CUL1 (cullin 1)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 8454
• Gene name: Cullin 1
• Gene symbol: CUL1
• Synonyms (NCBI Gene): -
• Chromosome: 7
• Chromosome location: 7q36.1

miRNA Show/Hide all (246)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032428	hsa-let-7b-5p	Proteomics	18668040
MIRT050028	hsa-miR-27a-3p	CLASH	23622248
MIRT048506	hsa-miR-100-5p	CLASH	23622248
MIRT046199	hsa-miR-27b-3p	CLASH	23622248
MIRT738305	hsa-miR-520a-3p	HITS-CLIP	33718276
MIRT738311	hsa-miR-302e	HITS-CLIP	33718276
MIRT738312	hsa-miR-106a	CLIP-seq
MIRT738315	hsa-miR-106b	CLIP-seq
MIRT916378	hsa-miR-1200	CLIP-seq
MIRT916379	hsa-miR-1284	CLIP-seq
MIRT738313	hsa-miR-17	CLIP-seq
MIRT916380	hsa-miR-1910	CLIP-seq
MIRT916381	hsa-miR-203	CLIP-seq
MIRT738314	hsa-miR-20a	CLIP-seq
MIRT738317	hsa-miR-20b	CLIP-seq
MIRT916382	hsa-miR-2116	CLIP-seq
MIRT916383	hsa-miR-300	CLIP-seq
MIRT738310	hsa-miR-302a	CLIP-seq
MIRT738301	hsa-miR-302b	CLIP-seq
MIRT738303	hsa-miR-302c	CLIP-seq
MIRT738304	hsa-miR-302d	CLIP-seq
MIRT916384	hsa-miR-3646	CLIP-seq
MIRT916385	hsa-miR-3662	CLIP-seq
MIRT738322	hsa-miR-371-5p	CLIP-seq
MIRT738323	hsa-miR-371b-5p	CLIP-seq
MIRT738302	hsa-miR-372	CLIP-seq
MIRT738307	hsa-miR-373	CLIP-seq
MIRT916386	hsa-miR-377	CLIP-seq
MIRT916387	hsa-miR-381	CLIP-seq
MIRT738321	hsa-miR-3973	CLIP-seq
MIRT916388	hsa-miR-4324	CLIP-seq
MIRT916389	hsa-miR-4468	CLIP-seq
MIRT738325	hsa-miR-4494	CLIP-seq
MIRT916390	hsa-miR-4495	CLIP-seq
MIRT916391	hsa-miR-455-3p	CLIP-seq
MIRT916392	hsa-miR-4666-3p	CLIP-seq
MIRT916393	hsa-miR-4669	CLIP-seq
MIRT916394	hsa-miR-4677-5p	CLIP-seq
MIRT916395	hsa-miR-4687-5p	CLIP-seq
MIRT916396	hsa-miR-4694-3p	CLIP-seq
MIRT916397	hsa-miR-4699-3p	CLIP-seq
MIRT916398	hsa-miR-4775	CLIP-seq
MIRT916399	hsa-miR-494	CLIP-seq
MIRT738324	hsa-miR-499a-5p	CLIP-seq
MIRT916400	hsa-miR-500a	CLIP-seq
MIRT916401	hsa-miR-501-5p	CLIP-seq
MIRT916402	hsa-miR-5096	CLIP-seq
MIRT738299	hsa-miR-512-3p	CLIP-seq
MIRT738318	hsa-miR-519d	CLIP-seq
MIRT738308	hsa-miR-520b	CLIP-seq
MIRT738300	hsa-miR-520c-3p	CLIP-seq
MIRT738309	hsa-miR-520d-3p	CLIP-seq
MIRT738306	hsa-miR-520e	CLIP-seq
MIRT738320	hsa-miR-520g	CLIP-seq
