• Gene id: 51534

Gene Summary

• Gene Symbol: VTA1   Gene   UCSC   Ensembl
• Aliases: C6orf55, DRG-1, DRG1, HSPC228, LIP5, My012, SBP1
• Gene name: vesicle trafficking 1
• Alternate names: vacuolar protein sorting-associated protein VTA1 homolog, LYST-interacting protein 5, SKD1-binding protein 1, Vps20-associated 1 homolog, dopamine-responsive gene 1 protein, homolog of mouse SKD1-binding protein 1, vesicle (multivesicular body) trafficking 1,
• Gene location: 6q24.1-q24.2 (142147161: 142224684)     Exons: 8     NC_000006.12
• Gene summary(Entrez): C6ORF55 encodes a protein involved in trafficking of the multivesicular body, an endosomal compartment involved in sorting membrane proteins for degradation in lysosomes (Ward et al., 2005 [PubMed 15644320]).[supplied by OMIM, Mar 2008]
• OMIM: 610902

Protein Summary

• Protein general information: Q9NP79  
  • Name: Vacuolar protein sorting associated protein VTA1 homolog (Dopamine responsive gene 1 protein) (DRG 1) (LYST interacting protein 5) (LIP5) (SKD1 binding protein 1) (SBP1)
  • Length: 307  
  • Mass: 33879
• Sequence:

  MAALAPLPPLPAQFKSIQHHLRTAQEHDKRDPVVAYYCRLYAMQTGMKIDSKTPECRKFLSKLMDQLEALKKQLG
  DNEAITQEIVGCAHLENYALKMFLYADNEDRAGRFHKNMIKSFYTASLLIDVITVFGELTDENVKHRKYARWKAT
  YIHNCLKNGETPQAGPVGIEEDNDIEENEDAGAASLPTQPTQPSSSSTYDPSNMPSGNYTGIQIPPGAHAPANTP
  AEVPHSTGVASNTIQPTPQTIPAIDPALFNTISQGDVRLTPEDFARAQKYCKYAGSALQYEDVSTAVQNLQKALK
  LLTTGRE

• Structural information:
  • Interpro: IPR023175  IPR039431  IPR041212  
  • PDB: 2LXL 2LXM 4TXP 4TXQ 4TXR 4U7E
  • PDBsum: 2LXL 2LXM 4TXP 4TXQ 4TXR 4U7E
  • STRING: ENSP00000356602
• Other Databases: GeneCards:  VTA1  Malacards:  VTA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1904903	ESCRT III complex disassembly	NAS	biological process
GO:0036258	multivesicular body assembly	NAS	biological process
GO:0016236	macroautophagy	NAS	biological process
GO:0032511	late endosome to vacuole transport via multivesicular body sorting pathway	IBA	biological process
GO:0005771	multivesicular body	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016197	endosomal transport	TAS	biological process
GO:0019058	viral life cycle	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0046755	viral budding	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0071985	multivesicular body sorting pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881