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    MVB12A multivesicular body subunit 12A [ Homo sapiens (human) ]

    Gene ID: 93343, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MVB12Aprovided by HGNC
    Official Full Name
    multivesicular body subunit 12Aprovided by HGNC
    Primary source
    HGNC:HGNC:25153
    See related
    Ensembl:ENSG00000141971 AllianceGenome:HGNC:25153
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CFBP; FAM125A
    Summary
    Enables lipid binding activity and ubiquitin binding activity. Involved in regulation of epidermal growth factor receptor signaling pathway. Located in several cellular components, including centrosome; cytosol; and vesicle. Part of ESCRT I complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 33.5), adrenal (RPKM 16.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MVB12A in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (17405741..17425332)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (17540476..17560094)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17516550..17536141)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10341 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10342 Neighboring gene coiled-coil domain containing 194 Neighboring gene CRISPRi-validated cis-regulatory element chr19.2705 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:17513926-17514094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17515618-17516356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14267 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14271 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17518151-17518677 Neighboring gene bone marrow stromal cell antigen 2 Neighboring gene BST2 interferon stimulated positive regulator Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:17525723-17526510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14272 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10343 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10344 Neighboring gene high mobility group box 3 pseudogene 29 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17534662-17535187 Neighboring gene transmembrane protein 221 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10345 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17571641-17572141 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. CFBP is a novel tyrosine-phosphorylated protein that might function as a regulator of CIN85/CD2AP. Konishi H, et al. J Biol Chem, 2006 Sep 29. PMID 16895919
    2. The molecular basis for selective assembly of the UBAP1-containing endosome-specific ESCRT-I complex. Wunderley L, et al. J Cell Sci, 2014 Feb 1. PMID 24284069, Free PMC Article
    3. A helical assembly of human ESCRT-I scaffolds reverse-topology membrane scission. Flower TG, et al. Nat Struct Mol Biol, 2020 Jun. PMID 32424346, Free PMC Article
    4. Structural basis for membrane targeting by the MVB12-associated β-prism domain of the human ESCRT-I MVB12 subunit. Boura E, et al. Proc Natl Acad Sci U S A, 2012 Feb 7. PMID 22232651, Free PMC Article
    5. Distinct functions of human MVB12A and MVB12B in the ESCRT-I dependent on their posttranslational modifications. Tsunematsu T, et al. Biochem Biophys Res Commun, 2010 Aug 20. PMID 20654576

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A helical assembly of human ESCRT-I scaffolds reverse-topology membrane scission.
      Title: A helical assembly of human ESCRT-I scaffolds reverse-topology membrane scission.
    2. These results suggest that the expression of MVB12B may be normally suppressed through the ubiquitin-proteasome pathway that simultaneously regulates the fate of MVB12A and the functions of ESCRT-I.
      Title: Distinct functions of human MVB12A and MVB12B in the ESCRT-I dependent on their posttranslational modifications.
    3. CFBP is a novel tyrosine-phosphorylated protein that might function as a regulator of CIN85/CD2AP
      Title: CFBP is a novel tyrosine-phosphorylated protein that might function as a regulator of CIN85/CD2AP.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    p6 gag ESCRT-I complexes contain three common subunits (TSG101, VPS28, and VPS37), and a fourth subunit MVB12. Recombinant ESCRT-I complexes bind HIV-1 p6 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough MVB12A

    Included gene: BISPR

    Homology

    Clone Names

    • FLJ18422, FLJ31061, FLJ32495

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables lipid binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 macroautophagy TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in membrane fission NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in multivesicular body assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in multivesicular body assembly TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in viral budding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in viral budding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in viral budding via host ESCRT complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in virus maturation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in virus maturation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of ESCRT I complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of ESCRT I complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of ESCRT I complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of ESCRT I complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endosome membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    multivesicular body subunit 12A
    Names
    CIN85/CD2AP family binding protein
    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_001304547.2 → NP_001291476.1  multivesicular body subunit 12A isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks exons in the 5' coding region which results in the use of a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1. This variant is a read-through transcript between the upstream non-coding locus (GeneID: 105221694) and the downstream MVB12A locus (GeneID: 93343).
      Source sequence(s)
      AC010319, BG684013, BP394542, BY996463
      Conserved Domains (1) summary
      pfam10240
      Location:1 → 169
      DUF2464; Protein of unknown function (DUF2464)

    2. NM_138401.4 → NP_612410.1  multivesicular body subunit 12A isoform 1

      See identical proteins and their annotated locations for NP_612410.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC011840, BP394542, CD672349
      Consensus CDS
      CCDS12359.1
      UniProtKB/Swiss-Prot
      Q96EY5, Q96I18
      UniProtKB/TrEMBL
      A8K0C2
      Related
      ENSP00000324810.6, ENST00000317040.12
      Conserved Domains (1) summary
      pfam10240
      Location:11 → 261
      DUF2464; Multivesicular body subunit 12

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      17405741..17425332
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      17540476..17560094
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96EY5.1 GenPept UniProtKB/Swiss-Prot:Q96EY5

    Gene LinkOut

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

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