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RB1CC1 Gene

protein-coding   GIFtS: 61
GCID: GC08M053584

RB1-Inducible Coiled-Coil 1

  See RB1CC1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
RB1-Inducible Coiled-Coil 11 2     KIAA02033 5
200 KDa FAK Family Kinase-Interacting Protein1 2     ATG172
FIP2002 3     RB1-Inducible Coiled-Coil Protein 12
FAK Family Kinase-Interacting Protein Of 200 KDa2 3     RBICC3
CC12 5     

External Ids:    HGNC: 155741   Entrez Gene: 98212   Ensembl: ENSG000000232877   OMIM: 6068375   UniProtKB: Q8TDY23   

Export aliases for RB1CC1 gene to outside databases

Previous GC identifers: GC08M052817 GC08M053540 GC08M053258 GC08M053697 GC08M049002


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, somatic, and retinoblastoma. GO annotations related to this gene include protein kinase binding.

UniProtKB/Swiss-Prot: RBCC1_HUMAN, Q8TDY2
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 Wiki entry for RB1CC1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NT_008183.20  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RB1CC1 gene promoter:
         C/EBPbeta   Elk-1   AML1a   AP-1   ATF-2   Evi-1   c-Jun   ZID   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RB1CC1 promoter sequence
   Search Chromatin IP Primers for RB1CC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RB1CC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q11   Ensembl cytogenetic band:  8q11.23   HGNC cytogenetic band: 8q11

RB1CC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RB1CC1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M053584:  view genomic region     (about GC identifiers)

Start:
53,535,016 bp from pter      End:
53,658,403 bp from pter
Size:
123,388 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RBCC1_HUMAN, Q8TDY2 (See protein sequence)
Recommended Name: RB1-inducible coiled-coil protein 1  
Size: 1594 amino acids; 183091 Da
Subunit: 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
Developmental stage: Expression was difficult to detect in immature proliferating chondroblasts or myogenic cells
in embryos, but became obvious and prominent concomitantly with the maturation of osteocytes, chondrocytes, and
skeletal muscle cells. Expression in these musculoskeletal cells increased with RB1 expression, which is linked
to the terminal differentiation of many tissues and cells. The introduction of the wild-type protein decreased
the formation of macroscopic colonies in a cell growth assay
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
Sequence caution: Sequence=BAA13194.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q86YR4 Q8WVU9 Q92601
Alternative splicing: 2 isoforms:  Q8TDY2-1   Q8TDY2-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RB1CC1: NX_Q8TDY2

Explore proteomics data for RB1CC1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RB1CC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001077086.1  NP_055596.3  

    ENSEMBL proteins: 
     ENSP00000025008   ENSP00000396067   ENSP00000430809   ENSP00000430792   ENSP00000429879  
     ENSP00000429918   ENSP00000429115   ENSP00000429611   ENSP00000445960  

    RB1CC1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for RB1CC1

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR019460 Autophagy-rel_p11

    Graphical View of Domain Structure for InterPro Entry Q8TDY2

    ProtoNet protein and cluster: Q8TDY2

    1 Blocks protein domain: IPB000626 Ubiquitin domain

    UniProtKB/Swiss-Prot: RBCC1_HUMAN, Q8TDY2
    Similarity: Belongs to the ATG17 family


    Find genes that share domains with RB1CC1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RBCC1_HUMAN, Q8TDY2
    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): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19211835
    GO:0019901protein kinase binding IEA--
         
    Find genes that share ontologies with RB1CC1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for RB1CC1:
     Increased gamma-H2AX phosphory  Synthetic lethal with c-Myc af 

         11 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Rb1cc1):
     cardiovascular system  cellular  hematopoietic system  homeostasis/metabolism  immune system 
     integument  liver/biliary system  mortality/aging  muscle  no phenotypic analysis 
     normal 

    Find genes that share phenotypes with RB1CC1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for RB1CC1: Rb1cc1tm1.3Guan Rb1cc1tm1.2Guan

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RB1CC1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RB1CC1

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    Block miRNA regulation of human, mouse, rat RB1CC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RB1CC1 (see all 45):
    hsa-miR-142-5p hsa-miR-607 hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-938 hsa-miR-105
    SwitchGear 3'UTR luciferase reporter plasmidRB1CC1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RB1CC1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RBCC1_HUMAN, Q8TDY2: 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 (By
    similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus5
    lysosome2
    vacuole2
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000407pre-autophagosomal structure ----
    GO:0005634nucleus ----
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol IEA--
    GO:0031965nuclear membrane IDA--

