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Aliases for RB1CC1 Gene

Aliases for RB1CC1 Gene

  • RB1 Inducible Coiled-Coil 1 2 3 5
  • FAK Family Kinase-Interacting Protein Of 200 KDa 3 4
  • 200 KDa FAK Family Kinase-Interacting Protein 2 3
  • Phosphatase 1, Regulatory Subunit 131 2 3
  • FIP200 3 4
  • RB1-Inducible Coiled-Coil Protein 1 3
  • PPP1R131 3
  • KIAA0203 4
  • ATG17 3
  • RBICC 4
  • CC1 3

External Ids for RB1CC1 Gene

Previous GeneCards Identifiers for RB1CC1 Gene

  • GC08M052817
  • GC08M053540
  • GC08M053258
  • GC08M053584
  • GC08M053697
  • GC08M049002

Summaries for RB1CC1 Gene

Entrez Gene Summary for RB1CC1 Gene

  • The protein encoded by this gene interacts with signaling pathways to coordinately regulate cell growth, cell proliferation, apoptosis, autophagy, and cell migration. This tumor suppressor also enhances retinoblastoma 1 gene expression in cancer cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]

GeneCards Summary for RB1CC1 Gene

RB1CC1 (RB1 Inducible Coiled-Coil 1) is a Protein Coding gene. Diseases associated with RB1CC1 include Breast Cancer. Among its related pathways are PI3K-AKT-mTOR signaling pathway and therapeutic opportunities and mTOR signaling pathway (Pathway Interaction Database). GO annotations related to this gene include protein kinase binding.

UniProtKB/Swiss-Prot for RB1CC1 Gene

  • Involved in autophagy (PubMed:21775823). Regulates early events but also late events of autophagosome formation through direct interaction with Atg16L1 (PubMed:23392225). Required for the formation of the autophagosome-like double-membrane structure that surrounds the Salmonella-containing vacuole (SCV) during S.typhimurium infection and subsequent xenophagy (By similarity). Involved in repair of DNA damage caused by ionizing radiation, which subsequently improves cell survival by decreasing apoptosis (By similarity). Inhibits PTK2/FAK1 and PTK2B/PYK2 kinase activity, affecting their downstream signaling pathways (PubMed:10769033, PubMed:12221124). Plays a role as a modulator of TGF-beta-signaling by restricting substrate specificity of RNF111 (By similarity). Functions as a DNA-binding transcription factor (PubMed:12095676). Is a potent regulator of the RB1 pathway through induction of RB1 expression (PubMed:14533007). Plays a crucial role in muscular differentiation (PubMed:12163359). Plays an indispensable role in fetal hematopoiesis and in the regulation of neuronal homeostasis (By similarity).

Gene Wiki entry for RB1CC1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RB1CC1 Gene

Genomics for RB1CC1 Gene

Regulatory Elements for RB1CC1 Gene

Enhancers for RB1CC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G052712 1.5 FANTOM5 ENCODE 13.4 +31.6 31623 3.5 HDGF HNRNPUL1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF766 RB1CC1 LOC105375835 ALKAL1
GH08G052693 1.6 FANTOM5 Ensembl ENCODE 8 +50.7 50696 2.7 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 FOS RB1CC1 ST18 NPBWR1 LOC105375835 ALKAL1
GH08G052466 1.5 FANTOM5 Ensembl ENCODE 2.6 +278.5 278504 1.5 PKNOX1 FOXA2 ZFP64 SIN3A BRCA1 GLIS2 GATA2 FOS SMARCB1 MBD2 ST18 ALKAL1 RB1CC1 GC08M052509
GH08G052628 0.8 ENCODE 4.8 +116.4 116381 1.6 PKNOX1 FOXA2 NFIB YY1 GATA4 RCOR1 ZEB2 PPARG NR2F2 ZNF217 RB1CC1 ALKAL1 LOC105375835
GH08G052459 0.3 FANTOM5 3.2 +286.0 286040 0.1 RB1CC1 ST18 GC08M052343
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RB1CC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for RB1CC1 Gene

Chromosome:
8
Start:
52,622,456 bp from pter
End:
52,745,843 bp from pter
Size:
123,388 bases
Orientation:
Minus strand

Genomic View for RB1CC1 Gene

Genes around RB1CC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RB1CC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RB1CC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RB1CC1 Gene

Proteins for RB1CC1 Gene

  • Protein details for RB1CC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDY2-RBCC1_HUMAN
    Recommended name:
    RB1-inducible coiled-coil protein 1
    Protein Accession:
    Q8TDY2
    Secondary Accessions:
    • Q86YR4
    • Q8WVU9
    • Q92601

