CNOT1 (CCR4-NOT transcription complex subunit 1)

Gene

• Entrez ID: 23019
• Gene name: CCR4-NOT transcription complex subunit 1
• Gene symbol: CNOT1
• Synonyms (NCBI Gene): AD-005, CDC39, HPE12, NOT1, NOT1H, VIBOS
• Chromosome: 16
• Chromosome location: 16q21

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1567417422	G>A	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052277	hsa-let-7b-5p	CLASH	23622248
MIRT052277	hsa-let-7b-5p	CLASH	23622248
MIRT050410	hsa-miR-23a-3p	CLASH	23622248
MIRT049821	hsa-miR-92a-3p	CLASH	23622248
MIRT046901	hsa-miR-221-3p	CLASH	23622248
MIRT045861	hsa-miR-128-3p	CLASH	23622248
MIRT044167	hsa-miR-130b-3p	CLASH	23622248
MIRT042519	hsa-miR-423-3p	CLASH	23622248
MIRT041221	hsa-miR-193b-3p	CLASH	23622248
MIRT041221	hsa-miR-193b-3p	CLASH	23622248
MIRT039634	hsa-miR-615-3p	CLASH	23622248
MIRT039422	hsa-miR-421	CLASH	23622248
MIRT039246	hsa-miR-454-3p	CLASH	23622248
MIRT039055	hsa-miR-766-3p	CLASH	23622248
MIRT038795	hsa-miR-93-3p	CLASH	23622248
MIRT037620	hsa-miR-744-5p	CLASH	23622248
MIRT440920	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440920	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT900275	hsa-miR-1207-3p	CLIP-seq
MIRT900276	hsa-miR-22	CLIP-seq
MIRT900277	hsa-miR-27a	CLIP-seq
MIRT900278	hsa-miR-27b	CLIP-seq
MIRT900279	hsa-miR-300	CLIP-seq
MIRT900280	hsa-miR-3145-3p	CLIP-seq
MIRT900281	hsa-miR-3153	CLIP-seq
MIRT900282	hsa-miR-3160-3p	CLIP-seq
MIRT900283	hsa-miR-3180-5p	CLIP-seq
MIRT900284	hsa-miR-3187-3p	CLIP-seq
MIRT900285	hsa-miR-3613-3p	CLIP-seq
MIRT900286	hsa-miR-3662	CLIP-seq
MIRT900287	hsa-miR-381	CLIP-seq
MIRT900288	hsa-miR-3926	CLIP-seq
MIRT900289	hsa-miR-3941	CLIP-seq
MIRT900290	hsa-miR-4300	CLIP-seq
MIRT900291	hsa-miR-4327	CLIP-seq
MIRT900292	hsa-miR-4435	CLIP-seq
MIRT900293	hsa-miR-4446-3p	CLIP-seq
MIRT900294	hsa-miR-4462	CLIP-seq
MIRT900295	hsa-miR-4492	CLIP-seq
MIRT900296	hsa-miR-4498	CLIP-seq
MIRT900297	hsa-miR-4505	CLIP-seq
MIRT900298	hsa-miR-4642	CLIP-seq
MIRT900299	hsa-miR-4646-5p	CLIP-seq
MIRT900300	hsa-miR-466	CLIP-seq
MIRT900301	hsa-miR-4668-5p	CLIP-seq
MIRT900302	hsa-miR-4672	CLIP-seq
MIRT900303	hsa-miR-4698	CLIP-seq
MIRT900304	hsa-miR-4699-3p	CLIP-seq
MIRT900305	hsa-miR-4701-5p	CLIP-seq
MIRT900306	hsa-miR-4708-5p	CLIP-seq
MIRT900307	hsa-miR-4711-5p	CLIP-seq
MIRT900308	hsa-miR-4731-3p	CLIP-seq
MIRT900309	hsa-miR-4753-3p	CLIP-seq
MIRT900310	hsa-miR-4756-3p	CLIP-seq
MIRT900311	hsa-miR-4766-5p	CLIP-seq
MIRT900312	hsa-miR-4768-5p	CLIP-seq
MIRT900313	hsa-miR-4799-5p	CLIP-seq
MIRT900314	hsa-miR-4801	CLIP-seq
MIRT900315	hsa-miR-513a-3p	CLIP-seq
MIRT900316	hsa-miR-513a-5p	CLIP-seq
MIRT900317	hsa-miR-520a-5p	CLIP-seq
