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

Gene ID: 93343, updated on 11-May-2025
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, May 2025]
Expression
Ubiquitous expression in ovary (RPKM 33.5), adrenal (RPKM 16.5) and 24 other tissues See more
Orthologs
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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

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Readthrough MVB12A

Included gene: BISPR

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 IEA
Inferred from Electronic Annotation
more info
 
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 IEA
Inferred from Electronic Annotation
more info
 
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 
located_in centrosome IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
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 IEA
Inferred from Electronic Annotation
more info
 
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 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 
Preferred Names
multivesicular body subunit 12A
Names
CIN85/CD2AP family binding protein
ESCRT-I complex subunit MVB12A
family with sequence similarity 125, member A

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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_001304547.2NP_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:1169
    DUF2464; Protein of unknown function (DUF2464)
  2. NM_138401.4NP_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:11261
    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)