MVB12B - multivesicular body subunit 12B Gene

Also Known as C9orf28; FAM125B

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 89853

About MVB12B

This gene has 6 transcripts (splice variants) and 261 orthologues. Broad expression in brain (RPKM 8.1), lung (RPKM 5.2) and 23 other tissues.

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]

MVB12B Products (2)

mRNA Protein Name
NM_001011703.3 NP_001011703.1 multivesicular body subunit 12B isoform 2
NM_033446.3 NP_258257.1 multivesicular body subunit 12B isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Références Source
enables lipid binding IMP
IMP: Inferred from mutant phenotype
22232651 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
20654576 GOA
NOT enables ubiquitin binding IDA
IDA: Inferred from direct assay
20654576 GOA
Biological Process GO Annotation Evidence Références Source
involved in regulation of epidermal growth factor receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
20654576 GOA
involved in viral budding IMP
IMP: Inferred from mutant phenotype
18005716 GOA
involved in virus maturation IMP
IMP: Inferred from mutant phenotype
18005716 GOA
Cellular Component GO Annotation Evidence Références Source
part of ESCRT I complex IDA
IDA: Inferred from direct assay
18005716 GOA
part of ESCRT I complex IPI
IPI: Inferred from physical interaction
18005716 GOA
located in cytosol IDA
IDA: Inferred from direct assay
22232651 GOA
located in early endosome IDA
IDA: Inferred from direct assay
22232651 GOA
located in late endosome IDA
IDA: Inferred from direct assay
22232651 GOA
located in nucleus IDA
IDA: Inferred from direct assay
22232651 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
22232651 GOA
located in vesicle IDA
IDA: Inferred from direct assay
20654576 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MVB12B Protein Structure

DUF2464

DUF2464: Multivesicular body subunit 12 (48 - 299)

  • 0
  • 100
  • 200
  • 300
  • 319 a.a.
Protein Preferred Names Protein Names

multivesicular body subunit 12B

  • ESCRT-I complex subunit MVB12B

MVB12B Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
MVB12B Q9H7P6 LNX1 Homo sapiens Q8TBB1
Y2H Array
25416956
Intra
MVB12B Q9H7P6 LNX1 Homo sapiens Q8TBB1
Y2H Prey Pooling
25416956
Intra
MVB12B Q9H7P6 LNX1 Homo sapiens Q8TBB1
Validated Y2H
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Chronic Dacryocystitis
Glaucoma, Primary Open Angle

  • Glaucoma 1, Open Angle, E

  • Primary Open Angle Glaucoma

  • POAG

  • Adult-Onset Primary Open Angle Glaucoma

  • Chronic Simple Glaucoma

  • GLC1E

  • Primary Open Angle Glaucoma 1e

  • Glaucoma, Open Angle, Primary
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS08855 MVB12B Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus MVB12B RGD RGD:1309709
Felis catus MVB12B VGNC VGNC:63668
Bos taurus MVB12B VGNC VGNC:102829
Mus musculus MVB12B MGD MGI:1919793
Macaca mulatta MVB12B VGNC VGNC:75010
Canis familiaris MVB12B VGNC VGNC:43507
Others MVB12B NCBI