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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23019
Gene name	CCR4-NOT transcription complex subunit 1
Gene symbol	CNOT1
Synonyms (NCBI Gene)	AD-005CDC39HPE12NOT1NOT1HVIBOS
Chromosome	16
Chromosome location	16q21

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

288

Show/Hide all (288)

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

Show/Hide all (42)

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

MIM	HGNC	e!Ensembl
604917	7877	ENSG00000125107

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

Interactions

View interactions

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

125

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Alopecia-intellectual disability syndrome 4	Likely pathogenic	rs2040286240	RCV001261956
CNOT1-related disorder	Likely pathogenic	rs2543913794, rs2543955657	RCV004529123 RCV003421002
Holoprosencephaly 12 with or without pancreatic agenesis	Likely pathogenic; Pathogenic	rs2543913901, rs1567417422	RCV003984903 RCV000787479
Holoprosencephaly sequence	Pathogenic	rs1567417422	RCV000758715
Intellectual disability	Likely pathogenic	rs2151940462	RCV001526583
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs2151901942, rs2151924068, rs2151918356	RCV002274329 RCV002274436 RCV002274443
Nuerodevelopment disorder	Pathogenic	rs2544075614	RCV003128552
See cases	Likely pathogenic; Pathogenic	rs1597562609	RCV001420342
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

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs12596169, rs35860581	RCV005915932 RCV005924506
Cholangiocarcinoma	Benign	rs12596169, rs35860581	RCV005915937 RCV005924509
Gastric cancer	Benign	rs35860581, rs11860588	RCV005924507 RCV005904411
Hepatocellular carcinoma	Benign	rs12596169	RCV005915933
Lung cancer	Uncertain significance	rs750430533	RCV005928660
Malignant lymphoma, large B-cell, diffuse	Benign	rs42947	RCV005924755
Neurodevelopmental disorder	Uncertain significance	rs1351476758	RCV003389215
Ovarian serous cystadenocarcinoma	Benign	rs12596169	RCV005915935
Preterm intraventricular hemorrhage	Uncertain significance	rs2151916553	RCV001391289
Sarcoma	Benign	rs12596169	RCV005915934
Thymoma	Benign	rs12596169, rs35860581	RCV005915936 RCV005924508
Uterine corpus endometrial carcinoma	Uncertain significance; Benign	rs779487196, rs11860588	RCV005928450 RCV005904412

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Renal Cell	Associate	33232269
Classical Lissencephalies and Subcortical Band Heterotopias	Associate	24433985
Colonic Diseases	Associate	28179590
Death Sudden Cardiac	Associate	19305409
Diabetes Mellitus Type 2	Associate	31797865
HIV Infections	Associate	32084337
Hypersensitivity Delayed	Associate	32553196
Inflammation	Associate	24433985
Intellectual Disability	Associate	32553196
Language Development Disorders	Associate	32553196
Learning Disabilities	Associate	32553196
Leukemia Lymphocytic Chronic B Cell	Associate	25793711
Mental Disorders	Associate	32553196
Muscle Hypotonia	Associate	32553196
Neoplasms	Associate	27626165
Neuroblastoma	Associate	25980492
Seizures	Associate	32553196

CNOT1 (CCR4-NOT transcription complex subunit 1)