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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
  • 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 4
  • MANA-ER 3
  • ERMAN1 3
  • ERManI 3
  • ERMan1 4
  • 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 Calnexin/calreticulin cycle and Protein processing in endoplasmic reticulum. Gene Ontology (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 MAN1A1.

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

GeneHancer (GH) Regulatory Elements for MAN1B1 Gene

Promoters and enhancers for MAN1B1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J137085 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 -0.2 -245 2.9 HDGF PKNOX1 CLOCK FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B GC09M137086 MAN1B1 MAN1B1-DT DPP7 FUT7 PIR60888
GH09J137233 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 26.9 +151.4 151444 9.9 CLOCK MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF416 ZNF143 SP3 TUBB4B EHMT1 ENTR1 ANAPC2 NDOR1 DPH7 INPP5E LOC100418938 MAN1B1 SNHG7
GH09J136942 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 31 -139.4 -139401 10.6 CLOCK ZFP64 DMAP1 YY1 E2F8 ZNF143 SP3 NFYC MEF2D GLIS1 LCN12 FBXW5 C8G EHMT1 ANAPC2 ENTR1 DPH7 MAN1B1 SEC16A LOC100418938
GH09J137113 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 36.2 +27.8 27826 1.8 HDGF CLOCK ATF1 SIN3A GLIS2 FOS ATF7 DEK ZNF263 REST DPP7 MAN1B1 UAP1L1 DPH7 SNHG7 ANAPC2 EHMT1 EXD3 ENTR1 SEC16A
GH09J136990 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE 25.2 -90.8 -90847 10.9 HDGF PKNOX1 CLOCK ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B PAXX CLIC3 EHMT1 ANAPC2 SEC16A MAN1B1 ENTR1 DPH7 NDOR1 SNHG7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAN1B1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MAN1B1 gene promoter:
  • AhR
  • HSF2
  • Arnt
  • Pax-5
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b

Genomic Locations for MAN1B1 Gene

Genomic Locations for MAN1B1 Gene
22,326 bases
Plus strand
22,261 bases
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:
    Recommended name:
    Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase
    Protein Accession:
    Secondary Accessions:
    • Q5VSG3
    • Q9BRS9
    • Q9Y5K7

    Protein attributes for MAN1B1 Gene

    699 amino acids
    Molecular mass:
    79580 Da
    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=508508, posLast=381381, posLast=242242, isoforms=223, posLast=219219, and isoforms=174
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MAN1B1 Gene

Domains & Families for MAN1B1 Gene

Gene Families for MAN1B1 Gene

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

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyl hydrolase 47 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 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).
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 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};

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:0003824 catalytic activity IEA --
GO:0004571 mannosyl-oligosaccharide 1,2-alpha-mannosidase activity IEA,TAS 10521544
GO:0005509 calcium ion binding IEA,TAS 10521544
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
genes like me logo Genes that share ontologies with MAN1B1: view

Phenotypes for MAN1B1 Gene

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

miRNA for MAN1B1 Gene

miRTarBase miRNAs that target MAN1B1

Clone Products

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

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 ubiquitin-dependent ERAD pathway IMP,IEA 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, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
calcium Approved Nutra 0
Acarbose Approved, Investigational Pharma Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) 91
1-Deoxynojirimycin Experimental Pharma Target Glucosidase I and II inhibitor 26
Kifunensine Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Miglustat hydrochloride

(5) Tocris Compounds for MAN1B1 Gene

Compound Action Cas Number
1-Deoxymannojirimycin hydrochloride alpha-Mannosidase I inhibitor 73465-43-7
1-Deoxynojirimycin Glucosidase I and II inhibitor 19130-96-2
Acarbose Glucosidase alpha inhibitor (intestinal) 56180-94-0
Castanospermine Glucosidases alpha and beta inhibitor 79831-76-8
Miglustat hydrochloride alpha-glucosidase I and II inhibitor. Also inhibits ceramide-specific glycosyltransferases 210110-90-0
genes like me logo Genes that share compounds with MAN1B1: view