MIRT900318	hsa-miR-525-5p	CLIP-seq
MIRT900319	hsa-miR-548s	CLIP-seq
MIRT900320	hsa-miR-586	CLIP-seq
MIRT900321	hsa-miR-588	CLIP-seq
MIRT900322	hsa-miR-762	CLIP-seq
MIRT900323	hsa-miR-873	CLIP-seq
MIRT900324	hsa-miR-920	CLIP-seq
MIRT900325	hsa-miR-939	CLIP-seq
MIRT1967098	hsa-miR-1	CLIP-seq
MIRT1967099	hsa-miR-1225-3p	CLIP-seq
MIRT1967100	hsa-miR-1233	CLIP-seq
MIRT1967101	hsa-miR-1244	CLIP-seq
MIRT1967102	hsa-miR-1250	CLIP-seq
MIRT1967103	hsa-miR-1266	CLIP-seq
MIRT1967104	hsa-miR-1275	CLIP-seq
MIRT1967105	hsa-miR-129-3p	CLIP-seq
MIRT1967106	hsa-miR-1298	CLIP-seq
MIRT1967107	hsa-miR-1343	CLIP-seq
MIRT1967108	hsa-miR-199a-3p	CLIP-seq
MIRT1967109	hsa-miR-199b-3p	CLIP-seq
MIRT1967110	hsa-miR-204	CLIP-seq
MIRT1967111	hsa-miR-206	CLIP-seq
MIRT1967112	hsa-miR-211	CLIP-seq
MIRT1967113	hsa-miR-223	CLIP-seq
MIRT900277	hsa-miR-27a	CLIP-seq
MIRT900278	hsa-miR-27b	CLIP-seq
MIRT1967114	hsa-miR-3129-5p	CLIP-seq
MIRT900280	hsa-miR-3145-3p	CLIP-seq
MIRT900281	hsa-miR-3153	CLIP-seq
MIRT900282	hsa-miR-3160-3p	CLIP-seq
MIRT1967115	hsa-miR-3174	CLIP-seq
MIRT1967116	hsa-miR-3175	CLIP-seq
MIRT900284	hsa-miR-3187-3p	CLIP-seq
MIRT1967117	hsa-miR-323b-3p	CLIP-seq
MIRT1967118	hsa-miR-337-3p	CLIP-seq
MIRT900285	hsa-miR-3613-3p	CLIP-seq
MIRT1967119	hsa-miR-3617	CLIP-seq
MIRT900286	hsa-miR-3662	CLIP-seq
MIRT1967120	hsa-miR-3664-3p	CLIP-seq
MIRT1967121	hsa-miR-3685	CLIP-seq
MIRT1967122	hsa-miR-3688-3p	CLIP-seq
MIRT1967123	hsa-miR-3690	CLIP-seq
MIRT1967124	hsa-miR-384	CLIP-seq
MIRT900288	hsa-miR-3926	CLIP-seq
MIRT1967125	hsa-miR-3937	CLIP-seq
MIRT1967126	hsa-miR-3938	CLIP-seq
MIRT900289	hsa-miR-3941	CLIP-seq
MIRT1967127	hsa-miR-4254	CLIP-seq
MIRT1967128	hsa-miR-4259	CLIP-seq
MIRT1967129	hsa-miR-4260	CLIP-seq
MIRT1967130	hsa-miR-4261	CLIP-seq
MIRT1967131	hsa-miR-4276	CLIP-seq
MIRT1967132	hsa-miR-4293	CLIP-seq
MIRT1967133	hsa-miR-4320	CLIP-seq
MIRT1967134	hsa-miR-4326	CLIP-seq
MIRT1967135	hsa-miR-4328	CLIP-seq
MIRT900292	hsa-miR-4435	CLIP-seq
MIRT1967136	hsa-miR-4459	CLIP-seq
MIRT900294	hsa-miR-4462	CLIP-seq
MIRT900295	hsa-miR-4492	CLIP-seq
MIRT900296	hsa-miR-4498	CLIP-seq
MIRT900297	hsa-miR-4505	CLIP-seq
MIRT1967137	hsa-miR-4506	CLIP-seq
MIRT1967138	hsa-miR-4518	CLIP-seq
MIRT1967139	hsa-miR-4525	CLIP-seq
MIRT1967140	hsa-miR-4529-5p	CLIP-seq
MIRT1967141	hsa-miR-4638-3p	CLIP-seq
MIRT900299	hsa-miR-4646-5p	CLIP-seq
MIRT900300	hsa-miR-466	CLIP-seq
MIRT1967142	hsa-miR-4665-5p	CLIP-seq
MIRT900301	hsa-miR-4668-5p	CLIP-seq
MIRT900302	hsa-miR-4672	CLIP-seq
MIRT1967143	hsa-miR-4680-5p	CLIP-seq
MIRT900303	hsa-miR-4698	CLIP-seq
MIRT900304	hsa-miR-4699-3p	CLIP-seq
MIRT900305	hsa-miR-4701-5p	CLIP-seq
MIRT1967144	hsa-miR-4703-3p	CLIP-seq
