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Aliases & Descriptions for RAB7A
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| FLJ20819 2 | | PRO2706 2 | | RAB7 2, 3 |
| | | Descriptions |
|---|
| RAB7, member RAS oncogene family 1, 2 | | RAB7A, member RAS oncogene family 2 | | Ras-associated protein RAB7 2 |
|
| | Search outside databases for aliases for RAB7A gene |
Summaries for RAB7A(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for RAB7A: 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] UniProtKB/Swiss-Prot: RAB7A_HUMAN, P51149Function: Involved in late endocytic transport. Contributes to the maturation of phagosomes (acidification)Gene Wiki entry for RAB7A |
Genomic Location for RAB7A
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3q21.3 Ensembl cytogenetic band: 3q21.3 HGNC cytogenetic band: 3q21RAB7A Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03P129928:
(about GC identifiers)
Start:
|
129,927,669 bp from pter |
End:
|
130,016,331 bp from pter |
Size:
|
88,663 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000003.10 NT_005612.15
| Proteins for RAB7A
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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: Interacts with RILP
Subcellular location: Late endosome. Lysosome. Cytoplasmic vesicle, phagosome. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV
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;
PDB structure from and Proteopedia :1T91 (3D)
 1YHN (3D)
 
Secondary accessions: A8K3V6 Q9NWJ0 Q9UPB0Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_004628.4
ENSEMBL proteins: ENSP00000265062
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: RAB7A 
5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6
): About this table
Antibodies for RAB7A: Assays for RAB7A: | Protein
Domains/ Families for RAB7A(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P51149
ProtoNet protein and cluster: P51149 1 Blocks protein family: IPB001806 Transforming protein P21 RAS signature
UniProtKB/Swiss-Prot: RAB7A_HUMAN, P51149Similarity: Belongs to the small GTPase superfamily. Rab family | Gene Function for RAB7A
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004637
Applied Biosystems Silencer® siRNAs for RAB7A
Sigma-Aldrich siRNA for RAB7A  Sigma-Aldrich shRNA for RAB7A  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_004637                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_004637                                  untagged cDNA clone in CMV expression vector: NM_004637 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_004637
UniProtKB/Swiss-Prot: RAB7A_HUMAN, P51149Function: Involved in late endocytic transport. Contributes to the maturation of phagosomes (acidification)4 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for RAB7A
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
2 Sigma-Aldrich "Your Favorite Gene" Pathways for RAB7A (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for RAB7A 
5/6 Interacting proteins for RAB7A (P511491, 2) via UniProtKB, MINT, and/or STRING (see all 6
)About this table
3 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for RAB7A(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for RAB7A 10/11 Novoseek chemical compound relationships for RAB7A gene (see all 11
)
About this table
|
Transcripts for RAB7A(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004637
Sigma-Aldrich siRNA for RAB7A  Sigma-Aldrich shRNA for RAB7A  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_004637 REFSEQ mRNAs for RAB7A gene: NM_004637.5
Applied Biosystems TaqMan ® Gene Expression Assays: NM_004637               OriGene GFP tagged cDNA clone in CMV expression vector: NM_004637                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_004637                                  untagged cDNA clone in CMV expression vector: NM_004637  Additional cDNA sequence: AF498942.1 AK024417.1 AK026136.1 AK094449.1 AK225177.1 AK225691.1 AK290721.1 AK298344.1 AK308934.1 AL162009.1 BC008721.2 BC013728.1 BX537775.1 U44104.1 24/42 DOTS entries (see all 42
): DT.95217730 DT.100033891 DT.450445 DT.100047749 DT.100660146 DT.100812865 DT.100660135 DT.95283342 DT.120865480 DT.100720266 DT.120865448 DT.120865455 DT.97867830 DT.100059636 DT.120865494 DT.65286440 DT.92467567 DT.95283341 DT.100059638 DT.100660134 DT.100660144 DT.100720250 DT.120865433 DT.120865497 24/1200 AceView cDNA sequences (see all 1200
