• Gene id: 9821

Gene Summary

• Gene Symbol: RB1CC1   Gene   UCSC   Ensembl
• Aliases: ATG17, CC1, FIP200, PPP1R131
• Gene name: RB1 inducible coiled-coil 1
• Alternate names: RB1-inducible coiled-coil protein 1, 200 kDa FAK family kinase-interacting protein, FAK family kinase-interacting protein of 200 kDa, phosphatase 1, regulatory subunit 131,
• Gene location: 8q11.23 (52714465: 52622457)     Exons: 28     NC_000008.11
• Gene summary(Entrez): 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. Al
• OMIM: 606837

Protein Summary

• Protein general information: Q8TDY2  
  • Name: RB1 inducible coiled coil protein 1 (FAK family kinase interacting protein of 200 kDa) (FIP200)
  • Length: 1594  
  • Mass: 183091
  • 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. {ECO
• Sequence:

  MKLYVFLVNTGTTLTFDTELTVQTVADLKHAIQSKYKIAIQHQVLVVNGGECMAADRRVCTYSAGTDTNPIFLFN
  KEMILCDRPPAIPKTTFSTENDMEIKVEESLMMPAVFHTVASRTQLALEMYEVAKKLCSFCEGLVHDEHLQHQGW
  AAIMANLEDCSNSYQKLLFKFESIYSNYLQSIEDIKLKLTHLGTAVSVMAKIPLLECLTRHSYRECLGRLDSLPE
  HEDSEKAEMKRSTELVLSPDMPRTTNESLLTSFPKSVEHVSPDTADAESGKEIRESCQSTVHQQDETTIDTKDGD
  LPFFNVSLLDWINVQDRPNDVESLVRKCFDSMSRLDPRIIRPFIAECRQTIAKLDNQNMKAIKGLEDRLYALDQM
  IASCGRLVNEQKELAQGFLANQKRAENLKDASVLPDLCLSHANQLMIMLQNHRKLLDIKQKCTTAKQELANNLHV
  RLKWCCFVMLHADQDGEKLQALLRLVIELLERVKIVEALSTVPQMYCLAVVEVVRRKMFIKHYREWAGALVKDGK
  RLYEAEKSKRESFGKLFRKSFLRNRLFRGLDSWPPSFCTQKPRKFDCELPDISLKDLQFLQSFCPSEVQPFLRVP
  LLCDFEPLHQHVLALHNLVKAAQSLDEMSQTITDLLSEQKASVSQTSPQSASSPRMESTAGITTTTSPRTPPPLT
  VQDPLCPAVCPLEELSPDSIDAHTFDFETIPHPNIEQTIHQVSLDLDSLAESPESDFMSAVNEFVIEENLSSPNP
  ISDPQSPEMMVESLYSSVINAIDSRRMQDTNVCGKEDFGDHTSLNVQLERCRVVAQDSHFSIQTIKEDLCHFRTF
  VQKEQCDFSNSLKCTAVEIRNIIEKVKCSLEITLKEKHQKELLSLKNEYEGKLDGLIKETEENENKIKKLKGELV
  CLEEVLQNKDNEFALVKHEKEAVICLQNEKDQKLLEMENIMHSQNCEIKELKQSREIVLEDLKKLHVENDEKLQL
  LRAELQSLEQSHLKELEDTLQVRHIQEFEKVMTDHRVSLEELKKENQQIINQIQESHAEIIQEKEKQLQELKLKV
  SDLSDTRCKLEVELALKEAETDEIKILLEESRAQQKETLKSLLEQETENLRTEISKLNQKIQDNNENYQVGLAEL
  RTLMTIEKDQCISELISRHEEESNILKAELNKVTSLHNQAFEIEKNLKEQIIELQSKLDSELSALERQKDEKITQ
  QEEKYEAIIQNLEKDRQKLVSSQEQDREQLIQKLNCEKDEAIQTALKEFKLEREVVEKELLEKVKHLENQIAKSP
  AIDSTRGDSSSLVAELQEKLQEEKAKFLEQLEEQEKRKNEEMQNVRTSLIAEQQTNFNTVLTREKMRKENIINDL
  SDKLKSTMQQQERDKDLIESLSEDRARLLEEKKKLEEEVSKLRSSSFVPSPYVATAPELYGACAPELPGESDRSA
  VETADEGRVDSAMETSMMSVQENIHMLSEEKQRIMLLERTLQLKEEENKRLNQRLMSQSMSSVSSRHSEKIAIRD
  FQVGDLVLIILDERHDNYVLFTVSPTLYFLHSESLPALDLKPGEGASGASRRPWVLGKVMEKEYCQAKKAQNRFK
  VPLGTKFYRVKAVSWNKKV

• Structural information:
  • Interpro: IPR040040  IPR019460  
  • PDB: 6DCE 6GMA
  • PDBsum: 6DCE 6GMA
  • DIP: 45969
  • STRING: ENSP00000025008
• Other Databases: GeneCards:  RB1CC1  Malacards:  RB1CC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061709	reticulophagy	IBA	biological process
GO:0034727	piecemeal microautophagy of the nucleus	IBA	biological process
GO:0019898	extrinsic component of membrane	IBA	cellular component
GO:1990316	Atg1/ULK1 kinase complex	IBA	cellular component
GO:0061723	glycophagy	IBA	biological process
GO:0060090	molecular adaptor activity	IBA	molecular function
GO:0034045	phagophore assembly site membrane	IBA	cellular component
GO:0030242	autophagy of peroxisome	IBA	biological process
GO:0019901	protein kinase binding	IBA	molecular function
GO:0001934	positive regulation of protein phosphorylation	IBA	biological process
GO:0000422	autophagy of mitochondrion	IBA	biological process
GO:0000045	autophagosome assembly	IBA	biological process
GO:0005764	lysosome	IDA	cellular component
GO:0000407	phagophore assembly site	IDA	cellular component
GO:1990316	Atg1/ULK1 kinase complex	IPI	cellular component
GO:0034045	phagophore assembly site membrane	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000045	autophagosome assembly	IEA	biological process
GO:0000422	autophagy of mitochondrion	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006914	autophagy	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016236	macroautophagy	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0016241	regulation of macroautophagy	TAS	biological process
GO:0016241	regulation of macroautophagy	TAS	biological process
GO:0016241	regulation of macroautophagy	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000407	phagophore assembly site	IEA	cellular component
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0000045	autophagosome assembly	IEA	biological process
GO:0001889	liver development	IEA	biological process
GO:0001934	positive regulation of protein phosphorylation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006914	autophagy	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0034045	phagophore assembly site membrane	IEA	cellular component
GO:0045793	positive regulation of cell size	IEA	biological process
GO:0046330	positive regulation of JNK cascade	IEA	biological process
GO:1990316	Atg1/ULK1 kinase complex	IEA	cellular component
GO:2001237	negative regulation of extrinsic apoptotic signaling pathway	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000407	phagophore assembly site	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006914	autophagy	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05017	Spinocerebellar ataxia
hsa04140	Autophagy - animal
hsa04211	Longevity regulating pathway

Diseases

Associated diseases	References
Breast cancer	PMID:12068296
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray