Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MAN1B1 Gene

Aliases for MAN1B1 Gene

  • Mannosidase Alpha Class 1B Member 1 2 3 4 5
  • Endoplasmic Reticulum Mannosyl-Oligosaccharide 1,2-Alpha-Mannosidase 1 2 3
  • Man9GlcNAc2-Specific Processing Alpha-Mannosidase 2 3
  • Endoplasmic Reticulum Class I Alpha-Mannosidase 2 3
  • ER Alpha 1,2-Mannosidase 2 3
  • ERMAN1 3 4
  • Endoplasmic Reticulum Mannosyl-Oligosaccharide 1,2-Alpha-Mannosidase 3
  • Man9GlcNAc2-Specific-Processing Alpha-Mannosidase 4
  • Endoplasmic Reticulum Alpha-Mannosidase 1 2
  • Mannosidase, Alpha, Class 1B, Member 1 2
  • ER Alpha-1,2-Mannosidase 4
  • Alpha 1,2-Mannosidase 2
  • ER Mannosidase 1 4
  • EC 3.2.1.113 4
  • MANA-ER 3
  • ERManI 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 Mental Retardation, Autosomal Recessive 15 and Man1b1-Cdg. Among its related pathways are Protein processing in endoplasmic reticulum and Transport to the Golgi and subsequent modification. 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 MAN1A2.

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

Additional gene information for MAN1B1 Gene

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

Genomics for MAN1B1 Gene

Regulatory Elements for MAN1B1 Gene

Enhancers for MAN1B1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H137233 1.8 FANTOM5 ENCODE dbSUPER 26.9 +151.4 151444 9 MLX FEZF1 DMAP1 YY1 ZNF416 ZNF143 SP3 NFYC ZC3H11A ZFP41 EHMT1 SDCCAG3 NDOR1 ANAPC2 LOC651337 INPP5E DPH7 MAN1B1 SEC16A IL9RP1
GH09H136942 1.4 ENCODE dbSUPER 31 -139.4 -139402 10 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B EHMT1 ANAPC2 SDCCAG3 DPH7 MAN1B1 SEC16A LCN12 LOC651337 NDOR1 SNHG7
GH09H137166 1.8 FANTOM5 Ensembl ENCODE dbSUPER 22.1 +84.3 84283 10 HDGF SIN3A ZNF2 ZBTB7B GLIS2 ZNF143 KLF7 SP3 REST GLIS1 MAN1B1 TPRN DPH7 INPP5E IL9RP1 ARRDC1-AS1 EXD3 TMEM203 NDOR1 GRIN1
GH09H137292 1.7 FANTOM5 ENCODE dbSUPER 21.9 +213.5 213540 15 PKNOX1 FOXA2 ARNT ZFP64 SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF766 EHMT1 DPH7 INPP5E SDCCAG3 ANAPC2 EXD3 MAN1B1 NRARP NDOR1 SNAPC4
GH09H136088 1.7 FANTOM5 ENCODE dbSUPER 20.6 -994.3 -994288 7 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF766 ZNF143 DEK SP3 SP5 MAN1B1 SDCCAG3 INPP5E SEC16A SNAPC4 UBAC1 QSOX2 SNHG7 CCDC183-AS1 KCNT1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MAN1B1 on UCSC Golden Path with GeneCards custom track

Promoters for MAN1B1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000243135 38 1801 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143

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

Genes around MAN1B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAN1B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for MAN1B1 Gene

  • Glycosylation at posLast=174174, posLast=219219, Ser223, posLast=242242, posLast=381381, and Thr508
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MAN1B1 Gene

Domains & Families for MAN1B1 Gene

Gene Families for MAN1B1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

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

Phenotypes From GWAS Catalog 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 IEA,TAS 10521544
GO:0005509 calcium ion binding TAS,IEA 10521544
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
GO:0046872 metal ion binding IEA --
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

Human Phenotype Ontology for MAN1B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for MAN1B1 Gene

miRTarBase miRNAs that target MAN1B1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MAN1B1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAN1B1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MAN1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IBA --
GO:0005783 endoplasmic reticulum TAS 22160784
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus TAS 22160784
GO:0016020 membrane IEA,IDA 18003979
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

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:0006486 protein glycosylation IEA --
GO:0006491 N-glycan processing IBA --
GO:0008152 metabolic process IEA --
GO:0009311 oligosaccharide metabolic process TAS 10409699
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process IEA,IMP 18003979
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Acarbose Approved, Investigational Pharma Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) 86
1-Deoxynojirimycin Experimental Pharma Target Glucosidase I and II inhibitor 26
Kifunensine Experimental Pharma Target Inhibitor of class I alpha-mannosidases 0
1,4-Butanediol Experimental Pharma Target 0

(1) Additional Compounds for MAN1B1 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Miglustat hydrochloride
210110-90-0

(5) Tocris Compounds for MAN1B1 Gene

Compound Action Cas Number
1-Deoxynojirimycin Glucosidase I and II inhibitor 19130-96-2
Acarbose Glucosidase alpha inhibitor (intestinal) 56180-94-0
Kifunensine Inhibitor of class I alpha-mannosidases 109944-15-2
Miglustat hydrochloride alpha-glucosidase I and II inhibitor. Also inhibits ceramide-specific glycosyltransferases 210110-90-0
Swainsonine Inhibitor of alpha-mannosidase II 72741-87-8

(2) ApexBio Compounds for MAN1B1 Gene

Compound Action Cas Number
1-Deoxymannojirimycin hydrochloride 73465-43-7
Kifunensine 109944-15-2
genes like me logo Genes that share compounds with MAN1B1: view

Drug Products

Transcripts for MAN1B1 Gene

Unigene Clusters for MAN1B1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MAN1B1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for MAN1B1 Gene



Protein tissue co-expression partners for MAN1B1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MAN1B1 Gene:

MAN1B1

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.