MIRT738319	hsa-miR-520h	CLIP-seq
MIRT916403	hsa-miR-522	CLIP-seq
MIRT916404	hsa-miR-544b	CLIP-seq
MIRT916405	hsa-miR-564	CLIP-seq
MIRT916406	hsa-miR-590-3p	CLIP-seq
MIRT916407	hsa-miR-603	CLIP-seq
MIRT738316	hsa-miR-93	CLIP-seq
MIRT738312	hsa-miR-106a	CLIP-seq
MIRT738315	hsa-miR-106b	CLIP-seq
MIRT738313	hsa-miR-17	CLIP-seq
MIRT738314	hsa-miR-20a	CLIP-seq
MIRT738317	hsa-miR-20b	CLIP-seq
MIRT738310	hsa-miR-302a	CLIP-seq
MIRT738301	hsa-miR-302b	CLIP-seq
MIRT738303	hsa-miR-302c	CLIP-seq
MIRT738304	hsa-miR-302d	CLIP-seq
MIRT738322	hsa-miR-371-5p	CLIP-seq
MIRT738323	hsa-miR-371b-5p	CLIP-seq
MIRT738302	hsa-miR-372	CLIP-seq
MIRT738307	hsa-miR-373	CLIP-seq
MIRT738321	hsa-miR-3973	CLIP-seq
MIRT738325	hsa-miR-4494	CLIP-seq
MIRT738324	hsa-miR-499a-5p	CLIP-seq
MIRT738318	hsa-miR-519d	CLIP-seq
MIRT738308	hsa-miR-520b	CLIP-seq
MIRT738300	hsa-miR-520c-3p	CLIP-seq
MIRT738309	hsa-miR-520d-3p	CLIP-seq
MIRT738306	hsa-miR-520e	CLIP-seq
MIRT738320	hsa-miR-520g	CLIP-seq
MIRT738319	hsa-miR-520h	CLIP-seq
MIRT738316	hsa-miR-93	CLIP-seq
MIRT738312	hsa-miR-106a	CLIP-seq
MIRT738315	hsa-miR-106b	CLIP-seq
MIRT738313	hsa-miR-17	CLIP-seq
MIRT738314	hsa-miR-20a	CLIP-seq
MIRT738317	hsa-miR-20b	CLIP-seq
MIRT738310	hsa-miR-302a	CLIP-seq
MIRT738301	hsa-miR-302b	CLIP-seq
MIRT738303	hsa-miR-302c	CLIP-seq
MIRT738304	hsa-miR-302d	CLIP-seq
MIRT738322	hsa-miR-371-5p	CLIP-seq
MIRT738323	hsa-miR-371b-5p	CLIP-seq
MIRT738302	hsa-miR-372	CLIP-seq
MIRT738307	hsa-miR-373	CLIP-seq
MIRT738321	hsa-miR-3973	CLIP-seq
MIRT1971814	hsa-miR-4294	CLIP-seq
MIRT738325	hsa-miR-4494	CLIP-seq
MIRT738324	hsa-miR-499a-5p	CLIP-seq
MIRT738299	hsa-miR-512-3p	CLIP-seq
MIRT738318	hsa-miR-519d	CLIP-seq
MIRT738308	hsa-miR-520b	CLIP-seq
MIRT738300	hsa-miR-520c-3p	CLIP-seq
MIRT738309	hsa-miR-520d-3p	CLIP-seq
MIRT738306	hsa-miR-520e	CLIP-seq
MIRT738320	hsa-miR-520g	CLIP-seq
MIRT738319	hsa-miR-520h	CLIP-seq
MIRT1971815	hsa-miR-924	CLIP-seq
MIRT738316	hsa-miR-93	CLIP-seq
MIRT738312	hsa-miR-106a	CLIP-seq
MIRT738315	hsa-miR-106b	CLIP-seq
MIRT916378	hsa-miR-1200	CLIP-seq
MIRT738313	hsa-miR-17	CLIP-seq
MIRT916380	hsa-miR-1910	CLIP-seq
MIRT916381	hsa-miR-203	CLIP-seq
MIRT738314	hsa-miR-20a	CLIP-seq
