Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9821
Gene name	RB1 inducible coiled-coil 1
Gene symbol	RB1CC1
Synonyms (NCBI Gene)	ATG17CC1FIP200PPP1R131
Chromosome	8
Chromosome location	8q11.23
Summary	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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT007127	hsa-miR-133b	Luciferase reporter assay	23451058
MIRT020069	hsa-miR-375	Microarray	20215506
MIRT027791	hsa-miR-98-5p	Microarray	19088304
MIRT041413	hsa-miR-193b-3p	CLASH	23622248
MIRT731268	hsa-miR-20a-5p	Luciferase reporter assay	26829385
MIRT731268	hsa-miR-20a-5p	Luciferase reporter assay	26829385
MIRT731269	hsa-miR-20b-5p	Luciferase reporter assay	26829385
MIRT731269	hsa-miR-20b-5p	Luciferase reporter assay	26829385
MIRT731269	hsa-miR-20b-5p	Luciferase reporter assay	26829385
MIRT731269	hsa-miR-20b-5p	Luciferase reporter assay	26829385
MIRT731268	hsa-miR-20a-5p	Luciferase reporter assay	26829385
MIRT731268	hsa-miR-20a-5p	Luciferase reporter assay	26829385
MIRT732276	hsa-miR-224-3p	dual-luciferase reporter assayWestern blotImmunohistochemistry	26536662
MIRT732276	hsa-miR-224-3p	dual-luciferase reporter assayWestern blotImmunohistochemistry	26536662
MIRT732276	hsa-miR-224-3p	dual-luciferase reporter assayWestern blotImmunohistochemistry	26536662
MIRT732276	hsa-miR-224-3p	dual-luciferase reporter assayWestern blotImmunohistochemistry	26536662
MIRT732276	hsa-miR-224-3p	Luciferase reporter assay	27615604
MIRT1293416	hsa-miR-4517	CLIP-seq
MIRT1293417	hsa-miR-1284	CLIP-seq
MIRT1293418	hsa-miR-4277	CLIP-seq
MIRT1293419	hsa-miR-4282	CLIP-seq
MIRT1293420	hsa-miR-4328	CLIP-seq
MIRT1293421	hsa-miR-582-5p	CLIP-seq
MIRT2087168	hsa-miR-3143	CLIP-seq
MIRT2087169	hsa-miR-3646	CLIP-seq
MIRT2087170	hsa-miR-3662	CLIP-seq
MIRT2087171	hsa-miR-4457	CLIP-seq
MIRT2087172	hsa-miR-518d-5p	CLIP-seq
MIRT2087173	hsa-miR-519b-5p	CLIP-seq
MIRT2087174	hsa-miR-519c-5p	CLIP-seq
MIRT2087175	hsa-miR-520c-5p	CLIP-seq
MIRT2087176	hsa-miR-526a	CLIP-seq
MIRT2087177	hsa-miR-539	CLIP-seq
MIRT2087178	hsa-miR-580	CLIP-seq
MIRT2087179	hsa-miR-624	CLIP-seq
MIRT2087180	hsa-miR-938	CLIP-seq
MIRT2087168	hsa-miR-3143	CLIP-seq
MIRT2087169	hsa-miR-3646	CLIP-seq
MIRT2087170	hsa-miR-3662	CLIP-seq
MIRT2393515	hsa-miR-142-5p	CLIP-seq
MIRT2393516	hsa-miR-186	CLIP-seq
MIRT2393517	hsa-miR-3133	CLIP-seq
MIRT2393518	hsa-miR-3152-3p	CLIP-seq
MIRT2393519	hsa-miR-340	CLIP-seq
MIRT2608402	hsa-miR-105	CLIP-seq
MIRT2608403	hsa-miR-106a	CLIP-seq
MIRT2608404	hsa-miR-106b	CLIP-seq
MIRT2608405	hsa-miR-1205	CLIP-seq
