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    Alg12 ALG12 alpha-1,6-mannosyltransferase [ Mus musculus (house mouse) ]

    Gene ID: 223774, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Alg12provided by MGI
    Official Full Name
    ALG12 alpha-1,6-mannosyltransferaseprovided by MGI
    Primary source
    MGI:MGI:2385025
    See related
    Ensembl:ENSMUSG00000035845 AllianceGenome:MGI:2385025
    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
    ECM39
    Summary
    Predicted to enable alpha-1,6-mannosyltransferase activity. Predicted to be involved in protein N-linked glycosylation. Predicted to act upstream of or within dolichol-linked oligosaccharide biosynthetic process. Predicted to be located in endoplasmic reticulum lumen and membrane. Predicted to be integral component of membrane. Predicted to be active in endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation Ig. Orthologous to human ALG12 (ALG12 alpha-1,6-mannosyltransferase). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in ovary adult (RPKM 11.5), testis adult (RPKM 11.0) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    15 E3; 15 44.3 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (88689448..88703498, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (88805243..88819318, complement)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene bromodomain containing 1 Neighboring gene STARR-seq mESC enhancer starr_39439 Neighboring gene STARR-positive B cell enhancer ABC_E9918 Neighboring gene STARR-positive B cell enhancer ABC_E5507 Neighboring gene zinc finger, BED type containing 4 Neighboring gene STARR-seq mESC enhancer starr_39444 Neighboring gene STARR-positive B cell enhancer ABC_E391 Neighboring gene cysteine-rich with EGF-like domains 2 Neighboring gene predicted gene, 23144

    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. Characterization of the 5'-flanking region of the mouse asparagine-linked glycosylation 12 homolog gene. Oh-Hashi K, et al. Cell Mol Biol Lett, 2013 Sep. PMID 23818223, Free PMC Article
    2. Role of an ER stress response element in regulating the bidirectional promoter of the mouse CRELD2 - ALG12 gene pair. Oh-Hashi K, et al. BMC Genomics, 2010 Nov 25. PMID 21106106, Free PMC Article
    3. Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase. Chantret I, et al. J Biol Chem, 2002 Jul 12. PMID 11983712
    4. Common origin and evolution of glycosyltransferases using Dol-P-monosaccharides as donor substrate. Oriol R, et al. Mol Biol Evol, 2002 Sep. PMID 12200473
    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 (20) 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 (3) 

    Pathways from PubChem

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    General gene information

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    Homology

    Clone Names

    • MGC29374

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables alpha-1,6-mannosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables glycosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables mannosyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within dolichol-linked oligosaccharide biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in protein N-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase
    Names
    asparagine-linked glycosylation 12 (alpha-1,6-mannosyltransferase)
    asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)
    asparagine-linked glycosylation protein 12 homolog
    dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase
    mannosyltransferase ALG12 homolog
    NP_001135829.1
    NP_001402946.1
    NP_001402947.1
    NP_001402948.1
    NP_663452.1

    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_001142357.2 → NP_001135829.1  dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase isoform 1

      See identical proteins and their annotated locations for NP_001135829.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC117700
      Consensus CDS
      CCDS49694.1
      UniProtKB/Swiss-Prot
      Q3UQK8, Q8VDB2
      Related
      ENSMUSP00000123935.2, ENSMUST00000162183.8
      Conserved Domains (1) summary
      cl21590
      Location:17 → 405
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase

    2. NM_001416017.1 → NP_001402946.1  dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC117700
      UniProtKB/Swiss-Prot
      Q3UQK8, Q8VDB2

    3. NM_001416018.1 → NP_001402947.1  dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC117700
      UniProtKB/Swiss-Prot
      Q3UQK8, Q8VDB2

    4. NM_001416019.1 → NP_001402948.1  dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC117700

    5. NM_145477.3 → NP_663452.1  dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase isoform 2

      See identical proteins and their annotated locations for NP_663452.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site and lacks two exons in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AC117700
      Consensus CDS
      CCDS27732.1
      UniProtKB/TrEMBL
      Q8VCA2
      Related
      ENSMUSP00000043480.9, ENSMUST00000043087.15
      Conserved Domains (1) summary
      cl21590
      Location:17 → 232
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase

    RNA

    1. NR_183241.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC117700

    2. NR_183242.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC117700

    3. NR_183243.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC117700

    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_000081.7 Reference GRCm39 C57BL/6J

      Range
      88689448..88703498 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8VDB2.2 GenPept UniProtKB/Swiss-Prot:Q8VDB2

    Gene LinkOut

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

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