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

Gene ID: 93343, updated on 8-Aug-2021

Summary

Official Symbol
MVB12Aprovided by HGNC
Official Full Name
multivesicular body subunit 12Aprovided by HGNC
Primary source
HGNC:HGNC:25153
See related
Ensembl:ENSG00000141971
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
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

See MVB12A in Genome Data Viewer
Location:
19p13.11
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (17405741..17425332)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17516550..17536141)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr19.2705 Neighboring gene bone marrow stromal cell antigen 2 Neighboring gene BST2 interferon stimulated positive regulator Neighboring gene high mobility group box 3 pseudogene 29 Neighboring gene transmembrane protein 221 Neighboring gene nucleoredoxin like 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
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 TAS
Traceable Author Statement
more info
PubMed 
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 
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 TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in vesicle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_001304547.2NP_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
    UniProtKB/TrEMBL
    A0A024R7L6
    Related
    ENSP00000324810.6, ENST00000317040.12
    Conserved Domains (1) summary
    pfam10240
    Location:11261
    DUF2464; Multivesicular body subunit 12

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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