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RILPL1 (Rab interacting lysosomal protein like 1)

Identity

Alias (NCBI)GOSPEL
RLP1
HGNC (Hugo) RILPL1
HGNC Alias symbFLJ39378
LocusID (NCBI) 353116
Atlas_Id 72643
Location 12q24.31  [Link to chromosome band 12q24]
Location_base_pair Starts at 123470054 and ends at 123533719 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    Rab interacting lysosomal protein like 1
AliasesGOSPEL; RLP1
GeneCards (Weizmann)RILPL1
Ensembl hg19 (Hinxton)ENSG00000188026 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000188026 [Gene_View]  ENSG00000188026 [Sequence]  chr12:123470054-123533719 [Contig_View]  RILPL1 [Vega]
ICGC DataPortalENSG00000188026
TCGA cBioPortalRILPL1
AceView (NCBI)RILPL1
Genatlas (Paris)RILPL1
SOURCE (Princeton)RILPL1
Genetics Home Reference (NIH)RILPL1
Genomic and cartography
GoldenPath hg38 (UCSC)RILPL1  -     chr12:123470054-123533719 -  12q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RILPL1  -     12q24.31   [Description]    (hg19-Feb_2009)
GoldenPathRILPL1 - 12q24.31 [CytoView hg19]  RILPL1 - 12q24.31 [CytoView hg38]
ImmunoBaseENSG00000188026
Genome Data Viewer NCBIRILPL1 [Mapview hg19]  
OMIM614092   
Gene and transcription
Genbank (Entrez)AK096697 BC041375 BC080626 BC089444 BX281699
RefSeq transcript (Entrez)NM_001319243 NM_001319244 NM_001319302 NM_178314
Consensus coding sequences : CCDS (NCBI)RILPL1
Gene ExpressionRILPL1 [ NCBI-GEO ]   RILPL1 [ EBI - ARRAY_EXPRESS ]   RILPL1 [ SEEK ]   RILPL1 [ MEM ]
Gene Expression Viewer (FireBrowse)RILPL1 [ Firebrowse - Broad ]
GenevisibleExpression of RILPL1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)353116
GTEX Portal (Tissue expression)RILPL1
Human Protein AtlasENSG00000188026-RILPL1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ5EBL4
Domaine pattern : Prosite (Expaxy)RH1 (PS51776)    RH2 (PS51777)   
Domains : Interpro (EBI)JNK/Rab-associated_protein-1_N    RH1    RH2    RILP_dimer   
Domain families : Pfam (Sanger)Jnk-SapK_ap_N (PF09744)    RILP (PF11461)   
Domain families : Pfam (NCBI)pfam09744    pfam11461   
Conserved Domain (NCBI)RILPL1
SuperfamilyQ5EBL4
AlphaFold pdb e-kbQ5EBL4   
Human Protein Atlas [tissue]ENSG00000188026-RILPL1 [tissue]
HPRD13435
Protein Interaction databases
DIP (DOE-UCLA)Q5EBL4
IntAct (EBI)Q5EBL4
BioGRIDRILPL1
STRING (EMBL)RILPL1
ZODIACRILPL1
Ontologies - Pathways
QuickGOQ5EBL4
Ontology : AmiGOepithelial cell morphogenesis  protein binding  nucleoplasm  cytoplasm  centrosome  centriole  cytosol  cytosol  plasma membrane  cilium  ciliary basal body  protein dimerization activity  cilium assembly  regulation of neuron death  protein transport from ciliary membrane to plasma membrane  
Ontology : EGO-EBIepithelial cell morphogenesis  protein binding  nucleoplasm  cytoplasm  centrosome  centriole  cytosol  cytosol  plasma membrane  cilium  ciliary basal body  protein dimerization activity  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
GeneTree (enSembl)ENSG00000188026
Phylogenetic Trees/Animal Genes : TreeFamRILPL1
Homologs : HomoloGeneRILPL1
Homology/Alignments : Family Browser (UCSC)RILPL1
Gene fusions - Rearrangements
Fusion : QuiverRILPL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRILPL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RILPL1
dbVarRILPL1
ClinVarRILPL1
MonarchRILPL1
1000_GenomesRILPL1 
Exome Variant ServerRILPL1
GNOMAD BrowserENSG00000188026
Varsome BrowserRILPL1
ACMGRILPL1 variants
VarityQ5EBL4
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]  
Somatic Mutations in Cancer : COSMIC3DRILPL1
Mutations and Diseases : HGMDRILPL1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaRILPL1
DgiDB (Drug Gene Interaction Database)RILPL1
DoCM (Curated mutations)RILPL1
CIViC (Clinical Interpretations of Variants in Cancer)RILPL1
Cancer3DRILPL1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614092   
Orphanet
DisGeNETRILPL1
MedgenRILPL1
Genetic Testing Registry RILPL1
NextProtQ5EBL4 [Medical]
GENETestsRILPL1
Target ValidationRILPL1
Huge Navigator RILPL1 [HugePedia]
ClinGenRILPL1
Clinical trials, drugs, therapy
MyCancerGenomeRILPL1
Protein Interactions : CTDRILPL1
Pharm GKB GenePA162401302
PharosQ5EBL4
Clinical trialRILPL1
Miscellaneous
canSAR (ICR)RILPL1
HarmonizomeRILPL1
ARCHS4RILPL1
DataMed IndexRILPL1
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXRILPL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun Jan 16 19:21:51 CET 2022

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