{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"A5YKK6","secondaryAccessions":["Q68DX7","Q7Z3K2","Q8IWB8","Q8TB53","Q9BVZ6","Q9UFR8","Q9UI27","Q9Y2L0"],"uniProtkbId":"CNOT1_HUMAN","entryAudit":{"firstPublicDate":"2008-01-15","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2008-01-15","entryVersion":157,"sequenceVersion":2},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"CCR4-NOT transcription complex subunit 1"}},"alternativeNames":[{"fullName":{"value":"CCR4-associated factor 1"}},{"fullName":{"value":"Negative regulator of transcription subunit 1 homolog"},"shortNames":[{"value":"NOT1H"},{"value":"hNOT1"}]}]},"genes":[{"geneName":{"value":"CNOT1"},"synonyms":[{"value":"CDC39"},{"value":"KIAA1007"},{"value":"NOT1"}],"orfNames":[{"value":"AD-005"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q6ZQ08"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10637334"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16778766"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21278420"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21976065"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21984185"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22367759"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23644599"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27558897"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32354837"}],"value":"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)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q6ZQ08"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10637334"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16778766"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18377426"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19558367"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21278420"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21981923"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21984185"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22977175"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23644599"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26027925"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26489469"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27342281"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27558897"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31570513"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32354837"}],"value":"Component of the CCR4-NOT complex; distinct complexes seem to exist that differ in the participation of probably mutually exclusive catalytic subunits (PubMed:10637334, PubMed:16778766, PubMed:19558367, PubMed:22977175). In the complex, interacts directly with CNOT6, CNOT6L, CNOT7 or CNOT8 (PubMed:10637334, PubMed:16778766, PubMed:22977175). Interacts in a ligand-dependent fashion with ESR1 and RXRA (PubMed:16778766). Interacts with NANOS2, TOB1 and ZFP36 (PubMed:18377426, PubMed:21278420, PubMed:23644599). Interacts with TNRC6A, TNRC6B or TNRC6C; the interactions are direct (PubMed:21981923, PubMed:21984185). Interacts with YTHDF2; the interaction is direct and promotes recruitment of the CCR4-NOT complex to N6-methyladenosine (m6A)-containing mRNAs, leading to their deadenylation and subsequent degradation (PubMed:27558897). Interacts with EIF4ENIF1/4E-T (PubMed:26027925, PubMed:26489469, PubMed:27342281, PubMed:32354837). Interacts in an RNA-independent manner with BICC1 (via KH domains) (By similarity). Interacts with TEX13A; the interaction may inhibit CNOT1 binding to mRNA and subsequently CNOT1-mediated mRNA degradation (By similarity). Interacts with HELZ (PubMed:31570513)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"A5YKK6","intActId":"EBI-1222758"},"interactantTwo":{"uniProtKBAccession":"Q3ZCQ2","geneName":"ANXA2R","intActId":"EBI-21258284"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"A5YKK6","intActId":"EBI-1222758"},"interactantTwo":{"uniProtKBAccession":"Q9UKZ1","geneName":"CNOT11","intActId":"EBI-2562014"},"numberOfExperiments":7,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"A5YKK6","intActId":"EBI-1222758"},"interactantTwo":{"uniProtKBAccession":"Q9NZN8","geneName":"CNOT2","intActId":"EBI-743033"},"numberOfExperiments":5,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"A5YKK6","intActId":"EBI-1222758"},"interactantTwo":{"uniProtKBAccession":"O75175","geneName":"CNOT3","intActId":"EBI-743073"},"numberOfExperiments":5,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"A5YKK6","intActId":"EBI-1222758"},"interactantTwo":{"uniProtKBAccession":"Q9ULM6","geneName":"CNOT6