Human Gene RAB7L1 (uc010prr.2) Description and Page Index
  Description: Homo sapiens RAB7, member RAS oncogene family-like 1 (RAB7L1), transcript variant 3, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr1:205,737,114-205,744,610 Size: 7,497 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr1:205,739,470-205,744,084 Size: 4,615 Coding Exon Count: 4 

Page IndexSequence and LinksGenetic AssociationsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA DescriptionsPathways
Other NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:205,737,114-205,744,610)mRNA (may differ from genome)Protein (179 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMGIOMIMPubMed
ReactomeStanford SOURCETreefamUniProtKB

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): RAB7L1
CDC HuGE Published Literature: RAB7L1
Positive Disease Associations: Parkinson Disease , Parkinson's disease
Related Studies:
  1. Parkinson Disease
    Wataru Satake et al. Nature genetics 2009, Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease., Nature genetics. [PubMed 19915576]
  2. Parkinson's disease
    Satake ,et al. 2009, Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease, Nature genetics 2009 41- 12 : 1303-7. [PubMed 19915576]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.17 RPKM in Spleen
Total median expression: 345.99 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -235.00526-0.447 Picture PostScript Text
3' UTR -724.042356-0.307 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00025 - ADP-ribosylation factor family
PF00071 - Ras family
PF08477 - Ras of Complex, Roc, domain of DAPkinase

