F
IPR028745

A-kinase anchor protein 9/Pericentrin

InterPro entry
Short nameAKAP9/Pericentrin

Description

A-kinase anchor protein 9 (AKAP9, also known as AKAP 350) and pericentrin (pericentrin-B, kendrin) are large coiled-coil proteins found in mammalian centrosomes that serve to recruit structural and regulatory components including dynein and protein kinase
[7, 1]
. These scaffold proteins contain a pericentrin-AKAP-450 centrosomal targeting (PACT) domain
[6]
.

Mutations of AKAP9 cause long QT syndrome 11 (LQT11), which is a heart disorder characterised by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias
[2]
. AKAP9 has also been implicated in breast cancer
[3]
and sporadic papillary thyroid carcinomas
[4]
. In mice, AKAP9 is essential for Spermatogenesis and sertoli cell maturation
[5]
.

References

1.AKAP350 interaction with cdc42 interacting protein 4 at the Golgi apparatus. Larocca MC, Shanks RA, Tian L, Nelson DL, Stewart DM, Goldenring JR. Mol. Biol. Cell 15, 2771-81, (2004). View articlePMID: 15047863

2.Mutation of an A-kinase-anchoring protein causes long-QT syndrome. Chen L, Marquardt ML, Tester DJ, Sampson KJ, Ackerman MJ, Kass RS. Proc. Natl. Acad. Sci. U.S.A. 104, 20990-5, (2007). View articlePMID: 18093912

3.7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium. Milne RL, Lorenzo-Bermejo J, Burwinkel B, Malats N, Arias JI, Zamora MP, Benitez J, Humphreys MK, Garcia-Closas M, Chanock SJ, Lissowska J, Sherman ME, Mannermaa A, Kataja V, Kosma VM, Nevanlinna H, Heikkinen T, Aittomaki K, Blomqvist C, Anton-Culver H, Ziogas A, Devilee P, van Asperen CJ, Tollenaar RA, Seynaeve C, Hall P, Czene K, Liu J, Irwanto AK, Kang D, Yoo KY, Noh DY, Couch FJ, Olson JE, Wang X, Fredericksen Z, Nordestgaard BG, Bojesen SE, Flyger H, Margolin S, Lindblom A, Fasching PA, Schulz-Wendtland R, Ekici AB, Beckmann MW, Wang-Gohrke S, Shen CY, Yu JC, Hsu HM, Wu PE, Giles GG, Severi G, Baglietto L, English DR, Cox A, Brock I, Elliott G, Reed MW, Beesley J, Chen X, Investigators K; AOCS Group, Fletcher O, Gibson L, dos Santos Silva I, Peto J, Frank B, Heil J, Meindl A, Chang-Claude J, Hein R, Vrieling A, Flesch-Janys D, Southey MC, Smith L, Apicella C, Hopper JL, Dunning AM, Pooley KA, Pharoah PD, Hamann U, Pesch B, Ko YD; GENICA Network, Easton DF, Chenevix-Trench G. J. Med. Genet. 48, 698-702, (2011). View articlePMID: 21931171

4.BRAF mutation and AKAP9 expression in sporadic papillary thyroid carcinomas. Lee JH, Lee ES, Kim YS, Won NH, Chae YS. Pathology 38, 201-4, (2006). View articlePMID: 16753739

5.AKAP9 is essential for spermatogenesis and sertoli cell maturation in mice. Schimenti KJ, Feuer SK, Griffin LB, Graham NR, Bovet CA, Hartford S, Pendola J, Lessard C, Schimenti JC, Ward JO. Genetics 194, 447-57, (2013). View articlePMID: 23608191

6.The PACT domain, a conserved centrosomal targeting motif in the coiled-coil proteins AKAP450 and pericentrin. Gillingham AK, Munro S. EMBO Rep. 1, 524-9, (2000). View articlePMID: 11263498

7.Direct interaction of pericentrin with cytoplasmic dynein light intermediate chain contributes to mitotic spindle organization. Purohit A, Tynan SH, Vallee R, Doxsey SJ. J. Cell Biol. 147, 481-92, (1999). View articlePMID: 10545494

GO terms

cellular component

  • None
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