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RABGAP1L (RAB GTPase activating protein 1-like)

Identity

Other namesHHL
TBC1D18
HGNC (Hugo) RABGAP1L
LocusID (NCBI) 9910
Atlas_Id 46970
Location 1q25.1  [Link to chromosome band 1q25]
Location_base_pair Starts at 174844656 and ends at 174927327 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AFF1 (4q21.3) / RABGAP1L (1q25.1)CACYBP (1q25.1) / RABGAP1L (1q25.1)CNKSR3 (6q25.2) / RABGAP1L (1q25.1)
KDM5B (1q32.1) / RABGAP1L (1q25.1)RABGAP1L (1q25.1) / ACBD6 (1q25.2)RABGAP1L (1q25.1) / ALB (4q13.3)
RABGAP1L (1q25.1) / CACYBP (1q25.1)RABGAP1L (1q25.1) / CD68 (17p13.1)RABGAP1L (1q25.1) / CLIP1 (12q24.31)
RABGAP1L (1q25.1) / KLHL20 (1q25.1)RABGAP1L (1q25.1) / KMT2A (11q23.3)RABGAP1L (1q25.1) / LGR6 (1q32.1)
RABGAP1L (1q25.1) / OSER1 (20q13.12)RABGAP1L (1q25.1) / RNF212 (4p16.3)RABGAP1L (1q25.1) / TUBB1 (20q13.32)
RABGAP1L (1q25.1) / ZBTB37 (1q25.1)SERP1 (3q25.1) / RABGAP1L (1q25.1)SLC38A11 (2q24.3) / RABGAP1L (1q25.1)
SPAG17 (1p12) / RABGAP1L (1q25.1)SQSTM1 (5q35.3) / RABGAP1L (1q25.1)UBE2E1 (3p24.3) / RABGAP1L (1q25.1)
KDM5B 1q32.1 / RABGAP1L 1q25.1RABGAP1L 1q25.1 / ACBD6 1q25.2RABGAP1L 1q25.1 / LGR6 1q32.1
SLC38A11 2q24.3 / RABGAP1L 1q25.1SPAG17 1p12 / RABGAP1L 1q25.1