    Protein attributes for RB1CC1 Gene

    Size:
    1594 amino acids
    Molecular mass:
    183091 Da
    Quaternary structure:
    • Part of a complex consisting of ATG13/KIAA0652, ULK1 and RB1CC1 (PubMed:19597335, PubMed:19211835). This complex associates with ATG101 (PubMed:19597335, PubMed:19211835). Interacts with PTK2/FAK1 and PTK2B/PYK2 (PubMed:10769033, PubMed:12221124). Interacts with GABARAP and GABARAPL1 (PubMed:23043107). Interacts with ATG16L1; the interaction is required for ULK1 complex-dependent autophagy (PubMed:24954904, PubMed:23262492, PubMed:23392225). Interacts with RNF111, SKI and SMAD7 (By similarity). Interacts with RFWD2 in the cytoplasm of proliferating cells in response to UV stimulation (PubMed:23289756). Interacts with TP53 (PubMed:21775823).
    Miscellaneous:
    • Probably involved in the tumorigenesis of breast cancer. RB1CC1 is frequently mutated in breast cancer and shows characteristics of a classical tumor suppressor gene.
    SequenceCaution:
    • Sequence=BAA13194.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for RB1CC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RB1CC1 Gene

Post-translational modifications for RB1CC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RB1CC1 Gene

Domains & Families for RB1CC1 Gene

Protein Domains for RB1CC1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RB1CC1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8TDY2

UniProtKB/Swiss-Prot:

RBCC1_HUMAN :
  • Belongs to the ATG17 family.
Family:
  • Belongs to the ATG17 family.
genes like me logo Genes that share domains with RB1CC1: view

Function for RB1CC1 Gene

Molecular function for RB1CC1 Gene

UniProtKB/Swiss-Prot Function:
Involved in autophagy (PubMed:21775823). Regulates early events but also late events of autophagosome formation through direct interaction with Atg16L1 (PubMed:23392225). Required for the formation of the autophagosome-like double-membrane structure that surrounds the Salmonella-containing vacuole (SCV) during S.typhimurium infection and subsequent xenophagy (By similarity). Involved in repair of DNA damage caused by ionizing radiation, which subsequently improves cell survival by decreasing apoptosis (By similarity). Inhibits PTK2/FAK1 and PTK2B/PYK2 kinase activity, affecting their downstream signaling pathways (PubMed:10769033, PubMed:12221124). Plays a role as a modulator of TGF-beta-signaling by restricting substrate specificity of RNF111 (By similarity). Functions as a DNA-binding transcription factor (PubMed:12095676). Is a potent regulator of the RB1 pathway through induction of RB1 expression (PubMed:14533007). Plays a crucial role in muscular differentiation (PubMed:12163359). Plays an indispensable role in fetal hematopoiesis and in the regulation of neuronal homeostasis (By similarity).

Gene Ontology (GO) - Molecular Function for RB1CC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19211835
GO:0019901 protein kinase binding IBA --
GO:0032947 protein complex scaffold IBA --
genes like me logo Genes that share ontologies with RB1CC1: view
genes like me logo Genes that share phenotypes with RB1CC1: view

Human Phenotype Ontology for RB1CC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RB1CC1 Gene

MGI Knock Outs for RB1CC1:

Animal Model Products

CRISPR Products

miRNA for RB1CC1 Gene

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RB1CC1 Gene

Localization for RB1CC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RB1CC1 Gene

Nucleus. Cytoplasm. Cytoplasm, cytosol. Preautophagosomal structure. Note=Under starvation conditions, is localized to puncate structures primarily representing the isolation membrane that sequesters a portion of the cytoplasm resulting in the formation of an autophagosome. {ECO:0000250 UniProtKB:Q9ESK9}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RB1CC1 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
cytosol 5
lysosome 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for RB1CC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000407 pre-autophagosomal structure IEA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RB1CC1: view

Pathways & Interactions for RB1CC1 Gene

genes like me logo Genes that share pathways with RB1CC1: view

Pathways by source for RB1CC1 Gene

2 KEGG pathways for RB1CC1 Gene
1 R&D Systems pathway for RB1CC1 Gene
1 Qiagen pathway for RB1CC1 Gene

SIGNOR curated interactions for RB1CC1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for RB1CC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagosome assembly IBA --
GO:0000422 mitophagy IBA --
GO:0001889 liver development IEA --
GO:0001934 positive regulation of protein phosphorylation IBA --
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with RB1CC1: view

Drugs & Compounds for RB1CC1 Gene

No Compound Related Data Available

Transcripts for RB1CC1 Gene

Unigene Clusters for RB1CC1 Gene

RB1-inducible coiled-coil 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RB1CC1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1: - -
SP2: - -
SP3:
SP4: -
SP5:
SP6:
SP7: - - - -
SP8: - - -

ExUns: 21 ^ 22 ^ 23a · 23b · 23c ^ 24 ^ 25a · 25b
SP1:
SP2: -
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for RB1CC1 Gene

GeneLoc Exon Structure for
RB1CC1
ECgene alternative splicing isoforms for
RB1CC1

Expression for RB1CC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RB1CC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RB1CC1 Gene

This gene is overexpressed in Fetal Brain (15.2), Plasma (10.2), Spleen (8.0), Skin (7.1), and Ovary (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RB1CC1 Gene



NURSA nuclear receptor signaling pathways regulating expression of RB1CC1 Gene:

RB1CC1

SOURCE GeneReport for Unigene cluster for RB1CC1 Gene:

Hs.196102

mRNA Expression by UniProt/SwissProt for RB1CC1 Gene:

Q8TDY2-RBCC1_HUMAN
Tissue specificity: Expression levels correlated closely with those of RB1 in cancer cell lines as well as in various normal human tissues. Abundantly expressed in human musculoskeletal and cultured osteosarcoma cells.

