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RILPL1 (Rab interacting lysosomal protein like 1)

Identity

Alias_symbol (synonym)FLJ39378
Other aliasGOSPEL
RLP1
HGNC (Hugo) RILPL1
LocusID (NCBI) 353116
Atlas_Id 72643
Location 12q24.31  [Link to chromosome band 12q24]
Location_base_pair Starts at 123471086 and ends at 123533718 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PMPCA (9q34.3) / RILPL1 (12q24.31)RBPMS (8p12) / RILPL1 (12q24.31)RILPL1 (12q24.31) / COX8A (11q13.1)
RILPL1 (12q24.31) / PMPCA (9q34.3)RILPL1 (12q24.31) / RILPL1 (12q24.31)RILPL1 (12q24.31) / SARNP (12q13.2)
RILPL1 (12q24.31) / SEC24C (10q22.2)RILPL1 (12q24.31) / TUBB4A (19p13.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)RILPL1   26814
Cards
Entrez_Gene (NCBI)RILPL1  353116  Rab interacting lysosomal protein like 1
AliasesGOSPEL; RLP1
GeneCards (Weizmann)RILPL1
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr12:123471086-123533718 [Contig_View]  RILPL1 [Vega]
TCGA cBioPortalRILPL1
AceView (NCBI)RILPL1
Genatlas (Paris)RILPL1
WikiGenes353116
SOURCE (Princeton)RILPL1
Genetics Home Reference (NIH)RILPL1
Genomic and cartography
GoldenPath hg38 (UCSC)RILPL1  -     chr12:123471086-123533718 -  12q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RILPL1  -     12q24.31   [Description]    (hg19-Feb_2009)
EnsemblRILPL1 - 12q24.31 [CytoView hg19]  RILPL1 - 12q24.31 [CytoView hg38]
Mapping of homologs : NCBIRILPL1 [Mapview hg19]  RILPL1 [Mapview hg38]
OMIM614092   
Gene and transcription
Genbank (Entrez)AK096697 BC041375 BC080626 BC089444 BX281699
RefSeq transcript (Entrez)NM_001319243 NM_001319244 NM_001319302 NM_178314
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RILPL1
Cluster EST : UnigeneHs.530315 [ NCBI ]
CGAP (NCI)Hs.530315
Gene ExpressionRILPL1 [ NCBI-GEO ]   RILPL1 [ EBI - ARRAY_EXPRESS ]   RILPL1 [ SEEK ]   RILPL1 [ MEM ]
Gene Expression Viewer (FireBrowse)RILPL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)353116
GTEX Portal (Tissue expression)RILPL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5EBL4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5EBL4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5EBL4
Splice isoforms : SwissVarQ5EBL4
PhosPhoSitePlusQ5EBL4
Domaine pattern : Prosite (Expaxy)RH1 (PS51776)    RH2 (PS51777)   
Domains : Interpro (EBI)JNK/Rab-associated_protein-1_N    RILP   
Domain families : Pfam (Sanger)Jnk-SapK_ap_N (PF09744)    RILP (PF11461)   
Domain families : Pfam (NCBI)pfam09744    pfam11461   
Conserved Domain (NCBI)RILPL1
DMDM Disease mutations353116
Blocks (Seattle)RILPL1
SuperfamilyQ5EBL4
Peptide AtlasQ5EBL4
HPRD13435
IPIIPI00478521   IPI00644941   IPI00855894   IPI01013660   IPI01018866   
Protein Interaction databases
DIP (DOE-UCLA)Q5EBL4
IntAct (EBI)Q5EBL4
BioGRIDRILPL1
STRING (EMBL)RILPL1
ZODIACRILPL1
Ontologies - Pathways
QuickGOQ5EBL4
Ontology : AmiGOepithelial cell morphogenesis  nucleoplasm  cytoplasm  centrosome  cytosol  cytosol  plasma membrane  cilium  small GTPase binding  ciliary basal body  protein dimerization activity  dynein light intermediate chain binding  cilium assembly  regulation of neuron death  protein transport from ciliary membrane to plasma membrane  
Ontology : EGO-EBIepithelial cell morphogenesis  nucleoplasm  cytoplasm  centrosome  cytosol  cytosol  plasma membrane  cilium  small GTPase binding  ciliary basal body  protein dimerization activity  dynein light intermediate chain binding  cilium assembly  regulation of neuron death  protein transport from ciliary membrane to plasma membrane  
NDEx NetworkRILPL1
Atlas of Cancer Signalling NetworkRILPL1
Wikipedia pathwaysRILPL1
Orthology - Evolution
OrthoDB353116
Phylogenetic Trees/Animal Genes : TreeFamRILPL1
HOVERGENQ5EBL4
HOGENOMQ5EBL4
Homologs : HomoloGeneRILPL1
Homology/Alignments : Family Browser (UCSC)RILPL1
Gene fusions - Rearrangements
Tumor Fusion PortalRILPL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRILPL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RILPL1
dbVarRILPL1
ClinVarRILPL1
1000_GenomesRILPL1 
Exome Variant ServerRILPL1
ExAC (Exome Aggregation Consortium)
Genetic variants : HAPMAP353116
Genomic Variants (DGV)RILPL1 [DGVbeta]
DECIPHERRILPL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRILPL1 
Mutations
ICGC Data PortalRILPL1 
TCGA Data PortalRILPL1 
Broad Tumor PortalRILPL1
OASIS PortalRILPL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRILPL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRILPL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RILPL1
DgiDB (Drug Gene Interaction Database)RILPL1
DoCM (Curated mutations)RILPL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RILPL1 (select a term)
intoGenRILPL1
Cancer3DRILPL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614092   
Orphanet
DisGeNETRILPL1
MedgenRILPL1
Genetic Testing Registry RILPL1
NextProtQ5EBL4 [Medical]
TSGene353116
GENETestsRILPL1
Target ValidationRILPL1
Huge Navigator RILPL1 [HugePedia]
snp3D : Map Gene to Disease353116
BioCentury BCIQRILPL1
ClinGenRILPL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD353116
Chemical/Pharm GKB GenePA162401302
Clinical trialRILPL1
Miscellaneous
canSAR (ICR)RILPL1 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRILPL1
EVEXRILPL1
GoPubMedRILPL1
iHOPRILPL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:27:20 CET 2017

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