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

Summary

Official Symbol: RAB7Aprovided by HGNC
Official Full Name: RAB7A, member RAS oncogene familyprovided by HGNC
Primary source: HGNC:HGNC:9788
See related: Ensembl:ENSG00000075785 MIM:602298; AllianceGenome:HGNC:9788
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; CMT2B; PRO2706
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]
Expression: Ubiquitous expression in brain (RPKM 104.7), fat (RPKM 97.2) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 3q21.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (128726183..128814798)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (131470839..131559516)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (128445026..128533641)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[Silencing SIRT1 reduces 5-fluorouracil resistance of cholangiocarcinoma cells by inhibiting the FOXO1/Rab7 autophagy pathway].
Title: [Silencing SIRT1 reduces 5-fluorouracil resistance of cholangiocarcinoma cells by inhibiting the FOXO1/Rab7 autophagy pathway].
Lipophagy-related gene RAB7A is involved in immune regulation and malignant progression in hepatocellular carcinoma.
Title: Lipophagy-related gene RAB7A is involved in immune regulation and malignant progression in hepatocellular carcinoma.
Membrane Targeting and GTPase Activity of Rab7 Are Required for Its Ubiquitination by RNF167.
Title: Membrane Targeting and GTPase Activity of Rab7 Are Required for Its Ubiquitination by RNF167.
Polarized alpha-synuclein trafficking and transcytosis across brain endothelial cells via Rab7-decorated carriers.
Title: Polarized α-synuclein trafficking and transcytosis across brain endothelial cells via Rab7-decorated carriers.
Nlp promotes autophagy through facilitating the interaction of Rab7 and FYCO1.
Title: Nlp promotes autophagy through facilitating the interaction of Rab7 and FYCO1.
Hypoxic tubular epithelial cells regulate the angiogenesis of HMEC-1 cells via mediation of Rab7/MMP-2 axis.
Title: Hypoxic tubular epithelial cells regulate the angiogenesis of HMEC-1 cells via mediation of Rab7/MMP-2 axis.
Who's in control? Principles of Rab GTPase activation in endolysosomal membrane trafficking and beyond.
Title: Who's in control? Principles of Rab GTPase activation in endolysosomal membrane trafficking and beyond.
TRIM39 deficiency inhibits tumor progression and autophagic flux in colorectal cancer via suppressing the activity of Rab7.
Title: TRIM39 deficiency inhibits tumor progression and autophagic flux in colorectal cancer via suppressing the activity of Rab7.
Single-nucleotide polymorphisms in Orai1 associated with atopic dermatitis inhibit protein turnover, decrease calcium entry and disrupt calcium-dependent gene expression.
Title: Single-nucleotide polymorphisms in Orai1 associated with atopic dermatitis inhibit protein turnover, decrease calcium entry and disrupt calcium-dependent gene expression.
Post-translational modifications: How to modulate Rab7 functions.
Title: Post-translational modifications: How to modulate Rab7 functions.

