• Gene id: 55275

Gene Summary

• Gene Symbol: VPS53   Gene   UCSC   Ensembl
• Aliases: HCCS1, PCH2E, hVps53L, pp13624
• Gene name: VPS53 subunit of GARP complex
• Alternate names: vacuolar protein sorting-associated protein 53 homolog, VPS53, GARP complex subunit,
• Gene location: 17p13.3 (714845: 508667)     Exons: 27     NC_000017.11
• Gene summary(Entrez): This gene encodes a protein with sequence similarity to the yeast Vps53p protein. Vps53p is involved in retrograde vesicle trafficking in late Golgi. [provided by RefSeq, Jul 2008]
• OMIM: 615850

Protein Summary

• Protein general information: Q5VIR6  
  • Name: Vacuolar protein sorting associated protein 53 homolog
  • Length: 699  
  • Mass: 79653
• Sequence:

  MMEEEELEFVEELEAVLQLTPEVQLAIEQVFPSQDPLDRADFNAVEYINTLFPTEQSLANIDEVVNKIRLKIRRL
  DDNIRTVVRGQTNVGQDGRQALEEAQKAIQQLFGKIKDIKDKAEKSEQMVKEITRDIKQLDHAKRHLTTSITTLN
  HLHMLAGGVDSLEAMTRRRQYGEVANLLQGVMNVLEHFHKYMGIPQIRQLSERVKAAQTELGQQILADFEEAFPS
  QGTKRPGGPSNVLRDACLVANILDPRIKQEIIKKFIKQHLSEYLVLFQENQDVAWLDKIDRRYAWIKRQLVDYEE
  KYGRMFPREWCMAERIAVEFCHVTRAELAKIMRTRAKEIEVKLLLFAIQRTTNFEGFLAKRFSGCTLTDGTLKKL
  ESPPPSTNPFLEDEPTPEMEELATEKGDLDQPKKPKAPDNPFHGIVSKCFEPHLYVYIESQDKNLGELIDRFVAD
  FKAQGPPKPNTDEGGAVLPSCADLFVYYKKCMVQCSQLSTGEPMIALTTIFQKYLREYAWKILSGNLPKTTTSSG
  GLTISSLLKEKEGSEVAKFTLEELCLICNILSTAEYCLATTQQLEEKLKEKVDVSLIERINLTGEMDTFSTVISS
  SIQLLVQDLDAACDPALTAMSKMQWQNVEHVGDQSPYVTSVILHIKQNVPIIRDNLASTRKYFTQFCVKFANSFI
  PKFITHLFKCKPISMVGAEQVRWT

• Structural information:
  • Interpro: IPR039766  IPR007234  
  • DIP: 59352
  • STRING: ENSP00000401435
• Other Databases: GeneCards:  VPS53  Malacards:  VPS53

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000938	GARP complex	IBA	cellular component
GO:0042147	retrograde transport, endosome to Golgi	IBA	biological process
GO:0055037	recycling endosome	IDA	cellular component
GO:1990745	EARP complex	IDA	cellular component
GO:0032456	endocytic recycling	IMP	biological process
GO:0042147	retrograde transport, endosome to Golgi	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000938	GARP complex	IEA	cellular component
GO:0042147	retrograde transport, endosome to Golgi	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:1990745	EARP complex	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0000938	GARP complex	IDA	cellular component
GO:0000938	GARP complex	IDA	cellular component
GO:0007041	lysosomal transport	IMP	biological process
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0055037	recycling endosome	IEA	cellular component
GO:0005802	trans-Golgi network	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0055037	recycling endosome	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Pontocerebellar hypoplasia	KEGG:H00897
Pontocerebellar hypoplasia	KEGG:H00897
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq