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    Mvb12a multivesicular body subunit 12A [ Mus musculus (house mouse) ]

    Gene ID: 73711, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Mvb12aprovided by MGI
    Official Full Name
    multivesicular body subunit 12Aprovided by MGI
    Primary source
    MGI:MGI:1920961
    See related
    Ensembl:ENSMUSG00000031813 AllianceGenome:MGI:1920961
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Fam125a; 1110012M11Rik
    Summary
    Predicted to enable lipid binding activity and ubiquitin binding activity. Predicted to be involved in several processes, including endosome to lysosome transport via multivesicular body sorting pathway; receptor catabolic process; and regulation of epidermal growth factor receptor signaling pathway. Predicted to be located in centrosome; intracellular membrane-bounded organelle; and vesicle. Predicted to be part of ESCRT I complex. Predicted to be active in cytosol. Is expressed in cerebral cortex ventricular layer and cortical plate. Orthologous to human MVB12A (multivesicular body subunit 12A). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in duodenum adult (RPKM 37.7), adrenal adult (RPKM 34.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mvb12a in Genome Data Viewer
    Location:
    8 B3.3; 8 34.43 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (71995552..72000670)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (71542907..71548026)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 194 Neighboring gene 14-3-3 protein sigma-like Neighboring gene STARR-seq mESC enhancer starr_21821 Neighboring gene STARR-positive B cell enhancer ABC_E1759 Neighboring gene bone marrow stromal cell antigen 2 Neighboring gene STARR-positive B cell enhancer ABC_E6652 Neighboring gene transmembrane protein 221 Neighboring gene STARR-positive B cell enhancer ABC_E6653 Neighboring gene nucleoredoxin-like 1

    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. The ATG5 interactome links clathrin-mediated vesicular trafficking with the autophagosome assembly machinery. Baines K, et al. Autophagy Rep, 2022. PMID 35449600, Free PMC Article
    2. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article
    3. BioID screening of biotinylation sites using the avidin-like protein Tamavidin 2-REV identifies global interactors of stimulator of interferon genes (STING). Motani K, et al. J Biol Chem, 2020 Aug 7. PMID 32554809, Free PMC Article
    4. Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Bedogni F, et al. Front Mol Neurosci, 2021. PMID 34321999, Free PMC Article
    5. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC99951

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables lipid binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ubiquitin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ubiquitin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in endosome to lysosome transport via multivesicular body sorting pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in receptor catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of epidermal growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of epidermal growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of epidermal growth factor receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in viral budding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in viral budding IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in viral budding ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in virus maturation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in virus maturation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in virus maturation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of ESCRT I complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of ESCRT I complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of ESCRT I complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    multivesicular body subunit 12A
    Names
    ESCRT-I complex subunit MVB12A
    family with sequence similarity 125, member A

    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_028617.2 → NP_082893.1  multivesicular body subunit 12A

      See identical proteins and their annotated locations for NP_082893.1

      Status: PROVISIONAL

      Source sequence(s)
      BC020119
      Consensus CDS
      CCDS22398.1
      UniProtKB/Swiss-Prot
      Q78HU3
      Related
      ENSMUSP00000034272.8, ENSMUST00000034272.9
      Conserved Domains (1) summary
      pfam10240
      Location:9 → 259
      DUF2464; Protein of unknown function (DUF2464)

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      71995552..72000670
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030243804.2 → XP_030099664.1  multivesicular body subunit 12A isoform X1

      Conserved Domains (1) summary
      pfam10240
      Location:1 → 157
      DUF2464; Multivesicular body subunit 12

    2. XM_011242330.4 → XP_011240632.2  multivesicular body subunit 12A isoform X1

      Conserved Domains (1) summary
      pfam10240
      Location:1 → 157
      DUF2464; Multivesicular body subunit 12
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q78HU3.1 GenPept UniProtKB/Swiss-Prot:Q78HU3

    Gene LinkOut

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

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