RAB7A

RAB7A, member RAS oncogene family

PDB rendering based on 1t91.
Identifiers
Symbols RAB7A; FLJ20819; PRO2706; RAB7
External IDs OMIM: 602298 MGI: 105068 HomoloGene: 3408 GeneCards: RAB7A Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 7879 19349
Ensembl ENSG00000075785 ENSMUSG00000079477
UniProt P51149 n/a
RefSeq (mRNA) NM_004637.5 NM_009005.2
RefSeq (protein) NP_004628.4 NP_033031.2
Location (UCSC) Chr 3:
128.44 – 128.53 Mb		 Chr 6:
87.95 – 88 Mb
PubMed search [1] [2]

Ras-related protein Rab-7a is a protein that in humans is encoded by the RAB7A gene.[1][2]

Members of the RAB family of RAS-related GTP-binding proteins are important regulators of vesicular transport and are located in specific intracellular compartments. RAB7 has been localized to late endosomes and shown to be important in the late endocytic pathway. In addition, it has been shown to have a fundamental role in the cellular vacuolation induced by the cytotoxin VacA of Helicobacter pylori.[supplied by OMIM][3]

Various mutations of RAB7A are associated with Hereditary sensory neuropathy type 1C (HSN IC), also known as Charcot-Marie-Tooth syndrome type 2B (CMT2B).[4]

Interactions

RAB7A has been shown to interact with RILP[5][6] and CHM.[7][8]

References

  1. ^ Davies JP, Cotter PD, Ioannou YA (May 1997). "Cloning and mapping of human Rab7 and Rab9 cDNA sequences and identification of a Rab9 pseudogene". Genomics 41 (1): 131–4. doi:10.1006/geno.1997.4644. PMID 9126495. 
  2. ^ Kashuba VI, Gizatullin RZ, Protopopov AI, Allikmets R, Korolev S, Li J, Boldog F, Tory K, Zabarovska V, Marcsek Z, Sumegi J, Klein G, Zabarovsky ER, Kisselev L (Jan 1998). "NotI linking/jumping clones of human chromosome 3: mapping of the TFRC, RAB7 and HAUSP genes to regions rearranged in leukemia and deleted in solid tumors". FEBS Lett 419 (2-3): 181–5. doi:10.1016/S0014-5793(97)01449-X. PMID 9428630. 
  3. ^ "Entrez Gene: RAB7A RAB7A, member RAS oncogene family". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7879. 
  4. ^ Michaela Auer-Grumbach (March 2008). "Hereditary sensory neuropathy type I". Orphanet Journal of Rare Diseases 3 (7): 7. doi:10.1186/1750-1172-3-7. PMC 2311280. PMID 18348718. http://www.ojrd.com/content/3/1/7. Retrieved 2008-11-05. 
  5. ^ Cantalupo, G; Alifano P, Roberti V, Bruni C B, Bucci C (Feb. 2001). "Rab-interacting lysosomal protein (RILP): the Rab7 effector required for transport to lysosomes". EMBO J. (England) 20 (4): 683–93. doi:10.1093/emboj/20.4.683. ISSN 0261-4189. PMC 145419. PMID 11179213. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=145419. 
  6. ^ Caplan, S; Hartnell L M, Aguilar R C, Naslavsky N, Bonifacino J S (Jul. 2001). "Human Vam6p promotes lysosome clustering and fusion in vivo". J. Cell Biol. (United States) 154 (1): 109–22. doi:10.1083/jcb.200102142. ISSN 0021-9525. PMC 2196876. PMID 11448994. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2196876. 
  7. ^ Rak, Alexey; Pylypenko Olena, Niculae Anca, Goody Roger S, Alexandrov Kirill (Jan. 2003). "Crystallization and preliminary X-ray diffraction analysis of monoprenylated Rab7 GTPase in complex with Rab escort protein 1". J. Struct. Biol. (United States) 141 (1): 93–5. doi:10.1016/S1047-8477(02)00634-2. ISSN 1047-8477. PMID 12576024. 
  8. ^ Alexandrov, K; Simon I, Iakovenko A, Holz B, Goody R S, Scheidig A J (Apr. 1998). "Moderate discrimination of REP-1 between Rab7 x GDP and Rab7 x GTP arises from a difference of an order of magnitude in dissociation rates". FEBS Lett. (NETHERLANDS) 425 (3): 460–4. doi:10.1016/S0014-5793(98)00290-7. ISSN 0014-5793. PMID 9563513. 

External links