• Gene id: 93343

Gene Summary

• Gene Symbol: MVB12A   Gene   UCSC   Ensembl
• Aliases: CFBP, FAM125A
• Gene name: multivesicular body subunit 12A
• Alternate names: multivesicular body subunit 12A, CIN85/CD2AP family binding protein, ESCRT-I complex subunit MVB12A, family with sequence similarity 125, member A,
• Gene location: 19p13.11 (17405740: 17425331)     Exons: 11     NC_000019.10
• OMIM: 608050

Protein Summary

• Protein general information: Q96EY5  
  • Name: Multivesicular body subunit 12A (CIN85/CD2AP family binding protein) (ESCRT I complex subunit MVB12A) (Protein FAM125A)
  • Length: 273  
  • Mass: 28783
  • Tissue specificity: Ubiquitously expressed except in skeletal muscle. {ECO
• Sequence:

  MDPVPGTDSAPLAGLAWSSASAPPPRGFSAISCTVEGAPASFGKSFAQKSGYFLCLSSLGSLENPQENVVADIQI
  VVDKSPLPLGFSPVCDPMDSKASVSKKKRMCVKLLPLGATDTAVFDVRLSGKTKTVPGYLRIGDMGGFAIWCKKA
  KAPRPVPKPRGLSRDMQGLSLDAASQPSKGGLLERTASRLGSRASTLRRNDSIYEASSLYGISAMDGVPFTLHPR
  FEGKSCSPLAFSAFGDLTIKSLADIEEEYNYGFVVEKTAAARLPPSVS

• Structural information:
  • Protein Domains: (9..15-)
    (/note="MABP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00831-)
    (215..26-)
    (/note="UMA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00830"-)
  • Interpro: IPR023341  IPR040335  IPR018798  IPR023340  
  • Prosite: PS51498 PS51497
  • STRING: ENSP00000324810
• Other Databases: GeneCards:  MVB12A  Malacards:  MVB12A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000813	ESCRT I complex	TAS	cellular component
GO:0036258	multivesicular body assembly	TAS	biological process
GO:0016236	macroautophagy	TAS	biological process
GO:0039702	viral budding via host ESCRT complex	TAS	biological process
GO:0046755	viral budding	IBA	biological process
GO:0042058	regulation of epidermal growth factor receptor signaling pathway	IBA	biological process
GO:0032801	receptor catabolic process	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0000813	ESCRT I complex	IBA	cellular component
GO:0032510	endosome to lysosome transport via multivesicular body sorting pathway	IBA	biological process
GO:0019075	virus maturation	IBA	biological process
GO:0000813	ESCRT I complex	IEA	cellular component
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0016197	endosomal transport	TAS	biological process
GO:0019058	viral life cycle	TAS	biological process
GO:0075733	intracellular transport of virus	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031902	late endosome membrane	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0043657	host cell	IEA	cellular component
GO:0043162	ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IC	biological process
GO:0031982	vesicle	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0000813	ESCRT I complex	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0000813	ESCRT I complex	IDA	cellular component
GO:0000813	ESCRT I complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0042058	regulation of epidermal growth factor receptor signaling pathway	IMP	biological process
GO:0008289	lipid binding	IMP	molecular function
GO:0046755	viral budding	IMP	biological process
GO:0043130	ubiquitin binding	IMP	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0019075	virus maturation	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881