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    Man1b1 mannosidase, alpha, class 1B, member 1 [ Mus musculus (house mouse) ]

    Gene ID: 227619, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Man1b1provided by MGI
    Official Full Name
    mannosidase, alpha, class 1B, member 1provided by MGI
    Primary source
    MGI:MGI:2684954
    See related
    Ensembl:ENSMUSG00000036646 AllianceGenome:MGI:2684954
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Gm108; ERMan1; MANA-ER; E430019H13Rik
    Summary
    Enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity. Acts upstream of or within ubiquitin-dependent ERAD pathway. Predicted to be located in cytoplasmic vesicle and endoplasmic reticulum quality control compartment. Predicted to be active in endoplasmic reticulum and membrane. Human ortholog(s) of this gene implicated in autosomal recessive non-syndromic intellectual disability. Orthologous to human MAN1B1 (mannosidase alpha class 1B member 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in large intestine adult (RPKM 13.7), limb E14.5 (RPKM 11.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Man1b1 in Genome Data Viewer
    Location:
    2 A3; 2 17.17 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (25222742..25242225)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (25332730..25352213)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene glutamate receptor, ionotropic, NMDA1 (zeta 1), opposite strand Neighboring gene glutamate receptor, ionotropic, NMDA1 (zeta 1) Neighboring gene STARR-seq mESC enhancer starr_03964 Neighboring gene STARR-seq mESC enhancer starr_03965 Neighboring gene expressed sequence AA543186 Neighboring gene dipeptidylpeptidase 7 Neighboring gene predicted gene, 46732

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Endoplasmic reticulum-associated degradation-induced dissociation of class II invariant chain complexes containing a glycosylation-deficient form of p41. Sevilla LM, et al. J Immunol, 2004 Aug 15. PMID 15294975
    2. Construction of long-transcript enriched cDNA libraries from submicrogram amounts of total RNAs by a universal PCR amplification method. Piao Y, et al. Genome Res, 2001 Sep. PMID 11544199, Free PMC Article
    3. Irisin Mediates Effects on Bone and Fat via αV Integrin Receptors. Kim H, et al. Cell, 2018 Dec 13. PMID 30550785, Free PMC Article
    4. Fancd2 in vivo interaction network reveals a non-canonical role in mitochondrial function. Zhang T, et al. Sci Rep, 2017 Apr 5. PMID 28378742, Free PMC Article
    5. GenePaint.org: an atlas of gene expression patterns in the mouse embryo. Visel A, et al. Nucleic Acids Res, 2004 Jan 1. PMID 14681479, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity, acting on glycosyl bonds IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within ERAD pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ERAD pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mannoprotein catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mannose trimming involved in glycoprotein ERAD pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasmic vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum quality control compartment ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase
    Names
    ER alpha-1,2-mannosidase
    ER mannosidase 1
    man9GlcNAc2-specific-processing alpha-mannosidase
    NP_001025154.1
    XP_006497923.1
    XP_030105470.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001029983.2 → NP_001025154.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase

      See identical proteins and their annotated locations for NP_001025154.1

      Status: VALIDATED

      Source sequence(s)
      AL732557, BC138551, BQ129775, BY247979, BY732333
      Consensus CDS
      CCDS15765.1
      UniProtKB/Swiss-Prot
      A2AJ15
      UniProtKB/TrEMBL
      Q923C1
      Related
      ENSMUSP00000036996.5, ENSMUST00000042390.5
      Conserved Domains (1) summary
      pfam01532
      Location:215 → 654
      Glyco_hydro_47; Glycosyl hydrolase family 47

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      25222742..25242225
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006497860.2 → XP_006497923.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X1

      Conserved Domains (1) summary
      pfam01532
      Location:215 → 549
      Glyco_hydro_47; Glycosyl hydrolase family 47

    2. XM_030249610.2 → XP_030105470.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X2

      UniProtKB/TrEMBL
      Q8BTW7
      Conserved Domains (1) summary
      pfam01532
      Location:1 → 398
      Glyco_hydro_47; Glycosyl hydrolase family 47
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A2AJ15.1 GenPept UniProtKB/Swiss-Prot:A2AJ15

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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