• Gene id: 55610

Gene Summary

• Gene Symbol: VPS50   Gene   UCSC   Ensembl
• Aliases: CCDC132, VPS54L
• Gene name: VPS50 subunit of EARP/GARPII complex
• Alternate names: syndetin, EARP/GARPII complex subunit VPS50, VPS50, EARP/GARPII complex subunit, coiled-coil domain containing 132, coiled-coil domain-containing protein 132,
• Gene location: 7q21.2-q21.3 (93232339: 93361122)     Exons: 31     NC_000007.14
• OMIM: 616465

Protein Summary

• Protein general information: Q96JG6  
  • Name: Syndetin (Coiled coil domain containing protein 132) (EARP/GARPII complex subunit VPS50)
  • Length: 964  
  • Mass: 111174
  • Tissue specificity: Ubiquitous, with higher expression in brain and skeletal muscle. {ECO
• Sequence:

  MQKIKSLMTRQGLKSPQESLSDLGAIESLRVPGKEEFRELREQPSDPQAEQELINSIEQVYFSVDSFDIVKYELE
  KLPPVLNLQELEAYRDKLKQQQAAVSKKVADLILEKQPAYVKELERVTSLQTGLQLAAVICTNGRRHLNIAKEGF
  TQASLGLLANQRKRQLLIGLLKSLRTIKTLQRTDVRLSEMLEEEDYPGAIQLCLECQKAASTFKHYSCISELNSK
  LQDTLEQIEEQLDVALSKICKNFDINHYTKVQQAYRLLGKTQTAMDQLHMHFTQAIHNTVFQVVLGYVELCAGNT
  DTKFQKLQYKDLCTHVTPDSYIPCLADLCKALWEVMLSYYRTMEWHEKHDNEDTASASEGSNMIGTEETNFDRGY
  IKKKLEHGLTRIWQDVQLKVKTYLLGTDLSIFKYDDFIFVLDIISRLMQVGEEFCGSKSEVLQESIRKQSVNYFK
  NYHRTRLDELRMFLENETWELCPVKSNFSILQLHEFKFMEQSRSPSVSPSKQPVSTSSKTVTLFEQYCSGGNPFE
  IQANHKDEETEDVLASNGYESDEQEKSAYQEYDSDSDVPEELKRDYVDEQTGDGPVKSVSRETLKSRKKSDYSLN
  KVNAPILTNTTLNVIRLVGKYMQMMNILKPIAFDVIHFMSQLFDYYLYAIYTFFGRNDSLESTGLGLSSSRLRTT
  LNRIQESLIDLEVSADPTATLTAAEERKEKVPSPHLSHLVVLTSGDTLYGLAERVVATESLVFLAEQFEFLQPHL
  DAVMPAVKKPFLQQFYSQTVSTASELRKPIYWIVAGKALDYEQMLLLMANVKWDVKEIMSQHNIYVDALLKEFEQ
  FNRRLNEVSKRVRIPLPVSNILWEHCIRLANRTIVEGYANVKKCSNEGRALMQLDFQQFLMKLEKLTDIRPIPDK
  EFVETYIKAYYLTENDMERWIKEHREYSTKQLTNLVNVCLGSHINKKARQKLLAAIDDIDRPKR

• Structural information:
  • Interpro: IPR019514  IPR040047  IPR019515  
  • DIP: 61628
  • STRING: ENSP00000307666
• Other Databases: GeneCards:  VPS50  Malacards:  VPS50

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0055037	recycling endosome	IDA	cellular component
GO:1990745	EARP complex	IDA	cellular component
GO:0032456	endocytic recycling	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042147	retrograde transport, endosome to Golgi	IMP	NOT|biological process
GO:0032456	endocytic recycling	IEA	biological process
GO:1990745	EARP complex	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0032456	endocytic recycling	IDA	biological process
GO:0000149	SNARE binding	IDA	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:0032456	endocytic recycling	IEA	biological process
GO:0055037	recycling endosome	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray