• Gene id: 89853

Gene Summary

• Gene Symbol: MVB12B   Gene   UCSC   Ensembl
• Aliases: C9orf28, FAM125B
• Gene name: multivesicular body subunit 12B
• Alternate names: multivesicular body subunit 12B, ESCRT-I complex subunit MVB12B, family with sequence similarity 125, member B,
• Gene location: 9q33.3 (126326828: 126507039)     Exons: 16     NC_000009.12
• Gene summary(Entrez): 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 a
• OMIM: 602146

Protein Summary

• Protein general information: Q9H7P6  
  • Name: Multivesicular body subunit 12B (ESCRT I complex subunit MVB12B) (Protein FAM125B)
  • Length: 319  
  • Mass: 35620
• Sequence:

  MRSCFCVRRSRDPPPPQPPPPPPQRGTDQSTMPEVKDLSEALPETSMDPITGVGVVASRNRAPTGYDVVAQTADG
  VDADLWKDGLFKSKVTRYLCFTRSFSKENSHLGNVLVDMKLIDIKDTLPVGFIPIQETVDTQEVAFRKKRLCIKF
  IPRDSTEAAICDIRIMGRTKQAPPQYTFIGELNSMGIWYRMGRVPRNHDSSQPTTPSQSSAASTPAPNLPRHISL
  TLPATFRGRNSTRTDYEYQHSNLYAISAMDGVPFMISEKFSCVPESMQPFDLLGITIKSLAEIEKEYEYSFRTEQ
  SAAARLPPSPTRCQQIPQS

• Structural information:
  • Protein Domains: (47..19-)
    (/note="MABP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00831-)
    (254..30-)
    (/note="UMA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00830"-)
  • Interpro: IPR023341  IPR018798  IPR040297  IPR023340  
  • Prosite: PS51498 PS51497
  • PDB: 3TOW
  • PDBsum: 3TOW
  • STRING: ENSP00000354772
• Other Databases: GeneCards:  MVB12B  Malacards:  MVB12B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046755	viral budding	IBA	biological process
GO:0042058	regulation of epidermal growth factor receptor signaling pathway	IBA	biological process
GO:0000813	ESCRT I complex	IBA	cellular component
GO:0019075	virus maturation	IBA	biological process
GO:0005770	late endosome	IBA	cellular component
GO:0000813	ESCRT I complex	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
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:0031902	late endosome membrane	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0043657	host cell	IEA	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:0043130	ubiquitin binding	IDA	NOT|molecular function
GO:0005770	late endosome	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005634	nucleus	IDA	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:0005886	plasma membrane	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0042058	regulation of epidermal growth factor receptor signaling pathway	IMP	biological process
GO:0008289	lipid binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046755	viral budding	IMP	biological process
GO:0019075	virus maturation	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq