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MVB12B multivesicular body subunit 12B [ Homo sapiens (human) ]

Gene ID: 89853, updated on 17-Jun-2019

Summary

Official Symbol
MVB12Bprovided by HGNC
Official Full Name
multivesicular body subunit 12Bprovided by HGNC
Primary source
HGNC:HGNC:23368
See related
Ensembl:ENSG00000196814
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C9orf28; FAM125B
Summary
The protein encoded by this gene is a component of the ESCRT-I complex, a heterotetramer, which mediates the sorting of ubiquitinated cargo protein from the plasma membrane to the endosomal vesicle. ESCRT-I complex plays an essential role in HIV budding and endosomal protein sorting. Depletion and overexpression of this and related protein (MVB12A) inhibit HIV-1 infectivity and induce unusual viral assembly defects, indicating a role for MVB12 subunits in regulating ESCRT-mediated virus budding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Expression
Broad expression in brain (RPKM 8.1), lung (RPKM 5.2) and 23 other tissues See more
Orthologs

Genomic context

See MVB12B in Genome Data Viewer
Location:
9q33.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (126326829..126507040)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (129089123..129269320)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376275 Neighboring gene uncharacterized LOC101929116 Neighboring gene VISTA enhancer hs186 Neighboring gene non-coding repressor of NFAT Neighboring gene uncharacterized LOC105376276 Neighboring gene uncharacterized LOC105376277

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
nucleocapsid gag GST-fused NCp6 fragment binds ESCRT-I subunits such as MVB12B, VPS37B, VPS28, and TSG101 PubMed
p6 gag GST-fused NCp6 fragment binds ESCRT-I subunits such as MVB12B, VPS37B, VPS28, and TSG101 PubMed
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 BioSystems

  • ESCRT-I complex, organism-specific biosystem (from KEGG)
    ESCRT-I complex, organism-specific biosystemStructural complex; Genetic information processing; Protein processing
  • ESCRT-I complex, conserved biosystem (from KEGG)
    ESCRT-I complex, conserved biosystemStructural complex; Genetic information processing; Protein processing
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ00001

Gene Ontology Provided by GOA

Function Evidence Code Pubs
lipid binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
NOT ubiquitin binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
endosomal transport TAS
Traceable Author Statement
more info
 
intracellular transport of virus TAS
Traceable Author Statement
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of epidermal growth factor receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of epidermal growth factor receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway IC
Inferred by Curator
more info
PubMed 
viral budding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
viral budding IMP
Inferred from Mutant Phenotype
more info
PubMed 
viral life cycle TAS
Traceable Author Statement
more info
 
virus maturation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
virus maturation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
ESCRT I complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ESCRT I complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
endosome membrane TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
host cell IEA
Inferred from Electronic Annotation
more info
 
late endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
late endosome IDA
Inferred from Direct Assay
more info
PubMed 
late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
vesicle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
multivesicular body subunit 12B
Names
ESCRT-I complex subunit MVB12B
family with sequence similarity 125, member B

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_029787.1 RefSeqGene

    Range
    5001..185198
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001011703.3NP_001011703.1  multivesicular body subunit 12B isoform 2

    See identical proteins and their annotated locations for NP_001011703.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs at the 3' end compared to variant 1. This results in a shorter isoform (2) with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC006443, BC000122, BC028675, BC041601, DA339911
    Consensus CDS
    CCDS48022.1
    UniProtKB/Swiss-Prot
    Q9H7P6
    Related
    ENSP00000485994.1, ENST00000489637.3
    Conserved Domains (1) summary
    pfam10240
    Location:48220
    DUF2464; Multivesicular body subunit 12
  2. NM_033446.3NP_258257.1  multivesicular body subunit 12B isoform 1

    See identical proteins and their annotated locations for NP_258257.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript, and encodes the longer isoform (1).
    Source sequence(s)
    AC006443
    Consensus CDS
    CCDS35142.1
    UniProtKB/Swiss-Prot
    Q9H7P6
    UniProtKB/TrEMBL
    A0A024R8B8
    Related
    ENSP00000354772.3, ENST00000361171.8
    Conserved Domains (1) summary
    pfam10240
    Location:48299
    DUF2464; Multivesicular body subunit 12

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    126326829..126507040
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017015278.2XP_016870767.1  multivesicular body subunit 12B isoform X6

  2. XM_017015275.2XP_016870764.1  multivesicular body subunit 12B isoform X1

  3. XM_017015277.2XP_016870766.1  multivesicular body subunit 12B isoform X5

  4. XM_005252297.1XP_005252354.1  multivesicular body subunit 12B isoform X4

    See identical proteins and their annotated locations for XP_005252354.1

    Conserved Domains (1) summary
    pfam10240
    Location:33284
    DUF2464; Protein of unknown function (DUF2464)
  5. XM_017015276.1XP_016870765.1  multivesicular body subunit 12B isoform X2

  6. XM_024447711.1XP_024303479.1  multivesicular body subunit 12B isoform X3

    Conserved Domains (1) summary
    pfam10240
    Location:17223
    DUF2464; Multivesicular body subunit 12
  7. XM_017015279.1XP_016870768.1  multivesicular body subunit 12B isoform X7

RNA

  1. XR_929872.3 RNA Sequence

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