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)RABGAP1L   24663
Cards
Entrez_Gene (NCBI)RABGAP1L  9910  RAB GTPase activating protein 1-like
AliasesHHL; TBC1D18
GeneCards (Weizmann)RABGAP1L
Ensembl hg19 (Hinxton)ENSG00000152061 [Gene_View]  chr1:174844656-174927327 [Contig_View]  RABGAP1L [Vega]
Ensembl hg38 (Hinxton)ENSG00000152061 [Gene_View]  chr1:174844656-174927327 [Contig_View]  RABGAP1L [Vega]
ICGC DataPortalENSG00000152061
TCGA cBioPortalRABGAP1L
AceView (NCBI)RABGAP1L
Genatlas (Paris)RABGAP1L
WikiGenes9910
SOURCE (Princeton)RABGAP1L
Genomic and cartography
GoldenPath hg19 (UCSC)RABGAP1L  -     chr1:174844656-174927327 +  1q25.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RABGAP1L  -     1q25.1   [Description]    (hg38-Dec_2013)
EnsemblRABGAP1L - 1q25.1 [CytoView hg19]  RABGAP1L - 1q25.1 [CytoView hg38]
Mapping of homologs : NCBIRABGAP1L [Mapview hg19]  RABGAP1L [Mapview hg38]
OMIM609238   
Gene and transcription
Genbank (Entrez)AA836500 AB007940 AB019490 AB019491 AB019492
RefSeq transcript (Entrez)NM_001035230 NM_001243763 NM_001243764 NM_001243765 NM_014857
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)RABGAP1L
Cluster EST : UnigeneHs.744937 [ NCBI ]
CGAP (NCI)Hs.744937
Alternative Splicing GalleryENSG00000152061
Gene ExpressionRABGAP1L [ NCBI-GEO ]   RABGAP1L [ EBI - ARRAY_EXPRESS ]   RABGAP1L [ SEEK ]   RABGAP1L [ MEM ]
Gene Expression Viewer (FireBrowse)RABGAP1L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9910
GTEX Portal (Tissue expression)RABGAP1L
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5R372 (Uniprot)
NextProtQ5R372  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5R372
Splice isoforms : SwissVarQ5R372 (Swissvar)
PhosPhoSitePlusQ5R372
Domaine pattern : Prosite (Expaxy)PID (PS01179)    TBC_RABGAP (PS50086)   
Domains : Interpro (EBI)Kinesin-like    PH_dom-like    PTB/PI_dom    Rab-GTPase-TBC_dom   
Domain families : Pfam (Sanger)DUF3694 (PF12473)    RabGAP-TBC (PF00566)   
Domain families : Pfam (NCBI)pfam12473    pfam00566   
Domain families : Smart (EMBL)PTB (SM00462)  TBC (SM00164)  
DMDM Disease mutations9910
Blocks (Seattle)RABGAP1L
PDB (SRS)3HZJ   
PDB (PDBSum)3HZJ   
PDB (IMB)3HZJ   
PDB (RSDB)3HZJ   
Structural Biology KnowledgeBase3HZJ   
SCOP (Structural Classification of Proteins)3HZJ   
CATH (Classification of proteins structures)3HZJ   
SuperfamilyQ5R372
Human Protein AtlasENSG00000152061
Peptide AtlasQ5R372
HPRD16464
IPIIPI00396010   IPI00418300   IPI00477388   IPI00902948   IPI00465119   IPI00641910   IPI00006648   IPI00646639   IPI00334655   IPI01025220   IPI00514224   IPI01022185   IPI00383812   IPI00981480   IPI00982411   
Protein Interaction databases
DIP (DOE-UCLA)Q5R372
IntAct (EBI)Q5R372
FunCoupENSG00000152061
BioGRIDRABGAP1L
STRING (EMBL)RABGAP1L
ZODIACRABGAP1L
Ontologies - Pathways
QuickGOQ5R372
Ontology : AmiGOGTPase activator activity  protein binding  nucleus  early endosome  Golgi apparatus  intracellular protein transport  Rab GTPase binding  regulation of vesicle fusion  regulation of protein localization  activation of GTPase activity  
Ontology : EGO-EBIGTPase activator activity  protein binding  nucleus  early endosome  Golgi apparatus  intracellular protein transport  Rab GTPase binding  regulation of vesicle fusion  regulation of protein localization  activation of GTPase activity  
NDEx Network
Atlas of Cancer Signalling NetworkRABGAP1L
Wikipedia pathwaysRABGAP1L
Orthology - Evolution
OrthoDB9910
GeneTree (enSembl)ENSG00000152061
Phylogenetic Trees/Animal Genes : TreeFamRABGAP1L
Homologs : HomoloGeneRABGAP1L
Homology/Alignments : Family Browser (UCSC)RABGAP1L
Gene fusions - Rearrangements
Fusion: TCGAKDM5B 1q32.1 RABGAP1L 1q25.1 BRCA
Fusion: TCGARABGAP1L 1q25.1 ACBD6 1q25.2 BRCA
Fusion: TCGARABGAP1L 1q25.1 LGR6 1q32.1 BRCA
Fusion: TCGASLC38A11 2q24.3 RABGAP1L 1q25.1 BRCA
Fusion: TCGASPAG17 1p12 RABGAP1L 1q25.1 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerRABGAP1L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RABGAP1L
dbVarRABGAP1L
ClinVarRABGAP1L
1000_GenomesRABGAP1L 
Exome Variant ServerRABGAP1L
ExAC (Exome Aggregation Consortium)RABGAP1L (select the gene name)
Genetic variants : HAPMAP9910
Genomic Variants (DGV)RABGAP1L [DGVbeta]
Mutations
ICGC Data PortalRABGAP1L 
TCGA Data PortalRABGAP1L 
Broad Tumor PortalRABGAP1L
OASIS PortalRABGAP1L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRABGAP1L 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RABGAP1L
DgiDB (Drug Gene Interaction Database)RABGAP1L
DoCM (Curated mutations)RABGAP1L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RABGAP1L (select a term)
intoGenRABGAP1L
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:174844656-174927327  ENSG00000152061
CONAN: Copy Number AnalysisRABGAP1L 
Mutations and Diseases : HGMDRABGAP1L
OMIM609238   
MedgenRABGAP1L
Genetic Testing Registry RABGAP1L
NextProtQ5R372 [Medical]
TSGene9910
GENETestsRABGAP1L
Huge Navigator RABGAP1L [HugePedia]
snp3D : Map Gene to Disease9910
BioCentury BCIQRABGAP1L
ClinGenRABGAP1L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9910
Chemical/Pharm GKB GenePA134940645
Clinical trialRABGAP1L
Miscellaneous
canSAR (ICR)RABGAP1L (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRABGAP1L
EVEXRABGAP1L
GoPubMedRABGAP1L
iHOPRABGAP1L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 9 19:14:52 CEST 2016

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