• Gene id: 23682

Gene Summary

• Gene Symbol: RAB38   Gene   UCSC   Ensembl
• Aliases: NY-MEL-1, rrGTPbp
• Gene name: RAB38, member RAS oncogene family
• Alternate names: ras-related protein Rab-38, Rab-related GTP-binding protein, melanoma antigen NY-MEL-1,
• Gene location: 11q14.2 (88175503: 87809489)     Exons: 6     NC_000011.10
• OMIM: 606281

Protein Summary

• Protein general information: P57729  
  • Name: Ras related protein Rab 38 (Melanoma antigen NY MEL 1)
  • Length: 211  
  • Mass: 23712
  • Tissue specificity: Expressed in melanocytes.
• Sequence:

  MQAPHKEHLYKLLVIGDLGVGKTSIIKRYVHQNFSSHYRATIGVDFALKVLHWDPETVVRLQLWDIAGQERFGNM
  TRVYYREAMGAFIVFDVTRPATFEAVAKWKNDLDSKLSLPNGKPVSVVLLANKCDQGKDVLMNNGLKMDQFCKEH
  GFVGWFETSAKENINIDEASRCLVKHILANECDLMESIEPDVVKPHLTSTKVASCSGCAKS

• Structural information:
  • Interpro: IPR027417  IPR030697  IPR005225  IPR001806  
  • Prosite: PS51419
  • CDD: cd04107
  • PDB: 6HDU
  • PDBsum: 6HDU
  • DIP: 60520
  • STRING: ENSP00000243662
• Other Databases: GeneCards:  RAB38  Malacards:  RAB38

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035612	AP-2 adaptor complex binding	IDA	NOT|molecular function
GO:0005764	lysosome	IDA	cellular component
GO:0031905	early endosome lumen	IDA	NOT|cellular component
GO:0030742	GTP-dependent protein binding	IPI	molecular function
GO:0030742	GTP-dependent protein binding	IPI	molecular function
GO:0030742	GTP-dependent protein binding	IPI	molecular function
GO:0035651	AP-3 adaptor complex binding	IPI	molecular function
GO:0036461	BLOC-2 complex binding	IPI	molecular function
GO:0005525	GTP binding	NAS	molecular function
GO:0007005	mitochondrion organization	IMP	biological process
GO:1903232	melanosome assembly	IMP	biological process
GO:0035646	endosome to melanosome transport	IMP	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0042470	melanosome	IDA	cellular component
GO:0035650	AP-1 adaptor complex 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:0044233	mitochondria-associated endoplasmic reticulum membrane	IDA	cellular component
GO:0072657	protein localization to membrane	IMP	biological process
GO:0072657	protein localization to membrane	IMP	biological process
GO:0003924	GTPase activity	IBA	molecular function
GO:0005802	trans-Golgi network	IBA	cellular component
GO:0012505	endomembrane system	IBA	cellular component
GO:0032482	Rab protein signal transduction	IBA	biological process
GO:0006886	intracellular protein transport	IBA	biological process
GO:0032438	melanosome organization	IBA	biological process
GO:0042470	melanosome	IBA	cellular component
GO:0045335	phagocytic vesicle	IDA	cellular component
GO:1903232	melanosome assembly	IDA	biological process
GO:0033162	melanosome membrane	IDA	cellular component
GO:0090383	phagosome acidification	IMP	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005802	trans-Golgi network	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0031982	vesicle	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0033162	melanosome membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:2001247	positive regulation of phosphatidylcholine biosynthetic process	IEA	biological process
GO:0060155	platelet dense granule organization	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0031982	vesicle	IEA	cellular component
GO:0006996	organelle organization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0033162	melanosome membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045335	phagocytic vesicle	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0030670	phagocytic vesicle membrane	IEA	cellular component
GO:0005525	GTP binding	NAS	molecular function
GO:0015031	protein transport	NAS	biological process
GO:0007264	small GTPase mediated signal transduction	NAS	biological process
GO:0003924	GTPase activity	NAS	molecular function

Diseases

Associated diseases	References
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)