MIRT738317	hsa-miR-20b	CLIP-seq
MIRT916382	hsa-miR-2116	CLIP-seq
MIRT2207490	hsa-miR-299-3p	CLIP-seq
MIRT738310	hsa-miR-302a	CLIP-seq
MIRT738301	hsa-miR-302b	CLIP-seq
MIRT738303	hsa-miR-302c	CLIP-seq
MIRT738304	hsa-miR-302d	CLIP-seq
MIRT738322	hsa-miR-371-5p	CLIP-seq
MIRT738323	hsa-miR-371b-5p	CLIP-seq
MIRT738302	hsa-miR-372	CLIP-seq
MIRT738307	hsa-miR-373	CLIP-seq
MIRT738321	hsa-miR-3973	CLIP-seq
MIRT916388	hsa-miR-4324	CLIP-seq
MIRT916389	hsa-miR-4468	CLIP-seq
MIRT738325	hsa-miR-4494	CLIP-seq
MIRT916391	hsa-miR-455-3p	CLIP-seq
MIRT2207491	hsa-miR-4666-5p	CLIP-seq
MIRT916393	hsa-miR-4669	CLIP-seq
MIRT916394	hsa-miR-4677-5p	CLIP-seq
MIRT2207492	hsa-miR-4690-5p	CLIP-seq
MIRT916396	hsa-miR-4694-3p	CLIP-seq
MIRT916397	hsa-miR-4699-3p	CLIP-seq
MIRT738324	hsa-miR-499a-5p	CLIP-seq
MIRT738299	hsa-miR-512-3p	CLIP-seq
MIRT738318	hsa-miR-519d	CLIP-seq
MIRT738308	hsa-miR-520b	CLIP-seq
MIRT738300	hsa-miR-520c-3p	CLIP-seq
MIRT738309	hsa-miR-520d-3p	CLIP-seq
MIRT738306	hsa-miR-520e	CLIP-seq
MIRT738320	hsa-miR-520g	CLIP-seq
MIRT738319	hsa-miR-520h	CLIP-seq
MIRT916403	hsa-miR-522	CLIP-seq
MIRT916404	hsa-miR-544b	CLIP-seq
MIRT2207493	hsa-miR-657	CLIP-seq
MIRT738316	hsa-miR-93	CLIP-seq
MIRT738312	hsa-miR-106a	CLIP-seq
MIRT738315	hsa-miR-106b	CLIP-seq
MIRT738313	hsa-miR-17	CLIP-seq
MIRT738314	hsa-miR-20a	CLIP-seq
MIRT738317	hsa-miR-20b	CLIP-seq
MIRT738310	hsa-miR-302a	CLIP-seq
MIRT738301	hsa-miR-302b	CLIP-seq
MIRT738303	hsa-miR-302c	CLIP-seq
MIRT738304	hsa-miR-302d	CLIP-seq
MIRT738322	hsa-miR-371-5p	CLIP-seq
MIRT738323	hsa-miR-371b-5p	CLIP-seq
MIRT738302	hsa-miR-372	CLIP-seq
MIRT738307	hsa-miR-373	CLIP-seq
MIRT738321	hsa-miR-3973	CLIP-seq
MIRT738325	hsa-miR-4494	CLIP-seq
MIRT738324	hsa-miR-499a-5p	CLIP-seq
MIRT738299	hsa-miR-512-3p	CLIP-seq
MIRT738318	hsa-miR-519d	CLIP-seq
MIRT738308	hsa-miR-520b	CLIP-seq
MIRT738300	hsa-miR-520c-3p	CLIP-seq
MIRT738309	hsa-miR-520d-3p	CLIP-seq
MIRT738306	hsa-miR-520e	CLIP-seq
MIRT738320	hsa-miR-520g	CLIP-seq
MIRT738319	hsa-miR-520h	CLIP-seq
MIRT738316	hsa-miR-93	CLIP-seq
MIRT738312	hsa-miR-106a	CLIP-seq
MIRT738315	hsa-miR-106b	CLIP-seq
MIRT738313	hsa-miR-17	CLIP-seq
MIRT738314	hsa-miR-20a	CLIP-seq
