MVB12A (multivesicular body subunit 12A)

Download as csv Download as pdf

Log in to bookmark this gene

Bookmark This Gene

Title Project / Tag (optional) Note (optional)

Cancel Save

On this page

Gene miRNA Gene ontology Other IDs Protein Pathways Related genes Diseases linked via similar genes

Gene

• Entrez ID: 93343
• Gene name: Multivesicular body subunit 12A
• Gene symbol: MVB12A
• Synonyms (NCBI Gene): CFBP, FAM125A
• Chromosome: 19
• Chromosome location: 19p13.11

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022641	hsa-miR-124-3p	Microarray	18668037

Gene ontology (GO) Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000813	Component	ESCRT I complex	IBA
GO:0000813	Component	ESCRT I complex	IDA	18005716, 20654576, 22232651
GO:0000813	Component	ESCRT I complex	IEA
GO:0000813	Component	ESCRT I complex	IPI	18005716, 32424346
GO:0000813	Component	ESCRT I complex	TAS	20588296
GO:0005515	Function	Protein binding	IPI	18005716, 20654576, 28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005813	Component	Centrosome	IDA	18005716
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	20654576
GO:0005856	Component	Cytoskeleton	IEA
GO:0008289	Function	Lipid binding	IMP	22232651
GO:0010008	Component	Endosome membrane	NAS	32424346
GO:0010008	Component	Endosome membrane	TAS
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016236	Process	Macroautophagy	TAS	20588296
GO:0017124	Function	SH3 domain binding	IEA
GO:0019075	Process	Virus maturation	IBA
GO:0019075	Process	Virus maturation	IMP	18005716
GO:0031902	Component	Late endosome membrane	IEA
GO:0031982	Component	Vesicle	IDA	20654576
GO:0032510	Process	Endosome to lysosome transport via multivesicular body sorting pathway	IBA
GO:0032801	Process	Receptor catabolic process	IBA
GO:0036258	Process	Multivesicular body assembly	NAS	32424346
GO:0036258	Process	Multivesicular body assembly	TAS	20588296
GO:0039702	Process	Viral budding via host ESCRT complex	TAS	20588296
GO:0042058	Process	Regulation of epidermal growth factor receptor signaling pathway	IBA
GO:0042058	Process	Regulation of epidermal growth factor receptor signaling pathway	IMP	20654576
GO:0043130	Function	Ubiquitin binding	IMP	20654576
GO:0043162	Process	Ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IC	20654576
GO:0043328	Process	Protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	NAS	32424346
GO:0046755	Process	Viral budding	IBA
GO:0046755	Process	Viral budding	IMP	18005716
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0090148	Process	Membrane fission	NAS	32424346

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q96EY5
• Protein name: Multivesicular body subunit 12A (CIN85/CD2AP family-binding protein) (ESCRT-I complex subunit MVB12A) (Protein FAM125A)
• Protein function: Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in the ligand-mediated internalization and down-regulation of
• PDB: 6VME
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10240	DUF2464	10 → 261	Multivesicular body subunit 12	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed except in skeletal muscle. {ECO:0000269|PubMed:16895919}.
• Sequence:

  MDPVPGTDSAPLAGLAWSSASAPPPRGFSAISCTVEGAPASFGKSFAQKSGYFLCLSSLG
  SLENPQENVVADIQIVVDKSPLPLGFSPVCDPMDSKASVSKKKRMCVKLLPLGATDTAVF
  DVRLSGKTKTVPGYLRIGDMGGFAIWCKKAKAPRPVPKPRGLSRDMQGLSLDAASQPSKG
  GLLERTASRLGSRASTLRRNDSIYEASSLYGISAMDGVPFTLHPRFEGKSCSPLAFSAFG
  DLTIKSLADIEEEYNYGFVVEKTAAARLPPSVS

• Sequence length: 273

Pathways

KEGG Pathway	Reactome Pathway
Endocytosis	Budding and maturation of HIV virion
	Membrane binding and targetting of GAG proteins
	Endosomal Sorting Complex Required For Transport (ESCRT)
	HCMV Late Events

Related Genes

Sort by: Blended Diseases Pathways Evidence source

VPS37A 5 shared pathwaysEndocytosis, Budding and maturation of HIV virion, Endosomal Sorting Complex Required For Transport (ESCRT), HCMV Late Events, Membrane binding and targetting of GAG proteins Related via 5 shared pathways including Endocytosis, Budding and maturation of HIV virion. VPS37D 5 shared pathwaysEndocytosis, Budding and maturation of HIV virion, Endosomal Sorting Complex Required For Transport (ESCRT), HCMV Late Events, Membrane binding and targetting of GAG proteins Related via 5 shared pathways including Endocytosis, Budding and maturation of HIV virion. VPS28 5 shared pathwaysEndocytosis, Budding and maturation of HIV virion, Endosomal Sorting Complex Required For Transport (ESCRT), HCMV Late Events, Membrane binding and targetting of GAG proteins Related via 5 shared pathways including Endocytosis, Budding and maturation of HIV virion. VPS37C 5 shared pathwaysEndocytosis, Budding and maturation of HIV virion, Endosomal Sorting Complex Required For Transport (ESCRT), HCMV Late Events, Membrane binding and targetting of GAG proteins Related via 5 shared pathways including Endocytosis, Budding and maturation of HIV virion. VPS37B 5 shared pathwaysEndocytosis, Budding and maturation of HIV virion, Endosomal Sorting Complex Required For Transport (ESCRT), HCMV Late Events, Membrane binding and targetting of GAG proteins Related via 5 shared pathways including Endocytosis, Budding and maturation of HIV virion.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
VPS37A	0	[]	5	["Endocytosis","Budding and maturation of HIV virion","Endosomal Sorting Complex Required For Transport (ESCRT)","HCMV Late Events","Membrane binding and targetting of GAG proteins"]	0	[]
VPS37D	0	[]	5	["Endocytosis","Budding and maturation of HIV virion","Endosomal Sorting Complex Required For Transport (ESCRT)","HCMV Late Events","Membrane binding and targetting of GAG proteins"]	0	[]
VPS28	0	[]	5	["Endocytosis","Budding and maturation of HIV virion","Endosomal Sorting Complex Required For Transport (ESCRT)","HCMV Late Events","Membrane binding and targetting of GAG proteins"]	0	[]
VPS37C	0	[]	5	["Endocytosis","Budding and maturation of HIV virion","Endosomal Sorting Complex Required For Transport (ESCRT)","HCMV Late Events","Membrane binding and targetting of GAG proteins"]	0	[]
VPS37B	0	[]	5	["Endocytosis","Budding and maturation of HIV virion","Endosomal Sorting Complex Required For Transport (ESCRT)","HCMV Late Events","Membrane binding and targetting of GAG proteins"]	0	[]

Diseases Linked via Similar Genes

Atrial fibrillation Linked via 2 of 5 related genesVPS37D, VPS37B Spastic paraplegia Linked via 1 of 5 related genesVPS37A Paraplegia Linked via 1 of 5 related genesVPS37A Hereditary spastic paraplegia Linked via 1 of 5 related genesVPS37A complex hereditary spastic paraplegia Linked via 1 of 5 related genesVPS37A

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Atrial fibrillation	2	["VPS37D","VPS37B"]
Spastic paraplegia	1	["VPS37A"]
Paraplegia	1	["VPS37A"]
Hereditary spastic paraplegia	1	["VPS37A"]
complex hereditary spastic paraplegia	1	["VPS37A"]