JMJD1C
Jumonji Domain Containing 1C, a histone demethylase involved in transcriptional regulation and linked to neurodevelopmental disorders and cancer.
Gene Information Card
| Symbol | JMJD1C |
|---|---|
| Full Name | Jumonji domain containing 1C |
| Gene Type | protein-coding |
| Chromosomal Location | 10q21.3 |
| NCBI Gene ID | 221037 ncbi.nlm.nih.gov/gene/221037 |
| Ensembl ID | ENSG00000171988 |
| UniProt ID | Q15652 |
| OMIM ID | 604503 |
| HGNC ID | 12313 |
| Aliases | TRIP8, JHDM2C, KDM3C |
Description
JMJD1C (Jumonji domain containing 1C) encodes a histone demethylase that specifically demethylates mono- and dimethylated histone H3 lysine 9 (H3K9me1/me2), thereby regulating chromatin structure and gene expression. The protein is involved in transcriptional activation, androgen receptor signaling, and spermatogenesis. Mutations and altered expression of JMJD1C have been implicated in neurodevelopmental disorders, including intellectual disability and autism spectrum disorder, as well as in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, autosomal dominant 65 | Loss-of-function mutations in JMJD1C impair histone demethylase activity, disrupting transcriptional regulation essential for neurodevelopment. | ClinVar |
| Autism spectrum disorder | De novo missense and truncating variants in JMJD1C are associated with ASD, likely due to altered chromatin remodeling. | ClinVar |
| Acute myeloid leukemia | JMJD1C is recurrently mutated in AML; loss of function may contribute to leukemogenesis by dysregulating gene expression. | COSMIC |
| Prostate cancer | JMJD1C overexpression enhances androgen receptor signaling, promoting tumor growth. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Brain | 10.2 | Medium |
| Heart | 6.8 | Medium |
| Liver | 3.1 | Low |
| Kidney | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.3 | Embryonic kidney cells |
| K562 | 8.7 | Leukemia cells |
| HeLa | 6.4 | Cervical cancer cells |
| HepG2 | 4.1 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.567G>A (p.Trp189*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.890A>G (p.Tyr297Cys) | Missense | Rare | Likely damaging; affects catalytic domain |
| c.1456_1457del (p.Leu486fs) | Frameshift | Rare | Loss of function; frameshift and truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the JmjC domain, reducing or abolishing histone demethylase activity.
Gain of Function (GOF)
Not well characterized; some missense variants may increase demethylase activity but evidence is limited.
Dominant Negative (DN)
Not reported for JMJD1C.
View complete mutation data：
Gene Ontology (GO)
| • histone H3-K9 demethylation | • chromatin remodeling |
| • transcription | • DNA-templated |
| • metal ion binding | • nucleus |
Pathways
• Chromatin modifying enzymes
• Androgen receptor signaling pathway
Protein Summary
JMJD1C is a 2541-amino acid nuclear protein containing a JmjC domain responsible for demethylating H3K9me1/me2. It acts as a transcriptional coactivator, interacting with nuclear receptors such as the androgen receptor. The protein is highly expressed in testis and brain, consistent with roles in spermatogenesis and neurodevelopment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| JMJD1C Knockout HEK293 Cell Line | EDJ-KQ8035 | Human | 221037 | Details Get a Quote |
| JMJD1C Knockout A-549 Cell Line | EDJ-KQ35076 | Human | 221037 | Details Get a Quote |
| JMJD1C Knockout HCT 116 Cell Line | EDJ-KQ35077 | Human | 221037 | Details Get a Quote |
| JMJD1C Knockout HeLa Cell Line | EDJ-KQ35078 | Human | 221037 | Details Get a Quote |
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