MIRT738317	hsa-miR-20b	CLIP-seq
MIRT738310	hsa-miR-302a	CLIP-seq
MIRT738301	hsa-miR-302b	CLIP-seq
MIRT738303	hsa-miR-302c	CLIP-seq
MIRT738304	hsa-miR-302d	CLIP-seq
MIRT738322	hsa-miR-371-5p	CLIP-seq
MIRT738323	hsa-miR-371b-5p	CLIP-seq
MIRT738302	hsa-miR-372	CLIP-seq
MIRT738307	hsa-miR-373	CLIP-seq
MIRT738321	hsa-miR-3973	CLIP-seq
MIRT738325	hsa-miR-4494	CLIP-seq
MIRT738324	hsa-miR-499a-5p	CLIP-seq
MIRT738299	hsa-miR-512-3p	CLIP-seq
MIRT738318	hsa-miR-519d	CLIP-seq
MIRT738308	hsa-miR-520b	CLIP-seq
MIRT738300	hsa-miR-520c-3p	CLIP-seq
MIRT738309	hsa-miR-520d-3p	CLIP-seq
MIRT738306	hsa-miR-520e	CLIP-seq
MIRT738320	hsa-miR-520g	CLIP-seq
MIRT738319	hsa-miR-520h	CLIP-seq
MIRT738316	hsa-miR-93	CLIP-seq
MIRT916380	hsa-miR-1910	CLIP-seq
MIRT738310	hsa-miR-302a	CLIP-seq
MIRT738301	hsa-miR-302b	CLIP-seq
MIRT738303	hsa-miR-302c	CLIP-seq
MIRT738304	hsa-miR-302d	CLIP-seq
MIRT738302	hsa-miR-372	CLIP-seq
MIRT738307	hsa-miR-373	CLIP-seq
MIRT2510710	hsa-miR-4473	CLIP-seq
MIRT2510711	hsa-miR-4480	CLIP-seq
MIRT916391	hsa-miR-455-3p	CLIP-seq
MIRT2510712	hsa-miR-4641	CLIP-seq
MIRT2510713	hsa-miR-4671-3p	CLIP-seq
MIRT916395	hsa-miR-4687-5p	CLIP-seq
MIRT738299	hsa-miR-512-3p	CLIP-seq
MIRT738308	hsa-miR-520b	CLIP-seq
MIRT738300	hsa-miR-520c-3p	CLIP-seq
MIRT738309	hsa-miR-520d-3p	CLIP-seq
MIRT738306	hsa-miR-520e	CLIP-seq
MIRT2510714	hsa-miR-542-5p	CLIP-seq
MIRT916405	hsa-miR-564	CLIP-seq
MIRT2510715	hsa-miR-939	CLIP-seq
MIRT916380	hsa-miR-1910	CLIP-seq
MIRT738310	hsa-miR-302a	CLIP-seq
MIRT738301	hsa-miR-302b	CLIP-seq
MIRT738303	hsa-miR-302c	CLIP-seq
MIRT738304	hsa-miR-302d	CLIP-seq
MIRT738302	hsa-miR-372	CLIP-seq
MIRT738307	hsa-miR-373	CLIP-seq
MIRT2510710	hsa-miR-4473	CLIP-seq
MIRT2510711	hsa-miR-4480	CLIP-seq
MIRT916391	hsa-miR-455-3p	CLIP-seq
MIRT2510712	hsa-miR-4641	CLIP-seq
MIRT2510713	hsa-miR-4671-3p	CLIP-seq
MIRT916395	hsa-miR-4687-5p	CLIP-seq
MIRT738299	hsa-miR-512-3p	CLIP-seq
MIRT738308	hsa-miR-520b	CLIP-seq
MIRT738300	hsa-miR-520c-3p	CLIP-seq
MIRT738309	hsa-miR-520d-3p	CLIP-seq
MIRT738306	hsa-miR-520e	CLIP-seq
MIRT2510714	hsa-miR-542-5p	CLIP-seq
MIRT916405	hsa-miR-564	CLIP-seq
MIRT2510715	hsa-miR-939	CLIP-seq

