ENSG00000023287


Homo sapiens

Features
Gene ID: ENSG00000023287
  
Biological name :RB1CC1
  
Synonyms : Q8TDY2 / RB1CC1 / RB1 inducible coiled-coil 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: -1
Band: q11.23
Gene start: 52622456
Gene end: 52745843
  
Corresponding Affymetrix probe sets: 202033_s_at (Human Genome U133 Plus 2.0 Array)   202034_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000429611
Ensembl peptide - ENSP00000429115
Ensembl peptide - ENSP00000429879
Ensembl peptide - ENSP00000430809
Ensembl peptide - ENSP00000430792
Ensembl peptide - ENSP00000429918
Ensembl peptide - ENSP00000025008
Ensembl peptide - ENSP00000396067
NCBI entrez gene - 9821     See in Manteia.
OMIM - 606837
RefSeq - XM_017014112
RefSeq - XM_017014103
RefSeq - XM_017014104
RefSeq - XM_017014105
RefSeq - XM_017014106
RefSeq - XM_017014107
RefSeq - XM_017014108
RefSeq - XM_017014109
RefSeq - XM_017014110
RefSeq - XM_017014111
RefSeq - NM_001083617
RefSeq - NM_014781
RefSeq - XM_011517643
RefSeq - XM_011517644
RefSeq - XM_011517645
RefSeq - XM_011517646
RefSeq - XM_011517647
RefSeq Peptide - NP_001077086
RefSeq Peptide - NP_055596
swissprot - E5RH63
swissprot - H0YC28
swissprot - E5RJC1
swissprot - Q8TDY2
swissprot - E5RH44
swissprot - H0YC30
swissprot - E5RHX0
Ensembl - ENSG00000023287
  
Related genetic diseases (OMIM): 114480 - Breast cancer, somatic, 114480
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 rb1cc1ENSDARG00000076559Danio rerio
 RB1CC1ENSGALG00000015259Gallus gallus
 Q9ESK9ENSMUSG00000025907Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR019460  Autophagy-related protein 11


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000045 autophagosome assembly IBA
 biological_processGO:0000422 autophagy of mitochondrion IBA
 biological_processGO:0001889 liver development IEA
 biological_processGO:0001934 positive regulation of protein phosphorylation IBA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006914 autophagy ISS
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007507 heart development IEA
 biological_processGO:0016236 macroautophagy TAS
 biological_processGO:0016241 regulation of macroautophagy TAS
 biological_processGO:0030242 autophagy of peroxisome IBA
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0045793 positive regulation of cell size IEA
 biological_processGO:0046330 positive regulation of JNK cascade IEA
 biological_processGO:0061709 reticulophagy IBA
 biological_processGO:0061723 glycophagy IBA
 biological_processGO:2001237 negative regulation of extrinsic apoptotic signaling pathway IEA
 cellular_componentGO:0000407 phagophore assembly site IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0031965 nuclear membrane IDA
 cellular_componentGO:0034045 phagophore assembly site membrane IBA
 cellular_componentGO:1990316 Atg1/ULK1 kinase complex IPI
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019901 protein kinase binding IBA
 molecular_functionGO:0032947 protein-containing complex scaffold activity IBA


Pathways (from Reactome)
Pathway description
Macroautophagy


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 HP:0001425 Heterogeneous 
Show

 HP:0003002 Breast cancer 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000111725 PRKAB1 / Q9Y478 / protein kinase AMP-activated non-catalytic subunit beta 1  / complex / reaction
 ENSG00000126775 ATG14 / Q6ZNE5 / autophagy related 14  / reaction
 ENSG00000131791 O43741 / PRKAB2 / protein kinase AMP-activated non-catalytic subunit beta 2  / complex / reaction
 ENSG00000088986 DYNLL1 / P63167 / dynein light chain LC8-type 1  / reaction
 ENSG00000115592 PRKAG3 / Q9UGI9 / protein kinase AMP-activated non-catalytic subunit gamma 3  / complex / reaction
 ENSG00000083750 RRAGB / Q5VZM2 / Ras related GTP binding B  / complex / reaction
 ENSG00000106615 RHEB / Q15382 / Ras homolog, mTORC1 binding  / complex / reaction
 ENSG00000078142 PIK3C3 / Q8NEB9 / phosphatidylinositol 3-kinase catalytic subunit type 3  / reaction
 ENSG00000167965 MLST8 / Q9BVC4 / MTOR associated protein, LST8 homolog  / complex / reaction
 ENSG00000106617 PRKAG2 / Q9UGJ0 / protein kinase AMP-activated non-catalytic subunit gamma 2  / complex / reaction
 ENSG00000141564 RPTOR / Q8N122 / regulatory associated protein of MTOR complex 1  / complex / reaction
 ENSG00000132356 PRKAA1 / Q13131 / protein kinase AMP-activated catalytic subunit alpha 1  / complex / reaction
 ENSG00000181929 P54619 / PRKAG1 / protein kinase AMP-activated non-catalytic subunit gamma 1  / complex / reaction
 ENSG00000123395 ATG101 / Q9BSB4 / autophagy related 101  / complex
 ENSG00000177169 ULK1 / O75385 / unc-51 like autophagy activating kinase 1  / complex
 ENSG00000177058 Q8NBW4 / SLC38A9 / solute carrier family 38 member 9  / complex / reaction
 ENSG00000110497 AMBRA1 / Q9C0C7 / autophagy and beclin 1 regulator 1  / reaction
 ENSG00000175224 ATG13 / O75143 / autophagy related 13  / complex
 ENSG00000126581 BECN1 / Q14457 / beclin 1  / reaction
 ENSG00000198793 MTOR / P42345 / mechanistic target of rapamycin kinase  / complex / reaction
 ENSG00000196455 PIK3R4 / Q99570 / phosphoinositide-3-kinase regulatory subunit 4  / reaction
 ENSG00000025039 RRAGD / Q9NQL2 / Ras related GTP binding D  / complex / reaction
 ENSG00000116954 RRAGC / Q9HB90 / Ras related GTP binding C  / complex / reaction
 ENSG00000162409 P54646 / PRKAA2 / protein kinase AMP-activated catalytic subunit alpha 2  / complex / reaction
 ENSG00000155876 RRAGA / Q7L523 / Ras related GTP binding A  / complex / reaction
 ENSG00000264364 DYNLL2 / Q96FJ2 / dynein light chain LC8-type 2  / reaction






 

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