RAB7A RAB7A, member RAS oncogene family [Homo sapiens] - Gene

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Summary

Official Symbol: RAB7Aprovided by HGNC
Official Full Name: RAB7A, member RAS oncogene familyprovided by HGNC
Primary source: HGNC:9788
See related: Ensembl:ENSG00000075785; HPRD:03805; MIM:602298; Vega:OTTHUMG00000159812
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RAB7; PRO2706; FLJ20819
Summary: 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 vesicle traffic in the late endosomes and also from late endosomes to lysosomes. This encoded protein is also involved in the cellular vacuolation of the VacA cytotoxin of Helicobacter pylori. Mutations at highly conserved amino acid residues in this gene have caused some forms of Charcot-Marie-Tooth (CMT) type 2 neuropathies. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 3q21.3

Sequence :: Chromosome: 3; NC_000003.11 (128444979..128533641)

See RAB7A in Epigenomics, MapViewer

Chromosome 3 - NC_000003.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

results suggest that Rab7A contributes to the mechanism by which Vpu counteracts the restriction factor BST2/Tetherin and rescues HIV-1 release; results highlight new roles for a major regulator of the late endocytic pathway, Rab7A, in the late stages ...
Title: Rab7A is required for efficient production of infectious HIV-1.
the tail-domain of phafin1 provides lysosomal targeting signature and the ability to induce autophagy that is mediated by Rab7 signaling.
Title: Lysosomal targeting of phafin1 mediated by Rab7 induces autophagosome formation.
Results suggest that Rab7 may play a role in secretory lysosome movement toward the centrosome by interacting with RILP to recruit the minus-end motor, dynein.
Title: A role for Rab7 in the movement of secretory granules in cytotoxic T lymphocytes.
Results indicate selective upregulation of Both rab5 and rab7 levels within basal forebrain, frontal cortex, and hippocampus in mild cognitive impairment and Alzheimer's disease.
Title: Regional selectivity of rab5 and rab7 protein upregulation in mild cognitive impairment and Alzheimer's disease.
Rubicon serves as a previously unknown Rab7 effector to ensure the proper progression of the endocytic pathway.
Title: Rubicon controls endosome maturation as a Rab7 effector.
Rab5 and Rab7, were associated with the pathway of autophagosome formation and the fate of intracellular group A streptococcus.
Title: Specific behavior of intracellular Streptococcus pyogenes that has undergone autophagic degradation is associated with bacterial streptolysin O and host small G proteins Rab5 and Rab7.
although only TBC1D15/Rab7-GAP altered Rab7-GTP levels, both Rab7-GAP and mVps39 regulate lysosomal morphology and play a role in maintaining growth factor dependence
Title: Differential effects of TBC1D15 and mammalian Vps39 on Rab7 activation state, lysosomal morphology, and growth factor dependence.
Disease mutations uncouple Rab7 from the spatial and temporal control normally imposed by regulatory proteins and cause disease not by a gain of novel toxic function, but by misregulation of native Rab7 activity.
Title: Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation.
mechanisms of GAS-containing autophagosome-like vacuoles formation includes not only the common machinery of autophagy, but also Rab7 as an additional component, which is dispensable in canonical autophagosome formation.
Title: An initial step of GAS-containing autophagosome-like vacuoles formation requires Rab7.
These results suggest that the dissociation of Rab7 from M.tb phagosome is the important process in inhibition of phagolysosome biogenesis.
Title: Dissection of Rab7 localization on Mycobacterium tuberculosis phagosome.

Submit: New GeneRIF Correction See all (36)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Charcot-Marie-Tooth disease, type 2B

