JMJD1C Gene Summary [Human]

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Details

Type
Retained Intron
Official Symbol
JMJD1C
Official Name
jumonji domain containing 1C [Source:HGNC Symbol;Acc:HGNC:12313]
Ensembl ID
ENSG00000171988
Bio databases IDs NCBI: 221037 Ensembl: ENSG00000171988
Aliases jumonji domain containing 1C
Synonyms 5430433L24RIK, AC156272.1, D630035I23Rik, Jmjdic, jumonji domain containing 1C, KDM3C, Pr2, TRIP-8
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human JMJD1C often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • enzyme
  • protein binding
  • thyroid hormone receptor binding
  • histone demethylase activity
  • RmlC-like cupin superfamily

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • thrombocytopenia
  • gallstone
  • neoplasia
  • Alzheimer disease
  • ischemic stroke
  • gout
  • venous thromboembolism
  • mammary neoplasm
  • non-insulin-dependent diabetes mellitus
  • insomnia
regulated by
regulates
role in cell
  • growth
  • expression in
  • binding in
  • proliferation
  • apoptosis
  • differentiation
  • number
  • survival
  • signaling in
  • morphogenesis

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nucleoplasm

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human JMJD1C gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • chromatin remodeling
  • regulation of transcription, DNA-dependent
  • blood coagulation
  • regulation of transcription from RNA polymerase II promoter

Cellular Component

Where in the cell the gene product is active
  • histone deacetylase complex
  • chromatin
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • dioxygenase activity
  • chromatin DNA binding
  • protein binding
  • transcription cofactor activity
  • metal ion binding
  • histone demethylase activity (H3-K9 specific)
  • thyroid hormone receptor binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.