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Isoform 1 is expressed in all tissues except brain, skeletal muscle and PBMC, 3 is ubiquitous, 4 is expressed in all tissues except brain, skeletal muscle, lung and prostate and 5 is detectable only in testis and at very low level in brain and prostate"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"value":"The PWWP domain is essential for targeting to pericentric heterochromatin"}],"commentType":"DOMAIN"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11735126"}],"value":"Sumoylated"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250"}],"value":"Citrullinated by PADI4"}],"commentType":"PTM"},{"commentType":"DISEASE","disease":{"diseaseId":"Immunodeficiency-centromeric instability-facial anomalies syndrome 1","diseaseAccession":"DI-01813","acronym":"ICF1","description":"A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. 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