KN motif and ankyrin repeat domains 2
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L KANK2 gene provides instructions for making a protein called SRC-interacting protein (SIP). SIP regulates proteins called steroid receptor coactivators (SRCs), which play critical roles in turning on (activating) certain genes. Within cells, SIP attaches (binds) to SRCs in the fluid surrounding the nucleus (the cytoplasm). By holding SRCs in the cytoplasm, SIP prevents these proteins from entering the nucleus to activate genes. In this way, SIP helps to control gene activity.
Normal function
L KANK2 gene provides instructions for making a protein called SRC-interacting protein (SIP). SIP regulates proteins called steroid receptor coactivators (SRCs), which play critical roles in turning on (activating) certain genes. Within cells, SIP attaches (binds) to SRCs in the fluid surrounding the nucleus (the cytoplasm). By holding SRCs in the cytoplasm, SIP prevents these proteins from entering the nucleus to activate genes. In this way, SIP helps to control gene activity.
SIP is found in many organs and tissues, including the skin and kidneys. Little is known about its specific roles in various parts of the body.
Conditions referring to this gene or chromosome
Altri nomi
ANKRD25
ankyrin repeat domain 25
ankyrin repeat domain-containing protein 25
KIAA1518
kidney ankyrin repeat-containing protein 2
matrix-remodeling-associated protein 3
matrix-remodelling associated 3
MXRA3
PPKWH
SIP
SRC-1 interacting protein
SRC-1-interacting protein
SRC-interacting protein
SRC1-interacting protein
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Ulteriori letture e riferimenti
- KN motif and ankyrin repeat domains 2; MedlinePlus, National Library of Medicine.
- Gee HY, Zhang F, Ashraf S, Kohl S, Sadowski CE, Vega-Warner V, Zhou W, Lovric S, Fang H, Nettleton M, Zhu JY, Hoefele J, Weber LT, Podracka L, Boor A, Fehrenbach H, Innis JW, Washburn J, Levy S, Lifton RP, Otto EA, Han Z, Hildebrandt F. KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. J Clin Invest. 2015 Jun;125(6):2375-84. doi: 10.1172/JCI79504. Epub 2015 May 11.
- Ramot Y, Molho-Pessach V, Meir T, Alper-Pinus R, Siam I, Tams S, Babay S, Zlotogorski A. Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair. J Med Genet. 2014 Jun;51(6):388-94. doi: 10.1136/jmedgenet-2014-102346. Epub 2014 Mar 26.
- Zhang Y, Zhang H, Liang J, Yu W, Shang Y. SIP, a novel ankyrin repeat containing protein, sequesters steroid receptor coactivators in the cytoplasm. EMBO J. 2007 Jun 6;26(11):2645-57. doi: 10.1038/sj.emboj.7601710. Epub 2007 May 3.
- Zhu Y, Kakinuma N, Wang Y, Kiyama R. Kank proteins: a new family of ankyrin-repeat domain-containing proteins. Biochim Biophys Acta. 2008 Feb;1780(2):128-33. doi: 10.1016/j.bbagen.2007.09.017. Epub 2007 Oct 4.
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