Gene ontology (GO) Show/Hide all (59)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IDA	28890335
GO:0000082	Process	G1/S transition of mitotic cell cycle	IEA
GO:0000082	Process	G1/S transition of mitotic cell cycle	TAS	8681378
GO:0005515	Function	Protein binding	IPI	11961546, 12504025, 12504026, 12609982, 14685242, 15537541, 16051867, 16278047, 16797541, 16861300, 16880511, 17290223, 17318178, 17914462, 18203720, 18239684, 18264111, 18274552, 18354482, 18644861, 18667692, 18723677, 18775313, 18805092, 18818696, 18826954, 18929646, 19615732, 197
GO:0005634	Component	Nucleus	IC	15145941
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IC	11961546
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	19617556
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0006513	Process	Protein monoubiquitination	IEA
GO:0006915	Process	Apoptotic process	IDA	34480022
GO:0006915	Process	Apoptotic process	IEA
GO:0007040	Process	Lysosome organization	IDA	24448649
GO:0008283	Process	Cell population proliferation	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0010507	Process	Negative regulation of autophagy	IDA	32561715
GO:0010508	Process	Positive regulation of autophagy	IDA	22017875, 22017876
GO:0016567	Process	Protein ubiquitination	IBA
GO:0016567	Process	Protein ubiquitination	IDA	15103331
GO:0016567	Process	Protein ubiquitination	IEA
GO:0019005	Component	SCF ubiquitin ligase complex	IBA
GO:0019005	Component	SCF ubiquitin ligase complex	IDA	11956208, 15103331, 15145941, 16880511, 20596027, 21572392, 21725316, 23263282, 25585578, 28007894, 31413110
GO:0019005	Component	SCF ubiquitin ligase complex	IEA
GO:0019005	Component	SCF ubiquitin ligase complex	ISS
GO:0030674	Function	Protein-macromolecule adaptor activity	IBA
GO:0031146	Process	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IBA
GO:0031146	Process	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IDA	22017875, 22017876, 36608670
GO:0031146	Process	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IDA	11961546, 15103331, 22017875, 22017876, 36608670
GO:0031146	Process	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IEA
GO:0031146	Process	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	ISS
GO:0031461	Component	Cullin-RING ubiquitin ligase complex	IDA	22405651
GO:0031461	Component	Cullin-RING ubiquitin ligase complex	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IBA
GO:0031625	Function	Ubiquitin protein ligase binding	IDA	11961546
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0031669	Process	Cellular response to nutrient levels	IDA	32561715
GO:0034599	Process	Cellular response to oxidative stress	IDA	39880951
GO:0034599	Process	Cellular response to oxidative stress	IDA	39880951
GO:0038202	Process	TORC1 signaling	IDA	12087098
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	10644755
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	10644755
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IDA	25038658
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IC	36646384
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	10230407, 10644755, 34480022, 36646384, 39880951
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	10644755, 15145941, 34480022, 39880951
GO:0070936	Process	Protein K48-linked ubiquitination	IC	36646384
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	15103331, 34480022, 36646384
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	15145941, 23263282
GO:0070936	Process	Protein K48-linked ubiquitination	IEA
GO:0070936	Process	Protein K48-linked ubiquitination	IEA
GO:0097193	Process	Intrinsic apoptotic signaling pathway	IEA
GO:0097193	Process	Intrinsic apoptotic signaling pathway	TAS	8681378
GO:0140374	Process	Antiviral innate immune response	IDA	19008854, 19416887, 21642987
GO:0160072	Function	Ubiquitin ligase complex scaffold activity	IDA	10644755, 15145941, 22017875, 22017876, 23263282, 36608670, 39880951
GO:0160072	Function	Ubiquitin ligase complex scaffold activity	IEA
GO:1904037	Process	Positive regulation of epithelial cell apoptotic process	IDA	34480022
GO:1904262	Process	Negative regulation of TORC1 signaling	IDA	22017875, 22017876
GO:1990452	Component	Parkin-FBXW7-Cul1 ubiquitin ligase complex	IPI	12628165