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on O14966-2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  D84488 - Homo sapiens mRNA for small GTP-binding protein, complete cds.
JD365273 - Sequence 346297 from Patent EP1572962.
JD097523 - Sequence 78547 from Patent EP1572962.
JD512569 - Sequence 493593 from Patent EP1572962.
JD351025 - Sequence 332049 from Patent EP1572962.
JD182539 - Sequence 163563 from Patent EP1572962.
JD331799 - Sequence 312823 from Patent EP1572962.
JD531431 - Sequence 512455 from Patent EP1572962.
JD182538 - Sequence 163562 from Patent EP1572962.
JD323090 - Sequence 304114 from Patent EP1572962.
JD307207 - Sequence 288231 from Patent EP1572962.
JD435054 - Sequence 416078 from Patent EP1572962.
JD529804 - Sequence 510828 from Patent EP1572962.
JD430534 - Sequence 411558 from Patent EP1572962.
JD401865 - Sequence 382889 from Patent EP1572962.
JD401864 - Sequence 382888 from Patent EP1572962.
JD435053 - Sequence 416077 from Patent EP1572962.
JD208575 - Sequence 189599 from Patent EP1572962.
JD158725 - Sequence 139749 from Patent EP1572962.
JD095369 - Sequence 76393 from Patent EP1572962.
JD286897 - Sequence 267921 from Patent EP1572962.
JD350715 - Sequence 331739 from Patent EP1572962.
JD533734 - Sequence 514758 from Patent EP1572962.
JD421600 - Sequence 402624 from Patent EP1572962.
JD453661 - Sequence 434685 from Patent EP1572962.
JD075051 - Sequence 56075 from Patent EP1572962.
JD294199 - Sequence 275223 from Patent EP1572962.
JD199530 - Sequence 180554 from Patent EP1572962.
JD432532 - Sequence 413556 from Patent EP1572962.
JD267193 - Sequence 248217 from Patent EP1572962.
JD562906 - Sequence 543930 from Patent EP1572962.
JD345465 - Sequence 326489 from Patent EP1572962.
JD168124 - Sequence 149148 from Patent EP1572962.
BC002585 - Homo sapiens RAB7, member RAS oncogene family-like 1, mRNA (cDNA clone MGC:1653 IMAGE:3140744), complete cds.
BX647960 - Homo sapiens mRNA; cDNA DKFZp686P1051 (from clone DKFZp686P1051).
AK311085 - Homo sapiens cDNA, FLJ18127.
JD219933 - Sequence 200957 from Patent EP1572962.
JD287873 - Sequence 268897 from Patent EP1572962.
JD368461 - Sequence 349485 from Patent EP1572962.
JD377952 - Sequence 358976 from Patent EP1572962.
JD249513 - Sequence 230537 from Patent EP1572962.
JD085067 - Sequence 66091 from Patent EP1572962.
JD447639 - Sequence 428663 from Patent EP1572962.
JD331988 - Sequence 313012 from Patent EP1572962.
JD138206 - Sequence 119230 from Patent EP1572962.
JD344658 - Sequence 325682 from Patent EP1572962.
JD446954 - Sequence 427978 from Patent EP1572962.
JD441946 - Sequence 422970 from Patent EP1572962.
JD266217 - Sequence 247241 from Patent EP1572962.
JD440798 - Sequence 421822 from Patent EP1572962.
JD058415 - Sequence 39439 from Patent EP1572962.
JD101096 - Sequence 82120 from Patent EP1572962.
JD143877 - Sequence 124901 from Patent EP1572962.
JD545710 - Sequence 526734 from Patent EP1572962.
JD426980 - Sequence 408004 from Patent EP1572962.
JD533199 - Sequence 514223 from Patent EP1572962.
JD211138 - Sequence 192162 from Patent EP1572962.
JD044770 - Sequence 25794 from Patent EP1572962.
JD453087 - Sequence 434111 from Patent EP1572962.
JD491220 - Sequence 472244 from Patent EP1572962.
JD452274 - Sequence 433298 from Patent EP1572962.
JD249820 - Sequence 230844 from Patent EP1572962.
JD148289 - Sequence 129313 from Patent EP1572962.
AK308359 - Homo sapiens cDNA, FLJ98307.
AK303879 - Homo sapiens cDNA FLJ51782 complete cds, highly similar to Ras-related protein Rab-7L1.
JD247661 - Sequence 228685 from Patent EP1572962.
JD277888 - Sequence 258912 from Patent EP1572962.
JD183704 - Sequence 164728 from Patent EP1572962.
JD111080 - Sequence 92104 from Patent EP1572962.
AK223514 - Homo sapiens mRNA for RAB7, member RAS oncogene family-like 1 variant, clone: FCC122C03.
JD150727 - Sequence 131751 from Patent EP1572962.
JD553397 - Sequence 534421 from Patent EP1572962.
JD538760 - Sequence 519784 from Patent EP1572962.
JD565619 - Sequence 546643 from Patent EP1572962.
BT019540 - Homo sapiens RAB7, member RAS oncogene family-like 1 mRNA, complete cds.
DQ891917 - Synthetic construct clone IMAGE:100004547; FLH181397.01X; RZPDo839C12136D RAB7, member RAS oncogene family-like 1 (RAB7L1) gene, encodes complete protein.
AK313000 - Homo sapiens cDNA, FLJ93464, highly similar to Homo sapiens RAB7, member RAS oncogene family-like 1 (RAB7L1), mRNA.
KJ892656 - Synthetic construct Homo sapiens clone ccsbBroadEn_02050 RAB7L1 gene, encodes complete protein.
DQ896838 - Synthetic construct Homo sapiens clone IMAGE:100011298; FLH181393.01L; RZPDo839C12135D RAB7, member RAS oncogene family-like 1 (RAB7L1) gene, encodes complete protein.
EU176654 - Synthetic construct Homo sapiens clone IMAGE:100011658; FLH264091.01L; RZPDo839F11257D RAB7, member RAS oncogene family-like 1 (RAB7L1) gene, encodes complete protein.
CR542010 - Homo sapiens full open reading frame cDNA clone RZPDo834H0235D for gene RAB7L1, RAB7, member RAS oncogene family-like 1; complete cds, without stopcodon.
AB528325 - Synthetic construct DNA, clone: pF1KB5013, Homo sapiens RAB7L1 gene for RAB7, member RAS oncogene family-like 1, without stop codon, in Flexi system.
JD126285 - Sequence 107309 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O14966 (Reactome details) participates in the following event(s):

R-HSA-8870466 RGGT:CHM binds RABs
R-HSA-8870469 RGGT geranylgeranylates RAB proteins
R-HSA-8873719 RAB geranylgeranylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: NM_001135663, NP_001129136, O14966-2
UCSC ID: uc010prr.2
RefSeq Accession: NM_001135663
Protein: O14966-2, splice isoform of O14966 CCDS: CCDS44301.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001135663.1
exon count: 4CDS single in 3' UTR: no RNA size: 3438
ORF size: 540CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1235.00frame shift in genome: no % Coverage: 99.53
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 396# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.