Human Gene RB1CC1 (ENST00000025008.10_12) from GENCODE V47lift37
  Description: RB1 inducible coiled-coil 1, transcript variant 1 (from RefSeq NM_014781.5)
Gencode Transcript: ENST00000025008.10_12
Gencode Gene: ENSG00000023287.13_17
Transcript (Including UTRs)
   Position: hg19 chr8:53,535,018-53,626,995 Size: 91,978 Total Exon Count: 24 Strand: -
Coding Region
   Position: hg19 chr8:53,536,342-53,598,029 Size: 61,688 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:53,535,018-53,626,995)mRNA (may differ from genome)Protein (1594 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RBCC1_HUMAN
DESCRIPTION: RecName: Full=RB1-inducible coiled-coil protein 1; AltName: Full=FAK family kinase-interacting protein of 200 kDa; Short=FIP200;
FUNCTION: 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. Involved in autophagy. Required for autophagosome formation (By similarity). Inhibits PTK2/FAK1 and PTK2B/PYK2 activity and activation of downstream signaling pathways.
SUBUNIT: Part of a complex consisting of ATG13/KIAA0652, ULK1 and RB1CC1. This complex associates with ATG101. Interacts with PTK2/FAK1 and PTK2B/PYK2.
INTERACTION: O75143:ATG13; NbExp=5; IntAct=EBI-1047793, EBI-2798775; A7MCY6:TBKBP1; NbExp=2; IntAct=EBI-1047793, EBI-359969; O75385:ULK1; NbExp=4; IntAct=EBI-1047793, EBI-908831;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytosol. Preautophagosomal structure (By similarity). 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).
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.
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;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RB1CC1
Diseases sorted by gene-association score: breast adenocarcinoma* (283), breast cancer* (261)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D013749 Tetrachlorodibenzodioxin
  • C029497 2,3-bis(3'-hydroxybenzyl)butyrolactone
  • C532162 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
  • C009505 4,4'-diaminodiphenylmethane
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D001554 Benzene
  • D001564 Benzo(a)pyrene
  • D019256 Cadmium Chloride
  • D020111 Chlorodiphenyl (54% Chlorine)
  • D002737 Chloroprene
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 22.70 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 512.24 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -235.30527-0.446 Picture PostScript Text
3' UTR -273.201324-0.206 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019460 - Autophagy-rel_p11

Pfam Domains:
PF04108 - Autophagy protein ATG17-like domain
PF10377 - Autophagy-related protein 11

SCOP Domains:
54236 - Ubiquitin-like

ModBase Predicted Comparative 3D Structure on Q8TDY2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGD  WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0019901 protein kinase binding
GO:0032947 protein complex scaffold

Biological Process:
GO:0000045 autophagosome assembly
GO:0000422 mitophagy
GO:0001889 liver development
GO:0001934 positive regulation of protein phosphorylation
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006914 autophagy
GO:0007049 cell cycle
GO:0007507 heart development
GO:0016236 macroautophagy
GO:0016241 regulation of macroautophagy
GO:0030242 pexophagy
GO:0043066 negative regulation of apoptotic process
GO:0045793 positive regulation of cell size
GO:0046330 positive regulation of JNK cascade
GO:0061709 reticulophagy
GO:0061723 glycophagy
GO:2001237 negative regulation of extrinsic apoptotic signaling pathway

Cellular Component:
GO:0000407 pre-autophagosomal structure
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0031965 nuclear membrane
GO:0034045 pre-autophagosomal structure membrane
GO:1990316 ATG1/ULK1 kinase complex


