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FLASH GENE

Symbol

RAB7A

contributors: mct - updated : 16-06-2018

HGNC name	RAB7, member RAS oncogene family
HGNC id	9788

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004637 6 - 2240 NP_004628 23.4 207 - 2009 PMID: 193926

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Hearing/Equilibrium ear       highly Lymphoid/Immune spleen       highly   tonsils       highly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol digestive liver vessels     Epithelial barrier/lining epidermis stratum basale   Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Digestive hepatocyte Lymphoid/Immune macrophage Skin/Tegument melanocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

N-terminal AAs of the RAB7A hypervariable C-terminal domain (HVD) are important for late endosomal/lysosomal localization, apparently due to their involvement in interaction with the RAB7A effector RAB-interacting lysosomal protein

HOMOLOGY

interspecies

homolog to murine Rab7

Homologene

FAMILY	small GTPase superfamily
	Rab family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome
	intracellular,cytoplasm,cytosolic
text	localizes primarily to acidic, pre-degradative and degradative organelles such as late endosomes, lysosomes, multivesicular bodies, phagosomes, autophagosomes and autophagolysosomes
	STX7 colocalizes with RAB7A on late endosomes
	an active, GTP-bound state that is membrane-bound and an inactive, GDP-bound state that is cytosolic

basic FUNCTION	GTPase, likely involved in vesicular transport of proteins from early to late endosomes and lysosomes
	may be involved in the process of atherogenesis
	implicated in the regulation of endocytic pathways
	RAB7A and RILP are key proteins for the biogenesis of lysosomes and phagolysosomes
	late endosome-/lysosome-associated small GTPase, playing critical roles in the endocytic processes
	also plays important roles in microbial pathogen infection and survival, as well as in participating in the life cycle of viruses
	plays a vital role in the regulation of the trafficking, maturation and fusion of endocytic and autophagic vesicles
	specifically regulates transport, docking and fusion of late endosomes, autophagosomes and lysosomes and plays an important role in determining the fate of endocytic vesicles by regulating their fusion and subsequent degradation by lysosomes
	novel role for SFTPA1 in modulating endolysosomal trafficking via RAB7A in primary alveolar macrophages (AM)
	integral component of the signaling and trafficking scaffolds that assemble on the endosomal membrane and has been studied in the context of EGFR trafficking and down-regulation
	RAB7A and TSG101 are required for the constitutive recycling of unliganded EGFRs via distinct mechanisms
	RAB7A, modulates the ER morphology by controlling the ER homeostasis and ER stress
	functions of RAB18 and RAB7A in lysosomal and autophagic activities may constitute an overlapping mechanism underlying WARBM and CMT pathogenesis in the nervous system

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	vesicular transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	GTP

protein	interacting with OSBPL1A
	regulates maturation of melanosomal matrix protein SILV
	FYCO1 binds to both MAP1LC3A, PtdIns(3)P and RAB7A, and contains a domain responsible for microtubule plus end-dependent transport
	simultaneously binds RILP and ORP1L to form a RILP-RAB7A-ORP1L complex
	interacting with UVRAG, and RUBICON (GTP-bound RAB7A competes with UVRAG for RUBICON binding)
	PLEKHF1 is involved in lysosomal sorting and induction of autophagosome formation via RAB7A signaling
	ability of ATP6AP1 to guide lysosomal intracellular trafficking to the ruffled border, potentially through its interaction with the small GTPase RAB7A
	PRPH is an intermediate filament protein expressed primarily in peripheral neurons, as a putative RAB7A interacting protein
	TBC1D15 and TBC1D17 mediate proper autophagic encapsulation of mitochondria by regulating RAB7A activity at the interface between mitochondria and isolation membranes
	EPG5 is a RAB7A effector that determines the fusion specificity of autophagosomes with late endosomes/lysosomes
	NUMB and NUMBL interacted with small GTPase RAB7A to transition ERBB2 from early to late endosome for degradation
	PLEKHM1 simultaneously binds RAB7A and ARL8B, bringing about clustering and fusion of late endosomes and lysosomes
	inhibition of the GTPase activating protein TBC1D5 can enhance RAB7A activation and lead to a gain of function for retromer
	NDFIP1 mediates the ubiquitination of NTRK2, resulting in receptor trafficking predominantly on RAB7A containing late endosomes, highlighting a pathway for NTRK2 degradation at the lysosome
	AAMDC can interact with the RabGTPase-activating protein RABGAP1L, and AAMDC, RABGAP1L, and RAB7A colocalize in endolysosomes
	WDR91 competes with the VPS41 subunit of the HOPS complex, another RAB7A effector, for binding to RAB7A, thereby facilitating RAB7A-dependent lysosome fusion in a controlled manner

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMT2B

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS