JMJD1C

JMJD1C
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2YPD, 5FZO
Identifiers
Aliases	JMJD1C , TRIP8, TRIP-8, jumonji domain containing 1C, KDM3C
External IDs	OMIM: 604503 MGI: 1918614 HomoloGene: 3129 GeneCards: JMJD1C
Gene location (Human) Chr. Chromosome 10 (human) [1] Band 10q21.3 Start 63,167,221 bp [1] End 63,521,850 bp [1]
Gene location (Mouse) Chr. Chromosome 10 (mouse) [2] Band 10|10 B5.1 Start 67,096,125 bp [2] End 67,256,326 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon jejunal mucosa superficial temporal artery cancellous bone right lung sperm visceral pleura tibia ganglionic eminence monocyte Top expressed in uterus cerebellar cortex ganglionic eminence neural tube ovary thymus spleen mesencephalon olfactory bulb spermatocyte More reference expression data BioGPS n/a
Gene ontology Molecular function oxidoreductase activity protein binding dioxygenase activity metal ion binding thyroid hormone receptor binding transcription cis-regulatory region binding chromatin DNA binding histone H3-methyl-lysine-9 demethylase activity Cellular component intracellular anatomical structure nucleoplasm chromatin nucleus Biological process blood coagulation regulation of transcription, DNA-templated transcription, DNA-templated histone H3-K9 demethylation chromatin organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 221037 108829 Ensembl ENSG00000171988 ENSMUSG00000037876 UniProt Q15652 Q69ZK6 RefSeq (mRNA) NM_001282948 NM_004241 NM_032776 NM_001318153 NM_001318154 NM_001322252 NM_001322254 NM_001322258 NM_001242396 NM_207221 RefSeq (protein) NP_001269877 NP_001305082 NP_001305083 NP_001309181 NP_001309183 NP_001309187 NP_116165 NP_001229325 NP_997104 Location (UCSC) Chr 10: 63.17 – 63.52 Mb Chr 10: 67.1 – 67.26 Mb PubMed search [3] [4]
Wikidata
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Jumonji domain containing 1C is a protein that in humans is encoded by the JMJD1C gene. ^[5]

Function

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. ^[5]

Epigenetic regulation of spermatogenesis

Jmjd1C belongs to the Jmjd1 family genes. Jmjd1C encodes a histone H3K9 demethylase. In addition, the JMJD1c gene has a role in mouse spermatogenesis. In male homozygous Jmjd1C mouse knockouts are unable to produce sperm. The mechanism may be the absence of interaction between JMJD1C with JMJD1c's partner proteins, for example, MDC1 and HSP90.^{[ citation needed ]}

References

1. GRCh38: Ensembl release 89: ENSG00000171988 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000037876 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Jumonji domain containing 1C".

Further reading

• Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, et al. (2006). "A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease". Am. J. Hum. Genet. 78 (1): 78–88. doi:10.1086/498851. PMC   1380225 . PMID   16385451.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.