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-re... See more...

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
  • Endoplasmic Reticulum Mannosyl-Oligosaccharide 1,2-Alpha-Mannosidase 3 4
  • Man9GlcNAc2-Specific Processing Alpha-Mannosidase 2 3
  • Endoplasmic Reticulum Class I Alpha-Mannosidase 2 3
  • ER Alpha 1,2-Mannosidase 2 3
  • MANA-ER 2 3
  • ERManI 2 3
  • MRT15 2 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
  • ERMAN1 3
  • MAN1B1 5
  • ERMan1 4

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 Rafiq Syndrome 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 Summary 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 CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAN1B1 Gene

Genomics for MAN1B1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MAN1B1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
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 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 -0.1 -67 3.5 SP1 ZNF207 ZNF600 MYC IKZF1 ZNF592 KLF9 ZNF223 ZNF10 POLR2A MAN1B1 MAN1B1-DT ENTR1 EHMT1 SNHG7 DPP7 SEC16A DPH7 ANAPC2 FUT7
GH09J136787 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 34 -292.2 -292154 14.1 SP1 NCOR1 MYC ZNF654 ZNF600 IKZF1 SSRP1 ZNF580 CEBPA ZNF223 TMEM141 CCDC183 DPH7 ANAPC2 EHMT1 ENTR1 SNHG7 SEC16A MAN1B1 NDOR1
GH09J137233 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 26.9 +152.3 152269 11.7 BCLAF1 SP1 ZNF207 ZNF654 ZNF600 IKZF1 MYC NCOR1 SSRP1 ZNF580 TUBB4B EHMT1 ANAPC2 INPP5E ENTR1 NDOR1 DPH7 LOC651337 MAN1B1 SNHG7
GH09J136358 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas 27.9 -725.2 -725208 5.7 BCLAF1 SP1 ZNF207 ZNF600 MYC SIX5 ZNF592 POLR2A BRCA1 NFIC DNLZ RABL6 INPP5E ANAPC2 MAN1B1 SNAPC4 SNHG7 ENTR1 CARD9 NPDC1
GH09J137067 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 30.5 -17.4 -17411 4.4 SP1 IKZF1 MYC ZNF600 NFIC POLR2A ZIC2 CHD4 ZBTB10 NONO HSALNG0075347 SAPCD2 MAN1B1 EHMT1 DPP7 SEC16A ANAPC2 ENTR1 SNHG7 NDOR1
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAN1B1

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

Genomic Locations for MAN1B1 Gene

Latest Assembly
chr9:137,086,941-137,109,183
(GRCh38/hg38)
Size:
22,243 bases
Orientation:
Plus strand

Previous Assembly
chr9:139,981,437-140,003,635
(GRCh37/hg19 by Entrez Gene)
Size:
22,199 bases
Orientation:
Plus strand

chr9:139,981,379-140,003,635
(GRCh37/hg19 by Ensembl)
Size:
22,257 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 Ser174, Thr219, Ser223, Thr230, Thr239, Thr242, Thr381, and Thr508
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for MAN1B1
  • Boster Bio Antibodies for MAN1B1

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

InterPro:
Blocks:
  • Glycosyl hydrolase family 47 signature

Suggested Antigen Peptide Sequences for MAN1B1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ90218 fis, clone MAMMA1002586, highly similar to Endoplasmic reticulummannosyl-oligosaccharide 1,2-alpha-mannosidase (EC 3.2.1.113) (B3KQC5_HUMAN)
  • Mannosidase alpha class 1B member 1 (MA1B1_HUMAN)
  • Mannosidase, alpha, class 1B, member 1 (Q5VSF2_HUMAN)

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 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:
Reaction=4 H2O + N(4)-(alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-alpha-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 9A1,2,3B1,2,3) = 4 beta-D-mannose + N(4)-(alpha-D-Man-(1->3)-[alpha-D-Man-(1->3)-[alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 5A1,2); Xref=Rhea:RHEA:56008, Rhea:RHEA-COMP:14356, Rhea:RHEA-COMP:14367, ChEBI:CHEBI:15377, ChEBI:CHEBI:28563, ChEBI:CHEBI:59087, ChEBI:CHEBI:139493; EC=3.2.1.113; Evidence={ECO:0000269|PubMed:10409699, ECO:0000269|PubMed:12090241, ECO:0000269|PubMed:15713668};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3 H2O + N(4)-(alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-alpha-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 8A1,2,3B1,3) = 3 beta-D-mannose + N(4)-(alpha-D-Man-(1->3)-[alpha-D-Man-(1->3)-[alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 5A1,2); Xref=Rhea:RHEA:56028, Rhea:RHEA-COMP:14358, Rhea:RHEA-COMP:14367, ChEBI:CHEBI:15377, ChEBI:CHEBI:28563, ChEBI:CHEBI:59087, ChEBI:CHEBI:60628; EC=3.2.1.113; Evidence={ECO:0000269|PubMed:10409699, ECO:0000269|PubMed:12090241, ECO:0000269|PubMed:15713668};.
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 EnzymeRegulation:
Inhibited by both 1-deoxymannojirimycin (dMNJ) and kifunensine.

