• Gene id: 63894

Gene Summary

• Gene Symbol: VIPAS39   Gene   UCSC   Ensembl
• Aliases: C14orf133, SPE-39, SPE39, VIPAR, VPS16B, hSPE-39
• Gene name: VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
• Alternate names: spermatogenesis-defective protein 39 homolog, VPS33B-interacting protein involved in polarity and apical protein restriction,
• Gene location: 14q24.3 (218568392: 218450250)     Exons: 27     NC_000002.12
• Gene summary(Entrez): This gene encodes a protein involved in the sorting of lysosomal proteins. Mutations in this gene are associated with ARCS2 (arthrogryposis, renal dysfunction, and cholestasis-2). Alternative splicing results in multiple transcript variants.[provided by R
• OMIM: 613401

Protein Summary

• Protein general information: Q9H9C1  
  • Name: Spermatogenesis defective protein 39 homolog (hSPE 39) (VPS33B interacting protein in apical basolateral polarity regulator) (VPS33B interacting protein in polarity and apical restriction)
  • Length: 493  
  • Mass: 57005
• Sequence:

  MNRTKGDEEEYWNSSKFKAFTFDDEDDELSQLKESKRAVNSLRDFVDDDDDDDLERVSWSGEPVGSISWSIRETA
  GNSGSTHEGREQLKSRNSFSSYAQLPKPTSTYSLSSFFRGRTRPGSFQSLSDALSDTPAKSYAPELGRPKGEYRD
  YSNDWSPSDTVRRLRKGKVCSLERFRSLQDKLQLLEEAVSMHDGNVITAVLIFLKRTLSKEILFRELEVRQVALR
  HLIHFLKEIGDQKLLLDLFRFLDRTEELALSHYREHLNIQDPDKRKEFLKTCVGLPFSAEDSAHIQDHYTLLERQ
  IIIEANDRHLESAGQTEIFRKHPRKASILNMPLVTTLFYSCFYHYTEAEGTFSSPVNLKKTFKIPDKQYVLTALA
  ARAKLRAWNDVDALFTTKNWLGYTKKRAPIGFHRVVEILHKNNAPVQILQEYVNLVEDVDTKLNLATKFKCHDVV
  IDTYRDLKDRQQLLAYRSKVDKGSAEEEKIDALLSSSQIRWKN

• Structural information:
  • Interpro: IPR040057  IPR006925  IPR038132  
  • STRING: ENSP00000452181
• Other Databases: GeneCards:  VIPAS39  Malacards:  VIPAS39

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030897	HOPS complex	IDA	NOT|cellular component
GO:0008333	endosome to lysosome transport	IMP	NOT|biological process
GO:0097352	autophagosome maturation	IMP	NOT|biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006886	intracellular protein transport	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0032963	collagen metabolic process	IMP	biological process
GO:0017185	peptidyl-lysine hydroxylation	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: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:0043687	post-translational protein modification	IEA	biological process
GO:0032963	collagen metabolic process	IEA	biological process
GO:0017185	peptidyl-lysine hydroxylation	IEA	biological process
GO:0030199	collagen fibril organization	IEA	biological process
GO:0006886	intracellular protein transport	IEA	biological process
GO:0005769	early endosome	IEA	cellular component
GO:0055037	recycling endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0055037	recycling endosome	IDA	cellular component
GO:0044877	protein-containing complex binding	IDA	molecular function
GO:0005770	late endosome	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006886	intracellular protein transport	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008333	endosome to lysosome transport	IMP	biological process

Diseases

Associated diseases	References
Arthrogryposis, renal dysfunction, and cholestasis	KEGG:H00950
Arthrogryposis, renal dysfunction, and cholestasis	KEGG:H00950
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881