MIRT2608406	hsa-miR-122	CLIP-seq
MIRT2608407	hsa-miR-1236	CLIP-seq
MIRT2608408	hsa-miR-1244	CLIP-seq
MIRT2608409	hsa-miR-1245b-3p	CLIP-seq
MIRT2608410	hsa-miR-1286	CLIP-seq
MIRT2608411	hsa-miR-135a	CLIP-seq
MIRT2608412	hsa-miR-135b	CLIP-seq
MIRT2608413	hsa-miR-138	CLIP-seq
MIRT2608414	hsa-miR-141	CLIP-seq
MIRT2393515	hsa-miR-142-5p	CLIP-seq
MIRT2608415	hsa-miR-153	CLIP-seq
MIRT2608416	hsa-miR-17	CLIP-seq
MIRT2608417	hsa-miR-1827	CLIP-seq
MIRT2393516	hsa-miR-186	CLIP-seq
MIRT2608418	hsa-miR-1912	CLIP-seq
MIRT2608419	hsa-miR-200a	CLIP-seq
MIRT2608420	hsa-miR-203	CLIP-seq
MIRT2608421	hsa-miR-204	CLIP-seq
MIRT2608422	hsa-miR-20a	CLIP-seq
MIRT2608423	hsa-miR-20b	CLIP-seq
MIRT2608424	hsa-miR-211	CLIP-seq
MIRT2608425	hsa-miR-24	CLIP-seq
MIRT2608426	hsa-miR-302a	CLIP-seq
MIRT2608427	hsa-miR-302b	CLIP-seq
MIRT2608428	hsa-miR-302c	CLIP-seq
MIRT2608429	hsa-miR-302d	CLIP-seq
MIRT2608430	hsa-miR-302e	CLIP-seq
MIRT2608431	hsa-miR-3121-3p	CLIP-seq
MIRT2393517	hsa-miR-3133	CLIP-seq
MIRT2608432	hsa-miR-3140-3p	CLIP-seq
MIRT2087168	hsa-miR-3143	CLIP-seq
MIRT2608433	hsa-miR-3147	CLIP-seq
MIRT2393518	hsa-miR-3152-3p	CLIP-seq
MIRT2608434	hsa-miR-3168	CLIP-seq
MIRT2608435	hsa-miR-3198	CLIP-seq
MIRT2393519	hsa-miR-340	CLIP-seq
MIRT2608436	hsa-miR-361-5p	CLIP-seq
MIRT2087169	hsa-miR-3646	CLIP-seq
MIRT2087170	hsa-miR-3662	CLIP-seq
MIRT2608437	hsa-miR-3663-3p	CLIP-seq
MIRT2608438	hsa-miR-370	CLIP-seq
MIRT2608439	hsa-miR-371b-5p	CLIP-seq
MIRT2608440	hsa-miR-372	CLIP-seq
MIRT2608441	hsa-miR-373	CLIP-seq
MIRT2608442	hsa-miR-376a	CLIP-seq
MIRT2608443	hsa-miR-376b	CLIP-seq
MIRT2608444	hsa-miR-3920	CLIP-seq
MIRT2608445	hsa-miR-4280	CLIP-seq
MIRT2608446	hsa-miR-4284	CLIP-seq
MIRT2608447	hsa-miR-4309	CLIP-seq
MIRT2608448	hsa-miR-4310	CLIP-seq
MIRT2608449	hsa-miR-4418	CLIP-seq
MIRT2608450	hsa-miR-4425	CLIP-seq
MIRT2608451	hsa-miR-4426	CLIP-seq
MIRT2608452	hsa-miR-4427	CLIP-seq
MIRT2608453	hsa-miR-4436a	CLIP-seq
MIRT2087171	hsa-miR-4457	CLIP-seq
MIRT2608454	hsa-miR-4464	CLIP-seq
MIRT2608455	hsa-miR-4470	CLIP-seq
MIRT2608456	hsa-miR-448	CLIP-seq
MIRT2608457	hsa-miR-4490	CLIP-seq
MIRT2608458	hsa-miR-450b-5p	CLIP-seq
MIRT1293416	hsa-miR-4517	CLIP-seq
MIRT2608459	hsa-miR-4647	CLIP-seq
MIRT2608460	hsa-miR-4649-3p	CLIP-seq
MIRT2608461	hsa-miR-4662b	CLIP-seq
MIRT2608462	hsa-miR-4668-3p	CLIP-seq
MIRT2608463	hsa-miR-4680-3p	CLIP-seq
MIRT2608464	hsa-miR-4698	CLIP-seq
MIRT2608465	hsa-miR-4699-5p	CLIP-seq
MIRT2608466	hsa-miR-4704-3p	CLIP-seq
MIRT2608467	hsa-miR-4705	CLIP-seq
MIRT2608468	hsa-miR-4709-3p	CLIP-seq
