RAB7A Gene
protein-coding GIFtS: 65
GCID: GC03P128444
|
|
RAB7A, member RAS oncogene family(Previous names: RAB7, member RAS oncogene family )
(Previous symbol: RAB7)
| |
Aliases
for RAB7A gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
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 |
Export aliases for RAB7A gene to outside databasesPrevious GC identifers: GC03P129928 GC03P125832 |
Summaries
for RAB7A gene(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:
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 familymember that regulates vesicle traffic in the late endosomes and also from late endosomes to lysosomes. This encodedprotein is also involved in the cellular vacuolation of the VacA cytotoxin of Helicobacter pylori. Mutations at highlyconserved amino acid residues in this gene have caused some forms of Charcot-Marie-Tooth (CMT) type 2 neuropathies.(provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: RAB7A_HUMAN, P51149Function: Key regulator in endo-lysosomal trafficking. Governs early-to-late endosomal maturation, microtubuleminus-end as well as plus-end directed endosomal migration and positioning, and endosome-lysosome transport throughdifferent protein-protein interaction cascades. Plays a central role, not only in endosomal traffic, but also in manyother cellular and physiological events, such as growth-factor-mediated cell signaling, nutrient-transportor mediatednutrient uptake, neurotrophin transport in the axons of neurons and lipid metabolism. Also involved in regulation ofsome specialized endosomal membrane trafficking, such as maturation of melanosomes, pathogen-induced phagosomes (orvacuoles) 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 inmicrobial pathogen infection and survival, as well as in participating in the life cycle of viruses. Microbialpathogens possess survival strategies governed by RAB7A, sometimes by employing RAB7A function (e.g. Salmonella) andsometimes by excluding RAB7A function (e.g. Mycobacterium). In concert with RAC1, plays a role in regulating theformation of RBs (ruffled borders) in osteoclasts. Controls the endosomal trafficking and neurite outgrowth signalingof NTRK1/TRKA. Regulates the endocytic trafficking of the EGF-EGFR complex by regulating its lysosomal degradation
Gene Wiki entry for RAB7A
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_005612.16
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
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: 3q21RAB7A Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 |
|
Proteins
for RAB7A gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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). Interactswith RILP, PSMA7, RNF115 and FYCO1. Interacts with the PIK3C3/VPS34-PIK3R4 complex. The GTP-bound form interacts withOSBPL1A. 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-localizeswith OSBPL1A at the late endosome. Found in the ruffled border (a late endosomal-like compartment in the plasmamembrane) 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 Q9UPB0Explore the universe of human proteins at neXtProt for RAB7A: NX_P51149
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P51149
RAB7A Protein expression data from MOPED and PaxDb: 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:
Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table
RAB7A for ontologies About GeneDecksing
RAB7A Antibody Products:
Assay Products for RAB7A: |
Protein
Domains /
Families
for RAB7A gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
RAB7A for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P51149ProtoNet 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 |
Function
for RAB7A gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: RAB7A_HUMAN, P51149Function: Key regulator in endo-lysosomal trafficking. Governs early-to-late endosomal maturation, microtubuleminus-end as well as plus-end directed endosomal migration and positioning, and endosome-lysosome transport throughdifferent protein-protein interaction cascades. Plays a central role, not only in endosomal traffic, but also in manyother cellular and physiological events, such as growth-factor-mediated cell signaling, nutrient-transportor mediatednutrient uptake, neurotrophin transport in the axons of neurons and lipid metabolism. Also involved in regulation ofsome specialized endosomal membrane trafficking, such as maturation of melanosomes, pathogen-induced phagosomes (orvacuoles) 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 inmicrobial pathogen infection and survival, as well as in participating in the life cycle of viruses. Microbialpathogens possess survival strategies governed by RAB7A, sometimes by employing RAB7A function (e.g. Salmonella) andsometimes by excluding RAB7A function (e.g. Mycobacterium). In concert with RAC1, plays a role in regulating theformation of RBs (ruffled borders) in osteoclasts. Controls the endosomal trafficking and neurite outgrowth signalingof NTRK1/TRKA. Regulates the endocytic trafficking of the EGF-EGFR complex by regulating its lysosomal degradation
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RAB7A (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RAB7A
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: RAB7A (NM_004637) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RAB7A | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAB7A |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAB7A |
Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table
RAB7A for ontologies About GeneDecksing
