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Aliases for RB1CC1 Gene

Aliases for RB1CC1 Gene

  • RB1-Inducible Coiled-Coil 1 2 3
  • FAK Family Kinase-Interacting Protein Of 200 KDa 3 4
  • 200 KDa FAK Family Kinase-Interacting Protein 2 3
  • FIP200 3 4
  • Phosphatase 1, Regulatory Subunit 131 3
  • Regulatory Subunit 131 2
  • Phosphatase 1 2
  • 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 GPCR Pathway and Integrated Pancreatic Cancer Pathway. GO annotations related to this gene include protein kinase binding.

UniProtKB/Swiss-Prot for RB1CC1 Gene

  • Plays a role as a modulator of TGF-beta-signaling by restricting substrate specificity of RNF111. Involved in autophagy. Regulates early events but also late events of autophagosome formation through direct interaction with Atg16L1. Required for the formation of the autophagosome-like double-membrane structure that surrounds the Salmonella-containing vacuole (SCV) duting S.typhimurium infection and subsequent xenophagy. Autophagy positively regulates repair of DNA damage induced by ionizing radiation and negatively regulates apoptosis. Plays an indispensible role in fetal hematopoiesis and in the regulation of neuronal homeostasis (By similarity). Implicated in the regulation of RB1 expression. Functions as a DNA-binding transcription factor. Is a potent regulator of the RB1 pathway and a mediator that plays a crucial role in muscular differentiation. Expression is, thus, a prerequisite for myogenic differentiation. Inhibits PTK2/FAK1 and PTK2B/PYK2 activity and activation of downstream signaling pathways.

Gene Wiki entry for RB1CC1 Gene

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

Genomics for RB1CC1 Gene

Regulatory Elements for RB1CC1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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. This complex associates with ATG101. Interacts with PTK2/FAK1 and PTK2B/PYK2. Interactcs with ATG16L1, GABARAP and GABARAPL1. Interacts with RFWD2 in the cytoplasm of proliferating cells in response to UV stimulation.
    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

Proteomics data for RB1CC1 Gene at MOPED

Post-translational modifications for RB1CC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RB1CC1 (RB1CC1)

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:
Plays a role as a modulator of TGF-beta-signaling by restricting substrate specificity of RNF111. Involved in autophagy. Regulates early events but also late events of autophagosome formation through direct interaction with Atg16L1. Required for the formation of the autophagosome-like double-membrane structure that surrounds the Salmonella-containing vacuole (SCV) duting S.typhimurium infection and subsequent xenophagy. Autophagy positively regulates repair of DNA damage induced by ionizing radiation and negatively regulates apoptosis. Plays an indispensible role in fetal hematopoiesis and in the regulation of neuronal homeostasis (By similarity). Implicated in the regulation of RB1 expression. Functions as a DNA-binding transcription factor. Is a potent regulator of the RB1 pathway and a mediator that plays a crucial role in muscular differentiation. Expression is, thus, a prerequisite for myogenic differentiation. Inhibits PTK2/FAK1 and PTK2B/PYK2 activity and activation of downstream signaling pathways.

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 --
genes like me logo Genes that share ontologies with RB1CC1: view
genes like me logo Genes that share phenotypes with RB1CC1: view

Animal Models for RB1CC1 Gene

MGI Knock Outs for RB1CC1:

Animal Model Products

miRNA for RB1CC1 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RB1CC1

In Situ Assay Products

Flow Cytometry 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, cytosol. Preautophagosomal structure membrane; Peripheral membrane protein. 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}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RB1CC1 Gene COMPARTMENTS Subcellular localization image for RB1CC1 gene
Compartment Confidence
cytosol 5
nucleus 5
lysosome 2
vacuole 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for RB1CC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000407 pre-autophagosomal structure --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0031965 nuclear membrane IDA --
GO:0034045 pre-autophagosomal structure membrane ISS --
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 Reactome pathways 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:0001889 liver development IEA --
GO:0001934 positive regulation of protein phosphorylation IBA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of 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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RB1CC1

Flow Cytometry 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 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, MOPED, and MaxQB for RB1CC1 Gene



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.
genes like me logo Genes that share expression patterns with RB1CC1: view

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia RB1CC1 35
  • 83.62 (n)
  • 88.29 (a)
RB1CC1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RB1CC1 35
  • 93.95 (n)
  • 95.42 (a)
RB1CC1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rb1cc1 35
  • 88.64 (n)
  • 89.55 (a)
Rb1cc1 16
Rb1cc1 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RB1CC1 35
  • 99.67 (n)
  • 99.56 (a)
RB1CC1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rb1cc1 35
  • 88.39 (n)
  • 89.8 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 92 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia RB1CC1 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves RB1CC1 35
  • 78.69 (n)
  • 80.08 (a)
RB1CC1 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RB1CC1 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rb1cc1 35
  • 70.81 (n)
  • 68.43 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10313 35
zebrafish
(Danio rerio)
Actinopterygii RB1CC1 36
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1347 37
  • 40 (a)
CG1347 36
  • 23 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea atg-11 36
  • 21 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPC110 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToOne
Species with no ortholog for RB1CC1:
  • 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 MAF
rs2107 -- 52,644,775(-) TTTGT(A/G)GAATT intron-variant
rs2108 -- 52,644,666(-) GGGAA(A/G)AGGGA intron-variant
rs14740 -- 52,623,066(-) TCAAA(A/C)CTTCC utr-variant-3-prime
rs734137 -- 52,654,473(-) AAATG(C/G)ATAGT intron-variant
rs896634 -- 52,654,621(-) AGAGC(C/G)CTTTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv890902 CNV Gain 21882294
dgv7795n71 CNV Gain 21882294
nsv831318 CNV Loss 17160897
nsv890908 CNV Gain 21882294
esv2736998 CNV Deletion 23290073

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

HapMap Linkage Disequilibrium report
RB1CC1
Human Gene Mutation Database (HGMD)
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

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. The population structure of Staphylococcus aureus among general practice patients from The Netherlands. (PMID: 19178545) Donker G.A. … Stobberingh E.E. (Clin. Microbiol. Infect. 2009) 23 67
  2. RB1CC1 activates the promoter and expression of RB1 in human cancer. (PMID: 19437535) Ikebuchi K. … Okabe H. (Int. J. Cancer 2009) 23 67
  3. Screening for microsatellite instability identifies frequent 3'-untranslated region mutation of the RB1-inducible coiled-coil 1 gene in colon tumors. (PMID: 19888451) Paun B.C. … Mori Y. (PLoS ONE 2009) 23 67
  4. FIP200, a ULK-interacting protein, is required for autophagosome formation in mammalian cells. (PMID: 18443221) Hara T. … Mizushima N. (J. Cell Biol. 2008) 2 67
  5. RB1CC1 insufficiency causes neuronal atrophy through mTOR signaling alteration and involved in the pathology of Alzheimer's diseases. (PMID: 17706618) Chano T. … Hulette C.M. (Brain Res. 2007) 23 67

Products for RB1CC1 Gene

Sources for RB1CC1 Gene

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