    Find genes that share ontologies with RB1CC1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RB1CC1 About    
    See pathways by source

    SuperPathContained pathways About
    1GPCR Pathway
    Breast Cancer Regulation by Stathmin10.58
    2Senescence and Autophagy
    Senescence and Autophagy
    3mTOR signaling pathway
    mTOR signaling pathway
    4Integrated Pancreatic Cancer Pathway
    Integrated Pancreatic Cancer Pathway

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for RB1CC1
        Breast Cancer Regulation by Stathmin1

    3 BioSystems Pathways for RB1CC1
        Senescence and Autophagy
    Integrated Pancreatic Cancer Pathway
    mTOR signaling pathway


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RB1CC1
    Interactions:

        GeneGlobe Interaction Network for RB1CC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RB1CC1 (Q8TDY21, 2, 3 ENSP000000250084) via UniProtKB, MINT, STRING, and/or I2D (see all 275)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATG16L1Q676U51, 2, 3, ENSP000003758724EBI-1047793,EBI-535909 MINT-8430634 MINT-8431568 MINT-8430695 MINT-8430779 MINT-8430758 MINT-8430743 MINT-8430728 I2D: score=3 STRING: ENSP00000375872
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    ENSG00000231555P081073I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000045autophagic vacuole assembly IEA--
    GO:0001889liver development IEA--
    GO:0001934positive regulation of protein phosphorylation IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--

    Find genes that share ontologies with RB1CC1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RB1CC1 (RBCC1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RB1CC1 gene (2 alternative transcripts): 
    NM_001083617.1  NM_014781.4  

    Unigene Cluster for RB1CC1:

    RB1-inducible coiled-coil 1
    Hs.196102  [show with all ESTs]
    Unigene Representative Sequence: NM_014781
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000025008(uc003xre.4 uc003xrf.4) ENST00000435644 ENST00000521611
    ENST00000519912 ENST00000522957 ENST00000523594 ENST00000518710 ENST00000517963
    ENST00000518211 ENST00000518468 ENST00000539297
    miRNA
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    hsa-miR-142-5p hsa-miR-607 hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-938 hsa-miR-105
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    Addgene plasmids for RB1CC1 
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      QuantiFast Probe-based Assays in human, mouse, rat RB1CC1

    Additional mRNA sequence: 

    AB059622.1 AK095971.1 AK291699.1 AK294579.1 AK307436.1 AY173931.1 BC017556.1 BC032074.1 
    D86958.1 Z35085.1 

    16 DOTS entries:

    DT.456236  DT.100683921  DT.75166221  DT.91834114  DT.95293439  DT.426729  DT.92011885  DT.95293447 
    DT.95293450  DT.102842939  DT.120649475  DT.91745872  DT.92454309  DT.95293414  DT.95293416  DT.91738016 

    Selected AceView cDNA sequences (see all 289):

    BU507512 AA131779 AU138642 D86958 BC017556 AL044233 BX282671 AW192739 
    Z40222 BU181360 R22753 AA131766 NM_014781 W60007 T40715 N86360 
    N77304 AI249264 Z44265 F08823 CA424476 AW949903 BC032074 BG390116 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RB1CC1 (see all 8)    About this scheme

    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:                                                                                                                                                            

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


    ECgene alternative splicing isoforms for RB1CC1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    RB1CC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTGAGTTTC
    RB1CC1 Expression
    About this image

    RB1CC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RB1CC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.196102

    UniProtKB/Swiss-Prot: RBCC1_HUMAN, Q8TDY2
    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

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for RB1CC1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rb1cc11 , 5 RB1-inducible coiled-coil 11, 5 88.64(n)1
    89.55(a)1
      1 (1.89 cM)5
    124211  NM_009826.41  NP_033956.21 
     62061975 
    chicken
    (Gallus gallus)
    Aves RB1CC11 RB1-inducible coiled-coil 1 78.69(n)
    80.08(a)
      421116  XM_004939855.1  XP_004939912.1 
    lizard
    (Anolis carolinensis)
    Reptilia RB1CC16
    RB1-inducible coiled-coil 1
    72(a)
    1 ↔ 1
    GL343244.1(1566840-1627202)
    African clawed frog
    (Xenopus laevis)
    Amphibia BU912651.12   -- 77.85(n)    BU912651.1 
    zebrafish
    (Danio rerio)
    Actinopterygii RB1CC16
    RB1-inducible coiled-coil 1
    60(a)
    1 ↔ 1
    24(36465500-36498195) ENSDARG00000076559
    fruit fly
    (Drosophila melanogaster)
    Insecta CG13473   -- 40(a)   83B9   --
    worm
    (Caenorhabditis elegans)
    Secernentea atg-116
    Protein ATG-11 (atg-11) mRNA, complete cds
    21(a)
    1 ↔ 1
    X(7334714-7340189) WBGene00020334