4 GenomeRNAi human phenotypes for RAB7A:
Animal Models:
Mouse knock-out Rab7tm1.2Ywd for RAB7A
2 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Rab7):
RAB7A for phenotypes About GeneDecksing
|
Pathways & Interactions
for RAB7A gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/12 super-pathways (see all 12) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Clathrin-dependent protein traffic | | | 2 | Normal wtCFTR traffic / Sorting endosome formation | | | 3 | Immune System | | | 4 | MHC class II antigen presentation | | | 5 | Cytoskeletal Signaling | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for RAB7A
1 
Cell Signaling Technology (CST) Pathway for RAB7A
5/6  GeneGo (Thomson Reuters) Pathways for RAB7A (see all 6)
1  BioSystems Pathway for RAB7A
4 
Reactome Pathways for RAB7A
4 
Kegg Pathways (Kegg details for RAB7A):
RAB7A for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RAB7A
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/140 Interacting proteins for RAB7A (P511492, 3 ENSP000002650624) via UniProtKB, MINT, STRING, and/or I2D (see all 140)About this table
Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14): About this table
RAB7A for ontologies About GeneDecksing
|
Drugs & Compounds
for RAB7A gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
RAB7A for compounds About GeneDecksing
 Browse Tocris compounds for RAB7A
1 DrugBank Compound for RAB7A About this table
10/11 Novoseek chemical compound relationships for RAB7A gene (see all 11) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| phosphatidylinositol 3-phosphate |
68.5 |
2 |
14617358 (1) |
| mannose 6-phosphate |
67.4 |
7 |
10821869 (2), 18485117 (1), 11152512 (1), 11404461 (1) (see all 6) |
| geranylgeranyl pyrophosphate |
55.1 |
7 |
11141079 (5) |
| gtp |
53.9 |
14 |
9563513 (2), 19386765 (2), 14701929 (1), 18272684 (1) |
| gdp |
44.9 |
3 |
9563513 (2) |
| asparagine |
24.7 |
1 |
15455439 (1) |
| phosphoinositide |
17.2 |
1 |
12803922 (1) |
| lipid |
12.3 |
2 |
12803922 (1), 11889035 (1) |
| phosphatidylinositol |
5.42 |
4 |
14617358 (2), 17651088 (1) |
| cholesterol |
0 |
9 |
11889035 (4), 11032830 (2), 12803922 (1) |
Search CenterWatch for drugs/clinical trials and news about RAB7A
|
Transcripts
for RAB7A gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for RAB7A gene: NM_004637.5 Unigene Cluster for RAB7A: RAB7A, member RAS oncogene family Hs.15738 [show with all ESTs]Unigene Representative Sequence: NM_0046378 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000265062(uc003eks.1 uc010hsv.1) ENST00000482525 ENST00000491681
ENST00000464496 ENST00000490093 ENST00000493186 ENST00000483906 ENST00000485280
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RAB7A (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RAB7A
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: RAB7A (NM_004637) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RAB7A | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAB7A |
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 24/45 DOTS entries (see all 45): DT.95217730 DT.100033891 DT.450445 DT.100047749 DT.100660146 DT.100812865 DT.100660135 DT.95283342 DT.97867830 DT.120865480 DT.100720266 DT.120865455 DT.120865448 DT.100059636 DT.100059638 DT.100660134 DT.120865494 DT.120865497 DT.65286440 DT.92467567 DT.95283341 DT.100660144 DT.100720250 DT.120865433 24/1200 AceView cDNA sequences (see all 1200): AA476599 BM772323 CR619444 BM906545 CA748715 W73293 BP340307 AA310390 CA395427 AI220128 AI721042 BQ678796 BP343030 AI031798 AU121103 AA449265 BE855747 R68316 AA425847 BM747798 AI079801 BM662305 BQ684537 BQ214089
GeneLoc Exon Structure
|
Expression
for RAB7A gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| RAB7A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTAATATATG
About this image
See RAB7A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RAB7A
SOURCE GeneReport for Unigene cluster: Hs.15738
UniProtKB/Swiss-Prot: RAB7A_HUMAN, P51149Tissue specificity: Widely expressed; high expression found in skeletal muscle
SABiosciences Custom PCR Arrays for RAB7A
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RAB7A
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RAB7A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RAB7A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RAB7A | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAB7A |
Orthologs
for RAB7A gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for RAB7A gene from 9/40 species (see all 40) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
RAB7A1 |
RAB7A, member RAS oncogene family |
86.96(n)
99.03(a) |
|
416016 XM_414359.2 XP_414359.1 |
lizard
(Anolis carolinensis) |
Reptilia |
RAB7A6 |
-- |
100(a) |
1 ↔ 1 |
2(164727894-164733792) |
African clawed frog
(Xenopus laevis) |
Amphibia |
BC060401.12 |
-- |
89.04(n) |
|
BC060401.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
zgc640582 |
similar to RAB family member (23.4 kD) (rab-7) |
81.86(n) |
|
393902 BC054602.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
Rab71 |
Rab-protein 7 |
68.28(n)
76.33(a) |
|
42841 NM_079748.3 NP_524472.1 |
worm
(Caenorhabditis elegans) |
Secernentea |
rab-71 |
Protein RAB-7 |
63.24(n)
72.06(a) |
|
174834 NM_064148.4 NP_496549.1 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
YPT7(YML001W)4
YPT71 |
Rab family GTPase; GTP-binding protein of the rab family; more4
Ypt7p1 |
61.41(n)1
64.53(a)1 |
|
13(267174-267800)4
8550121, 4 NP_013713.11, 4 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
RAB7B1 |
Ras-related protein Rab-7A |
65.68(n)
69.46(a) |
