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RB1CC1 (RB1 inducible coiled-coil 1)

Identity

Alias_symbol (synonym)KIAA0203
Cc1
DRAGOU14
FIP200
ATG17
PPP1R131
Other aliasCC1
HGNC (Hugo) RB1CC1
LocusID (NCBI) 9821
Atlas_Id 42060
Location 8q11.23  [Link to chromosome band 8q11]
Location_base_pair Starts at 53535018 and ends at 53627026 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ARMC1 (8q13.1) / RB1CC1 (8q11.23)FOXO1 (13q14.11) / RB1CC1 (8q11.23)PCMTD1 (8q11.23) / RB1CC1 (8q11.23)
RB1CC1 (8q11.23) / PTPN3 (9q31.3)RB1CC1 (8q11.23) / SMARCC2 (12q13.2)TAOK1 (17q11.2) / RB1CC1 (8q11.23)
ARMC1 8q13.1 / RB1CC1 8q11.23PCMTD1 8q11.23 / RB1CC1 8q11.23RB1CC1 8q11.23 / PTPN3 9q31.3
TAOK1 17q11.2 / RB1CC1 8q11.23

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)RB1CC1   15574
Cards
Entrez_Gene (NCBI)RB1CC1  9821  RB1 inducible coiled-coil 1
AliasesATG17; CC1; FIP200; PPP1R131
GeneCards (Weizmann)RB1CC1
Ensembl hg19 (Hinxton)ENSG00000023287 [Gene_View]  chr8:53535018-53627026 [Contig_View]  RB1CC1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000023287 [Gene_View]  chr8:53535018-53627026 [Contig_View]  RB1CC1 [Vega]
ICGC DataPortalENSG00000023287
TCGA cBioPortalRB1CC1
AceView (NCBI)RB1CC1
Genatlas (Paris)RB1CC1
WikiGenes9821
SOURCE (Princeton)RB1CC1
Genetics Home Reference (NIH)RB1CC1
Genomic and cartography
GoldenPath hg19 (UCSC)RB1CC1  -     chr8:53535018-53627026 -  8q11.23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RB1CC1  -     8q11.23   [Description]    (hg38-Dec_2013)
EnsemblRB1CC1 - 8q11.23 [CytoView hg19]  RB1CC1 - 8q11.23 [CytoView hg38]
Mapping of homologs : NCBIRB1CC1 [Mapview hg19]  RB1CC1 [Mapview hg38]
OMIM114480   606837   
Gene and transcription
Genbank (Entrez)AB059622 AK291699 AK294579 AK307436 AY173931
RefSeq transcript (Entrez)NM_001083617 NM_014781
RefSeq genomic (Entrez)NC_000008 NC_018919 NG_015833 NT_008183 NW_004929339
Consensus coding sequences : CCDS (NCBI)RB1CC1
Cluster EST : UnigeneHs.196102 [ NCBI ]
CGAP (NCI)Hs.196102
Alternative Splicing GalleryENSG00000023287
Gene ExpressionRB1CC1 [ NCBI-GEO ]   RB1CC1 [ EBI - ARRAY_EXPRESS ]   RB1CC1 [ SEEK ]   RB1CC1 [ MEM ]
Gene Expression Viewer (FireBrowse)RB1CC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9821
GTEX Portal (Tissue expression)RB1CC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TDY2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TDY2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TDY2
Splice isoforms : SwissVarQ8TDY2
PhosPhoSitePlusQ8TDY2
Domains : Interpro (EBI)Autophagy-rel_p11   
Domain families : Pfam (Sanger)ATG11 (PF10377)   
Domain families : Pfam (NCBI)pfam10377   
Conserved Domain (NCBI)RB1CC1
DMDM Disease mutations9821
Blocks (Seattle)RB1CC1
SuperfamilyQ8TDY2
Human Protein AtlasENSG00000023287
Peptide AtlasQ8TDY2
HPRD06019
IPIIPI00783392   IPI00794069   IPI00980384   IPI00983250   IPI00974147   IPI00974370   IPI00979727   IPI00983935   
Protein Interaction databases
DIP (DOE-UCLA)Q8TDY2
IntAct (EBI)Q8TDY2
FunCoupENSG00000023287
BioGRIDRB1CC1
STRING (EMBL)RB1CC1
ZODIACRB1CC1
Ontologies - Pathways
QuickGOQ8TDY2