Transcripts for MAN1B1 Gene

mRNA/cDNA for MAN1B1 Gene

Unigene Clusters for MAN1B1 Gene

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

Clone 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: - -
SP11: - -

ExUns: 15b ^ 16a · 16b · 16c
SP1: -
SP2: -
SP4: -
SP7: -
SP10: - -

Relevant External Links for MAN1B1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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, 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:


SOURCE GeneReport for Unigene cluster for MAN1B1 Gene:


mRNA Expression by UniProt/SwissProt for MAN1B1 Gene:

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
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
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
  • chest wall
  • heart
  • abdominal wall
  • foot
  • lower limb
  • 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

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
(Pan troglodytes)
Mammalia MAN1B1 34 33
  • 99.19 (n)
(Canis familiaris)
Mammalia MAN1B1 33
  • 81.79 (n)
-- 34
  • 80 (a)
-- 34
  • 76 (a)
(Rattus norvegicus)
Mammalia Man1b1 33
  • 80.06 (n)
(Mus musculus)
Mammalia Man1b1 16 34 33
  • 79.5 (n)
(Bos Taurus)
Mammalia MAN1B1 34 33
  • 78.78 (n)
(Ornithorhynchus anatinus)
Mammalia MAN1B1 34
  • 59 (a)
(Monodelphis domestica)
Mammalia MAN1B1 34
  • 42 (a)
(Gallus gallus)
Aves MAN1B1 34 33
  • 69.37 (n)
(Anolis carolinensis)
Reptilia MAN1B1 34
  • 74 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia man1b1 33
  • 69.39 (n)
(Danio rerio)
Actinopterygii si:ch211-181b18.1 33
  • 67.19 (n)
man1b1 34
  • 63 (a)
MAN1B1 (1 of 2) 34
  • 61 (a)
fruit fly
(Drosophila melanogaster)
Insecta alpha-Man-Ib 33
  • 58.04 (n)
CG11874 34 35
  • 41 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003884 33
  • 54.79 (n)
(Caenorhabditis elegans)
Secernentea T03G11.4 35 33
  • 55.01 (n)
ZC410.3 35
  • 47 (a)
mans-4 34
  • 46 (a)
mans-3 34
  • 44 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER165W 33
  • 54.6 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MNS1 36 34
  • 35 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons MNS3 33
  • 53.24 (n)
(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

Gene Tree for MAN1B1 (if available)
Gene Tree for MAN1B1 (if available)
Evolutionary constrained regions (ECRs) for MAN1B1: view image

Paralogs for MAN1B1 Gene

Paralogs for MAN1B1 Gene

(8) SIMAP similar genes for MAN1B1 Gene using alignment to 9 proteins:

  • H0YG20_HUMAN
  • H0YI64_HUMAN
  • H0YIU0_HUMAN 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 Variation AA Info Type
rs112434939 uncertain-significance, Intellectual Disability, Recessive 137,097,924(+) A/C/G coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs113472164 uncertain-significance, Intellectual Disability, Recessive 137,106,728(+) A/G coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs114057640 uncertain-significance, likely-benign, not specified, not provided 137,099,759(+) G/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs114484315 uncertain-significance, Intellectual Disability, Recessive 137,108,396(+) G/A/T 3_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs115335100 uncertain-significance, Intellectual Disability, Recessive 137,088,887(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant

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)

Additional Variant Information for MAN1B1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for MAN1B1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MAN1B1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal recessive 15
  • mrt15
  • 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
  • cdg1i
congenital disorder of glycosylation, type in
  • cdg1n
- elite association - COSMIC cancer census association via MalaCards


  • 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.

Additional Disease Information for MAN1B1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 44 58
  2. 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 58
  3. 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 58
  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 58
  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 44 58

Products for MAN1B1 Gene

Sources for MAN1B1 Gene

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