):H56353 AA481485 BU859221 BQ898209 CA448906 BM667525 BQ214089 N24271 AA476599 AU123329 BQ651612 AA548548 AA831272 BQ642364 BE794040 BQ668352 NM_004637 BQ898485 AA161468 AA805527 BM989722 AA488129 R70099 BC008721
highest scoring ESTs for RAB7A:AA081101 AA088213 AA121263 AA121474 AA157917 AA158844 AA160980 AA160981 AA161468 AA290687 Unigene Cluster for RAB7A: RAB7A, member RAS oncogene family Hs.716392 [show with all ESTs]Unigene Representative Sequence: NM_004637
GeneLoc Exon Structure
1 Ensembl transcript including schematic representation: ENST00000265062
|
Expression for RAB7A
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| RAB7A expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for RAB7A
1 / 2 / 3 6 probe-sets matching RAB7A gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TTAATATATG
SOURCE GeneReport for Unigene cluster: Hs.716392 UniProtKB/Swiss-Prot: RAB7A_HUMAN, P51149Tissue specificity: Widely expressed; high expression found in skeletal muscle |
Orthologs for RAB7A
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for RAB7A gene from 5/27 species (see all 27
)
About this table Species with no ortholog for RAB7A
ENSEMBL Gene Tree for RAB7A | Paralogs for RAB7A(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for RAB7A gene
- RAB232 RAB9A2 RAB9B2
|
SNPs/Variants for RAB7A(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for RAB7A (up to first 250kb)
|
Disorders & Mutations for RAB7A
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 602298
UniProtKB/Swiss-Prot: RAB7A_HUMAN, P51149
Defects in RAB7A are the cause of Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]; also known as hereditary motor and sensory neuropathy II (HMSN2). CMT2B is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2B is clinically characterized by marked distal muscle weakness and a high frequency of foot ulcers, infections and amputations of the toes. CMT2B inheritance is autosomal dominant1 Novoseek disease relationship for RAB7A gene
About this table
GeneTests: RAB7A Charcot-Marie-Tooth Neuropathy Type 2 Human Gene Mutation Database: RAB7A
|
Medical News for RAB7A(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for RAB7A (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/104 PubMed articles for RAB7A gene (see all 104
):- Cloning and mapping of human Rab7 and Rab9 cDNA sequences and identification of a Rab9 pseudogene. (PubMed id 9126495)1, 2, 3, 4 Davies J.P.... Ioannou Y.A. (1997)
- Rab-interacting lysosomal protein (RILP): the Rab7 effector required for transport to lysosomes. (PubMed id 11179213)1, 3, 4 Cantalupo G.... Bucci C. (2001)
- A novel RAB7 mutation associated with ulcero-mutilating neuropathy. (PubMed id 15455439)1, 3, 4 Houlden H....Ginsberg L. (2004)
- Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. (PubMed id 12545426)1, 3, 4 Verhoeven K.... Timmerman V. (2003)
- Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)3, 4 Chi A....Hunt D.F. (2006)
- Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)3, 4 Rush J.... Comb M.J. (2005)
- Structural basis for recruitment of RILP by small GTPase Rab7. (PubMed id 15933719)3, 4 Wu M.... Song H. (2005)
- A unique region of RILP distinguishes it from its related proteins in its regulation of lysosomal morphology and interaction with Rab7 and Rab34. (PubMed id 14668488)3, 4 Wang T.... Hong W. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)3, 4 Ota T....Sugano S. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
|
Search for RAB7A
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing RAB7A
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing RAB7A
(According to HUGE)
About This Section
| -- |
Specialized Databases showing RAB7A(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| Inherited peripheral neuropathies mutation db | http://www.molgen.ua.ac.be/CMTMutations/ | | GeneReviews | http://www.genetests.org/query?gene=RAB7A |
|
| | | About This Section
| --
| Services for RAB7A(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for RAB7A:

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| Antibodies & Assays for RAB7A  (Rab7) |
| | Recombinant Proteins (RAB7) | | Antibodies (RAB7) |
| | | Search Tocris compounds for RAB7A |
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