-  Descriptions from all associated GenBank mRNAs
  LP895599 - Sequence 463 from Patent EP3253886.
AB059622 - Homo sapiens RBICC mRNA for Rb1-inducible coiled coil protein, complete cds.
LF383586 - JP 2014500723-A/191089: Polycomb-Associated Non-Coding RNAs.
D86958 - Homo sapiens mRNA for KIAA0203 gene.
AK291699 - Homo sapiens cDNA FLJ77152 partial cds, highly similar to Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), mRNA.
MA619163 - JP 2018138019-A/191089: Polycomb-Associated Non-Coding RNAs.
JD566555 - Sequence 547579 from Patent EP1572962.
JD304705 - Sequence 285729 from Patent EP1572962.
Z35085 - H.sapiens mRNA for unknown antigen.
JD450520 - Sequence 431544 from Patent EP1572962.
JD047226 - Sequence 28250 from Patent EP1572962.
BC017556 - Homo sapiens RB1-inducible coiled-coil 1, mRNA (cDNA clone MGC:9519 IMAGE:3908134), complete cds.
JD181621 - Sequence 162645 from Patent EP1572962.
JD155067 - Sequence 136091 from Patent EP1572962.
JD226084 - Sequence 207108 from Patent EP1572962.
AK294579 - Homo sapiens cDNA FLJ56609 complete cds, highly similar to RB1-inducible coiled-coil protein 1.
JD378991 - Sequence 360015 from Patent EP1572962.
LF205816 - JP 2014500723-A/13319: Polycomb-Associated Non-Coding RNAs.
JD378508 - Sequence 359532 from Patent EP1572962.
AY173931 - Homo sapiens 200 kDa FAK family kinase-interacting protein FIP200 (RB1CC1) mRNA, partial cds.
DQ892402 - Synthetic construct clone IMAGE:100005032; FLH186014.01X; RZPDo839H11148D RB1-inducible coiled-coil 1 (RB1CC1) gene, encodes complete protein.
AB384446 - Synthetic construct DNA, clone: pF1KA0203, Homo sapiens RB1CC1 gene for RB1-inducible coiled-coil protein 1, complete cds, without stop codon, in Flexi system.
LF348495 - JP 2014500723-A/155998: Polycomb-Associated Non-Coding RNAs.
LF316971 - JP 2014500723-A/124474: Polycomb-Associated Non-Coding RNAs.
BC032074 - Homo sapiens RB1-inducible coiled-coil 1, mRNA (cDNA clone IMAGE:4519851).
LF316969 - JP 2014500723-A/124472: Polycomb-Associated Non-Coding RNAs.
LF348494 - JP 2014500723-A/155997: Polycomb-Associated Non-Coding RNAs.
LF348493 - JP 2014500723-A/155996: Polycomb-Associated Non-Coding RNAs.
LF316968 - JP 2014500723-A/124471: Polycomb-Associated Non-Coding RNAs.
AK307436 - Homo sapiens cDNA, FLJ97384.
LF316967 - JP 2014500723-A/124470: Polycomb-Associated Non-Coding RNAs.
LF316966 - JP 2014500723-A/124469: Polycomb-Associated Non-Coding RNAs.
LF316965 - JP 2014500723-A/124468: Polycomb-Associated Non-Coding RNAs.
LF348492 - JP 2014500723-A/155995: Polycomb-Associated Non-Coding RNAs.
LF316964 - JP 2014500723-A/124467: Polycomb-Associated Non-Coding RNAs.
LF316963 - JP 2014500723-A/124466: Polycomb-Associated Non-Coding RNAs.
LF316962 - JP 2014500723-A/124465: Polycomb-Associated Non-Coding RNAs.
LF348491 - JP 2014500723-A/155994: Polycomb-Associated Non-Coding RNAs.
LF316960 - JP 2014500723-A/124463: Polycomb-Associated Non-Coding RNAs.
LF316959 - JP 2014500723-A/124462: Polycomb-Associated Non-Coding RNAs.
JD077983 - Sequence 59007 from Patent EP1572962.
MA584072 - JP 2018138019-A/155998: Polycomb-Associated Non-Coding RNAs.
MA584071 - JP 2018138019-A/155997: Polycomb-Associated Non-Coding RNAs.
MA584070 - JP 2018138019-A/155996: Polycomb-Associated Non-Coding RNAs.
MA584069 - JP 2018138019-A/155995: Polycomb-Associated Non-Coding RNAs.
MA584068 - JP 2018138019-A/155994: Polycomb-Associated Non-Coding RNAs.
MA441393 - JP 2018138019-A/13319: Polycomb-Associated Non-Coding RNAs.
MA552548 - JP 2018138019-A/124474: Polycomb-Associated Non-Coding RNAs.
MA552546 - JP 2018138019-A/124472: Polycomb-Associated Non-Coding RNAs.
MA552545 - JP 2018138019-A/124471: Polycomb-Associated Non-Coding RNAs.
MA552544 - JP 2018138019-A/124470: Polycomb-Associated Non-Coding RNAs.
MA552543 - JP 2018138019-A/124469: Polycomb-Associated Non-Coding RNAs.
MA552542 - JP 2018138019-A/124468: Polycomb-Associated Non-Coding RNAs.
MA552541 - JP 2018138019-A/124467: Polycomb-Associated Non-Coding RNAs.
MA552540 - JP 2018138019-A/124466: Polycomb-Associated Non-Coding RNAs.
MA552539 - JP 2018138019-A/124465: Polycomb-Associated Non-Coding RNAs.
MA552537 - JP 2018138019-A/124463: Polycomb-Associated Non-Coding RNAs.
MA552536 - JP 2018138019-A/124462: Polycomb-Associated Non-Coding RNAs.
LF205136 - JP 2014500723-A/12639: Polycomb-Associated Non-Coding RNAs.
JD138712 - Sequence 119736 from Patent EP1572962.
JD348298 - Sequence 329322 from Patent EP1572962.
JD390030 - Sequence 371054 from Patent EP1572962.
JD360477 - Sequence 341501 from Patent EP1572962.
MA440713 - JP 2018138019-A/12639: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_stathminPathway - Stathmin and breast cancer resistance to antimicrotubule agents

Reactome (by CSHL, EBI, and GO)

Protein Q8TDY2 (Reactome details) participates in the following event(s):

R-HSA-5672011 p-AMPK:AMP binds the ULK complex
R-HSA-5672817 Active mTORC1 binds the ULK1 complex
R-HSA-5675790 mTORC1 dissociates from ULK complex
R-HSA-5665868 AMPK (complex) phosphorylates ULK1 (complex)
R-HSA-5672010 Active mTORC1 phosphorylates ULK1
R-HSA-5673768 p-AMPK:AMP phosphorylates Raptor in the mTORC1 complex
R-HSA-5675868 ULK1 phosphorylates ATG13 and RB1CC1
R-HSA-5679239 ULK complex translocates to the ER
R-HSA-1632857 ULK1 phosphorylates AMBRA1:Beclin-1 complex
R-HSA-5679205 ULK1 phosphorylates Beclin-1
R-HSA-1632852 Macroautophagy
R-HSA-8953897 Cellular responses to external stimuli

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000025008.1, ENST00000025008.2, ENST00000025008.3, ENST00000025008.4, ENST00000025008.5, ENST00000025008.6, ENST00000025008.7, ENST00000025008.8, ENST00000025008.9, KIAA0203, NM_014781, Q86YR4, Q8TDY2, Q8WVU9, Q92601, RB1CC1 , RBCC1_HUMAN, RBICC, uc317byp.1, uc317byp.2
UCSC ID: ENST00000025008.10_12
RefSeq Accession: NM_014781.5
Protein: Q8TDY2 (aka RBCC1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.