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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
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
endoplasmic reticulum 5
extracellular 4
golgi apparatus 4
plasma membrane 2
cytosol 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
lysosome 1
peroxisome 0

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:0005783 endoplasmic reticulum TAS 22160784
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus TAS 22160784
GO:0016020 membrane IEA,IDA 18003979
GO:0016021 integral component of membrane IEA,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

Pathways by source for MAN1B1 Gene

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:0005975 carbohydrate metabolic process IEA --
GO:0006486 protein glycosylation IEA --
GO:0006491 N-glycan processing IBA 21873635
GO:0008152 metabolic process IEA --
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

(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) 102
Kifunensine Experimental Pharma Target 0
1,4-Butanediol Experimental Pharma Target 0
Methyl-2-S-(Alpha-D-Mannopyranosyl)-2-Thio-Alpha-D-Mannopyranoside 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-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

(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 for research

Transcripts for MAN1B1 Gene

mRNA/cDNA for MAN1B1 Gene

1 REFSEQ mRNAs :
27 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAN1B1

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

Expression for MAN1B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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)
  • Lung(4.5)
  • Liver(4.4)
  • Skin(2.5)
  • Kidney(2.2)

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
Regions:
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 for research

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 29 30
  • 99.19 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MAN1B1 29
  • 81.79 (n)
-- 30
  • 80 (a)
OneToMany
-- 30
  • 76 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Man1b1 29
  • 80.06 (n)
Mouse
(Mus musculus)
Mammalia Man1b1 29 16 30
  • 79.5 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MAN1B1 29 30
  • 78.78 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MAN1B1 30
  • 59 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MAN1B1 30
  • 42 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MAN1B1 29 30
  • 69.37 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MAN1B1 30
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia man1b1 29
  • 69.39 (n)
Zebrafish
(Danio rerio)
Actinopterygii si:ch211-181b18.1 29
  • 67.19 (n)
man1b1 30
  • 63 (a)
OneToMany
MAN1B1 (1 of 2) 30
  • 61 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta alpha-Man-Ib 29
  • 58.04 (n)
CG11874 30 31
  • 41 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003884 29
  • 54.79 (n)
Worm
(Caenorhabditis elegans)
Secernentea T03G11.4 29 31
  • 55.01 (n)
ZC410.3 31
  • 47 (a)
mans-4 30
  • 46 (a)
OneToMany
mans-3 30
  • 44 (a)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AER165W 29
  • 54.6 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MNS1 30 32
  • 35 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons MNS3 29
  • 53.24 (n)
Rice
(Oryza sativa)
Liliopsida Os05g0209100 29
  • 53.74 (n)
Os.21343 29
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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for MAN1B1: view image
Alliance of Genome Resources:
Additional Orthologs for MAN1B1

Paralogs for MAN1B1 Gene

Paralogs for MAN1B1 Gene

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

  • MA1B1_HUMAN
  • B3KQC5_HUMAN
  • H0YFU3_HUMAN
  • H0YFV8_HUMAN
  • H0YG20_HUMAN
  • H0YGQ1_HUMAN
  • H0YGV7_HUMAN
  • H0YI64_HUMAN
  • H0YIU0_HUMAN

Pseudogenes.org Pseudogenes for MAN1B1 Gene

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

Variants for MAN1B1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAN1B1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
1023415 Uncertain Significance: Mental retardation, autosomal recessive 15 137,099,839(+) A/G
NM_016219.5(MAN1B1):c.874A>G (p.Ile292Val)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1028012 Uncertain Significance: Mental retardation, autosomal recessive 15 137,107,574(+) G/A
NM_016219.5(MAN1B1):c.1808G>A (p.Ser603Asn)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1030540 Uncertain Significance: Mental retardation, autosomal recessive 15 137,101,116(+) A/G
NM_016219.5(MAN1B1):c.1028A>G (p.Tyr343Cys)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1030541 Uncertain Significance: Mental retardation, autosomal recessive 15 137,101,130(+) G/T
NM_016219.5(MAN1B1):c.1042G>T (p.Asp348Tyr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1030542 Pathogenic: Mental retardation, autosomal recessive 15 137,106,314(+) C/T
NM_016219.5(MAN1B1):c.1444C>T (p.Gln482Ter)
NONSENSE,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MAN1B1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
MAN1B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAN1B1
Leiden Open Variation Database (LOVD)
MAN1B1

SNP Genotyping and Copy Number Assays for research

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

Disorders for MAN1B1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for MAN1B1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
rafiq syndrome
  • rafqs
man1b1-cdg
  • carbohydrate deficient glycoprotein syndrome type ii due to man1b1 deficiency
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
immunodeficiency 47
  • imd47
camptodactyly-tall stature-scoliosis-hearing loss syndrome
  • catshl syndrome
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for MAN1B1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MAN1B1: view

No data available for Genatlas for MAN1B1 Gene

Publications for MAN1B1 Gene

  1. 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 72
  2. 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 40
  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
  4. 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
  5. MAN1B-CDG: Novel variants with a distinct phenotype and review of literature. (PMID: 29908352) Balasubramanian M … DDD Study (European journal of medical genetics 2019) 3 72

Products for MAN1B1 Gene

Sources for MAN1B1 Gene