MIRT2608469	hsa-miR-4719	CLIP-seq
MIRT2608470	hsa-miR-4722-5p	CLIP-seq
MIRT2608471	hsa-miR-4738-3p	CLIP-seq
MIRT2608472	hsa-miR-4742-5p	CLIP-seq
MIRT2608473	hsa-miR-4747-5p	CLIP-seq
MIRT2608474	hsa-miR-4748	CLIP-seq
MIRT2608475	hsa-miR-4755-5p	CLIP-seq
MIRT2608476	hsa-miR-4765	CLIP-seq
MIRT2608477	hsa-miR-4777-5p	CLIP-seq
MIRT2608478	hsa-miR-4781-3p	CLIP-seq
MIRT2608479	hsa-miR-4789-5p	CLIP-seq
MIRT2608480	hsa-miR-483-3p	CLIP-seq
MIRT2608481	hsa-miR-494	CLIP-seq
MIRT2608482	hsa-miR-498	CLIP-seq
MIRT2608483	hsa-miR-507	CLIP-seq
MIRT2608484	hsa-miR-509-3-5p	CLIP-seq
MIRT2608485	hsa-miR-509-5p	CLIP-seq
MIRT2608486	hsa-miR-513b	CLIP-seq
MIRT2087172	hsa-miR-518d-5p	CLIP-seq
MIRT2087173	hsa-miR-519b-5p	CLIP-seq
MIRT2087174	hsa-miR-519c-5p	CLIP-seq
MIRT2608487	hsa-miR-519d	CLIP-seq
MIRT2608488	hsa-miR-520a-3p	CLIP-seq
MIRT2608489	hsa-miR-520b	CLIP-seq
MIRT2608490	hsa-miR-520c-3p	CLIP-seq
MIRT2087175	hsa-miR-520c-5p	CLIP-seq
MIRT2608491	hsa-miR-520d-3p	CLIP-seq
MIRT2608492	hsa-miR-520e	CLIP-seq
MIRT2608493	hsa-miR-520f	CLIP-seq
MIRT2608494	hsa-miR-522	CLIP-seq
MIRT2087176	hsa-miR-526a	CLIP-seq
MIRT2087177	hsa-miR-539	CLIP-seq
MIRT2608495	hsa-miR-543	CLIP-seq
MIRT2608496	hsa-miR-557	CLIP-seq
MIRT2087178	hsa-miR-580	CLIP-seq
MIRT2608497	hsa-miR-623	CLIP-seq
MIRT2087179	hsa-miR-624	CLIP-seq
MIRT2608498	hsa-miR-627	CLIP-seq
MIRT2608499	hsa-miR-628-5p	CLIP-seq
MIRT2608500	hsa-miR-888	CLIP-seq
MIRT2608501	hsa-miR-889	CLIP-seq
MIRT2608502	hsa-miR-924	CLIP-seq
MIRT2608503	hsa-miR-93	CLIP-seq
MIRT2087180	hsa-miR-938	CLIP-seq
MIRT2608402	hsa-miR-105	CLIP-seq
MIRT2608403	hsa-miR-106a	CLIP-seq
MIRT2608404	hsa-miR-106b	CLIP-seq
MIRT2608405	hsa-miR-1205	CLIP-seq
MIRT2608406	hsa-miR-122	CLIP-seq
MIRT2608410	hsa-miR-1286	CLIP-seq
MIRT2608411	hsa-miR-135a	CLIP-seq
MIRT2608412	hsa-miR-135b	CLIP-seq
MIRT2608413	hsa-miR-138	CLIP-seq
MIRT2608414	hsa-miR-141	CLIP-seq
MIRT2608415	hsa-miR-153	CLIP-seq
MIRT2608416	hsa-miR-17	CLIP-seq
MIRT2608417	hsa-miR-1827	CLIP-seq
MIRT2608419	hsa-miR-200a	CLIP-seq
MIRT2608420	hsa-miR-203	CLIP-seq
MIRT2608422	hsa-miR-20a	CLIP-seq
MIRT2608423	hsa-miR-20b	CLIP-seq
MIRT2608425	hsa-miR-24	CLIP-seq
MIRT2608426	hsa-miR-302a	CLIP-seq
MIRT2608427	hsa-miR-302b	CLIP-seq
MIRT2608428	hsa-miR-302c	CLIP-seq
MIRT2608429	hsa-miR-302d	CLIP-seq
MIRT2608430	hsa-miR-302e	CLIP-seq
MIRT2608431	hsa-miR-3121-3p	CLIP-seq
MIRT2608432	hsa-miR-3140-3p	CLIP-seq
MIRT2087168	hsa-miR-3143	CLIP-seq
MIRT2608433	hsa-miR-3147	CLIP-seq
MIRT2608435	hsa-miR-3198	CLIP-seq