MIRT1967145	hsa-miR-4704-3p	CLIP-seq
MIRT900306	hsa-miR-4708-5p	CLIP-seq
MIRT1967146	hsa-miR-4715-5p	CLIP-seq
MIRT1967147	hsa-miR-4716-5p	CLIP-seq
MIRT1967148	hsa-miR-4723-5p	CLIP-seq
MIRT900308	hsa-miR-4731-3p	CLIP-seq
MIRT1967149	hsa-miR-4733-3p	CLIP-seq
MIRT900309	hsa-miR-4753-3p	CLIP-seq
MIRT1967150	hsa-miR-4755-5p	CLIP-seq
MIRT900310	hsa-miR-4756-3p	CLIP-seq
MIRT900311	hsa-miR-4766-5p	CLIP-seq
MIRT900312	hsa-miR-4768-5p	CLIP-seq
MIRT900313	hsa-miR-4799-5p	CLIP-seq
MIRT900314	hsa-miR-4801	CLIP-seq
MIRT1967151	hsa-miR-486-3p	CLIP-seq
MIRT1967152	hsa-miR-488	CLIP-seq
MIRT900315	hsa-miR-513a-3p	CLIP-seq
MIRT900316	hsa-miR-513a-5p	CLIP-seq
MIRT900319	hsa-miR-548s	CLIP-seq
MIRT1967153	hsa-miR-568	CLIP-seq
MIRT900321	hsa-miR-588	CLIP-seq
MIRT1967154	hsa-miR-596	CLIP-seq
MIRT1967155	hsa-miR-613	CLIP-seq
MIRT1967156	hsa-miR-623	CLIP-seq
MIRT1967157	hsa-miR-625	CLIP-seq
MIRT1967158	hsa-miR-641	CLIP-seq
MIRT1967159	hsa-miR-664	CLIP-seq
MIRT900322	hsa-miR-762	CLIP-seq
MIRT900323	hsa-miR-873	CLIP-seq
MIRT1967160	hsa-miR-921	CLIP-seq
MIRT1967099	hsa-miR-1225-3p	CLIP-seq
MIRT1967100	hsa-miR-1233	CLIP-seq
MIRT1967102	hsa-miR-1250	CLIP-seq
MIRT1967104	hsa-miR-1275	CLIP-seq
MIRT1967105	hsa-miR-129-3p	CLIP-seq
MIRT2202743	hsa-miR-1305	CLIP-seq
MIRT1967107	hsa-miR-1343	CLIP-seq
MIRT1967110	hsa-miR-204	CLIP-seq
MIRT1967112	hsa-miR-211	CLIP-seq
MIRT1967113	hsa-miR-223	CLIP-seq
MIRT900281	hsa-miR-3153	CLIP-seq
MIRT900282	hsa-miR-3160-3p	CLIP-seq
MIRT1967115	hsa-miR-3174	CLIP-seq
MIRT1967116	hsa-miR-3175	CLIP-seq
MIRT900283	hsa-miR-3180-5p	CLIP-seq
MIRT1967117	hsa-miR-323b-3p	CLIP-seq
MIRT1967119	hsa-miR-3617	CLIP-seq
MIRT1967123	hsa-miR-3690	CLIP-seq
MIRT2202744	hsa-miR-3924	CLIP-seq
MIRT2202745	hsa-miR-3929	CLIP-seq
MIRT1967127	hsa-miR-4254	CLIP-seq
MIRT2202746	hsa-miR-4312	CLIP-seq
MIRT1967133	hsa-miR-4320	CLIP-seq
MIRT1967134	hsa-miR-4326	CLIP-seq
MIRT900291	hsa-miR-4327	CLIP-seq
MIRT1967135	hsa-miR-4328	CLIP-seq
MIRT2202747	hsa-miR-4419b	CLIP-seq
MIRT1967136	hsa-miR-4459	CLIP-seq
MIRT900294	hsa-miR-4462	CLIP-seq
MIRT2202748	hsa-miR-4478	CLIP-seq
MIRT1967137	hsa-miR-4506	CLIP-seq
MIRT2202749	hsa-miR-4520a-3p	CLIP-seq
MIRT2202750	hsa-miR-4520b-3p	CLIP-seq
MIRT1967139	hsa-miR-4525	CLIP-seq
MIRT2202751	hsa-miR-4528	CLIP-seq
MIRT1967141	hsa-miR-4638-3p	CLIP-seq
MIRT1967142	hsa-miR-4665-5p	CLIP-seq
MIRT900301	hsa-miR-4668-5p	CLIP-seq
MIRT1967143	hsa-miR-4680-5p	CLIP-seq
MIRT2202752	hsa-miR-4695-5p	CLIP-seq
MIRT900303	hsa-miR-4698	CLIP-seq
MIRT1967145	hsa-miR-4704-3p	CLIP-seq
MIRT900306	hsa-miR-4708-5p	CLIP-seq
MIRT1967147	hsa-miR-4716-5p	CLIP-seq
MIRT1967148	hsa-miR-4723-5p	CLIP-seq
