MVB12B - multivesicular body subunit 12B Gene

Homo sapiens

Also known as C9orf28; FAM125B

Gene ID: 89853 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

0
100
200
300
319 a.a.

Protein Preferred Names

Protein Names

multivesicular body subunit 12B

ESCRT-I complex subunit MVB12B

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08855	MVB12B Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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