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
• Disease Acronyms (UniProt): HPE12, 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	21873635
GO:0000289	Process	Nuclear-transcribed mRNA poly(A) tail shortening	TAS
GO:0000932	Component	P-body	IBA	21873635
GO:0000932	Component	P-body	IDA	21976065
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, 21278420, 21981923, 21984185, 22977175, 23232451, 23463101, 23644599, 24736845, 24768540, 25038453, 26496610, 27342281, 30833792
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005634	Component	Nucleus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006977	Process	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	TAS
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	IBA	21873635
GO:0017148	Process	Negative regulation of translation	IDA	24736845
GO:0019904	Function	Protein domain specific binding	IPI	24768540
GO:0030014	Component	CCR4-NOT complex	IDA	19558367
GO:0030015	Component	CCR4-NOT core complex	IBA	21873635
GO:0030331	Function	Estrogen receptor binding	IDA	16778766
GO:0033147	Process	Negative regulation of intracellular estrogen receptor signaling pathway	IDA	16778766
GO:0035195	Process	Gene silencing by miRNA	IDA	23172285, 24768540
GO:0042974	Function	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	21873635
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:0090503	Process	RNA phosphodiester bond hydrolysis, exonucleolytic	IEA
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	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

Causal
Disease term	Disease name	dbSNP ID	References
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074	31006513
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Hearing loss	Conductive hearing loss, Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	28540026

Unknown
Disease term	Disease name	Evidence	References	Source
Holoprosencephaly	holoprosencephaly 12 with or without pancreatic agenesis			GenCC
Neurodevelopmental Disorders	complex neurodevelopmental disorder			GenCC
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Insomnia	Insomnia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
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