Other IDs

• MIM: 603134
• HGNC: 2551
• e!Ensembl: ENSG00000055130

Protein

• UniProt ID: Q13616
• Protein name: Cullin-1 (CUL-1)
• Protein function: Core component of multiple cullin-RING-based SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination of proteins involved in cell cycle progression, signal transduction and transcription. SCF complex
• PDB: 1LDJ , 1LDK , 1U6G , 3RTR , 3TDU , 3TDZ , 4F52 , 4P5O , 5V89 , 6TTU , 6WCQ , 7B5L , 7B5M , 7B5N , 7B5R , 7B5S , 7Z8R , 7Z8T , 7Z8V , 7ZBW , 7ZBZ , 8CAF , 8CDJ , 8CDK , 8OR0 , 8OR2 , 8OR3 , 8OR4 , 8UA6 , 8UBT , 8UBU , 8VVY , 9JKB , 9KBD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00888	Cullin	21 → 670	Cullin family	Family
  PF10557	Cullin_Nedd8	706 → 768	Cullin protein neddylation domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in lung fibroblasts. {ECO:0000269|PubMed:9663463}.
• Sequence:

  MSSTRSQNPHGLKQIGLDQIWDDLRAGIQQVYTRQSMAKSRYMELYTHVYNYCTSVHQSN
  QARGAGVPPSKSKKGQTPGGAQFVGLELYKRLKEFLKNYLTNLLKDGEDLMDESVLKFYT
  QQWEDYRFSSKVLNGICAYLNRHWVRRECDEGRKGIYEIYSLALVTWRDCLFRPLNKQVT
  NAVLKLIEKERNGETINTRLISGVVQSYVELGLNEDDAFAKGPTLTVYKESFESQFLADT
  ERFYTRESTEFLQQNPVTEYMKKAEARLLEEQRRVQVYLHESTQDELARKCEQVLIEKHL
  EIFHTEFQNLLDADKNEDLGRMYNLVSRIQDGLGELKKLLETHIHNQGLAAIEKCGEAAL
  NDPKMYVQTVLDVHKKYNALVMSAFNNDAGFVAALDKACGRFINNNAVTKMAQSSSKSPE
  LLARYCDSLLKKSSKNPEEAELEDTLNQVMVVFKYIEDKDVFQKFYAKMLAKRLVHQNSA
  SDDAEASMISKLKQACGFEYTSKLQRMFQDIGVSKDLNEQFKKHLTNSEPLDLDFSIQVL
  SSGSWPFQQSCTFALPSELERSYQRFTAFYASRHSGRKLTWLYQLSKGELVTNCFKNRYT
  LQASTFQMAILLQYNTEDAYTVQQLTDSTQIKMDILAQVLQILLKSKLLVLEDENANVDE
  VELKPDTLIKLYLGYKNKKLRVNINVPMKTEQKQEQETTHKNIEEDRKLLIQAAIVRIMK
  MRKVLKHQQLLGEVLTQLSSRFKPRVPVIKKCIDILIEKEYLERVDGEKDTYSYLA

• Sequence length: 776

Pathways

KEGG Pathway	Reactome Pathway
Cell cycle	Activation of NF-kappaB in B cells
Oocyte meiosis	Prolactin receptor signaling
Ubiquitin mediated proteolysis	SCF-beta-TrCP mediated degradation of Emi1
Protein processing in endoplasmic reticulum	SCF(Skp2)-mediated degradation of p27/p21
Wnt signaling pathway	Degradation of beta-catenin by the destruction complex
Hedgehog signaling pathway	Downstream TCR signaling
TGF-beta signaling pathway	Regulation of PLK1 Activity at G2/M Transition
Circadian rhythm	Constitutive Signaling by NOTCH1 PEST Domain Mutants
Shigellosis	Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling
Human immunodeficiency virus 1 infection	FCERI mediated NF-kB activation
Pathways in cancer	Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
	Dectin-1 mediated noncanonical NF-kB signaling
	CLEC7A (Dectin-1) signaling
	Degradation of GLI1 by the proteasome
	GLI3 is processed to GLI3R by the proteasome
	NIK-->noncanonical NF-kB signaling
	MAP3K8 (TPL2)-dependent MAPK1/3 activation
	Orc1 removal from chromatin
	Cyclin D associated events in G1
	FBXL7 down-regulates AURKA during mitotic entry and in early mitosis
	Regulation of RUNX2 expression and activity
	Neddylation
	Interleukin-1 signaling
	Iron uptake and transport
	Antigen processing: Ubiquitination & Proteasome degradation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (8)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	28067908, 37156999	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	28067908, 37156999	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STEVENS-JOHNSON SYNDROME	—	CTD, Disgenet CTD, Disgenet	25811541	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	32541925	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	28067908, 37156999	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (63)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenomatous Polyps	Adenomatous Polyposis	BEFREE	29475926		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	33754896	Stimulate	★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	25201578		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	32871949	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23592700, 27312587, 30578411, 31175550		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23592700, 31175550	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	9736735	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	17823919	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26097587	Associate	★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	23429288		★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	33731859	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30402022		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28560438, 29475926		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28269751, 29475926, 34237211	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27449035		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	28067908		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27312587		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27312587		★☆☆☆☆ Found in Text Mining only
Drug-Induced Stevens Johnson Syndrome	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★☆☆☆☆ Found in Text Mining only
Exostoses	Exostoses	Pubtator	34582124	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25201578		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25201578		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	25201578		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	26598692	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	23171848		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34237211	Stimulate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	28067908		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21499307		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	17823919	Associate	★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	23171848, 30685895		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	26463840		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23592700, 27312587, 30578411, 31175550		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	18765951		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25201578, 28560438, 29291974		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	19603524		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30402022		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	20878082, 26717892		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23028750	Associate	★☆☆☆☆ Found in Text Mining only
Mycoplasma-Induced Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23892434, 27312089, 27449035, 28315506, 29496961, 31175550		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31167929		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	21523764		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	28315506	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28315506		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	33731859	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31167929		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30885218	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	32565880	Associate	★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	18765951, 27449035		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27449035		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	15759013, 21738080		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	15759013		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	29547696		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26152289	Associate	★☆☆☆☆ Found in Text Mining only
Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23311997	Associate	★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	12417738		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	32737449	Associate	★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	27769200, 31175550		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31175550	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	27312089		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

