Property Summary

NCBI Gene PubMed Count 23
PubMed Score 12.00
PubTator Score 13.72

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (2)

Disease Target Count P-value
medulloblastoma, large-cell 6234 1.24496316384468E-7
malignant mesothelioma 3163 1.85169737418921E-7
oligodendroglioma 2849 3.51366166443173E-7
posterior fossa group A ependymoma 1511 3.71855289514666E-7
pilocytic astrocytoma 3086 1.3299299210972E-6
lung cancer 4473 3.14926315587513E-5
pituitary cancer 1972 4.00893221594936E-5
medulloblastoma 1524 4.07977632401034E-5
ulcerative colitis 2087 4.78967565939145E-5
head and neck cancer and chronic obstructive pulmonary disease 237 1.83370140440319E-4
ovarian cancer 8492 2.26252699777019E-4
adult high grade glioma 2148 2.53853667934792E-4
cutaneous lupus erythematosus 1056 7.86249737948698E-4
glioblastoma 5572 0.00102259637700071
osteosarcoma 7933 0.0010422521324877
Pick disease 1893 0.00109399693797171
subependymal giant cell astrocytoma 2287 0.0121188762164748
astrocytoma 1493 0.0466623934473549
Disease Target Count Z-score Confidence
Parkinson's disease 364 4.21 2.1

Expression

  Differential Expression (18)

Disease log2 FC p
malignant mesothelioma -2.100 0.000
cutaneous lupus erythematosus 1.400 0.001
astrocytoma 1.900 0.047
glioblastoma 1.600 0.001
oligodendroglioma 1.100 0.000
osteosarcoma 2.269 0.001
posterior fossa group A ependymoma 1.500 0.000
medulloblastoma -2.100 0.000
medulloblastoma, large-cell -2.300 0.000
lung cancer -2.000 0.000
adult high grade glioma 1.600 0.000
pilocytic astrocytoma 1.400 0.000
subependymal giant cell astrocytoma 2.068 0.012
Pick disease 1.500 0.001
ulcerative colitis 1.700 0.000
ovarian cancer -1.500 0.000
pituitary cancer -1.600 0.000
head and neck cancer and chronic obstruc... 1.100 0.000

Synonym

Accession O14966 B4E1K3 C9JE77
Symbols RAB7L
RAB7L1

Gene

  Ortholog (10)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA EggNOG
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG
Cow OMA EggNOG
Opossum OMA EggNOG
Platypus OMA EggNOG
Chicken OMA EggNOG Inparanoid
Anole lizard OMA EggNOG

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.
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