Ontology : AmiGOautophagosome assembly  liver development  positive regulation of protein phosphorylation  protein binding  cytoplasm  cytosol  transcription, DNA-templated  regulation of transcription, DNA-templated  cell cycle  JNK cascade  heart development  regulation of autophagy  macroautophagy  protein kinase binding  nuclear membrane  pre-autophagosomal structure membrane  pre-autophagosomal structure membrane  positive regulation of cell size  ATG1/ULK1 kinase complex  negative regulation of extrinsic apoptotic signaling pathway  
Ontology : EGO-EBIautophagosome assembly  liver development  positive regulation of protein phosphorylation  protein binding  cytoplasm  cytosol  transcription, DNA-templated  regulation of transcription, DNA-templated  cell cycle  JNK cascade  heart development  regulation of autophagy  macroautophagy  protein kinase binding  nuclear membrane  pre-autophagosomal structure membrane  pre-autophagosomal structure membrane  positive regulation of cell size  ATG1/ULK1 kinase complex  negative regulation of extrinsic apoptotic signaling pathway  
Pathways : BIOCARTAStathmin and breast cancer resistance to antimicrotubule agents [Genes]   
NDEx NetworkRB1CC1
Atlas of Cancer Signalling NetworkRB1CC1
Wikipedia pathwaysRB1CC1
Orthology - Evolution
OrthoDB9821
GeneTree (enSembl)ENSG00000023287
Phylogenetic Trees/Animal Genes : TreeFamRB1CC1
HOVERGENQ8TDY2
HOGENOMQ8TDY2
Homologs : HomoloGeneRB1CC1
Homology/Alignments : Family Browser (UCSC)RB1CC1
Gene fusions - Rearrangements
Fusion : MitelmanARMC1/RB1CC1 [8q13.1/8q11.23]  [t(8;8)(q11;q13)]  
Fusion : MitelmanPCMTD1/RB1CC1 [8q11.23/8q11.23]  [t(8;8)(q11;q11)]  
Fusion : MitelmanRB1CC1/PTPN3 [8q11.23/9q31.3]  [t(8;9)(q11;q31)]  
Fusion : MitelmanTAOK1/RB1CC1 [17q11.2/8q11.23]  [t(8;17)(q11;q11)]  
Fusion: TCGAARMC1 8q13.1 RB1CC1 8q11.23 BRCA
Fusion: TCGAPCMTD1 8q11.23 RB1CC1 8q11.23 BRCA
Fusion: TCGARB1CC1 8q11.23 PTPN3 9q31.3 PRAD
Fusion: TCGATAOK1 17q11.2 RB1CC1 8q11.23 BLCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRB1CC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RB1CC1
dbVarRB1CC1
ClinVarRB1CC1
1000_GenomesRB1CC1 
Exome Variant ServerRB1CC1
ExAC (Exome Aggregation Consortium)RB1CC1 (select the gene name)
Genetic variants : HAPMAP9821
Genomic Variants (DGV)RB1CC1 [DGVbeta]
DECIPHER (Syndromes)8:53535018-53627026  ENSG00000023287
CONAN: Copy Number AnalysisRB1CC1 
Mutations
ICGC Data PortalRB1CC1 
TCGA Data PortalRB1CC1 
Broad Tumor PortalRB1CC1
OASIS PortalRB1CC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRB1CC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRB1CC1
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 RB1CC1
DgiDB (Drug Gene Interaction Database)RB1CC1
DoCM (Curated mutations)RB1CC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RB1CC1 (select a term)
intoGenRB1CC1
Cancer3DRB1CC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114480    606837   
Orphanet
MedgenRB1CC1
Genetic Testing Registry RB1CC1
NextProtQ8TDY2 [Medical]
TSGene9821
GENETestsRB1CC1
Huge Navigator RB1CC1 [HugePedia]
snp3D : Map Gene to Disease9821
BioCentury BCIQRB1CC1
ClinGenRB1CC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9821
Chemical/Pharm GKB GenePA34248
Clinical trialRB1CC1
Miscellaneous
canSAR (ICR)RB1CC1 (select the gene name)
Probes
Litterature
PubMed72 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRB1CC1
EVEXRB1CC1
GoPubMedRB1CC1
iHOPRB1CC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:17:00 CEST 2017

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