Protein differential expression in normal tissues from HIPED for MAN1B1 Gene

This gene is overexpressed in Nasal epithelium (53.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MAN1B1 Gene



SOURCE GeneReport for Unigene cluster for MAN1B1 Gene Hs.279881

mRNA Expression by UniProt/SwissProt for MAN1B1 Gene

Q9UKM7-MA1B1_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with MAN1B1: view

Protein tissue co-expression partners for MAN1B1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MAN1B1 Gene

Orthologs for MAN1B1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MAN1B1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MAN1B1 35
  • 78.78 (n)
  • 73.89 (a)
MAN1B1 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAN1B1 35
  • 81.79 (n)
  • 80.96 (a)
-- 36
  • 80 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Man1b1 35
  • 79.5 (n)
  • 78.36 (a)
Man1b1 16
Man1b1 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MAN1B1 35
  • 99.19 (n)
  • 99.14 (a)
MAN1B1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Man1b1 35
  • 80.06 (n)
  • 78.67 (a)
oppossum
(Monodelphis domestica)
Mammalia MAN1B1 36
  • 42 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAN1B1 36
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAN1B1 35
  • 69.37 (n)
  • 71.36 (a)
MAN1B1 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAN1B1 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia man1b1 35
  • 69.39 (n)
  • 68.13 (a)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-181b18.1 35
  • 67.19 (n)
  • 67.45 (a)
man1b1 36
  • 63 (a)
OneToMany
MAN1B1 (1 of 2) 36
  • 61 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG11874 37
  • 43 (a)
alpha-Man-Ib 35
  • 58.04 (n)
  • 53.48 (a)
CG11874 36
  • 41 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003884 35
  • 54.79 (n)
  • 49.83 (a)
worm
(Caenorhabditis elegans)
Secernentea T03G11.4 37
  • 52 (a)
ZC410.3 37
  • 47 (a)
T03G11.4 35
  • 55.01 (n)
  • 53.14 (a)
mans-3 36
  • 44 (a)
OneToMany
mans-4 36
  • 46 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER165W 35
  • 54.6 (n)
  • 42.76 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MNS1 36
  • 35 (a)
OneToMany
MNS1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons MNS3 35
  • 53.24 (n)
  • 53.62 (a)
rice
(Oryza sativa)
Liliopsida Os.21343 35
Os05g0209100 35
  • 53.74 (n)
  • 52.91 (a)
Species with no ortholog for MAN1B1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MAN1B1 Gene

ENSEMBL:
Gene Tree for MAN1B1 (if available)
TreeFam:
Gene Tree for MAN1B1 (if available)

Paralogs for MAN1B1 Gene

Paralogs for MAN1B1 Gene

Pseudogenes.org Pseudogenes for MAN1B1 Gene

genes like me logo Genes that share paralogs with MAN1B1: view

Variants for MAN1B1 Gene

Sequence variations from dbSNP and Humsavar for MAN1B1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs4567 -- 137,108,975(+) CTCAG(A/G)TGTCC utr-variant-3-prime, nc-transcript-variant
rs1133266 -- 137,095,485(+) ggccg(A/G)ggtgg intron-variant
rs4075381 -- 137,090,410(+) CCTGC(C/T)GAGGA intron-variant
rs4075382 -- 137,090,481(+) AGAGG(A/G)GCATT intron-variant
rs4880089 -- 137,089,626(+) GATGT(A/G)TGCGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MAN1B1 Gene

Variant ID Type Subtype PubMed ID
nsv469918 CNV Loss 18288195
nsv894387 CNV Gain 21882294
esv2422220 CNV Deletion 17116639
dgv8412n71 CNV Loss 21882294
dgv8415n71 CNV Loss 21882294
dgv8416n71 CNV Loss 21882294
nsv524322 CNV Loss 19592680
nsv894469 CNV Loss 21882294
dgv8423n71 CNV Loss 21882294
nsv894502 CNV Loss 21882294
nsv894503 CNV Loss 21882294
nsv894506 CNV Gain 21882294
dgv8425n71 CNV Loss 21882294
dgv8428n71 CNV Loss 21882294
nsv894521 CNV Loss 21882294
nsv894550 CNV Gain 21882294
dgv8437n71 CNV Gain 21882294
dgv8438n71 CNV Loss 21882294
dgv8439n71 CNV Loss 21882294
nsv894570 CNV Loss 21882294
dgv8441n71 CNV Loss 21882294
dgv8442n71 CNV Loss 21882294
nsv831761 CNV Loss 17160897
dgv8445n71 CNV Loss 21882294
dgv8446n71 CNV Loss 21882294
nsv825183 CNV Gain 20364138
nsv894591 CNV Loss 21882294
nsv511408 CNV Loss 21212237
dgv8447n71 CNV Loss 21882294
esv29243 CNV Gain 19812545
esv994450 CNV Loss 20482838
nsv416525 CNV Loss 16902084
esv1403415 CNV Insertion 17803354
dgv1342e201 CNV Deletion 23290073
esv8447 CNV Loss 19470904
nsv894593 CNV Loss 21882294
nsv894595 CNV Loss 21882294
dgv8448n71 CNV Loss 21882294

Variation tolerance for MAN1B1 Gene

Residual Variation Intolerance Score: 39.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAN1B1 Gene

HapMap Linkage Disequilibrium report
MAN1B1
Human Gene Mutation Database (HGMD)
MAN1B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAN1B1 Gene

Disorders for MAN1B1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for MAN1B1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
man1b1-cdg
  • intellectual disability-truncal obesity syndrome
mental retardation, autosomal recessive 15
  • mental retardation non-syndromic autosomal recessive 15
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
congenital disorder of glycosylation, type ii
  • congenital disorder of glycosylation, type iie
intellectual disability
- elite association

UniProtKB/Swiss-Prot

MA1B1_HUMAN
  • Mental retardation, autosomal recessive 15 (MRT15) [MIM:614202]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:21763484}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MAN1B1

Genetic Association Database (GAD)
MAN1B1
Human Genome Epidemiology (HuGE) Navigator
MAN1B1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAN1B1
genes like me logo Genes that share disorders with MAN1B1: view

No data available for Genatlas for MAN1B1 Gene

Publications for MAN1B1 Gene

  1. Polymorphism in the endoplasmic reticulum mannosidase I (MAN1B1) gene is not associated with liver disease in individuals homozygous for the Z variant of the alpha1-antitrypsin protease inhibitor (PiZZ individuals). (PMID: 19739260) Chappell S. … Kalsheker N. (Hepatology 2009) 23 67
  2. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  3. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  4. The Protein Data Bank. (PMID: 10592235) Berman H.M. … Bourne P.E. (Nucleic Acids Res. 2000) 25 26
  5. Identification, expression, and characterization of a cDNA encoding human endoplasmic reticulum mannosidase I, the enzyme that catalyzes the first mannose trimming step in mammalian Asn-linked oligosaccharide biosynthesis. (PMID: 10409699) Gonzalez D.S. … Moremen K.W. (J. Biol. Chem. 1999) 2 67

Products for MAN1B1 Gene

Sources for MAN1B1 Gene

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