MIRT2608436	hsa-miR-361-5p	CLIP-seq
MIRT2087170	hsa-miR-3662	CLIP-seq
MIRT2608437	hsa-miR-3663-3p	CLIP-seq
MIRT2608438	hsa-miR-370	CLIP-seq
MIRT2608439	hsa-miR-371b-5p	CLIP-seq
MIRT2608440	hsa-miR-372	CLIP-seq
MIRT2608441	hsa-miR-373	CLIP-seq
MIRT2608444	hsa-miR-3920	CLIP-seq
MIRT2608445	hsa-miR-4280	CLIP-seq
MIRT2608446	hsa-miR-4284	CLIP-seq
MIRT2608447	hsa-miR-4309	CLIP-seq
MIRT2608448	hsa-miR-4310	CLIP-seq
MIRT2608449	hsa-miR-4418	CLIP-seq
MIRT2608450	hsa-miR-4425	CLIP-seq
MIRT2608451	hsa-miR-4426	CLIP-seq
MIRT2608453	hsa-miR-4436a	CLIP-seq
MIRT2087171	hsa-miR-4457	CLIP-seq
MIRT2608454	hsa-miR-4464	CLIP-seq
MIRT2608455	hsa-miR-4470	CLIP-seq
MIRT2608456	hsa-miR-448	CLIP-seq
MIRT2608457	hsa-miR-4490	CLIP-seq
MIRT2608458	hsa-miR-450b-5p	CLIP-seq
MIRT1293416	hsa-miR-4517	CLIP-seq
MIRT2608459	hsa-miR-4647	CLIP-seq
MIRT2608460	hsa-miR-4649-3p	CLIP-seq
MIRT2608461	hsa-miR-4662b	CLIP-seq
MIRT2608462	hsa-miR-4668-3p	CLIP-seq
MIRT2608464	hsa-miR-4698	CLIP-seq
MIRT2608465	hsa-miR-4699-5p	CLIP-seq
MIRT2608466	hsa-miR-4704-3p	CLIP-seq
MIRT2608468	hsa-miR-4709-3p	CLIP-seq
MIRT2608469	hsa-miR-4719	CLIP-seq
MIRT2608470	hsa-miR-4722-5p	CLIP-seq
MIRT2608471	hsa-miR-4738-3p	CLIP-seq
MIRT2608472	hsa-miR-4742-5p	CLIP-seq
MIRT2608473	hsa-miR-4747-5p	CLIP-seq
MIRT2608474	hsa-miR-4748	CLIP-seq
MIRT2608476	hsa-miR-4765	CLIP-seq
MIRT2608477	hsa-miR-4777-5p	CLIP-seq
MIRT2608478	hsa-miR-4781-3p	CLIP-seq
MIRT2608480	hsa-miR-483-3p	CLIP-seq
MIRT2608481	hsa-miR-494	CLIP-seq
MIRT2608482	hsa-miR-498	CLIP-seq
MIRT2608483	hsa-miR-507	CLIP-seq
MIRT2608484	hsa-miR-509-3-5p	CLIP-seq
MIRT2608485	hsa-miR-509-5p	CLIP-seq
MIRT2608486	hsa-miR-513b	CLIP-seq
MIRT2087172	hsa-miR-518d-5p	CLIP-seq
MIRT2087173	hsa-miR-519b-5p	CLIP-seq
MIRT2087174	hsa-miR-519c-5p	CLIP-seq
MIRT2608487	hsa-miR-519d	CLIP-seq
MIRT2608488	hsa-miR-520a-3p	CLIP-seq
MIRT2608489	hsa-miR-520b	CLIP-seq
MIRT2608490	hsa-miR-520c-3p	CLIP-seq
MIRT2087175	hsa-miR-520c-5p	CLIP-seq
MIRT2608491	hsa-miR-520d-3p	CLIP-seq
MIRT2608492	hsa-miR-520e	CLIP-seq
MIRT2608493	hsa-miR-520f	CLIP-seq
MIRT2608494	hsa-miR-522	CLIP-seq
MIRT2087176	hsa-miR-526a	CLIP-seq
MIRT2608495	hsa-miR-543	CLIP-seq
MIRT2608496	hsa-miR-557	CLIP-seq
MIRT2087179	hsa-miR-624	CLIP-seq
MIRT2608498	hsa-miR-627	CLIP-seq
MIRT2608499	hsa-miR-628-5p	CLIP-seq
MIRT2608500	hsa-miR-888	CLIP-seq
MIRT2608501	hsa-miR-889	CLIP-seq
MIRT2608502	hsa-miR-924	CLIP-seq
MIRT2608503	hsa-miR-93	CLIP-seq
MIRT2087168	hsa-miR-3143	CLIP-seq
MIRT2087170	hsa-miR-3662	CLIP-seq
MIRT1293416	hsa-miR-4517	CLIP-seq