MIRT2202753	hsa-miR-4733-5p	CLIP-seq
MIRT900309	hsa-miR-4753-3p	CLIP-seq
MIRT1967150	hsa-miR-4755-5p	CLIP-seq
MIRT900310	hsa-miR-4756-3p	CLIP-seq
MIRT900311	hsa-miR-4766-5p	CLIP-seq
MIRT900312	hsa-miR-4768-5p	CLIP-seq
MIRT2202754	hsa-miR-4786-5p	CLIP-seq
MIRT2202755	hsa-miR-485-5p	CLIP-seq
MIRT1967152	hsa-miR-488	CLIP-seq
MIRT900317	hsa-miR-520a-5p	CLIP-seq
MIRT900318	hsa-miR-525-5p	CLIP-seq
MIRT2202756	hsa-miR-616	CLIP-seq
MIRT1967156	hsa-miR-623	CLIP-seq
MIRT1967157	hsa-miR-625	CLIP-seq
MIRT1967158	hsa-miR-641	CLIP-seq
MIRT2202757	hsa-miR-659	CLIP-seq
MIRT2202758	hsa-miR-769-5p	CLIP-seq
MIRT900323	hsa-miR-873	CLIP-seq
MIRT1967160	hsa-miR-921	CLIP-seq
MIRT1967106	hsa-miR-1298	CLIP-seq
MIRT900284	hsa-miR-3187-3p	CLIP-seq
MIRT1967131	hsa-miR-4276	CLIP-seq
MIRT1967132	hsa-miR-4293	CLIP-seq
MIRT900294	hsa-miR-4462	CLIP-seq
MIRT1967137	hsa-miR-4506	CLIP-seq
MIRT1967140	hsa-miR-4529-5p	CLIP-seq
MIRT900306	hsa-miR-4708-5p	CLIP-seq
MIRT900310	hsa-miR-4756-3p	CLIP-seq
MIRT1967154	hsa-miR-596	CLIP-seq
MIRT1967159	hsa-miR-664	CLIP-seq
MIRT900277	hsa-miR-27a	CLIP-seq
MIRT900278	hsa-miR-27b	CLIP-seq
MIRT900280	hsa-miR-3145-3p	CLIP-seq
MIRT900286	hsa-miR-3662	CLIP-seq
MIRT900303	hsa-miR-4698	CLIP-seq
MIRT900313	hsa-miR-4799-5p	CLIP-seq
MIRT900315	hsa-miR-513a-3p	CLIP-seq
MIRT900316	hsa-miR-513a-5p	CLIP-seq
MIRT2505654	hsa-miR-105	CLIP-seq
MIRT2505655	hsa-miR-1225-5p	CLIP-seq
MIRT1967103	hsa-miR-1266	CLIP-seq
MIRT2505656	hsa-miR-3132	CLIP-seq
MIRT1967120	hsa-miR-3664-3p	CLIP-seq
MIRT2505657	hsa-miR-3673	CLIP-seq
MIRT1967122	hsa-miR-3688-3p	CLIP-seq
MIRT1967125	hsa-miR-3937	CLIP-seq
MIRT1967130	hsa-miR-4261	CLIP-seq
MIRT2505658	hsa-miR-4426	CLIP-seq
MIRT2505659	hsa-miR-4451	CLIP-seq
MIRT900294	hsa-miR-4462	CLIP-seq
MIRT1967138	hsa-miR-4518	CLIP-seq
MIRT2505660	hsa-miR-4647	CLIP-seq
MIRT2505661	hsa-miR-4662b	CLIP-seq
MIRT2505662	hsa-miR-4694-3p	CLIP-seq
MIRT900303	hsa-miR-4698	CLIP-seq
MIRT900306	hsa-miR-4708-5p	CLIP-seq
MIRT900310	hsa-miR-4756-3p	CLIP-seq
MIRT1967153	hsa-miR-568	CLIP-seq
MIRT2505654	hsa-miR-105	CLIP-seq
MIRT2505655	hsa-miR-1225-5p	CLIP-seq
MIRT1967103	hsa-miR-1266	CLIP-seq
MIRT2505656	hsa-miR-3132	CLIP-seq
MIRT1967120	hsa-miR-3664-3p	CLIP-seq
MIRT2505657	hsa-miR-3673	CLIP-seq
MIRT1967122	hsa-miR-3688-3p	CLIP-seq
MIRT1967125	hsa-miR-3937	CLIP-seq
MIRT1967130	hsa-miR-4261	CLIP-seq
MIRT2505658	hsa-miR-4426	CLIP-seq
MIRT2505659	hsa-miR-4451	CLIP-seq
MIRT1967138	hsa-miR-4518	CLIP-seq
MIRT2505660	hsa-miR-4647	CLIP-seq
MIRT2505661	hsa-miR-4662b	CLIP-seq
MIRT2505662	hsa-miR-4694-3p	CLIP-seq
MIRT900303	hsa-miR-4698	CLIP-seq
MIRT1967153	hsa-miR-568	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	16778766
