{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q6KC79","secondaryAccessions":["Q6KCD6","Q6N080","Q6ZT92","Q7Z2E6","Q8N4M5","Q9Y6Y3","Q9Y6Y4"],"uniProtkbId":"NIPBL_HUMAN","entryAudit":{"firstPublicDate":"2004-07-19","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2004-07-19","entryVersion":202,"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":"Nipped-B-like protein"}},"alternativeNames":[{"fullName":{"value":"Delangin"}},{"fullName":{"value":"SCC2 homolog"}}]},"genes":[{"geneName":{"value":"NIPBL"},"synonyms":[{"value":"IDN3"},{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"22628566"}],"value":"SCC2"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q6KCD5"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22628566"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28167679"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28914604"}],"value":"Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin (PubMed:22628566, PubMed:28914604). Plays a role in cohesin loading at sites of DNA damage. Its recruitment to double-strand breaks (DSBs) sites occurs in a CBX3-, RNF8- and RNF168-dependent manner whereas its recruitment to UV irradiation-induced DNA damage sites occurs in a ATM-, ATR-, RNF8- and RNF168-dependent manner (PubMed:28167679). Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others (By similarity)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q6KCD5"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15882967"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16682347"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16802858"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20562864"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21934712"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22628566"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28167679"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32409525"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39742660"}],"value":"Heterodimerizes with MAU2/SCC4 to form the cohesin loading complex (PubMed:16682347, PubMed:16802858, PubMed:21934712, PubMed:22628566, PubMed:28167679). The NIPBL-MAU2 heterodimer interacts with the cohesin complex composed of SMC1A/B and SMC3 heterodimer, RAD21 and STAG1/SA1 (PubMed:22628566). NIPBL directly contacts all members of the complex, RAD21, SMC1A/B, SMC3 and STAG1 (PubMed:32409525). Interacts directly (via PxVxL motif) with CBX5 (PubMed:15882967, PubMed:20562864). Interacts with ZNF609 (via N-terminus) (By similarity). Interacts with the multiprotein complex Integrator (By similarity). Interacts (via PxVxL motif) with CBX3 (PubMed:28167679). Interacts with BRD4 (By similarity). Interacts with PRR12; the interaction is relevant for nuclear localization of the cohesin complex (PubMed:39742660)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q6KC79","intActId":"EBI-722767"},"interactantTwo":{"uniProtKBAccession":"Q9Y6X3","geneName":"MAU2","intActId":"EBI-4395624"},"numberOfExperiments":7,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28167679"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28914604"}],"value":"Nucleus","id":"SL-0191"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q6KCD5"}],"value":"Chromosome","id":"SL-0468"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"synonyms":[{"value":"A"},{"value":"IDN3-A"}],"isoformIds":["Q6KC79-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"synonyms":[{"value":"B"},{"value":"IDN3-B"}],"isoformIds":["Q6KC79-2"],"sequenceIds":["VSP_011092","VSP_011093"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["Q6KC79-3"],"sequenceIds":["VSP_011091"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146185"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146186"}],"value":"Widely expressed. Highly expressed in heart, skeletal muscle, fetal and adult liver, fetal and adult kidney. Expressed at intermediates level in thymus, placenta, peripheral leukocyte and small intestine. Weakly or not expressed in brain, colon, spleen and lung"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146185"}],"value":"In embryos, it is expressed in developing limbs and later in cartilage primordia of the ulna and of various hand bones. Sites of craniofacial expression include the cartilage primordium of the basioccipital and basisphenoid skull bones and elsewhere in the head and face, including a region encompassing the mesenchyme adjacent to the cochlear canal. Also expressed in the spinal column, notochord and surface ectoderm sclerotome and what seem to be migrating myoblasts. Expressed in the developing heart in the atrial and ventricular myocardium and in the ventricular tubeculae but absent in the endocardial cushions. Also expressed in the developing esophagus, trachea and midgut loops, in the bronchi of the lung and in the tubules of the metanephros. Expression in organs and tissues not typically affected in CDL (e.g. the developing trachea, bronchi, esophagus, heart and kidney) may reflect a bias towards underreporting of more subtle aspects of the phenotype or problems that typically present later in life. Expressed in the mesenchyme surrounding the cochlear canal possibly reflecting the hearing impairment commonly found. Weakly or not expressed in embryonic brain"}],"commentType":"DEVELOPMENTAL STAGE"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20562864"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28167679"}],"value":"Contains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif, which is required for interaction with chromoshadow domains. This motif requires additional residues -7, -6, +4 and +5 of the central Val which contact the chromoshadow domain"}],"commentType":"DOMAIN"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28167679"}],"value":"The C-terminal region containing HEAT repeats and Pro-Xaa-Val-Xaa-Leu (PxVxL) motif are involved in the recruitment of NIPBL to sites of DNA damage"}],"commentType":"DOMAIN"},{"commentType":"DISEASE","disease":{"diseaseId":"Cornelia de Lange syndrome 1","diseaseAccession":"DI-00379","acronym":"CDLS1","description":"A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies.","diseaseCrossReference":{"database":"MIM","id":"122470"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146185"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146186"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15318302"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20124326"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20358602"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21934712"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23254390"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25447906"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28167679"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this 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