Evidence on tissue expression from TISSUES for RB1CC1 Gene

  • Nervous system(4.4)
  • Liver(4.3)
  • Spleen(4.3)
  • Blood(4.2)
  • Lymph node(4.2)
  • Muscle(2.1)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RB1CC1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • reproductive
  • skeletal muscle
Organs:
Thorax:
  • breast
genes like me logo Genes that share expression patterns with RB1CC1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for RB1CC1 Gene

Orthologs for RB1CC1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RB1CC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RB1CC1 34 35
  • 99.67 (n)
dog
(Canis familiaris)
Mammalia RB1CC1 34 35
  • 93.95 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 92 (a)
OneToMany
-- 35
  • 87 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Rb1cc1 34 16 35
  • 88.64 (n)
rat
(Rattus norvegicus)
Mammalia Rb1cc1 34
  • 88.39 (n)
cow
(Bos Taurus)
Mammalia RB1CC1 34 35
  • 83.62 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RB1CC1 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves RB1CC1 34 35
  • 78.69 (n)
lizard
(Anolis carolinensis)
Reptilia RB1CC1 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rb1cc1 34
  • 70.81 (n)
zebrafish
(Danio rerio)
Actinopterygii RB1CC1 35
  • 60 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10313 34
fruit fly
(Drosophila melanogaster)
Insecta CG1347 36 35
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea atg-11 35
  • 21 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPC110 37
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 36 (a)
OneToOne
Species where no ortholog for RB1CC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RB1CC1 Gene

ENSEMBL:
Gene Tree for RB1CC1 (if available)
TreeFam:
Gene Tree for RB1CC1 (if available)

Paralogs for RB1CC1 Gene

Pseudogenes.org Pseudogenes for RB1CC1 Gene

genes like me logo Genes that share paralogs with RB1CC1: view

No data available for Paralogs for RB1CC1 Gene

Variants for RB1CC1 Gene

Sequence variations from dbSNP and Humsavar for RB1CC1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs113117391 A breast cancer sample 52,628,128(+) ATGGC(A/G)TTCGT reference, missense
rs1000003689 -- 52,629,915(+) AAGTT(C/T)CCCCC intron-variant
rs1000018332 -- 52,663,189(+) GCACT(A/G)TAGTA intron-variant
rs1000046055 -- 52,667,549(+) TTAGC(A/C)ATTCC intron-variant
rs1000075312 -- 52,669,724(+) ATGCA(A/C)ATCAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RB1CC1 Gene

Variant ID Type Subtype PubMed ID
dgv7218n100 CNV gain 25217958
dgv7220n100 CNV gain 25217958
esv2736998 CNV deletion 23290073
esv2761192 CNV gain 21179565
esv2764065 CNV gain 21179565
esv3576572 CNV gain 25503493
esv3617214 CNV gain 21293372
esv3617217 CNV gain 21293372
esv3891395 CNV gain 25118596
esv3891396 CNV gain 25118596
nsv477167 CNV novel sequence insertion 20440878
nsv611355 CNV gain 21841781
nsv831318 CNV loss 17160897

Variation tolerance for RB1CC1 Gene

Residual Variation Intolerance Score: 1.69% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.31; 53.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RB1CC1 Gene

Human Gene Mutation Database (HGMD)
RB1CC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RB1CC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RB1CC1 Gene

Disorders for RB1CC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RB1CC1 Gene - From: OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
breast cancer
  • breast cancer, invasive ductal
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for RB1CC1

Genetic Association Database (GAD)
RB1CC1
Human Genome Epidemiology (HuGE) Navigator
RB1CC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RB1CC1
genes like me logo Genes that share disorders with RB1CC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RB1CC1 Gene

Publications for RB1CC1 Gene

  1. Identification of RB1CC1, a novel human gene that can induce RB1 in various human cells. (PMID: 11850849) Chano T. … Saeki Y. (Oncogene 2002) 2 3 4 64
  2. Preferential expression of RB1-inducible coiled-coil 1 in terminal differentiated musculoskeletal cells. (PMID: 12163359) Chano T. … Okabe H. (Am. J. Pathol. 2002) 3 4 22 64
  3. WIPI2 links LC3 conjugation with PI3P, autophagosome formation, and pathogen clearance by recruiting Atg12-5-16L1. (PMID: 24954904) Dooley H.C. … Tooze S.A. (Mol. Cell 2014) 3 4 64
  4. Interaction between FIP200 and ATG16L1 distinguishes ULK1 complex- dependent and -independent autophagy. (PMID: 23262492) Gammoh N. … Jiang X. (Nat. Struct. Mol. Biol. 2013) 3 4 64
  5. The COP1 E3-ligase interacts with FIP200, a key regulator of mammalian autophagy. (PMID: 23289756) Kobayashi S. … Kato J.Y. (BMC Biochem. 2013) 3 4 64

Products for RB1CC1 Gene

Sources for RB1CC1 Gene

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