KRIT1

KRIT1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases KRIT1, ankyrin repeat containing, CAM, CCM1
External IDs MGI: 1930618 HomoloGene: 12746 GeneCards: KRIT1
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

889

79264

Ensembl

ENSG00000001631

ENSMUSG00000000600

UniProt

O00522

Q6S5J6

RefSeq (mRNA)

NM_001013406
NM_004912
NM_194454
NM_194455
NM_194456

NM_001170552
NM_030675

RefSeq (protein)

NP_001013424.1
NP_004903.2
NP_919436.1
NP_919437.1
NP_919438.1

NP_001164023.1
NP_109600.2

Location (UCSC) Chr 7: 92.2 – 92.25 Mb Chr 5: 3.8 – 3.85 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Krev interaction trapped protein 1 is a protein that in humans is encoded by the CCM1 gene.[3][4][5] This gene contains 16 coding exons and is located on chromosome 7q21.2. Loss of function mutations in CCM1 result in the onset of Cerebral cavernous malformation.[6] Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord made of dilated capillary vessels.

Interactions

The normal CCM1 protein, KRIT1 (Krev Interaction Trapped), is 736 amino acids in length and has a variety of functions. KRIT1 has been shown to interact with multiple signaling pathways including; ITGB1BP1.,[7][8] reactive oxygen species,[9] cell death,[10] and angiogenesis.[11] Related to the CCM illness, this protein is required for maintaining the structural integrity of the vasculature.[12][13]

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ "Mouse PubMed Reference:".
  3. ↑ Günel M, Awad IA, Anson J, Lifton RP (Jul 1995). "Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21". Proceedings of the National Academy of Sciences of the United States of America. 92 (14): 6620–4. doi:10.1073/pnas.92.14.6620. PMC 41570Freely accessible. PMID 7604043.
  4. ↑ Eerola I, McIntyre B, Vikkula M (Feb 2001). "Identification of eight novel 5'-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1". Biochimica et Biophysica Acta. 1517 (3): 464–7. doi:10.1016/s0167-4781(00)00303-1. PMID 11342228.
  5. ↑ "Entrez Gene: KRIT1 KRIT1, ankyrin repeat containing".
  6. ↑ Pagenstecher A, Stahl S, Sure U, Felbor U (Mar 2009). "A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells". Human Molecular Genetics. 18 (5): 911–8. doi:10.1093/hmg/ddn420. PMC 2640205Freely accessible. PMID 19088124.
  7. ↑ Zhang J, Clatterbuck RE, Rigamonti D, Chang DD, Dietz HC (Dec 2001). "Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation". Human Molecular Genetics. 10 (25): 2953–60. doi:10.1093/hmg/10.25.2953. PMID 11741838.
  8. ↑ Zawistowski JS, Serebriiskii IG, Lee MF, Golemis EA, Marchuk DA (Feb 2002). "KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis". Human Molecular Genetics. 11 (4): 389–96. doi:10.1093/hmg/11.4.389. PMID 11854171.
  9. ↑ Goitre L, Balzac F, Degani S, Degan P, Marchi S, Pinton P, Retta SF (2010). Capogrossi MC, ed. "KRIT1 regulates the homeostasis of intracellular reactive oxygen species". PLOS ONE. 5 (7): e11786. doi:10.1371/journal.pone.0011786. PMC 2910502Freely accessible. PMID 20668652.
  10. ↑ Ito S, Greiss S, Gartner A, Derry WB (Feb 2010). "Cell-nonautonomous regulation of C. elegans germ cell death by kri-1". Current Biology. 20 (4): 333–338. doi:10.1016/j.cub.2009.12.032. PMC 2829125Freely accessible. PMID 20137949.
  11. ↑ Wüstehube J, Bartol A, Liebler SS, Brütsch R, Zhu Y, Felbor U, Sure U, Augustin HG, Fischer A (Jul 2010). "Cerebral cavernous malformation protein CCM1 inhibits sprouting angiogenesis by activating DELTA-NOTCH signaling". Proceedings of the National Academy of Sciences of the United States of America. 107 (28): 12640–12645. doi:10.1073/pnas.1000132107. PMC 2906569Freely accessible. PMID 20616044.
  12. ↑ Glading A, Han J, Stockton RA, Ginsberg MH (Oct 2007). "KRIT-1/CCM1 is a Rap1 effector that regulates endothelial cell cell junctions". The Journal of Cell Biology. 179 (2): 247–254. doi:10.1083/jcb.200705175. PMC 2064761Freely accessible. PMID 17954608.
  13. ↑ Borikova AL, Dibble CF, Sciaky N, Welch CM, Abell AN, Bencharit S, Johnson GL (Apr 2010). "Rho kinase inhibition rescues the endothelial cell cerebral cavernous malformation phenotype". The Journal of Biological Chemistry. 285 (16): 11760–11764. doi:10.1074/jbc.C109.097220. PMC 2852911Freely accessible. PMID 20181950.

