JMJD1C

Chr 10q21.3

jumonji domain containing 1C

Aliases:: DKFZp761F0118, KIAA1380, FLJ14374, KDM3C
MANE:: ENST00000399262.7

OMIM: 604503 ↗NCBI: 221037 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

JMJD1C · Q15652

v62025-08-01

Predicted Aligned Error matrix for JMJD1C — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

49.2/ 100

Very low

2,540 residues

Confidence breakdown

Very high(≥ 90)15%
Confident(70–90)15%
Low(50–70)5%
Very low(< 50)65%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

atrial fibrillation
0.45
type 2 diabetes mellitus
0.41
intelligence
0.41
gout
0.40
neurodegenerative disease
0.39
Abnormality of the skeletal system
0.39
autism spectrum disorder
0.38
cholelithiasis
0.38
hypertensive disorder
0.38
22q11.2 deletion syndrome
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Jumonji domain-containing protein 1C

Demethylates lysine in proteins, such as STAT3 or MDC1 (By similarity) (PubMed:24240613). Demethylates MDC1, thereby promoting MDC1-RNF8 interaction and facilitating RNF8-dependent MDC1 ubiquitination essential for double-strand break (DSB) repair (PubMed:24240613). Demethylation of STAT3 at 'Lys-140' facilitates its interactions with the phosphatase PTPN6 and restrains STAT3 activation (By similarity). It is uncertain whether JMJD1C removes methyl groups from histone proteins as the other JMJD1/KDM3 proteins do (PubMed:23593242, PubMed:24240613, PubMed:32034158). Nevertheless, JMJD1C may act as a context-specific histone demethylase. Implicated in lipogenic gene transcription in the liver, where USF1 recruits JMJD1C to lipogenic promoters in response to insulin or feeding stimuli, thereby potentially promoting H3K9me2 demethylation and enhancing chromatin accessibility (PubMed:32034158). Post-translational modifications may regulate JMJD1C's enzymatic activity, contributing to its context-specific functions (PubMed:32034158). Alternatively, JMJD1C may influence chromatin regulation indirectly, acting as a scaffold or co-regulator that recruits or stabilizes other active demethylase complexes modifying histone marks (PubMed:24240613). Plays an indispensable role in spermatogenesis (By similarity)