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

Gene ID: 93343, updated on 7-Sep-2023

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; viral budding; and virus maturation. Located in several cellular components, including Golgi apparatus; centrosome; and nucleoplasm. Part of ESCRT I complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary (RPKM 33.5), adrenal (RPKM 16.5) and 24 other tissues See more
Orthologs
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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_2023_03 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (17405741..17425332)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (17540476..17560094)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17516550..17536141)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 194 Neighboring gene CRISPRi-validated cis-regulatory element chr19.2705 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17515618-17516356 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 high mobility group box 3 pseudogene 29 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17534662-17535187 Neighboring gene transmembrane protein 221 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
  • 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 (38) 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
 PubMed 
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
 PubMed 
involved_in regulation of epidermal growth factor receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
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
 PubMed 
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
 PubMed 
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
 PubMed 
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
 PubMed 
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
    A0A024R7L6, 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_2023_03

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

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