|
821415 NM_112768.2 NP_188512.1 |
rice
(Oryza sativa) |
Liliopsida |
Os.117102 |
Oryza sativa (japonica cultivar-group) cDNA cloneJ more |
77.07(n) |
|
AK070320.1 |
ENSEMBL Gene Tree for RAB7A (if available)
TreeFam Gene Tree for RAB7A (if available) |
Paralogs
for RAB7A gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for RAB7A gene
- RAB9A2 RAB9B2 RAB322 RAB7L12 RAB382
18/101 SIMAP similar genes for RAB7A using alignment to 7 protein entries: RAB7A_HUMAN (see all proteins)
(see all similar genes):RAB6A' RAB23 RAB11A RAB31 RAB38 RAB11B
RAB7L1 RAB5C RAB41 RAB43 RAB6A RAB28
RAB5B RAB2B RAB7B RAB44 RAB25 RAB6B
RAB7A for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for RAB7A
PGOHUM00000236208
|
Genomic Variants
for RAB7A gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for RAB7A (128444965 - 128533641 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for RAB7A: --
Human Gene Mutation Database (HGMD): RAB7A
Locus Specific Mutation Databases (LSDB): RAB7A
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RAB7A |
|
Disorders
/ Diseases
for RAB7A gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
RAB7A for disorders About GeneDecksing
OMIM gene information: 602298
OMIM disorders: 600882
UniProtKB/Swiss-Prot: RAB7A_HUMAN, P51149
Defects in RAB7A are the cause of Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]; also known ashereditary motor and sensory neuropathy II (HMSN2). CMT2B is a form of Charcot-Marie-Tooth disease, the most commoninherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups onthe 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 axonalregeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, andprogressive distal muscle weakness and atrophy. CMT2B is clinically characterized by marked distal muscle weakness anda high frequency of foot ulcers, infections and amputations of the toes. CMT2B inheritance is autosomal dominant
20/28  diseases for RAB7A (see all 28): About MalaCardscharcot-marie-tooth disease charcot-marie-tooth disease type 2 charcot-marie-tooth disease type 2b charcot-marie-tooth neuropathy
charcot-marie-tooth neuropathy type 2 neuropathy venezuelan equine encephalitis tooth disease
axonal neuropathy autonomic neuropathy choroideremia hereditary neuropathies
wilson disease insulin resistance encephalitis hepatocellular carcinoma
alzheimer's disease breast cancer cholesterol tuberculosis
1 Novoseek disease relationship for RAB7A gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| charcot-marie-tooth disease |
75.9 |
4 |
17060578 (1), 15455439 (1), 12545426 (1), 19651702 (1) |
GeneTests: RAB7A
Charcot-Marie-Tooth Neuropathy Type 2
Human Genome Epidemiology (HuGE) Navigator: RAB7A (1 document)
Export disorders for RAB7A gene to outside databases
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Publications
for RAB7A gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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|
PubMed articles for RAB7A gene, integrated from 9 sources (see all 161):
(articles sorted by number of sources associating them with RAB7A) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Cloning and mapping of human Rab7 and Rab9 cDNA sequences and identification of a Rab9 pseudogene. (PubMed id 9126495)1, 2, 3, 9 Davies J.P.... Ioannou Y.A. (1997)
- Human VPS34 and p150 are Rab7 interacting partners. (PubMed id 14617358)1, 2, 9 Stein M.P....Wandinger-Ness A. (2003)
- Rab-interacting lysosomal protein (RILP): the Rab7 effector required for transport to lysosomes. (PubMed id 11179213)1, 2, 9 Cantalupo G.... Bucci C. (2001)
- A novel RAB7 mutation associated with ulcero-mutilating neuropathy. (PubMed id 15455439)1, 2, 9 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, 2, 9 Verhoeven K.... Timmerman V. (2003)
- Rab7: roles in membrane trafficking and disease. (PubMed id 19392663)1, 2 Zhang M....Wang T. (2009)
- Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (2006)
- Novel RING E3 ubiquitin ligases in breast cancer. (PubMed id 16925951)1, 2 Burger A....Seth A.K. (2006)
- The oxysterol-binding protein homologue ORP1L interacts with Rab7 and alters functional properties of late endocytic compartments. (PubMed id 16176980)1, 2 Johansson M....Olkkonen V.M. (2005)
- Structural basis for recruitment of RILP by small GTPase Rab7. (PubMed id 15933719)1, 2 Wu M.... Song H. (2005)
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External Searches for RAB7A gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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|
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Genome Databases showing RAB7A gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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|
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Other Databases showing RAB7A gene
(According to HUGE)
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| -- |
Specialized Databases showing RAB7A gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for RAB7A | Pharmacogenomics, SNPs, Pathways | | Inherited peripheral neuropathies mutation db | http://www.molgen.ua.ac.be/CMTMutations/ | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RAB7A |
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About This Section
| Patent Information for RAB7A gene:
Search GeneIP for patents involving RAB7A
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for RAB7A gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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|
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