CNOT1
entrez
23019
canonical
uniprot
A5YKK6
canonical
ensembl
ENSG00000125107
resolver
ensp
ENSP00000320949
resolver
ensp
ENSP00000413113
resolver
ensp
ENSP00000455635
resolver
genesymbol
CNOT1
resolver
genesymbol_syn
CDC39
resolver
genesymbol_syn
KIAA1007
resolver
genesymbol_syn
NOT1
resolver
hgnc
HGNC:7877
resolver
uniprot
Q68DX7
resolver
uniprot
Q7Z3K2
resolver
uniprot
Q8IWB8
resolver
uniprot
Q8TB53
resolver
uniprot
Q9BVZ6
resolver
uniprot
Q9UFR8
resolver
uniprot
Q9UI27
resolver
uniprot
Q9Y2L0
resolver
uniprot_entry
CNOT1_HUMAN
resolver
uniprot_sec
Q68DX7
resolver
uniprot_sec
Q7Z3K2
resolver
uniprot_sec
Q8IWB8
resolver
uniprot_sec
Q8TB53
resolver
uniprot_sec
Q9BVZ6
resolver
uniprot_sec
Q9UFR8
resolver
uniprot_sec
Q9UI27
resolver
uniprot_sec
Q9Y2L0
resolver
amino_acid_sequence
MNLDSLSLALSQISYLVDNLTKKNYRASQQEIQHIVNRHGPEADRHLLRCLFSHVDFSGDGKSSGKDFHQTQFLIQECALLITKPNFISTLSYAIDNPLHYQKSLKPAPHLFAQLSKVLKLSKVQEVIFGLALLNSSSSDLRGFAAQFIKQKLPDLLRSYIDADVSGNQEGGFQDIAIEVLHLLLSHLLFGQKGAFGVGQEQIDAFLKTLRRDFPQERCPVVLAPLLYPEKRDILMDRILPDSGGVAKTMMESSLADFMQEVGYGFCASIEECRNIIVQFGVREVTAAQVARVLGMMARTHSGLTDGIPLQSISAPGSGIWSDGKDKSDGAQAHTWNVEVLIDVLKELNPSLNFKEVTYELDHPGFQIRDSKGLHNVVYGIQRGLGMEVFPVDLIYRPWKHAEGQLSFIQHSLINPEIFCFADYPCHTVATDILKAPPEDDNREIATWKSLDLIESLLRLAEVGQYEQVKQLFSFPIKHCPDMLVLALLQINTSWHTLRHELISTLMPIFLGNHPNSAIILHYAWHGQGQSPSIRQLIMHAMAEWYMRGEQYDQAKLSRILDVAQDLKALSMLLNGTPFAFVIDLAALASRREYLKLDKWLTDKIREHGEPFIQACMTFLKRRCPSILGGLAPEKDQPKSAQLPPETLATMLACLQACAGSVSQELSETILTMVANCSNVMNKARQPPPGVMPKGRPPSASSLDAISPVQIDPLAGMTSLSIGGSAAPHTQSMQGFPPNLGSAFSTPQSPAKAFPPLSTPNQTTAFSGIGGLSSQLPVGGLGTGSLTGIGTGALGLPAVNNDPFVQRKLGTSGLNQPTFQQSKMKPSDLSQVWPEANQHFSKEIDDEANSYFQRIYNHPPHPTMSVDEVLEMLQRFKDSTIKREREVFNCMLRNLFEEYRFFPQYPDKELHITACLFGGIIEKGLVTYMALGLALRYVLEALRKPFGSKMYYFGIAALDRFKNRLKDYPQYCQHLASISHFMQFPHHLQEYIEYGQQSRDPPVKMQGSITTPGSIALAQAQAQAQVPAKAPLAGQVSTMVTTSTTTTVAKTVTVTRPTGVSFKKDVPPSINTTNIDTLLVATDQTERIVEPPENIQEKIAFIFNNLSQSNMTQKVEELKETVKEEFMPWVSQYLVMKRVSIEPNFHSLYSNFLDTLKNPEFNKMVLNETYRNIKVLLTSDKAAANFSDRSLLKNLGHWLGMITLAKNKPILHTDLDVKSLLLEAYVKGQQELLYVVPFVAKVLESSIRSVVFRPPNPWTMAIMNVLAELHQEHDLKLNLKFEIEVLCKNLALDINELKPGNLLKDKDRLKNLDEQLSAPKKDVKQPEELPPITTTTTSTTPATNTTCTATVPPQPQYSYHDINVYSLAGLAPHITLNPTIPLFQAHPQLKQCVRQAIERAVQELVHPVVDRSIKIAMTTCEQIVRKDFALDSEESRMRIAAHHMMRNLTAGMAMITCREPLLMSISTNLKNSFASALRTASPQQREMMDQAAAQLAQDNCELACCFIQKTAVEKAGPEMDKRLATEFELRKHARQEGRRYCDPVVLTYQAERMPEQIRLKVGGVDPKQLAVYEEFARNVPGFLPTNDLSQPTGFLAQPMKQAWATDDVAQIYDKCITELEQHLHAIPPTLAMNPQAQALRSLLEVVVLSRNSRDAIAALGLLQKAVEGLLDATSGADADLLLRYRECHLLVLKALQDGRAYGSPWCNKQITRCLIECRDEYKYNVEAVELLIRNHLVNMQQYDLHLAQSMENGLNYMAVAFAMQLVKILLVDERSVAHVTEADLFHTIETLMRINAHSRGNAPEGLPQLMEVVRSNYEAMIDRAHGGPNFMMHSGISQASEYDDPPGLREKAEYLLREWVNLYHSAAAGRDSTKAFSAFVGQMHQQGILKTDDLITRFFRLCTEMCVEISYRAQAEQQHNPAANPTMIRAKCYHNLDAFVRLIALLVKHSGEATNTVTKINLLNKVLGIVVGVLLQDHDVRQSEFQQLPYHRIFIMLLLELNAPEHVLETINFQTLTAFCNTFHILRPTKAPGFVYAWLELISHRIFIARMLAHTPQQKGWPMYAQLLIDLFKYLAPFLRNVELTKPMQILYKGTLRVLLVLLHDFPEFLCDYHYGFCDVIPPNCIQLRNLILSAFPRNMRLPDPFTPNLKVDMLSEINIAPRILTNFTGVMPPQFKKDLDSYLKTRSPVTFLSDLRSNLQVSNEPGNRYNLQLINALVLYVGTQAIAHIHNKGSTPSMSTITHSAHMDIFQNLAVDLDTEGRYLFLNAIANQLRYPNSHTHYFSCTMLYLFAEANTEAIQEQITRVLLERLIVNRPHPWGLLITFIELIKNPAFKFWNHEFVHCAPEIEKLFQSVAQCCMGQKQAQQVMEGTGAS
uniprot
proteins
disease_involvement
DISEASE: Holoprosencephaly 12 with or without pancreatic agenesis (HPE12) [MIM:618500]: A form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. It is a genetically and clinically heterogeneous disorder with a wide spectrum of severity, ranging from alobar holoprosencephaly with severe facial abnormalities, such as cyclopia and proboscis, to mild forms that include lobar or microform holoprosencephaly, without cerebral malformations and with mild craniofacial defects. HPE12 clinical features include abnormal forebrain development, dysmorphic features, global developmental