MIM: 600882

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Products	Interactant	Other Gene	Source	Pubs	Description
P51149	P24386	CHM	HPRD	PubMed
P51149	P30153	PPP2R1A	HPRD	PubMed
P51149	P30154	PPP2R1B	HPRD	PubMed
P51149	Q9UI14	RABAC1	HPRD	PubMed
P51149	P53611	RABGGTB	HPRD	PubMed
P51149	Q96NA2	RILP	HPRD	PubMed
P51149	Q9Y4L5	RNF115	HPRD	PubMed
P51149	P14672	SLC2A4	HPRD	PubMed
BioGRID:113624	BioGRID:107545	CHM	BioGRID	PubMed	Co-crystal Structure; Reconstituted Complex
BioGRID:113624	BioGRID:115578	EIF1B	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113624	BioGRID:111510	PPP2R1A	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113624	BioGRID:111511	PPP2R1B	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113624	BioGRID:111661	PSMA7	BioGRID	PubMed	Affinity Capture-Western
BioGRID:113624	BioGRID:139936	PSMA7	BioGRID	PubMed	Two-hybrid
BioGRID:113624	BioGRID:122128	RAB17	BioGRID	PubMed	Two-hybrid
BioGRID:113624	BioGRID:121505	RAB22A	BioGRID	PubMed	Two-hybrid
BioGRID:113624	BioGRID:111805	RAB4A	BioGRID	PubMed	Two-hybrid
BioGRID:113624	BioGRID:119816	RAB4B	BioGRID	PubMed	Two-hybrid
BioGRID:113624	BioGRID:111806	RAB5A	BioGRID	PubMed	Two-hybrid
BioGRID:113624	BioGRID:111807	RAB5B	BioGRID	PubMed	Two-hybrid
BioGRID:113624	BioGRID:111808	RAB6A	BioGRID	PubMed	Two-hybrid
BioGRID:113624	BioGRID:111941	RHEB	BioGRID	PubMed	Co-localization
BioGRID:113624	BioGRID:123679	RILP	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:113624	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113624	BioGRID:119509	UCHL5	BioGRID	PubMed	Reconstituted Complex
BioGRID:113624	BioGRID:121752	ZFYVE28	BioGRID	PubMed	Co-localization

Function	Evidence Code	Pubs
GDP binding	IDA Inferred from Direct Assay more info	PubMed
GTP binding	IDA Inferred from Direct Assay more info	PubMed
GTPase activity	IDA Inferred from Direct Assay more info	PubMed
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
GTP catabolic process	IDA Inferred from Direct Assay more info	PubMed
GTP catabolic process	TAS Traceable Author Statement more info	PubMed
early endosome to late endosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
endocytosis	TAS Traceable Author Statement more info	PubMed
endosome to lysosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
epidermal growth factor catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
phagosome maturation	TAS Traceable Author Statement more info	PubMed
protein transport	TAS Traceable Author Statement more info	PubMed
small GTPase mediated signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info	PubMed
late endosome	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with late endosome	IDA Inferred from Direct Assay more info	PubMed
lysosome	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with lysosome	IDA Inferred from Direct Assay more info	PubMed
melanosome	IEA Inferred from Electronic Annotation more info
phagocytic vesicle	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: ras-related protein Rab-7a

Names: ras-related protein Rab-7a; Ras-associated protein RAB7; RAB7, member RAS oncogene family

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008070.1 RefSeqGene

Range

5001..93663

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004637.5 → NP_004628.4 ras-related protein Rab-7a

Status: REVIEWED

Source sequence(s)

AF498942, AK094449, AU122058, BC008721, CA748697

Consensus CDS

CCDS3052.1

UniProtKB/Swiss-Prot

P51149

Related

ENSP00000265062, OTTHUMP00000216577, ENST00000265062, OTTHUMT00000357479

Conserved Domains (2) summary

COG1100
Location:5 – 205
Blast Score: 323

COG1100; GTPase SAR1 and related small G proteins [General function prediction only]

cd01862
Location:9 – 179
Blast Score: 958

Rab7; Rab GTPase family 7 (Rab7)

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000003.11 Reference GRCh37.p5 Primary Assembly

Range

128444979..128533641

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000135.1 Alternate HuRef

Range

125832324..125921106

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC023598.30 (42101..64680)	None
genomic	AC079945.21	None
genomic	AC117508.5 (2090..20837)	None
genomic	AC139617.6 (2014..25900)	None
genomic	AF050175.1	AAD02565.1
genomic	CH471052.2	EAW79302.1
		EAW79304.1
genomic	CH471052.2	EAW79302.1
		EAW79304.1
genomic	CQ766813.1	CAF33077.1
mRNA	AF498942.1	AAM21090.1
mRNA	AK000826.1	BAA91390.1
mRNA	AK026136.1	None
mRNA	AK094449.1	None
mRNA	AK225177.1	None
mRNA	AK225691.1	None
mRNA	AK290721.1	BAF83410.1
mRNA	AK298344.1	BAG60591.1
mRNA	AK308934.1	None
mRNA	AL162009.1	None
mRNA	AU122058.1	None
mRNA	BC008721.2	AAH08721.2
mRNA	BC013728.1	AAH13728.2
mRNA	BX537775.1	CAD97836.1
mRNA	CA748697.1	None
mRNA	U44104.1	AAA86640.1