• Gene id: 7879

Gene Summary

• Gene Symbol: RAB7A   Gene   UCSC   Ensembl
• Aliases: CMT2B, PRO2706, RAB7
• Gene name: RAB7A, member RAS oncogene family
• Alternate names: ras-related protein Rab-7a, RAB7, member RAS oncogene family, Ras-associated protein RAB7,
• Gene location: 3q21.3 (128726182: 128814797)     Exons: 10     NC_000003.12
• Gene summary(Entrez): RAB family members are small, RAS-related GTP-binding proteins that are important regulators of vesicular transport. Each RAB protein targets multiple proteins that act in exocytic / endocytic pathways. This gene encodes a RAB family member that regulates
• OMIM: 602298

Protein Summary

• Protein general information: P51149  
  • Name: Ras related protein Rab 7a
  • Length: 207  
  • Mass: 23490
  • Tissue specificity: Widely expressed; high expression found in skeletal muscle. {ECO
• Sequence:

  MTSRKKVLLKVIILGDSGVGKTSLMNQYVNKKFSNQYKATIGADFLTKEVMVDDRLVTMQIWDTAGQERFQSLGV
  AFYRGADCCVLVFDVTAPNTFKTLDSWRDEFLIQASPRDPENFPFVVLGNKIDLENRQVATKRAQAWCYSKNNIP
  YFETSAKEAINVEQAFQTIARNALKQETEVELYNEFPEPIKLDKNDRAKASAESCSC

• Structural information:
  • Interpro: IPR027417  IPR005225  IPR001806  
  • Prosite: PS51419
  • PDB: 1T91 1YHN 3LAW 6IYB
  • PDBsum: 1T91 1YHN 3LAW 6IYB
  • DIP: 39879
  • STRING: ENSP00000265062
• Other Databases: GeneCards:  RAB7A  Malacards:  RAB7A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1903542	negative regulation of exosomal secretion	IMP	biological process
GO:1902586	multi-organism intercellular transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1905366	negative regulation of intralumenal vesicle formation	TAS	biological process
GO:1905394	retromer complex binding	IMP	molecular function
GO:0010008	endosome membrane	IMP	cellular component
GO:0019076	viral release from host cell	IMP	biological process
GO:0045732	positive regulation of protein catabolic process	IMP	biological process
GO:0048524	positive regulation of viral process	IMP	biological process
GO:0003924	GTPase activity	IBA	molecular function
GO:0005764	lysosome	IBA	cellular component
GO:0008333	endosome to lysosome transport	IBA	biological process
GO:0012505	endomembrane system	IBA	cellular component
GO:0032482	Rab protein signal transduction	IBA	biological process
GO:0005770	late endosome	IBA	cellular component
GO:0006886	intracellular protein transport	IBA	biological process
GO:0045335	phagocytic vesicle	IBA	cellular component
GO:0090385	phagosome-lysosome fusion	IBA	biological process
GO:0022615	protein to membrane docking	IDA	biological process
GO:0030904	retromer complex	IDA	colocalizes with
GO:0030904	retromer complex	IDA	colocalizes with
GO:0045335	phagocytic vesicle	IDA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0010008	endosome membrane	IDA	cellular component
GO:0090382	phagosome maturation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042147	retrograde transport, endosome to Golgi	IMP	biological process
GO:0090385	phagosome-lysosome fusion	IMP	biological process
GO:0090383	phagosome acidification	IMP	biological process
GO:0045022	early endosome to late endosome transport	IMP	biological process
GO:0015031	protein transport	TAS	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:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005811	lipid droplet	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0006914	autophagy	IEA	biological process
GO:0016042	lipid catabolic process	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0003924	GTPase activity	TAS	molecular function
GO:0005770	late endosome	TAS	cellular component
GO:0006897	endocytosis	TAS	biological process
GO:0005764	lysosome	IDA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0030667	secretory granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
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:0061724	lipophagy	IEA	biological process
GO:0051650	establishment of vesicle localization	IEA	biological process
GO:0031902	late endosome membrane	IEA	cellular component
GO:0005811	lipid droplet	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0034045	phagophore assembly site membrane	IEA	cellular component
GO:0032419	extrinsic component of lysosome membrane	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003924	GTPase activity	IDA	molecular function
GO:0005525	GTP binding	IDA	molecular function
GO:0019003	GDP binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005764	lysosome	IDA	colocalizes with
GO:0007174	epidermal growth factor catabolic process	IMP	biological process
GO:0008333	endosome to lysosome transport	IMP	biological process
GO:0005770	late endosome	IDA	colocalizes with
GO:0006622	protein targeting to lysosome	IMP	biological process
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:0005811	lipid droplet	IEA	cellular component
GO:0030670	phagocytic vesicle membrane	IEA	cellular component
GO:0000421	autophagosome membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0033162	melanosome membrane	IEA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0061724	lipophagy	ISS	biological process
GO:0005811	lipid droplet	ISS	cellular component
GO:0032419	extrinsic component of lysosome membrane	ISS	cellular component
GO:0031902	late endosome membrane	ISS	cellular component
GO:0000045	autophagosome assembly	IMP	biological process
GO:0005770	late endosome	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:1903543	positive regulation of exosomal secretion	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis
hsa05132	Salmonella infection
hsa04140	Autophagy - animal
hsa05152	Tuberculosis
hsa04145	Phagosome
hsa05146	Amoebiasis
hsa04137	Mitophagy - animal

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Hereditary sensory and autonomic neuropathy	KEGG:H00265
Charcot-Marie-Tooth disease	KEGG:H00264
Hereditary sensory and autonomic neuropathy	KEGG:H00265
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)