delay, learning difficulties, and congenital absence of the pancreas in most patients, resulting in early-onset insulin-dependent diabetes mellitus. Other features may include hearing loss and absence of the gallbladder. HPE12 inheritance is autosomal dominant. {ECO:0000269|PubMed:31006510, ECO:0000269|PubMed:31006513}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Vissers-Bodmer syndrome (VIBOS) [MIM:619033]: An autosomal dominant disorder characterized by global developmental delay, intellectual disability of varying degree, speech delay, motor delay, and hypotonia. Abnormal growth, and cerebral, skeletal, muscle and soft tissue abnormalities are frequently observed. Many patients have behavioral problems, including anxiety, obsessive compulsive disorder, autism spectrum disorder and attention deficit-hyperactivity disorder. {ECO:0000269|PubMed:32553196}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Its scaffolding function implies its interaction with the catalytic complex module and diverse RNA-binding proteins mediating the complex recruitment to selected mRNA 3'UTRs. Involved in degradation of AU-rich element (ARE)-containing mRNAs probably via association with ZFP36. Mediates the recruitment of the CCR4-NOT complex to miRNA targets and to the RISC complex via association with TNRC6A, TNRC6B or TNRC6C. Acts as a transcriptional repressor. Represses the ligand-dependent transcriptional activation by nuclear receptors. Involved in the maintenance of embryonic stem (ES) cell identity. Plays a role in rapid sperm motility via mediating timely mRNA turnover (By similarity). {ECO:0000250|UniProtKB:Q6ZQ08, ECO:0000269|PubMed:10637334, ECO:0000269|PubMed:16778766, ECO:0000269|PubMed:21278420, ECO:0000269|PubMed:21976065, ECO:0000269|PubMed:21984185, ECO:0000269|PubMed:22367759, ECO:0000269|PubMed:23644599, ECO:0000269|PubMed:27558897, ECO:0000269|PubMed:32354837}.
uniprot
proteins
mass_dalton
266939
uniprot
proteins
mutagenesis
MUTAGEN 1208; /note="K->E: Impairs interaction with CNOT7; when associated with Y-1212 and E-1218."; /evidence="ECO:0000269|PubMed:22977175"; MUTAGEN 1209; /note="P->Y: Abolishes interaction with CNOT7; when associated with Y-1257."; MUTAGEN 1212; /note="H->Y: Impairs interaction with CNOT7; when associated with E-1208 and E-1218."; /evidence="ECO:0000269|PubMed:22977175"; MUTAGEN 1218; /note="K->E: Impairs interaction with CNOT7; when associated with E-1208 and Y-1212."; /evidence="ECO:0000269|PubMed:22977175"; MUTAGEN 1251; /note="V->R: Abolishes interaction with CNOT7."; MUTAGEN 1257; /note="P->Y: Abolishes interaction with CNOT7; when associated with Y-1209.
uniprot
proteins
protein_family
CNOT1 family
uniprot
proteins
pubmed
10231032
uniprot
proteins
pubmed
10637334
uniprot
proteins
pubmed
10931946
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
16778766
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18377426
uniprot
proteins
pubmed
19558367
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21278420
uniprot
proteins
pubmed
21976065
uniprot
proteins
pubmed
21981923
uniprot
proteins
pubmed
21984185
uniprot
proteins
pubmed
22367759
uniprot
proteins
pubmed
22977175
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23644599
uniprot
proteins
pubmed
26027925
uniprot
proteins
pubmed
26489469
uniprot
proteins
pubmed
27342281
uniprot
proteins
pubmed
27558897
uniprot
proteins
pubmed
31006510
uniprot
proteins
pubmed
31006513
uniprot
proteins
pubmed
31570513
uniprot
proteins
pubmed
32354837
uniprot
proteins
pubmed
32553196
uniprot
proteins
sequence_length
2376
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, P-body {ECO:0000269|PubMed:21976065}. Nucleus {ECO:0000305|PubMed:21976065}. Note=NANOS2 promotes its localization to P-body. {ECO:0000250|UniProtKB:Q6ZQ08}.
uniprot
proteins