Show/Hide all (55)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IBA
GO:0000045	Process	Autophagosome assembly	IDA	23202584
GO:0000045	Process	Autophagosome assembly	IDA	19225151, 23392225, 28890335
GO:0000045	Process	Autophagosome assembly	IEA
GO:0000045	Process	Autophagosome assembly	IMP	30778222
GO:0000407	Component	Phagophore assembly site	IDA	28561066
GO:0000407	Component	Phagophore assembly site	IDA	19597335, 28561066
GO:0000407	Component	Phagophore assembly site	IEA
GO:0000421	Component	Autophagosome membrane	IEA
GO:0000422	Process	Autophagy of mitochondrion	IBA
GO:0000425	Process	Pexophagy	IBA
GO:0001889	Process	Liver development	IEA
GO:0005515	Function	Protein binding	IPI	19211835, 19597335, 20562859, 21903422, 23262492, 23392225, 23524951, 25686248, 27334615, 28561066, 28890335, 29950492, 31806350, 32707033, 33124732, 33368531, 33422265, 33961781, 34524948, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IDA	28561066
GO:0005764	Component	Lysosome	IEA
GO:0005773	Component	Vacuole	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006914	Process	Autophagy	IEA
GO:0006914	Process	Autophagy	ISS
GO:0006915	Process	Apoptotic process	IEA
GO:0007507	Process	Heart development	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	21795849
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0010508	Process	Positive regulation of autophagy	IEA
GO:0010508	Process	Positive regulation of autophagy	ISO
GO:0019901	Function	Protein kinase binding	IBA
GO:0019901	Function	Protein kinase binding	IDA	19211835
GO:0019901	Function	Protein kinase binding	IEA
GO:0031090	Component	Organelle membrane	IEA
GO:0031965	Component	Nuclear membrane	IDA
GO:0034045	Component	Phagophore assembly site membrane	IBA
GO:0034045	Component	Phagophore assembly site membrane	IEA
GO:0034045	Component	Phagophore assembly site membrane	ISS
GO:0034517	Process	Ribophagy	IBA
GO:0034727	Process	Piecemeal microautophagy of the nucleus	IBA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043495	Function	Protein-membrane adaptor activity	IDA	23392225
GO:0045087	Process	Innate immune response	IEA
GO:0045793	Process	Positive regulation of cell size	IEA
GO:0046330	Process	Positive regulation of JNK cascade	IEA
GO:0051607	Process	Defense response to virus	IEA
GO:0060090	Function	Molecular adaptor activity	IBA
GO:0061709	Process	Reticulophagy	IBA
GO:0061709	Process	Reticulophagy	IEA
GO:0061723	Process	Glycophagy	IBA
GO:0097191	Process	Extrinsic apoptotic signaling pathway	IEA
GO:1990316	Component	Atg1/ULK1 kinase complex	IBA
GO:1990316	Component	Atg1/ULK1 kinase complex	IEA
GO:1990316	Component	Atg1/ULK1 kinase complex	IPI	19211835, 19597335
GO:2001237	Process	Negative regulation of extrinsic apoptotic signaling pathway	IEA

