Property Summary

NCBI Gene PubMed Count 23
PubMed Score 12.00
PubTator Score 13.72

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (18)

Disease log2 FC p
malignant mesothelioma -2.100 1.9e-07
cutaneous lupus erythematosus 1.400 7.9e-04
astrocytoma 1.900 4.7e-02
glioblastoma 1.600 1.0e-03
oligodendroglioma 1.100 3.5e-07
osteosarcoma 2.269 1.0e-03
posterior fossa group A ependymoma 1.500 3.7e-07
medulloblastoma -2.100 4.1e-05
medulloblastoma, large-cell -2.300 1.2e-07
lung cancer -2.000 3.1e-05
adult high grade glioma 1.600 2.5e-04
pilocytic astrocytoma 1.400 1.3e-06
subependymal giant cell astrocytoma 2.068 1.2e-02
Pick disease 1.500 1.1e-03
ulcerative colitis 1.700 4.8e-05
ovarian cancer -1.500 2.3e-04
pituitary cancer -1.600 4.0e-05
head and neck cancer and chronic obstruc... 1.100 1.8e-04

Gene RIF (10)

PMID Text
26344175 Results confirmed the protective effect of the rs1572931 single nucleotide polymorphism on Parkinson's disease and replicated the results of previous studies, in Iranian subjects.
26021297 Rab29 is a regulator of receptor recycling and this GTPase is a shared participant in immune synapse and primary cilium assembly.
25040112 rs1572931 decreases the risk for Parkinson's disease but not for amyotrophic lateral sclerosis (ALS) and multiple system atrophy(MSA) in the Chinese population. However, the polymorphism is unlikely to be a common cause of sporadic ALS and MSA in the Chinese population
24788816 Results suggest that Rab protein Rab29 is essential for the integrity of the trans-Golgi network (TGN) and participates in the retrograde trafficking of mannose-6-phosphate receptor (M6PR).
24510904 RAB7L1 is a binding partners of LRRK2, a candidate genes for risk for sporadic Parkinson disease, and part of a complex that promotes clearance of Golgi-derived vesicles through the autophagy-lysosome system.
23820587 This study confirmed the associations of RAB7L1 with parkinson disease susceptibility and fail to show significant associations of alzheimer disease genome-wide association study (GWAS) top hits with PD susceptibility in a Korean population.
23395371 This study demonistrated that RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson's disease risk.
22232350 This study demonstrated that specific SNP variations and haplotypes in the PARK16 locus are associated with reduced risk for parkinson disease in Ashkenazim.
21812739 Direct DNA sequencing of the RAB7L1 and SLC41A1 genes within the PARK16 locus in 205 Chinese Parkinson's disease patients shows no significant difference with controls.
20683486 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MGSRDHLFKVLVVGDAAVGKTSLVQRYSQDSFSKHYKSTVGVDFALKVLQWSDYEIVRLQLWDIAGQERF      1 - 70
TSMTRLYYRDASACVIMFDVTNATTFSNSQRWKQDLDSKLTLPNGEPVPCLLLANKCDLSPWAVSRDQID     71 - 140
RFSKENGFTGWTETSVKENKNINEAMRVLIEKMMRNSTEDIMSLSTQGDYINLQTKSSSWSCC           141 - 203
//

Text Mined References (27)

PMID Year Title
26344175 2015 The rs1572931 polymorphism of the RAB7L1 gene promoter is associated with reduced risk of Parkinson's disease.
26021297 2015 The small GTPase Rab29 is a common regulator of immune synapse assembly and ciliogenesis.
25767741 Interaction with the effector dynamin-related protein 1 (Drp1) is an ancient function of Rab32 subfamily proteins.
25040112 2014 An association analysis of the rs1572931 polymorphism of the RAB7L1 gene in Parkinson's disease, amyotrophic lateral sclerosis and multiple system atrophy in China.
24788816 2014 A role of Rab29 in the integrity of the trans-Golgi network and retrograde trafficking of mannose-6-phosphate receptor.
24510904 2014 Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease.
23820587 2013 Alzheimer's disease and Parkinson's disease genome-wide association study top hits and risk of Parkinson's disease in Korean population.
23395371 2013 RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson's disease risk.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22232350 2012 Association of sequence alterations in the putative promoter of RAB7L1 with a reduced parkinson disease risk.
22042847 2011 Proteolytic targeting of Rab29 by an effector protein distinguishes the intracellular compartments of human-adapted and broad-host Salmonella.
22022256 2011 Thousands of rab GTPases for the cell biologist.
21812739 2011 Genetic variants in the RAB7L1 and SLC41A1 genes of the PARK16 locus in Chinese Parkinson's disease patients.
20683486 2010 Genetic variability at the PARK16 locus.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19376974 2009 Roles for endocytic trafficking and phosphatidylinositol 4-kinase III alpha in hepatitis C virus replication.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15231747 2004 A protein interaction framework for human mRNA degradation.
14720509 2004 Sucrose-induced vacuolation results in increased expression of cholesterol biosynthesis and lysosomal genes.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
9284931 1997 Cloning and chromosome assignment to 1q32 of a human cDNA (RAB7L1) encoding a small GTP-binding protein, a member of the RAS superfamily.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.