GO:0000288	Process	Nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay	IBA
GO:0000289	Process	Nuclear-transcribed mRNA poly(A) tail shortening	NAS	31320642
GO:0000932	Component	P-body	IBA
GO:0000932	Component	P-body	IDA	21976065
GO:0000932	Component	P-body	IEA
GO:0000932	Component	P-body	ISS
GO:0001829	Process	Trophectodermal cell differentiation	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0004535	Function	Poly(A)-specific ribonuclease activity	IDA	21976065
GO:0005515	Function	Protein binding	IPI	10637334, 16778766, 17452450, 18377426, 20584987, 21278420, 21981923, 21984185, 22977175, 23232451, 23463101, 23644599, 24736845, 24768540, 25038453, 26496610, 27342281, 30833792, 33961781
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005778	Component	Peroxisomal membrane	HDA	21525035
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006417	Process	Regulation of translation	IEA
GO:0010606	Process	Positive regulation of cytoplasmic mRNA processing body assembly	IDA	21976065
GO:0016020	Component	Membrane	HDA	19946888
GO:0017148	Process	Negative regulation of translation	IDA	24736845
GO:0017148	Process	Negative regulation of translation	IEA
GO:0019904	Function	Protein domain specific binding	IPI	24768540
GO:0030014	Component	CCR4-NOT complex	IDA	19558367
GO:0030014	Component	CCR4-NOT complex	NAS	19558367
GO:0030015	Component	CCR4-NOT core complex	IBA
GO:0030015	Component	CCR4-NOT core complex	IEA
GO:0030331	Function	Nuclear estrogen receptor binding	IDA	16778766
GO:0031047	Process	Regulatory ncRNA-mediated gene silencing	IEA
GO:0033147	Process	Negative regulation of intracellular estrogen receptor signaling pathway	IDA	16778766
GO:0035195	Process	MiRNA-mediated post-transcriptional gene silencing	IDA	23172285, 24768540
GO:0042974	Function	Nuclear retinoic acid receptor binding	IDA	16778766
GO:0048387	Process	Negative regulation of retinoic acid receptor signaling pathway	IDA	16778766
GO:0060090	Function	Molecular adaptor activity	IBA
GO:0060090	Function	Molecular adaptor activity	IDA	22977175
GO:0060213	Process	Positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	IDA	23644599
GO:0060213	Process	Positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	IMP	21278420
GO:0061014	Process	Positive regulation of mRNA catabolic process	IMP	22977175
GO:0070016	Function	Armadillo repeat domain binding	IPI	24768540
GO:1900153	Process	Positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay	IMP	21278420
GO:2000036	Process	Regulation of stem cell population maintenance	IEA
GO:2000036	Process	Regulation of stem cell population maintenance	IMP	22367759