","intActId":"EBI-2104530"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"A5YKK6","intActId":"EBI-1222758"},"interactantTwo":{"uniProtKBAccession":"Q96LI5","geneName":"CNOT6L","intActId":"EBI-1046635"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"A5YKK6","intActId":"EBI-1222758"},"interactantTwo":{"uniProtKBAccession":"Q9UIV1","geneName":"CNOT7","intActId":"EBI-2105113"},"numberOfExperiments":10,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"A5YKK6","intActId":"EBI-1222758"},"interactantTwo":{"uniProtKBAccession":"Q9UFF9","geneName":"CNOT8","intActId":"EBI-742299"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"A5YKK6","intActId":"EBI-1222758"},"interactantTwo":{"uniProtKBAccession":"Q86TB9","geneName":"PATL1","intActId":"EBI-2562092"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"A5YKK6","intActId":"EBI-1222758"},"interactantTwo":{"uniProtKBAccession":"Q8NDV7","geneName":"TNRC6A","intActId":"EBI-2269715"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"A5YKK6","intActId":"EBI-1222758"},"interactantTwo":{"uniProtKBAccession":"Q9UPQ9","geneName":"TNRC6B","intActId":"EBI-947158"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"A5YKK6","intActId":"EBI-1222758"},"interactantTwo":{"uniProtKBAccession":"Q9HCJ0","geneName":"TNRC6C","intActId":"EBI-6507625"},"numberOfExperiments":7,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"A5YKK6","intActId":"EBI-1222758"},"interactantTwo":{"uniProtKBAccession":"Q9HCJ0-1","geneName":"TNRC6C","intActId":"EBI-52312184"},"numberOfExperiments":9,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"A5YKK6","intActId":"EBI-1222758"},"interactantTwo":{"uniProtKBAccession":"P50616","geneName":"TOB1","intActId":"EBI-723281"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"A5YKK6","intActId":"EBI-1222758"},"interactantTwo":{"uniProtKBAccession":"P22893","geneName":"Zfp36","intActId":"EBI-647803"},"numberOfExperiments":5,"organismDiffer":true},{"interactantOne":{"uniProtKBAccession":"A5YKK6-2","intActId":"EBI-16057352"},"interactantTwo":{"uniProtKBAccession":"P26651","geneName":"ZFP36","intActId":"EBI-374248"},"numberOfExperiments":4,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q6ZQ08"}],"value":"NANOS2 promotes its localization to P-body"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21976065"}],"value":"Cytoplasm, P-body","id":"SL-0230"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"21976065"}],"value":"Nucleus","id":"SL-0191"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["A5YKK6-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["A5YKK6-2"],"sequenceIds":["VSP_030559"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["A5YKK6-3"],"sequenceIds":["VSP_030559","VSP_030562","VSP_030563"],"isoformSequenceStatus":"Described"},{"name":{"value":"4"},"isoformIds":["A5YKK6-4"],"sequenceIds":["VSP_030560","VSP_030561"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10637334"}],"value":"Strongly expressed in brain, heart, thymus, spleen, kidney, liver, placenta and lung. Weakly expressed in skeletal muscle and colon"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22367759"}],"value":"Expressed in embryonic stem (ES) cells"}],"commentType":"DEVELOPMENTAL STAGE"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16778766"}],"value":"Contains Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs, a motif known to be important for the association with nuclear receptors"}],"commentType":"DOMAIN"},{"commentType":"DISEASE","disease":{"diseaseId":"Holoprosencephaly 12 with or without pancreatic agenesis","diseaseAccession":"DI-05615","acronym":"HPE12","description":"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.","diseaseCrossReference":{"database":"MIM","id":"618500"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31006510"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31006513"}]},"note":{"texts":[{"value":"The disease may be caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Vissers-Bodmer syndrome","diseaseAccession":"DI-05920","acronym":"VIBOS","description":"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.","diseaseCrossReference":{"database":"MIM","id":"619033"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32553196"}]},"note":{"texts":[{"value":"The disease may be caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the CNOT1 family"}],"commentType":"SIMILARITY"},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Frameshift","sequence":"AAF14861.1","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"CAH18093.1","note":"Truncated 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