Nuclear nucleic acid-binding protein C1D is a protein that in humans is encoded by the C1Dgene.[5][6][7][8][9][10] The C1D protein is encoded by a DNA binding gene traced in the nucleus.[11] Protein C1D has a chromosomal location of 2p14.[12] C1D has a family of proteins consisting of C1D homologues which may include Sas10 domains.[13] C1D is thought to bind to RNA and DNA where it may be involved in mechanisms of DNA repair.[13] Protein C1D is ubiquitously expressed in different human tissues.[14]
Despite inducing denaturing conditions, C1D shows high-affinity binding to DNA.[13] C1D has demonstrated capability to bind to DNA in DNA repair pathways.[13]
The protein encoded by this gene is a DNA binding and apoptosis-inducing protein and is localized in the nucleus. It is also a Rac3-interacting protein which acts as a corepressor for the thyroid hormone receptor. This protein is thought to regulate TRAX/Translin complex formation. Protein C1D may have a protective effect against relation to the TRAX/Translin complex formation of DNA.[13] Several alternatively spliced transcript variants of this gene have been described, but the full length nature of some of these variants has not been determined.[10]
C1D has been shown to interact with TSNAX[8] and DNA-PKcs.[15] C1D has also shown to interact notably in mammalian cells and yeast.[16] Interaction in mammalian cells only occur ensuing gamma-irradiation.[16]
The protein C1D is thought to be expressed ubiquitously.[14] It may be expressed in high levels in the mammary gland, thyroid gland, salivary gland, medulla oblongata, and hippocampus.[14] It may be expressed at lower levels in the appendix, heart, lungs, skeletal muscles, and colon.[14]
^Schilders G, Egberts WV, Raijmakers R, Pruijn GJ (July 2007). "C1D is a major autoantibody target in patients with the polymyositis-scleroderma overlap syndrome". Arthritis and Rheumatism. 56 (7): 2449–2454. doi:10.1002/art.22710. hdl:2066/35047. PMID17599775.
Rothbarth K, Hunziker A, Stammer H, Werner D (April 2001). "Promoter of the gene encoding the 16 kDa DNA-binding and apoptosis-inducing C1D protein". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1518 (3): 271–275. doi:10.1016/S0167-4781(01)00198-1. PMID11311939.
Rothbarth K, Spiess E, Juodka B, Yavuzer U, Nehls P, Stammer H, Werner D (July 1999). "Induction of apoptosis by overexpression of the DNA-binding and DNA-PK-activating protein C1D". Journal of Cell Science. 112 ( Pt 13) (13): 2223–2232. doi:10.1242/jcs.112.13.2223. hdl:11693/25220. PMID10362552.
Haataja L, Groffen J, Heisterkamp N (April 1998). "Identification of a novel Rac3-interacting protein C1D". International Journal of Molecular Medicine. 1 (4): 665–670. doi:10.3892/ijmm.1.4.665. PMID9852280.