Other IDs

• MIM: 604917
• HGNC: 7877
• e!Ensembl: ENSG00000125107

Protein

• UniProt ID: A5YKK6
• Protein name: CCR4-NOT transcription complex subunit 1 (CCR4-associated factor 1) (Negative regulator of transcription subunit 1 homolog) (NOT1H) (hNOT1)
• Protein function: Scaffolding component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translatio
• PDB: 4C0D, 4CQO, 4CRU, 4CRV, 4CRW, 4CT4, 4CT6, 4CT7, 4GMJ, 4GML, 4J8S, 5ANR, 5FU6, 5FU7, 5ONA, 7VOI, 8BFI, 8FY3, 9FL8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16418	CNOT1_HEAT	500 → 656	CCR4-NOT transcription complex subunit 1 HEAT repeat	Domain
  PF16417	CNOT1_TTP_bind	813 → 1004	CCR4-NOT transcription complex subunit 1 TTP binding domain	Domain
  PF16415	CNOT1_CAF1_bind	1087 → 1313	CCR4-NOT transcription complex subunit 1 CAF1-binding domain	Domain
  PF12842	DUF3819	1387 → 1534	Domain of unknown function (DUF3819)	Domain
  PF04054	Not1	1998 → 2357	CCR4-Not complex component, Not1	Family

• Tissue specificity: TISSUE SPECIFICITY: Strongly expressed in brain, heart, thymus, spleen, kidney, liver, placenta and lung. Weakly expressed in skeletal muscle and colon. {ECO:0000269|PubMed:10637334}.
• Sequence:

