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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RAB7A Gene

protein-coding GIFtS: 68
GCID: GC03P128444

RAB7A, Member RAS Oncogene Family

(Previous names: RAB7, member RAS oncogene family)
(Previous symbol: RAB7)

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
RAB7A, Member RAS Oncogene Family¹ ²		Ras-Associated Protein RAB7²
RAB7¹ ² ³ ⁵		Ras-Related Protein Rab-7a²
RAB7, Member RAS Oncogene Family¹ ²		CMT2B⁵
PRO2706²		PSN⁵

External Ids:	HGNC: 9788¹	Entrez Gene: 7879²	Ensembl: ENSG00000075785⁷	OMIM: 602298⁵	UniProtKB: P51149³

Export aliases for RAB7A gene to outside databases

Previous GC identifers: GC03P129928 GC03P125832

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RAB7A Gene:

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)

GeneCards Summary for RAB7A Gene:

RAB7A (RAB7A, member RAS oncogene family) is a protein-coding gene. Diseases associated with RAB7A include charcot-marie-tooth disease type 2b, and charcot-marie-tooth neuropathy type 2b, and among its related super-pathways are Clathrin-dependent protein traffic and Delta508-CFTR traffic / Sorting endosome formation in CF. GO annotations related to this gene include GDP binding and GTP binding. An important paralog of this gene is RABL2B.

UniProtKB/Swiss-Prot: RAB7A_HUMAN, P51149

Function: Key regulator in endo-lysosomal trafficking. Governs early-to-late endosomal maturation, microtubule

minus-end as well as plus-end directed endosomal migration and positioning, and endosome-lysosome transport

through different protein-protein interaction cascades. Plays a central role, not only in endosomal traffic, but

also in many other cellular and physiological events, such as growth-factor-mediated cell signaling,

nutrient-transportor mediated nutrient uptake, neurotrophin transport in the axons of neurons and lipid

metabolism. Also involved in regulation of some specialized endosomal membrane trafficking, such as maturation of

melanosomes, pathogen-induced phagosomes (or vacuoles) and autophagosomes. Plays a role in the maturation and

acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in the

fusion of phagosomes with lysosomes. Plays important roles in microbial pathogen infection and survival, as well

as in participating in the life cycle of viruses. Microbial pathogens possess survival strategies governed by

RAB7A, sometimes by employing RAB7A function (e.g. Salmonella) and sometimes by excluding RAB7A function (e.g.

Mycobacterium). In concert with RAC1, plays a role in regulating the formation of RBs (ruffled borders) in

osteoclasts. Controls the endosomal trafficking and neurite outgrowth signaling of NTRK1/TRKA. Regulates the

endocytic trafficking of the EGF-EGFR complex by regulating its lysosomal degradation

Gene Wiki entry for RAB7A Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NT_005612.16 NC_018914.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RAB7A gene promoter:
Max C/EBPbeta SREBP-1a Nkx6-1 SREBP-1c Arnt SREBP-1b
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): RAB7A promoter sequence

Search SABiosciences Chromatin IP Primers for RAB7A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAB7A

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q21.3 Ensembl cytogenetic band: 3q21.3 HGNC cytogenetic band: 3q21

RAB7A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAB7A gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03P128444: view genomic region (about GC identifiers)

Start:	128,444,965 bp from pter	End:	128,533,641 bp from pter
Size:	88,677 bases	Orientation:	plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RAB7A_HUMAN, P51149 (See protein sequence)

Recommended Name: Ras-related protein Rab-7a

Size: 207 amino acids; 23490 Da

Subunit: The GTP-bound form interacts with RAC1 (By similarity). Interacts with NTRK1/TRKA (By similarity).

Interacts with RILP, PSMA7, RNF115 and FYCO1. Interacts with the PIK3C3/VPS34-PIK3R4 complex. The GTP-bound form

interacts with OSBPL1A. Interacts with CLN3

Subcellular location: Late endosome. Lysosome (By similarity). Cytoplasmic vesicle, phagosome (By similarity).

Melanosome (By similarity). Cytoplasmic vesicle, phagosome membrane; Lipid-anchor; Cytoplasmic side.

Note=Co-localizes with OSBPL1A at the late endosome. Found in the ruffled border (a late endosomal-like

compartment in the plasma membrane) of bone-resorbing osteoclasts. Recruited to phagosomes containing S.aureus or

Mycobacterium (By similarity)

Sequence caution: Sequence=BAA91390.1; Type=Erroneous translation; Note=Wrong choice of frame;

Sequence=BAF83410.1; Type=Erroneous translation; Note=Wrong choice of frame; Sequence=EAW79303.1; Type=Erroneous

gene model prediction;

3 PDB 3D structures from and Proteopedia for RAB7A:

1T91 (3D)

1YHN (3D)

3LAW (3D)

Secondary accessions: A8K3V6 Q9NWJ0 Q9UPB0

Explore the universe of human proteins at neXtProt for RAB7A: NX_P51149

Explore proteomics data for RAB7A at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_P51149

RAB7A Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_004628.4

ENSEMBL proteins:

ENSP00000265062 ENSP00000417668 ENSP00000417978 ENSP00000418955 ENSP00000417189

ENSP00000417155 ENSP00000418283

Reactome Protein details: P51149
Human Recombinant Protein Products for RAB7A:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein for RAB7A OriGene Protein Over-expression Lysate for RAB7A OriGene MassSpec for RAB7A OriGene Custom Protein Services for RAB7A
	GenScript Custom Purified and Recombinant Proteins Services for RAB7A
	Novus Biologicals RAB7A Proteins Novus Biologicals RAB7A Lysates
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	ProSpec Recombinant Protein for RAB7A
	Cloud-Clone Corp. Proteins for RAB7A

Gene Ontology (GO): 5/14 cellular component terms (GO ID links to tree view) (see all 14): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005634	nucleus	--	--
GO:0005737	cytoplasm	--	--
GO:0005764	colocalizes with lysosome	IDA	18272684
GO:0005765	lysosomal membrane	TAS	--

RAB7A for ontologies About GeneDecksing

RAB7A Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	R&D Systems Antibodies for RAB7A
	Cell Signaling Technology (CST) Antibodies for RAB7A (Rab7)
	OriGene Antibodies for RAB7A OriGene Custom Antibody Services for RAB7A
	GenScript Custom Superior Antibodies Services for RAB7A
	Novus Biologicals RAB7A Antibodies
	Abcam antibodies for RAB7A
	Cloud-Clone Corp. Antibodies for RAB7A
	ThermoFisher Antibodies for RAB7A
	LSBio Antibodies in human, mouse, rat for RAB7A

Assay Products for RAB7A:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for RAB7A
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for RAB7A
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for RAB7A Cloud-Clone Corp. CLIAs for RAB7A

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

RAB: RAB, member RAS oncogene

4 InterPro protein domains:

IPR005225 Small_GTP-bd_dom

IPR001806 Small_GTPase

IPR003579 Small_GTPase_Rab_type

IPR027417 P-loop_NTPase

Graphical View of Domain Structure for InterPro Entry P51149

ProtoNet protein and cluster: P51149

1 Blocks protein domain: IPB001806 Transforming protein P21 RAS signature

UniProtKB/Swiss-Prot: RAB7A_HUMAN, P51149

Similarity: Belongs to the small GTPase superfamily. Rab family

RAB7A for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: RAB7A_HUMAN, P51149