Further reading

  • Verlaan DJ, Davenport WJ, Stefan H, Sure U, Siegel AM, Rouleau GA (Mar 2002). "Cerebral cavernous malformations: mutations in Krit1". Neurology. 58 (6): 853–7. doi:10.1212/wnl.58.6.853. PMID 11914398. 
  • Marchuk DA, Gallione CJ, Morrison LA, Clericuzio CL, Hart BL, Kosofsky BE, Louis DN, Gusella JF, Davis LE, Prenger VL (Jul 1995). "A locus for cerebral cavernous malformations maps to chromosome 7q in two families". Genomics. 28 (2): 311–4. doi:10.1006/geno.1995.1147. PMID 8530042. 
  • Serebriiskii I, Estojak J, Sonoda G, Testa JR, Golemis EA (Aug 1997). "Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22". Oncogene. 15 (9): 1043–9. doi:10.1038/sj.onc.1201268. PMID 9285558. 
  • Deloulme JC, Prichard L, Delattre O, Storm DR (Oct 1997). "The prooncoprotein EWS binds calmodulin and is phosphorylated by protein kinase C through an IQ domain". The Journal of Biological Chemistry. 272 (43): 27369–77. doi:10.1074/jbc.272.43.27369. PMID 9341188. 
  • Laberge-le Couteulx S, Jung HH, Labauge P, Houtteville JP, Lescoat C, Cecillon M, Marechal E, Joutel A, Bach JF, Tournier-Lasserve E (Oct 1999). "Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas". Nature Genetics. 23 (2): 189–93. doi:10.1038/13815. PMID 10508515. 
  • Sahoo T, Johnson EW, Thomas JW, Kuehl PM, Jones TL, Dokken CG, Touchman JW, Gallione CJ, Lee-Lin SQ, Kosofsky B, Kurth JH, Louis DN, Mettler G, Morrison L, Gil-Nagel A, Rich SS, Zabramski JM, Boguski MS, Green ED, Marchuk DA (Nov 1999). "Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1)". Human Molecular Genetics. 8 (12): 2325–33. doi:10.1093/hmg/8.12.2325. PMID 10545614. 
  • Eerola I, Plate KH, Spiegel R, Boon LM, Mulliken JB, Vikkula M (May 2000). "KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation". Human Molecular Genetics. 9 (9): 1351–5. doi:10.1093/hmg/9.9.1351. PMID 10814716. 
  • Zhang J, Clatterbuck RE, Rigamonti D, Dietz HC (Dec 2000). "Cloning of the murine Krit1 cDNA reveals novel mammalian 5' coding exons". Genomics. 70 (3): 392–5. doi:10.1006/geno.2000.6410. PMID 11161791. 
  • Sahoo T, Goenaga-Diaz E, Serebriiskii IG, Thomas JW, Kotova E, Cuellar JG, Peloquin JM, Golemis E, Beitinjaneh F, Green ED, Johnson EW, Marchuk DA (Jan 2001). "Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene". Genomics. 71 (1): 123–6. doi:10.1006/geno.2000.6426. PMID 11161805. 
  • Zhang J, Clatterbuck RE, Rigamonti D, Chang DD, Dietz HC (Dec 2001). "Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation". Human Molecular Genetics. 10 (25): 2953–60. doi:10.1093/hmg/10.25.2953. PMID 11741838. 
  • Couteulx SL, Brézin AP, Fontaine B, Tournier-Lasserve E, Labauge P (Feb 2002). "A novel KRIT1/CCM1 truncating mutation in a patient with cerebral and retinal cavernous angiomas". Archives of Ophthalmology. 120 (2): 217–8. PMID 11831930. 
  • Zawistowski JS, Serebriiskii IG, Lee MF, Golemis EA, Marchuk DA (Feb 2002). "KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis". Human Molecular Genetics. 11 (4): 389–96. doi:10.1093/hmg/11.4.389. PMID 11854171. 
  • Verlaan DJ, Siegel AM, Rouleau GA (Jun 2002). "Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation". American Journal of Human Genetics. 70 (6): 1564–7. doi:10.1086/340604. PMC 379143Freely accessible. PMID 11941540. 
  • Gunel M, Laurans MS, Shin D, DiLuna ML, Voorhees J, Choate K, Nelson-Williams C, Lifton RP (Aug 2002). "KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein". Proceedings of the National Academy of Sciences of the United States of America. 99 (16): 10677–82. doi:10.1073/pnas.122354499. PMC 125011Freely accessible. PMID 12140362. 
  • Kehrer-Sawatzki H, Wilda M, Braun VM, Richter HP, Hameister H (Sep 2002). "Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1)". Acta Neuropathologica. 104 (3): 231–40. doi:10.1007/s00401-002-0552-6. PMID 12172908. 
  • Denier C, Gasc JM, Chapon F, Domenga V, Lescoat C, Joutel A, Tournier-Lasserve E (Sep 2002). "Krit1/cerebral cavernous malformation 1 mRNA is preferentially expressed in neurons and epithelial cells in embryo and adult". Mechanisms of Development. 117 (1-2): 363–7. doi:10.1016/S0925-4773(02)00209-5. PMID 12204286. 
This article is issued from Wikipedia - version of the 11/1/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.