  MNLDSLSLALSQISYLVDNLTKKNYRASQQEIQHIVNRHGPEADRHLLRCLFSHVDFSGD
  GKSSGKDFHQTQFLIQECALLITKPNFISTLSYAIDNPLHYQKSLKPAPHLFAQLSKVLK
  LSKVQEVIFGLALLNSSSSDLRGFAAQFIKQKLPDLLRSYIDADVSGNQEGGFQDIAIEV
  LHLLLSHLLFGQKGAFGVGQEQIDAFLKTLRRDFPQERCPVVLAPLLYPEKRDILMDRIL
  PDSGGVAKTMMESSLADFMQEVGYGFCASIEECRNIIVQFGVREVTAAQVARVLGMMART
  HSGLTDGIPLQSISAPGSGIWSDGKDKSDGAQAHTWNVEVLIDVLKELNPSLNFKEVTYE
  LDHPGFQIRDSKGLHNVVYGIQRGLGMEVFPVDLIYRPWKHAEGQLSFIQHSLINPEIFC
  FADYPCHTVATDILKAPPEDDNREIATWKSLDLIESLLRLAEVGQYEQVKQLFSFPIKHC
  PDMLVLALLQINTSWHTLRHELISTLMPIFLGNHPNSAIILHYAWHGQGQSPSIRQLIMH
  AMAEWYMRGEQYDQAKLSRILDVAQDLKALSMLLNGTPFAFVIDLAALASRREYLKLDKW
  LTDKIREHGEPFIQACMTFLKRRCPSILGGLAPEKDQPKSAQLPPETLATMLACLQACAG
  SVSQELSETILTMVANCSNVMNKARQPPPGVMPKGRPPSASSLDAISPVQIDPLAGMTSL
  SIGGSAAPHTQSMQGFPPNLGSAFSTPQSPAKAFPPLSTPNQTTAFSGIGGLSSQLPVGG
  LGTGSLTGIGTGALGLPAVNNDPFVQRKLGTSGLNQPTFQQSKMKPSDLSQVWPEANQHF
  SKEIDDEANSYFQRIYNHPPHPTMSVDEVLEMLQRFKDSTIKREREVFNCMLRNLFEEYR
  FFPQYPDKELHITACLFGGIIEKGLVTYMALGLALRYVLEALRKPFGSKMYYFGIAALDR
  FKNRLKDYPQYCQHLASISHFMQFPHHLQEYIEYGQQSRDPPVKMQGSITTPGSIALAQA
  QAQAQVPAKAPLAGQVSTMVTTSTTTTVAKTVTVTRPTGVSFKKDVPPSINTTNIDTLLV
  ATDQTERIVEPPENIQEKIAFIFNNLSQSNMTQKVEELKETVKEEFMPWVSQYLVMKRVS
  IEPNFHSLYSNFLDTLKNPEFNKMVLNETYRNIKVLLTSDKAAANFSDRSLLKNLGHWLG
  MITLAKNKPILHTDLDVKSLLLEAYVKGQQELLYVVPFVAKVLESSIRSVVFRPPNPWTM
  AIMNVLAELHQEHDLKLNLKFEIEVLCKNLALDINELKPGNLLKDKDRLKNLDEQLSAPK
  KDVKQPEELPPITTTTTSTTPATNTTCTATVPPQPQYSYHDINVYSLAGLAPHITLNPTI
  PLFQAHPQLKQCVRQAIERAVQELVHPVVDRSIKIAMTTCEQIVRKDFALDSEESRMRIA
  AHHMMRNLTAGMAMITCREPLLMSISTNLKNSFASALRTASPQQREMMDQAAAQLAQDNC
  ELACCFIQKTAVEKAGPEMDKRLATEFELRKHARQEGRRYCDPVVLTYQAERMPEQIRLK
  VGGVDPKQLAVYEEFARNVPGFLPTNDLSQPTGFLAQPMKQAWATDDVAQIYDKCITELE
  QHLHAIPPTLAMNPQAQALRSLLEVVVLSRNSRDAIAALGLLQKAVEGLLDATSGADADL
  LLRYRECHLLVLKALQDGRAYGSPWCNKQITRCLIECRDEYKYNVEAVELLIRNHLVNMQ
  QYDLHLAQSMENGLNYMAVAFAMQLVKILLVDERSVAHVTEADLFHTIETLMRINAHSRG
  NAPEGLPQLMEVVRSNYEAMIDRAHGGPNFMMHSGISQASEYDDPPGLREKAEYLLREWV
  NLYHSAAAGRDSTKAFSAFVGQMHQQGILKTDDLITRFFRLCTEMCVEISYRAQAEQQHN
  PAANPTMIRAKCYHNLDAFVRLIALLVKHSGEATNTVTKINLLNKVLGIVVGVLLQDHDV
  RQSEFQQLPYHRIFIMLLLELNAPEHVLETINFQTLTAFCNTFHILRPTKAPGFVYAWLE
  LISHRIFIARMLAHTPQQKGWPMYAQLLIDLFKYLAPFLRNVELTKPMQILYKGTLRVLL
  VLLHDFPEFLCDYHYGFCDVIPPNCIQLRNLILSAFPRNMRLPDPFTPNLKVDMLSEINI
  APRILTNFTGVMPPQFKKDLDSYLKTRSPVTFLSDLRSNLQVSNEPGNRYNLQLINALVL
  YVGTQAIAHIHNKGSTPSMSTITHSAHMDIFQNLAVDLDTEGRYLFLNAIANQLRYPNSH
  THYFSCTMLYLFAEANTEAIQEQITRVLLERLIVNRPHPWGLLITFIELIKNPAFKFWNH
  EFVHCAPEIEKLFQSVAQCCMGQKQAQQVMEGTGAS

