• Gene id: 26276

Gene Summary

• Gene Symbol: VPS33B   Gene   UCSC   Ensembl
• Gene name: VPS33B late endosome and lysosome associated
• Alternate names: vacuolar protein sorting-associated protein 33B, vacuolar protein sorting 33 homolog B, vacuolar protein sorting 33-like protein B,
• Gene location: 15q26.1 (104924300: 104937788)     Exons: 11     NC_000014.9
• Gene summary(Entrez): Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuol
• OMIM: 608552

Protein Summary

• Protein general information: Q9H267  
  • Name: Vacuolar protein sorting associated protein 33B (hVPS33B)
  • Length: 617  
  • Mass: 70585
  • Tissue specificity: Ubiquitous; highly expressed in testis and low expression in the lung.
• Sequence:

  MAFPHRPDAPELPDFSMLKRLARDQLIYLLEQLPGKKDLFIEADLMSPLDRIANVSILKQHEVDKLYKVENKPAL
  SSNEQLCFLVRPRIKNMRYIASLVNADKLAGRTRKYKVIFSPQKFYACEMVLEEEGIYGDVSCDEWAFSLLPLDV
  DLLSMELPEFFRDYFLEGDQRWINTVAQALHLLSTLYGPFPNCYGIGRCAKMAYELWRNLEEEEDGETKGRRPEI
  GHIFLLDRDVDFVTALCSQVVYEGLVDDTFRIKCGSVDFGPEVTSSDKSLKVLLNAEDKVFNEIRNEHFSNVFGF
  LSQKARNLQAQYDRRRGMDIKQMKNFVSQELKGLKQEHRLLSLHIGACESIMKKKTKQDFQELIKTEHALLEGFN
  IRESTSYIEEHIDRQVSPIESLRLMCLLSITENGLIPKDYRSLKTQYLQSYGPEHLLTFSNLRRAGLLTEQAPGD
  TLTAVESKVSKLVTDKAAGKITDAFSSLAKRSNFRAISKKLNLIPRVDGEYDLKVPRDMAYVFGGAYVPLSCRII
  EQVLERRSWQGLDEVVRLLNCSDFAFTDMTKEDKASSESLRLILVVFLGGCTFSEISALRFLGREKGYRFIFLTT
  AVTNSARLMEAMSEVKA

• Structural information:
  • Interpro: IPR027482  IPR001619  IPR036045  IPR027121  
  • STRING: ENSP00000327650
• Other Databases: GeneCards:  VPS33B  Malacards:  VPS33B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0006886	intracellular protein transport	IBA	biological process
GO:0033263	CORVET complex	IBA	cellular component
GO:0005764	lysosome	IBA	cellular component
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0031901	early endosome membrane	IDA	cellular component
GO:0030897	HOPS complex	IDA	NOT|cellular component
GO:0030136	clathrin-coated vesicle	IDA	cellular component
GO:0008333	endosome to lysosome transport	IMP	NOT|biological process
GO:0007032	endosome organization	IMP	biological process
GO:0097352	autophagosome maturation	IMP	NOT|biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0006904	vesicle docking involved in exocytosis	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016192	vesicle-mediated transport	IDA	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:0005765	lysosomal membrane	IEA	cellular component
GO:0055037	recycling endosome	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0044877	protein-containing complex binding	IPI	molecular function
GO:0044877	protein-containing complex binding	IPI	molecular function
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0032400	melanosome localization	IDA	biological process
GO:0030897	HOPS complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0032418	lysosome localization	IDA	biological process
GO:0005764	lysosome	IDA	cellular component
GO:0031091	platelet alpha granule	IDA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0070889	platelet alpha granule organization	IMP	biological process
GO:0015031	protein transport	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0061025	membrane fusion	IMP	biological process

Diseases

Associated diseases	References
Arthrogryposis, renal dysfunction, and cholestasis	KEGG:H00950
Arthrogryposis, renal dysfunction, and cholestasis	KEGG:H00950
Cholestasis	PMID:15052268
Kidney disease	PMID:15052268
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)