Evidence on tissue expression from TISSUES for MAN1B1 Gene

  • Nervous system(4.7)
  • Liver(4.4)
  • Lung(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MAN1B1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • heart
Abdomen:
  • abdominal wall
Limb:
  • foot
  • lower limb
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
genes like me logo Genes that share expression patterns with MAN1B1: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia MAN1B1 33 34
  • 99.19 (n)
dog
(Canis familiaris)
Mammalia MAN1B1 33
  • 81.79 (n)
-- 34
  • 80 (a)
OneToMany
-- 34
  • 76 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Man1b1 33
  • 80.06 (n)
mouse
(Mus musculus)
Mammalia Man1b1 33 16 34
  • 79.5 (n)
cow
(Bos Taurus)
Mammalia MAN1B1 33 34
  • 78.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MAN1B1 34
  • 59 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAN1B1 34
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAN1B1 33 34
  • 69.37 (n)
lizard
(Anolis carolinensis)
Reptilia MAN1B1 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia man1b1 33
  • 69.39 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-181b18.1 33
  • 67.19 (n)
man1b1 34
  • 63 (a)
OneToMany
MAN1B1 (1 of 2) 34
  • 61 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta alpha-Man-Ib 33
  • 58.04 (n)
CG11874 35 34
  • 43 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003884 33
  • 54.79 (n)
worm
(Caenorhabditis elegans)
Secernentea T03G11.4 35 33
  • 55.01 (n)
ZC410.3 35
  • 47 (a)
mans-4 34
  • 46 (a)
OneToMany
mans-3 34
  • 44 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER165W 33
  • 54.6 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MNS1 34 36
  • 35 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons MNS3 33
  • 53.24 (n)
rice
(Oryza sativa)
Liliopsida Os05g0209100 33
  • 53.74 (n)
Os.21343 33
Species where no ortholog for MAN1B1 was found in the sources mined by GeneCards:
  • 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
rs387906885 Pathogenic, Mental retardation, autosomal recessive 15 (MRT15) [MIM:614202] 137,101,607(+) TGGCC(A/G)AGGTG nc-transcript-variant, upstream-variant-2KB, reference, missense
rs387906886 Pathogenic, Mental retardation, autosomal recessive 15 (MRT15) [MIM:614202] 137,101,088(+) CGATC(C/T)GCATC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs794729645 Pathogenic 137,106,146(+) TGACA(-/CA)GCACA nc-transcript-variant, reference, frameshift-variant
rs797045688 Likely pathogenic 137,096,301(+) AGACC(-/TGAAGGATGGGAC)CCAGG nc-transcript-variant, reference, frameshift-variant
rs118117962 Likely benign 137,108,543(+) GCCTA(C/T)GTGTT nc-transcript-variant, reference, synonymous-codon, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv1284e201 CNV deletion 23290073
dgv13007n54 CNV loss 21841781
dgv4543e59 CNV duplication 20981092
esv1403415 CNV insertion 17803354
esv2422220 CNV deletion 17116639
esv2761561 CNV gain 21179565
esv29243 CNV gain 19812545
esv3341012 CNV duplication 20981092
esv3376450 CNV duplication 20981092
esv3622021 CNV loss 21293372
esv8447 CNV loss 19470904
esv994450 CNV loss 20482838
nsv1078092 CNV duplication 25765185
nsv1119318 CNV duplication 24896259
nsv1120581 CNV tandem duplication 24896259
nsv1124490 CNV deletion 24896259
nsv1152158 CNV duplication 26484159
nsv416525 CNV deletion 16902084
nsv469918 CNV loss 18288195
nsv511408 CNV loss 21212237
nsv524322 CNV loss 19592680
nsv616005 CNV loss 21841781
nsv616007 CNV loss 21841781
nsv825183 CNV gain 20364138
nsv831761 CNV loss 17160897
nsv951206 CNV deletion 24416366

Variation tolerance for MAN1B1 Gene

Residual Variation Intolerance Score: 39.5% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAN1B1 Gene

Human Gene Mutation Database (HGMD)
MAN1B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal recessive 15
  • mental retardation non-syndromic autosomal recessive 15
man1b1-cdg
  • carbohydrate deficient glycoprotein syndrome type ii due to man1b1 deficiency
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
congenital disorder of glycosylation, type ii
  • congenital disorder of glycosylation, type iie
syringomyelia
- elite association - COSMIC cancer census association via MalaCards

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 (Baltimore, Md.) 2009) 3 22 45 60
  2. Cloning and expression of a specific human alpha 1,2-mannosidase that trims Man9GlcNAc2 to Man8GlcNAc2 isomer B during N-glycan biosynthesis. (PMID: 10521544) Tremblay LO … Herscovics A (Glycobiology 1999) 2 3 4 60
  3. 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 DS … Moremen KW (The Journal of biological chemistry 1999) 2 3 4 60
  4. Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. (PMID: 21763484) Rafiq MA … Najmabadi H (American journal of human genetics 2011) 3 4 60
  5. Single nucleotide polymorphism-mediated translational suppression of endoplasmic reticulum mannosidase I modifies the onset of end-stage liver disease in alpha1-antitrypsin deficiency. (PMID: 19444872) Pan S … Sifers RN (Hepatology (Baltimore, Md.) 2009) 3 45 60

Products for MAN1B1 Gene

Sources for MAN1B1 Gene

Content
Loading form....