JMJD1C

The protein encoded by this gene interacts with thyroid hormone receptors and contains a jumonji domain. It is a candidate histone demethylase and is thought to be a coactivator for key transcription factors. It plays a role in the DNA-damage response pathway by demethylating the mediator of DNA damage checkpoint 1 (MDC1) protein, and is required for the survival of acute myeloid leukemia. Mutations in this gene are associated with Rett syndrome and intellectual disability. Diseases associated with JMJD1C include Central Nervous System Germinoma and Rett Syndrome. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Transcriptional misregulation in cancer. An important paralog of this gene is KDM3B.

jumonji domain containing 1C

Probable histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code. Demethylation of Lys residue generates formaldehyde and succinate. May be involved in hormone-dependent transcriptional activation, by participating in recruitment to androgen-receptor target genes (By similarity).

Blood coagulationTAS:Reactome
Chromatin organizationIEA:UniProtKB-KW
Histone H3-K9 demethylationManual Assertion Based On ExperimentIBA:GO_Central
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Regulation of transcription, DNA-templatedManual Assertion Based On ExperimentTAS:UniProtKB

Nucleus