MIM	HGNC	e!Ensembl
606837	15574	ENSG00000023287

Q8TDY2

Protein name

RB1-inducible coiled-coil protein 1 (FAK family kinase-interacting protein of 200 kDa) (FIP200)

Protein 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 struc

PDB

6DCE , 6GMA , 7CZG , 7CZM , 7D0E , 7EA2 , 7EAA , 8SOI , 8SQZ , 8SRM , 8W6B , 8YFK , 8YFL , 8YFM , 8YFN , 9C82 , 9D34

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10377	ATG11	1456 → 1589	Autophagy-related protein 11	Family

Tissue specificity

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:0000269|PubMed:11850849, ECO:00

Sequence

MKLYVFLVNTGTTLTFDTELTVQTVADLKHAIQSKYKIAIQHQVLVVNGGECMAADRRVC
TYSAGTDTNPIFLFNKEMILCDRPPAIPKTTFSTENDMEIKVEESLMMPAVFHTVASRTQ
LALEMYEVAKKLCSFCEGLVHDEHLQHQGWAAIMANLEDCSNSYQKLLFKFESIYSNYLQ
SIEDIKLKLTHLGTAVSVMAKIPLLECLTRHSYRECLGRLDSLPEHEDSEKAEMKRSTEL
VLSPDMPRTTNESLLTSFPKSVEHVSPDTADAESGKEIRESCQSTVHQQDETTIDTKDGD
LPFFNVSLLDWINVQDRPNDVESLVRKCFDSMSRLDPRIIRPFIAECRQTIAKLDNQNMK
AIKGLEDRLYALDQMIASCGRLVNEQKELAQGFLANQKRAENLKDASVLPDLCLSHANQL
MIMLQNHRKLLDIKQKCTTAKQELANNLHVRLKWCCFVMLHADQDGEKLQALLRLVIELL
ERVKIVEALSTVPQMYCLAVVEVVRRKMFIKHYREWAGALVKDGKRLYEAEKSKRESFGK
LFRKSFLRNRLFRGLDSWPPSFCTQKPRKFDCELPDISLKDLQFLQSFCPSEVQPFLRVP
LLCDFEPLHQHVLALHNLVKAAQSLDEMSQTITDLLSEQKASVSQTSPQSASSPRMESTA
GITTTTSPRTPPPLTVQDPLCPAVCPLEELSPDSIDAHTFDFETIPHPNIEQTIHQVSLD
LDSLAESPESDFMSAVNEFVIEENLSSPNPISDPQSPEMMVESLYSSVINAIDSRRMQDT
NVCGKEDFGDHTSLNVQLERCRVVAQDSHFSIQTIKEDLCHFRTFVQKEQCDFSNSLKCT
AVEIRNIIEKVKCSLEITLKEKHQKELLSLKNEYEGKLDGLIKETEENENKIKKLKGELV
CLEEVLQNKDNEFALVKHEKEAVICLQNEKDQKLLEMENIMHSQNCEIKELKQSREIVLE
DLKKLHVENDEKLQLLRAELQSLEQSHLKELEDTLQVRHIQEFEKVMTDHRVSLEELKKE
NQQIINQIQESHAEIIQEKEKQLQELKLKVSDLSDTRCKLEVELALKEAETDEIKILLEE
SRAQQKETLKSLLEQETENLRTEISKLNQKIQDNNENYQVGLAELRTLMTIEKDQCISEL
ISRHEEESNILKAELNKVTSLHNQAFEIEKNLKEQIIELQSKLDSELSALERQKDEKITQ
QEEKYEAIIQNLEKDRQKLVSSQEQDREQLIQKLNCEKDEAIQTALKEFKLEREVVEKEL
LEKVKHLENQIAKSPAIDSTRGDSSSLVAELQEKLQEEKAKFLEQLEEQEKRKNEEMQNV
RTSLIAEQQTNFNTVLTREKMRKENIINDLSDKLKSTMQQQERDKDLIESLSEDRARLLE
EKKKLEEEVSKLRSSSFVPSPYVATAPELYGACAPELPGESDRSAVETADEGRVDSAMET
SMMSVQENIHMLSEEKQRIMLLERTLQLKEEENKRLNQRLMSQSMSSVSSRHSEKIAIRD
FQVGDLVLIILDERHDNYVLFTVSPTLYFLHSESLPALDLKPGEGASGASRRPWVLGKVM
EKEYCQAKKAQNRFKVPLGTKFYRVKAVSWNKKV

