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RB1CC1 (RB1 inducible coiled-coil 1)

Identity

Alias (NCBI)ATG17
CC1
FIP200
PPP1R131
HGNC (Hugo) RB1CC1
HGNC Alias symbKIAA0203
Cc1
DRAGOU14
FIP200
ATG17
PPP1R131
HGNC Alias name200 kDa FAK family kinase-interacting protein
 phosphatase 1, regulatory subunit 131
LocusID (NCBI) 9821
Atlas_Id 42060
Location 8q11.23  [Link to chromosome band 8q11]
Location_base_pair Starts at 52622458 and ends at 52714435 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)
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    RB1 inducible coiled-coil 1
AliasesATG17; CC1; FIP200; PPP1R131
GeneCards (Weizmann)RB1CC1
Ensembl hg19 (Hinxton)ENSG00000023287 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000023287 [Gene_View]  ENSG00000023287 [Sequence]  chr8:52622458-52714435 [Contig_View]  RB1CC1 [Vega]
ICGC DataPortalENSG00000023287
TCGA cBioPortalRB1CC1
AceView (NCBI)RB1CC1
Genatlas (Paris)RB1CC1
SOURCE (Princeton)RB1CC1
Genetics Home Reference (NIH)RB1CC1
Genomic and cartography
GoldenPath hg38 (UCSC)RB1CC1  -     chr8:52622458-52714435 -  8q11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RB1CC1  -     8q11.23   [Description]    (hg19-Feb_2009)
GoldenPathRB1CC1 - 8q11.23 [CytoView hg19]  RB1CC1 - 8q11.23 [CytoView hg38]
ImmunoBaseENSG00000023287
Genome Data Viewer NCBIRB1CC1 [Mapview hg19]  
OMIM114480   606837   
Gene and transcription
Genbank (Entrez)AB059622 AK291699 AK294579 AK307436 AY173931
RefSeq transcript (Entrez)NM_001083617 NM_014781
Consensus coding sequences : CCDS (NCBI)RB1CC1
Gene ExpressionRB1CC1 [ NCBI-GEO ]   RB1CC1 [ EBI - ARRAY_EXPRESS ]   RB1CC1 [ SEEK ]   RB1CC1 [ MEM ]
Gene Expression Viewer (FireBrowse)RB1CC1 [ Firebrowse - Broad ]
GenevisibleExpression of RB1CC1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9821
GTEX Portal (Tissue expression)RB1CC1
Human Protein AtlasENSG00000023287-RB1CC1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ8TDY2
Domains : Interpro (EBI)ATG11    Atg11_C   
Domain families : Pfam (Sanger)ATG11 (PF10377)   
Domain families : Pfam (NCBI)pfam10377   
Conserved Domain (NCBI)RB1CC1
PDB (RSDB)6DCE    6GMA   
PDB Europe6DCE    6GMA   
PDB (PDBSum)6DCE    6GMA   
PDB (IMB)6DCE    6GMA   
Structural Biology KnowledgeBase6DCE    6GMA   
SCOP (Structural Classification of Proteins)6DCE    6GMA   
CATH (Classification of proteins structures)6DCE    6GMA   
SuperfamilyQ8TDY2
AlphaFold pdb e-kbQ8TDY2   
Human Protein Atlas [tissue]ENSG00000023287-RB1CC1 [tissue]
HPRD06019
Protein Interaction databases
DIP (DOE-UCLA)Q8TDY2
IntAct (EBI)Q8TDY2
BioGRIDRB1CC1
STRING (EMBL)RB1CC1
ZODIACRB1CC1
Ontologies - Pathways
QuickGOQ8TDY2
Ontology : AmiGOautophagosome assembly  autophagosome assembly  phagophore assembly site  autophagosome membrane  autophagy of mitochondrion  liver development  positive regulation of protein phosphorylation  protein binding  lysosome  endoplasmic reticulum membrane  cytosol  cytosol  autophagy  cell cycle  heart development  macroautophagy  regulation of macroautophagy  extrinsic component of membrane  protein kinase binding  autophagy of peroxisome  nuclear membrane  phagophore assembly site membrane  phagophore assembly site membrane  piecemeal microautophagy of the nucleus  positive regulation of cell size  positive regulation of JNK cascade  molecular adaptor activity  reticulophagy  glycophagy  Atg1/ULK1 kinase complex  Atg1/ULK1 kinase complex  negative regulation of extrinsic apoptotic signaling pathway  
Ontology : EGO-EBIautophagosome assembly  autophagosome assembly  phagophore assembly site  autophagosome membrane  autophagy of mitochondrion  liver development  positive regulation of protein phosphorylation  protein binding  lysosome  endoplasmic reticulum membrane  cytosol  cytosol  autophagy  cell cycle  heart development  macroautophagy  regulation of macroautophagy  extrinsic component of membrane  protein kinase binding  autophagy of peroxisome  nuclear membrane  phagophore assembly site membrane  phagophore assembly site membrane  piecemeal microautophagy of the nucleus  positive regulation of cell size  positive regulation of JNK cascade  molecular adaptor activity  reticulophagy  glycophagy  Atg1/ULK1 kinase complex  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
Homologs : HomoloGeneRB1CC1
Homology/Alignments : Family Browser (UCSC)RB1CC1
Gene fusions - Rearrangements
Fusion : MitelmanARMC1/RB1CC1 [8q13.1/8q11.23]  
Fusion : MitelmanPCMTD1/RB1CC1 [8q11.23/8q11.23]  
Fusion : MitelmanRB1CC1/PTPN3 [8q11.23/9q31.3]  
Fusion : MitelmanTAOK1/RB1CC1 [17q11.2/8q11.23]  
Fusion : QuiverRB1CC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRB1CC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RB1CC1
dbVarRB1CC1
ClinVarRB1CC1
MonarchRB1CC1
1000_GenomesRB1CC1 
Exome Variant ServerRB1CC1
GNOMAD BrowserENSG00000023287
Varsome BrowserRB1CC1
ACMGRB1CC1 variants
VarityQ8TDY2
Genomic Variants (DGV)RB1CC1 [DGVbeta]
DECIPHERRB1CC1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DRB1CC1
Mutations and Diseases : HGMDRB1CC1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaRB1CC1
DgiDB (Drug Gene Interaction Database)RB1CC1
DoCM (Curated mutations)RB1CC1
CIViC (Clinical Interpretations of Variants in Cancer)RB1CC1
Cancer3DRB1CC1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114480    606837   
Orphanet
DisGeNETRB1CC1
MedgenRB1CC1
Genetic Testing Registry RB1CC1
NextProtQ8TDY2 [Medical]
GENETestsRB1CC1
Target ValidationRB1CC1
Huge Navigator RB1CC1 [HugePedia]
ClinGenRB1CC1
Clinical trials, drugs, therapy
MyCancerGenomeRB1CC1
Protein Interactions : CTDRB1CC1
Pharm GKB GenePA34248
PharosQ8TDY2
Clinical trialRB1CC1
Miscellaneous
canSAR (ICR)RB1CC1
HarmonizomeRB1CC1
DataMed IndexRB1CC1
Probes
Litterature
PubMed120 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXRB1CC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:28:23 CEST 2021

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