FBXO6 1 shared diseaseStevens-johnson syndrome 2 shared pathwaysProtein processing in endoplasmic reticulum, Neddylation 2 shared evidence sourcesCTD (Stevens-johnson syndrome), Disgenet (Stevens-johnson syndrome) Related via 2 shared pathways including Protein processing in endoplasmic reticulum, Neddylation — evidence mostly CTD. CFP 1 shared diseaseStevens-johnson syndrome 2 shared evidence sourcesCTD (Stevens-johnson syndrome), Disgenet (Stevens-johnson syndrome) Related via 1 shared disease including Stevens-johnson syndrome — evidence mostly CTD. COPS5 1 shared diseaseStevens-johnson syndrome 1 shared pathwayNeddylation 2 shared evidence sourcesCTD (Stevens-johnson syndrome), Disgenet (Stevens-johnson syndrome) Related via 1 shared disease including Stevens-johnson syndrome — evidence mostly CTD. DERL1 1 shared diseaseStevens-johnson syndrome 1 shared pathwayProtein processing in endoplasmic reticulum 2 shared evidence sourcesCTD (Stevens-johnson syndrome), Disgenet (Stevens-johnson syndrome) Related via 1 shared disease including Stevens-johnson syndrome — evidence mostly CTD. NUCB1 1 shared diseaseStevens-johnson syndrome 2 shared evidence sourcesCTD (Stevens-johnson syndrome), Disgenet (Stevens-johnson syndrome) Related via 1 shared disease including Stevens-johnson syndrome — evidence mostly CTD.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
FBXO6	1	["Stevens-johnson syndrome"]	2	["Protein processing in endoplasmic reticulum","Neddylation"]	2	["CTD (Stevens-johnson syndrome)","Disgenet (Stevens-johnson syndrome)"]
CFP	1	["Stevens-johnson syndrome"]	0	[]	2	["CTD (Stevens-johnson syndrome)","Disgenet (Stevens-johnson syndrome)"]
COPS5	1	["Stevens-johnson syndrome"]	1	["Neddylation"]	2	["CTD (Stevens-johnson syndrome)","Disgenet (Stevens-johnson syndrome)"]
DERL1	1	["Stevens-johnson syndrome"]	1	["Protein processing in endoplasmic reticulum"]	2	["CTD (Stevens-johnson syndrome)","Disgenet (Stevens-johnson syndrome)"]
NUCB1	1	["Stevens-johnson syndrome"]	0	[]	2	["CTD (Stevens-johnson syndrome)","Disgenet (Stevens-johnson syndrome)"]

Diseases Linked via Similar Genes

Hepatocellular carcinoma Linked via 2 of 5 related genesCFP, COPS5 Colorectal cancer Linked via 1 of 5 related genesCOPS5 Oligodendroglioma Linked via 1 of 5 related genesNUCB1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Hepatocellular carcinoma	2	["CFP","COPS5"]
Colorectal cancer	1	["COPS5"]
Oligodendroglioma	1	["NUCB1"]