Sequence length

1594

Interactions

View interactions

	KEGG		Reactome
	Autophagy - animal Longevity regulating pathway Alzheimer disease Amyotrophic lateral sclerosis Huntington disease Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases		Macroautophagy

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Familial cancer of breast	Likely pathogenic	rs746206314	RCV002249150

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial pancreatic carcinoma	Benign	rs34502306	RCV005903359
Gastric cancer	Benign	rs73681526	RCV005913373
Malignant tumor of esophagus	Benign	rs34502306	RCV005903358

Show/Hide Text Mining Associations (41)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Ataxia	Associate	34130600
Brain Diseases	Associate	34130600
Breast Neoplasms	Associate	20614030, 21203526
Carcinoma Non Small Cell Lung	Inhibit	35068326
Carcinoma Renal Cell	Associate	26208877
Chediak Higashi Syndrome	Associate	34130600
Cholangiocarcinoma	Associate	38117655
Chromosomal Instability	Associate	19888451
Colonic Neoplasms	Associate	19888451
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	34130600
Death	Associate	21203526
Edema	Associate	37137886
Endometrial Neoplasms	Associate	26208877
Fractures Spontaneous	Associate	37137886
Frontotemporal Dementia	Associate	34130600
Gaucher Disease	Associate	34130600
Gerstmann Straussler Scheinker Disease	Associate	34130600
Glioblastoma	Associate	21602932
Glycogen Storage Disease	Associate	34130600
Huntington Disease	Associate	34130600
Hyperkinesis	Associate	37137886
Hypertension	Associate	28347919
Immunologic Deficiency Syndromes	Associate	37137886
Leukemia Myeloid Acute	Associate	35128828
Mental Disorders	Associate	37137886
Microsatellite Instability	Associate	19888451
Neoplasm Metastasis	Associate	30180906
Neoplasms	Associate	12163359, 19888451, 21203526, 21602932, 26020424, 26208877, 32920960
Neoplasms	Inhibit	20614030
Neuronal Ceroid Lipofuscinoses	Associate	34130600
Niemann Pick Disease Type A	Associate	34130600
Obesity	Associate	33340270
Osteosarcoma	Associate	12163359
Parkinson Disease	Associate	34130600
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	22348345
Retinoblastoma	Associate	21203526
Schizophrenia	Associate	33340270
Squamous Cell Carcinoma of Head and Neck	Associate	37615536
Urinary Bladder Neoplasms	Associate	28381171
Uterine Cervical Neoplasms	Associate	27615604
Weight Loss	Associate	33082492

RB1CC1 (RB1 inducible coiled-coil 1)