• Sequence length: 2376

Pathways

KEGG:

RNA degradation

Reactome:

Deadenylation of mRNA
TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Alopecia-intellectual disability syndrome 4	Likely pathogenic	rs2040286240	RCV001261956	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CNOT1-related disorder	Likely pathogenic	rs2543913794, rs2543955657	RCV004529123 RCV003421002	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Holoprosencephaly 12 with or without pancreatic agenesis	Likely pathogenic; Pathogenic	rs2543913901, rs1567417422	RCV003984903 RCV000787479	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Holoprosencephaly sequence	Pathogenic	rs1567417422	RCV000758715	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic	rs2151940462	RCV001526583	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs2151901942, rs2151924068, rs2151918356	RCV002274329 RCV002274436 RCV002274443	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nuerodevelopment disorder	Pathogenic	rs2544075614	RCV003128552	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vissers-Bodmer syndrome	Likely pathogenic; Pathogenic	rs2151976617, rs2151901930, rs2543916472, rs2544111033, rs2544111453, rs2543937637, rs2543913901, rs1567417422, rs1597562609, rs2042382430, rs2040599000, rs2042382246	RCV001843760 RCV001843814 RCV002289047 RCV002468824 RCV002468825 RCV003149141 RCV003984903 RCV004798863 RCV001257577 RCV001257578 RCV001257580 RCV001261954	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOLOPROSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Preterm intraventricular hemorrhage	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33232269	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29731407		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	25793711		★☆☆☆☆ Found in Text Mining only
Classical Lissencephalies and Subcortical Band Heterotopias	Lissencephaly	Pubtator	24433985	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	28179590	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	31006510		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	29508705		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	31797865	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24391856		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	31006513		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	BEFREE	31006510, 31006513		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypersensitivity Delayed	Hypersensitivity	Pubtator	32553196	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	32553196	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Language Development Disorders	Language development disorders	Pubtator	32553196	Associate	★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	32553196	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10492168		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29547901		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	31036567		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	25980492		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	25980492	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	25663449, 28188704		★☆☆☆☆ Found in Text Mining only
Pancreatic agenesis-holoprosencephaly syndrome	Pancreatic Agenesis-Holoprosencephaly Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	28540026		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	32553196	Associate	★☆☆☆☆ Found in Text Mining only
Semilobar Holoprosencephaly	Semilobar Holoprosencephaly	BEFREE	31006510		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only