Reactome | UniProt:Q8TDY2 RB1CC1

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UniProt:Q8TDY2 RB1CC1 Show undefined attributes

chain	chain:1-1594
checksum	C9C90A328875016A
comment	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 structure that surrounds the Salmonella-containing vacuole (SCV) during S.typhimurium infection and subsequent xenophagy (By similarity). Involved in repair of DNA damage caused by ionizing radiation, which subsequently improves cell survival by decreasing apoptosis (By similarity). Inhibits PTK2/FAK1 and PTK2B/PYK2 kinase activity, affecting their downstream signaling pathways (PubMed:10769033, PubMed:12221124). Plays a role as a modulator of TGF-beta-signaling by restricting substrate specificity of RNF111 (By similarity). Functions as a DNA-binding transcription factor (PubMed:12095676). Is a potent regulator of the RB1 pathway through induction of RB1 expression (PubMed:14533007). Plays a crucial role in muscular differentiation (PubMed:12163359). Plays an indispensable role in fetal hematopoiesis and in the regulation of neuronal homeostasis (By similarity).SUBUNIT Part of a complex consisting of ATG13/KIAA0652, ULK1 and RB1CC1 (PubMed:19211835, PubMed:19597335). This complex associates with ATG101 (PubMed:19211835, PubMed:19597335). Interacts with PTK2/FAK1 and PTK2B/PYK2 (PubMed:10769033, PubMed:12221124). Interacts with GABARAP and GABARAPL1 (PubMed:23043107). Interacts with ATG16L1; the interaction is required for ULK1 complex-dependent autophagy (PubMed:23262492, PubMed:23392225, PubMed:24954904, PubMed:28890335). Interacts with RNF111, SKI and SMAD7 (By similarity). Interacts with COP1 in the cytoplasm of proliferating cells in response to UV stimulation (PubMed:23289756). Interacts with TP53 (PubMed:21775823). Interacts with C9orf72 (PubMed:27334615). Interacts with WDR45B (PubMed:28561066). Interacts with ATG13; this interaction is increased in the absence of TMEM39A (PubMed:31806350). Interacts with WIPI2 (PubMed:28890335). Interacts with TAX1BP1 (PubMed:33226137, PubMed:34471133). Interacts (via phosphorylated FFAT motif) with MOSPD2, VAPA and VAPB (PubMed:33124732).INTERACTION 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.ALTERNATIVE PRODUCTS 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.DOMAIN The FFAT motif is involved in the interaction with MOSPD2, VAPA and VAPB and its phosphorylation regulates these interactions.PTM Phosphorylation at Ser-734 of the FFAT motif activates interaction with MOSPD2, VAPA and VAPB.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.SIMILARITY Belongs to the ATG17 family.SEQUENCE CAUTION Extended N-terminus.
created	[InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
crossReference	[DatabaseIdentifier:12219750] PDB:7EAA [DatabaseIdentifier:12340837] RefSeq:XP_011515945.1 [DatabaseIdentifier:12340839] RefSeq:XP_016869596.1 [DatabaseIdentifier:12340836] RefSeq:NP_055596.3 [DatabaseIdentifier:12340838] RefSeq:NP_001077086.1 [DatabaseIdentifier:12291698] Pharos - Targets:Q8TDY2 [DatabaseIdentifier:12253765] PRO:Q8TDY2 [DatabaseIdentifier:11460338] ENSEMBL:ENSG00000023287 [DatabaseIdentifier:11553096] ENSEMBL:ENSP00000396067 [DatabaseIdentifier:11553097] ENSEMBL:ENSP00000025008 [DatabaseIdentifier:11675796] ENSEMBL:ENST00000435644 [DatabaseIdentifier:11675795] ENSEMBL:ENST00000025008 [DatabaseIdentifier:11793856] GeneCards:RB1CC1 [DatabaseIdentifier:11809825] GlyGen:Q8TDY2 [DatabaseIdentifier:11846846] HPA:ENSG00000023287-RB1CC1 [DatabaseIdentifier:12131508] OpenTargets:ENSG00000023287 [DatabaseIdentifier:12219749] PDB:6DCE [DatabaseIdentifier:12178855] PDB:8SQZ [DatabaseIdentifier:12165278] PDB:9C82 [DatabaseIdentifier:12204429] PDB:8YFN [DatabaseIdentifier:12219752] PDB:6GMA [DatabaseIdentifier:12204430] PDB:9D34 [DatabaseIdentifier:12204432] PDB:8YFL [DatabaseIdentifier:12178853] PDB:8SOI [DatabaseIdentifier:12219748] PDB:7CZG [DatabaseIdentifier:12150651] PDB:8W6B [DatabaseIdentifier:12208689] PDB:9J54 [DatabaseIdentifier:12207326] PDB:7CZM [DatabaseIdentifier:12219751] PDB:7D0E [DatabaseIdentifier:12204431] PDB:8YFK [DatabaseIdentifier:12178852] PDB:8SRM [DatabaseIdentifier:12204428] PDB:8YFM [DatabaseIdentifier:12209103] PDB:7EA2
