{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q7Z3B3","secondaryAccessions":["A8K5E4","B3KT49","I3L4J3","Q6AW85","Q8IYH1","Q9BRH0","Q9NTE7","Q9UFT0","Q9ULF3"],"uniProtkbId":"KANL1_HUMAN","entryAudit":{"firstPublicDate":"2006-05-16","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2023-06-28","entryVersion":173,"sequenceVersion":3},"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":"KAT8 regulatory NSL complex subunit 1"}},"alternativeNames":[{"fullName":{"value":"MLL1/MLL complex subunit KANSL1"}},{"fullName":{"value":"MSL1 homolog 1"},"shortNames":[{"value":"hMSL1v1"}]},{"fullName":{"value":"NSL complex protein NSL1"}},{"fullName":{"value":"Non-specific lethal 1 homolog"}}]},"genes":[{"geneName":{"value":"KANSL1"},"synonyms":[{"value":"CENP-36"},{"value":"KIAA1267"},{"value":"MSL1V1"},{"value":"NSL1"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20018852"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22547026"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26243146"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27768893"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33657400"}],"value":"Non-catalytic component of the NSL histone acetyltransferase complex, a multiprotein complex that mediates histone H4 acetylation at 'Lys-5'- and 'Lys-8' (H4K5ac and H4K8ac) at transcription start sites and promotes transcription initiation (PubMed:20018852, PubMed:22547026, PubMed:33657400). The NSL complex also acts as a regulator of gene expression in mitochondria (PubMed:27768893). In addition to its role in transcription, KANSL1 also plays an essential role in spindle assembly during mitosis (PubMed:26243146). Associates with microtubule ends and contributes to microtubule stability (PubMed:26243146)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU01397"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15960975"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16227571"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16543150"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20018852"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20620954"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21217699"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22547026"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27768893"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33657400"}],"value":"Component of the NSL complex at least composed of MOF/KAT8, KANSL1, KANSL2, KANSL3, MCRS1, PHF20, OGT1/OGT, WDR5 and HCFC1. Interacts (via PEHE domain) with KAT8 (via HAT domain); the interaction is direct (PubMed:16227571, PubMed:16543150, PubMed:20018852, PubMed:20620954, PubMed:21217699, PubMed:22547026, PubMed:27768893, PubMed:33657400). Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1, WDR5 and RBBP5, as well as the facultative components BACC1, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10 (PubMed:15960975)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q7Z3B3","intActId":"EBI-740244"},"interactantTwo":{"uniProtKBAccession":"Q13137","geneName":"CALCOCO2","intActId":"EBI-739580"},"numberOfExperiments":5,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q7Z3B3","intActId":"EBI-740244"},"interactantTwo":{"uniProtKBAccession":"Q96JN2-2","geneName":"CCDC136","intActId":"EBI-10171416"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q7Z3B3","intActId":"EBI-740244"},"interactantTwo":{"uniProtKBAccession":"Q15834","geneName":"CCDC85B","intActId":"EBI-739674"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q7Z3B3","intActId":"EBI-740244"},"interactantTwo":{"uniProtKBAccession":"Q99459","geneName":"CDC5L","intActId":"EBI-374880"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q7Z3B3","intActId":"EBI-740244"},"interactantTwo":{"uniProtKBAccession":"Q01850","geneName":"CDR2","intActId":"EBI-1181367"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q7Z3B3","intActId":"EBI-740244"},"interactantTwo":{"uniProtKBAccession":"Q8NHQ1","geneName":"CEP70","intActId":"EBI-739624"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q7Z3B3","intActId":"EBI-740244"},"interactantTwo":{"uniProtKBAccession":"Q96EV8","geneName":"DTNBP1","intActId":"EBI-465804"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q7Z3B3","intActId":"EBI-740244"},"interactantTwo":{"uniProtKBAccession":"A1L4K1","geneName":"FSD2","intActId":"EBI-5661036"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q7Z3B3","intActId":"EBI-740244"},"interactantTwo":{"uniProtKBAccession":"Q08379","geneName":"GOLGA2","intActId":"EBI-618309"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q7Z3B3","intActId":"EBI-740244"},"interactantTwo":{"uniProtKBAccession":"Q96ED9","geneName":"HOOK2","intActId":"EBI-743290"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q7Z3B3","intActId":"EBI-740244"},"interactantTwo":{"uniProtKBAccession":"Q9BVG8","geneName":"KIFC3","intActId":"EBI-2125614"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q7Z3B3","intActId":"EBI-740244"},"interactantTwo":{"uniProtKBAccession":"P19012","geneName":"KRT15","intActId":"EBI-739566"},"numberOfExperiments":5,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q7Z3B3","intActId":"EBI-740244"},"interactantTwo":{"uniProtKBAccession":"P43365","geneName":"MAGEA12","intActId":"EBI-749530"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q7Z3B3","intActId":"EBI-740244"},"interactantTwo":{"uniProtKBAccession":"Q7Z6G3-2","geneName":"NECAB2","intActId":"EBI-10172876"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q7Z3B3","intActId":"EBI-740244"},"interactantTwo":{"uniProtKBAccession":"P37198","geneName":"NUP62","intActId":"EBI-347978"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q7Z3B3","intActId":"EBI-740244"},"interactantTwo":{"uniProtKBAccession":"Q86Y26","geneName":"NUTM1","intActId":"EBI-10178410"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q7Z3B3","intActId":"EBI-740244"},"interactantTwo":{"uniProtKBAccession":"Q8ND90","geneName":"PNMA1","intActId":"EBI-302345"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q7Z3B3","intActId":"EBI-740244"},"interactantTwo":{"uniProtKBAccession":"Q96R06","geneName":"SPAG5","intActId":"EBI-413317"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q7Z3B3","intActId":"EBI-740244"},"interactantTwo":{"uniProtKBAccession":"Q9UBB9","geneName":"TFIP11","intActId":"EBI-1105213"},"numberOfExperiments":5,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q7Z3B3","intActId":"EBI-740244"},"interactantTwo":{"uniProtKBAccession":"Q9BUZ4","geneName":"TRAF4","intActId":"EBI-3650647"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q7Z3B3","intActId":"EBI-740244"},"interactantTwo":{"uniProtKBAccession":"P14373","geneName":"TRIM27","intActId":"EBI-719493"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q7Z3B3","intActId":"EBI-740244"},"interactantTwo":{"uniProtKBAccession":"P61964","geneName":"WDR5","intActId":"EBI-540834"},"numberOfExperiments":15,"organismDiffer":false}]},{"commentType":"SUBCELLULAR 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Expressive language development is particularly impaired compared with receptive language or motor skills. Additional features include social and friendly behavior, epilepsy, musculoskeletal anomalies, congenital heart defects, urogenital malformations, and ectodermal anomalies.","diseaseCrossReference":{"database":"MIM","id":"610443"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22544363"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22544367"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26424144"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"May be due to an intron retention"}],"commentType":"MISCELLANEOUS","molecule":"Isoform 2"},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"CAH10565.1","note":"Truncated 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