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RB1CC1 gene

    Find genes that share paralogs with RB1CC1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for RB1CC1
    PGOHUM00000235705


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RB1CC1 (see all 1856)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0330314
    A breast cancer sample4--see VAR_0330312 R C mis40--------
    rs58914751,2
    C--53535764(+) TTTTT-/TGAAAC 2 -- ut31 trp30--------
    rs113051941,2
    C--53539376(+) GTCAT-/GGGGAA 2 -- int12Minor allele frequency- G:0.00NA CSA 4
    rs1117905311,2
    C,F--53550432(+) CACCAC/TGTTGG 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs339125261,2
    C--53553945(+) AAAAA-/ATTAAA 2 -- int12Minor allele frequency- A:0.25NA 4
    rs586899891,2
    C--53565039(+) AAAAA-/A/    
       AAAAA
    GTCTT
    2 -- int11NA 2
    rs1126753831,2
    C,F--53570998(+) AGGGCG/ATGGTG 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs1119629091,2
    C,F--53593684(+) GCAGCC/TGGGAC 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs3774991131,2
    --53596087(+) CAGTT-/AAAATAA 2 -- int10--------
    rs723335821,2
    C--53597563(+) TGACC-/T/TT  
            
    TTTTT
    2 -- int10--------

    HapMap Linkage Disequilibrium report for RB1CC1 (53535016 - 53658403 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for RB1CC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2736998CNV Deletion23290073
    nsv831318CNV Loss17160897
    nsv890902CNV Gain21882294
    dgv7795n71CNV Gain21882294
    nsv890908CNV Gain21882294

    Human Gene Mutation Database (HGMD): RB1CC1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RB1CC1
    DNA2.0 Custom Variant and Variant Library Synthesis for RB1CC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606837   
    OMIM disorders: 114480  
    3 diseases for RB1CC1:    
    About MalaCards
    breast cancer, somatic    retinoblastoma    ovarian cancer


    Find genes that share disorders with RB1CC1           About GenesLikeMe

    1 Novoseek inferred disease relationship for RB1CC1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoblastoma 55.6 3 15375585 (1), 19437535 (1), 12163359 (1)

    Genetic Association Database (GAD): RB1CC1
    Human Genome Epidemiology (HuGE) Navigator: RB1CC1 (5 documents)

    Export disorders for RB1CC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RB1CC1 gene, integrated from 10 sources (see all 71):
    (articles sorted by number of sources associating them with RB1CC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of RB1CC1, a novel human gene that can induce RB1 in various human cells. (PubMed id 11850849)1, 2, 3 Chano T.... Saeki Y. (Oncogene 2002)
    2. Preferential expression of RB1-inducible coiled-coil 1 in terminal differentiated musculoskeletal cells. (PubMed id 12163359)1, 2, 9 Chano T.... Okabe H. (Am. J. Pathol. 2002)
    3. The COP1 E3-ligase interacts with FIP200, a key regulator of mammalian autophagy. (PubMed id 23289756)1, 2 Kobayashi S.... Kato J.Y. (BMC Biochem. 2013)
    4. Interaction between FIP200 and ATG16L1 distinguishes ULK1 complex- dependent and -independent autophagy. (PubMed id 23262492)1, 2 Gammoh N.... Jiang X. (Nat. Struct. Mol. Biol. 2013)
    5. ATG8 family proteins act as scaffolds for assembly of the ULK complex: sequence requirements for LC3-interacting region (LIR) motifs. (PubMed id 23043107)1, 2 Alemu E.A.... Johansen T. (J. Biol. Chem. 2012)
    6. p53 inhibits autophagy by interacting with the human ortholog of yeast Atg17, RB1CC1/FIP200. (PubMed id 21775823)1, 2 Morselli E....Kroemer G. (Cell Cycle 2011)
    7. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (Carcinogenesis 2010)
    8. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    9. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (Respir Med 2009)
    10. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PubMed id 19170196)1, 4 Shen M....Lan Q. (Environ. Mol. Mutagen. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9821 HGNC: 15574 AceView: RB1CC1 Ensembl:ENSG00000023287 euGenes: HUgn9821
    ECgene: RB1CC1 H-InvDB: RB1CC1

    (According to HUGE)
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    HUGE: KIAA0203

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RB1CC1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RB1CC1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RB1CC1 gene:
    Search GeneIP for patents involving RB1CC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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