Submit: New GeneRIF Correction See all GeneRIFs (114)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Charcot-Marie-Tooth disease type 2B MedGen: C1833219 OMIM: 600882 GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 interacts with RAB7A; predicted interaction to be relevant to vesicular transport/membrane trafficking	PubMed
	env	Depletion of Rab7A leads to the accumulation of HIV-1 gp160 in cells, which results in reduced production of HIV-1 particles and infectivity	PubMed
Nef	nef	Genome-wide shRNA screening identifies RAB7, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells	PubMed
	nef	Nef-triggered MHCII endocytosis requires Rab5 activity and lyst function, whereas lysosomal trafficking of internalized MHCII molecules requires Rab7 activity	PubMed
Pr55(Gag)	gag	Inhibition of endocytosis by siRNA-mediated depletion of EPS15, STX7, RAB7, and VAMP7 restores Gag/p24 expression in the presence of APOL1	PubMed
	gag	HIV-1 Gag co-localizes with Rab7-, Rab9-, and LAMP1-containing membranes at cytoplasmic and juxtanuclear sites in Staufen1-depleted cells	PubMed
	gag	HIV-1 Gag mainly remains in endosomes and co-localizes with endosomal protein Rab7 in the cycloheximide-treated cells	PubMed
Vif	vif	Depletion of RAB7A by siRNA results in partial recovery of HIV-1 Vif in the presence of APOL1, suggesting that Vif is partly degraded by a RAB7-dependent pathway	PubMed
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of ras-related protein Rab-7a (Rab-7A) expression by HIV-1 Vpr in Vpr transduced macrophages	PubMed
capsid	gag	Inhibition of endocytosis by siRNA-mediated depletion of EPS15, STX7, RAB7, and VAMP7 restores Gag/p24 expression in the presence of APOL1	PubMed
reverse transcriptase	gag-pol	The highest RT activity is found in Rab11a compartments and Rab7a compartments in nontreated cells after 7 and 14 days of HIV-1 challenge, respectively, suggesting that the virus is mainly located in these endosomal compartments	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

SHGC-77328 (e-PCR)
- UniSTS:15161

D3S3116 (e-PCR)
- UniSTS:21325

D3S2861E (e-PCR)
- UniSTS:150871

RAB7A (e-PCR)
- UniSTS:513634

STS-H69522 (e-PCR)
- UniSTS:26223

RH47167 (e-PCR)
- UniSTS:3203

RAB7_1563 (e-PCR)
- UniSTS:277649

D3S3901 (e-PCR)
- UniSTS:29678

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein activity	IEA Inferred from Electronic Annotation more info
enables GDP binding	IDA Inferred from Direct Assay more info	PubMed
enables GTP binding	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables retromer complex binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables small GTPase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in autophagosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bone resorption	IEA Inferred from Electronic Annotation more info
involved_in early endosome to late endosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endocytosis	TAS Traceable Author Statement more info	PubMed
involved_in endosome to lysosome transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in endosome to lysosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endosome to plasma membrane protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epidermal growth factor catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of vesicle localization	IEA Inferred from Electronic Annotation more info
involved_in intracellular transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid catabolic process	IEA Inferred from Electronic Annotation more info
involved_in lipophagy	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of exosomal secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of intralumenal vesicle formation	TAS Traceable Author Statement more info	PubMed
involved_in phagosome acidification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phagosome maturation	TAS Traceable Author Statement more info	PubMed
involved_in phagosome-lysosome fusion	IBA Inferred from Biological aspect of Ancestor more info
involved_in phagosome-lysosome fusion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of exosomal secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of viral process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein targeting to lysosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein to membrane docking	IDA Inferred from Direct Assay more info	PubMed
involved_in protein transport	TAS Traceable Author Statement more info	PubMed
involved_in response to bacterium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retrograde transport, endosome to Golgi	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in viral release from host cell	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in alveolar lamellar body	IEA Inferred from Electronic Annotation more info
located_in autophagosome membrane	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endosome membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
is_active_in late endosome	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with late endosome	IDA Inferred from Direct Assay more info	PubMed
located_in late endosome	IDA Inferred from Direct Assay more info	PubMed
located_in late endosome membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in lipid droplet	ISS Inferred from Sequence or Structural Similarity more info
located_in lysosomal membrane	TAS Traceable Author Statement more info
is_active_in lysosome	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in melanosome membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
is_active_in phagocytic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in phagocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in phagocytic vesicle membrane	TAS Traceable Author Statement more info
located_in phagophore assembly site membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of retromer complex	IDA Inferred from Direct Assay more info	PubMed
located_in secretory granule membrane	TAS Traceable Author Statement more info
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: ras-related protein Rab-7a

Names: RAB7, member RAS oncogene family; Ras-associated protein RAB7

NP_004628.4

EC 3.6.5.2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.