databaseName	UniProt
dbId	244861
description	recommendedName: fullName evidence="30"RB1-inducible coiled-coil protein 1 alternativeName: FAK family kinase-interacting protein of 200 kDa shortName evidence="28"FIP200
displayName	UniProt:Q8TDY2 RB1CC1
geneName	RB1CC1 KIAA0203 RBICC
identifier	Q8TDY2
isSequenceChanged	false
keyword	3D-structure Alternative splicing Autophagy Cell cycle Coiled coil Cytoplasm Lysosome Nucleus Phosphoprotein Proteomics identification Reference proteome Transcription Transcription regulation Tumor suppressor
modified	[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	RB1CC1
otherIdentifier	11743480_s_at 11743481_at 17077135 202033_PM_s_at 202033_s_at 202034_PM_x_at 202034_x_at 3135190 3135191 3135192 3135193 3135194 3135195 3135196 3135199 3135202 3135204 3135205 3135206 3135207 3135208 3135209 3135210 3135211 3135213 3135221 3135222 3135223 3135224 3135225 3135226 3135227 3135228 3135229 3135230 3135231 3135232 3135233 3135236 3135237 3135238 3135240 3135241 3135242 3135243 3135244 3135250 3135251 34875_r_at 8150757 9821 A_23_P9056 D86958_at GE57364 GO:0000045 GO:0000407 GO:0000421 GO:0000422 GO:0000425 GO:0001889 GO:0002376 GO:0005515 GO:0005634 GO:0005737 GO:0005764 GO:0005773 GO:0005789 GO:0005829 GO:0006914 GO:0006915 GO:0007507 GO:0008285 GO:0010508 GO:0019901 GO:0031090 GO:0031965 GO:0034045 GO:0034517 GO:0034727 GO:0043066 GO:0043495 GO:0045087 GO:0045793 GO:0046330 GO:0048856 GO:0051607 GO:0060090 GO:0061709 GO:0061723 GO:0097191 GO:0098542 GO:1990316 GO:2001237 HMNXSV003047435 Hs.50421.0.S1_3p_a_at ILMN_1736796 PH_hs_0022683 TC08001210.hg Z35085_s_at g7661991_3p_a_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-8948046] RB1CC1 [endoplasmic reticulum membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5675845] p-RB1CC1 [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5333627] RB1CC1 [cytosol] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:ensembl:ENSG00000023287] ENSEMBL:ENSG00000023287 RB1CC1 [ReferenceDNASequence:12678422] UCSC:Q8TDY2 RB1CC1 [ReferenceDNASequence:11324952] BioGPS Gene:9821 RB1CC1 [ReferenceDNASequence:11391884] COSMIC - genes:RB1CC1 RB1CC1 [ReferenceDNASequence:11422471] CTD Gene:9821 RB1CC1 [ReferenceDNASequence:11427601] dbSNP Gene:9821 RB1CC1 [ReferenceDNASequence:11825551] HGNC:15574 RB1CC1 [ReferenceDNASequence:11867397] KEGG:hsa:9821 RB1CC1 [ReferenceDNASequence:11954741] Monarch:9821 RB1CC1 [ReferenceDNASequence:12038834] NCBI Gene:9821 RB1CC1 [ReferenceDNASequence:12115961] OMIM:606837 RB1CC1
referenceTranscript	[ReferenceRNASequence:12522738] RefSeq:NM_014781.4 RB1CC1 [ReferenceRNASequence:12522741] RefSeq:XM_017014107.3 RB1CC1 [ReferenceRNASequence:12522740] RefSeq:XM_011517643.2 RB1CC1 [ReferenceRNASequence:12522739] RefSeq:NM_001083617.2 RB1CC1
schemaClass	ReferenceGeneProduct
secondaryIdentifier	RBCC1_HUMAN Q86YR4 Q8WVU9 Q92601
sequenceLength	1594
species	[Species:48887] Homo sapiens
stId	uniprot:Q8TDY2
url	http://purl.uniprot.org/uniprot/Q8TDY2

Referrals

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-8948046] RB1CC1 [endoplasmic reticulum membrane] [EntityWithAccessionedSequence:R-HSA-5675845] p-RB1CC1 [cytosol] [EntityWithAccessionedSequence:R-HSA-5333627] RB1CC1 [cytosol]
(referenceSequence)	[ModifiedResidue:5675838] phosphorylated residue at unknown position
(interactor)	[UndirectedInteraction:11135559] UniProt:Q9UHD2 <-> UniProt:Q8TDY2 (IntAct) [UndirectedInteraction:11159365] UniProt:Q9NYA4 <-> UniProt:Q8TDY2 (IntAct) [UndirectedInteraction:11241349] UniProt:O75385 <-> UniProt:Q8TDY2 (IntAct) [UndirectedInteraction:11265709] UniProt:O94817 <-> UniProt:Q8TDY2 (IntAct) [UndirectedInteraction:11267417] UniProt:Q9H1Y0 <-> UniProt:Q8TDY2 (IntAct) [UndirectedInteraction:11282281] UniProt:Q676U5 <-> UniProt:Q8TDY2 (IntAct)

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