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KRIT1

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(Redirected from CCM1)
KRIT1
Available structures
PDBOrtholog search: C9JD81 PDBe C9JD81 RCSB
Identifiers
AliasesKRIT1, ankyrin repeat containing, CAM, CCM1
External IDsOMIM: 604214; MGI: 1930618; HomoloGene: 12746; GeneCards: KRIT1; OMA:KRIT1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001013406
NM_004912
NM_194454
NM_194455
NM_194456

NM_001170552
NM_030675

RefSeq (protein)

NP_001164023
NP_109600

Location (UCSC)n/aChr 5: 3.85 – 3.9 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Krev interaction trapped protein 1 or Cerebral cavernous malformations 1 protein is a protein that in humans is encoded by the KRIT1 gene.[4][5][6][7] This gene contains 16 coding exons and is located on chromosome 7q21.2. Loss of function mutations in KRIT1 result in the onset of cerebral cavernous malformation.[8] Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord made of dilated capillary vessels.

Interactions

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The KRIT1 protein, is 736 amino acids in length and has a variety of functions. KRIT1 has been shown to interact with multiple signaling pathways including; ITGB1BP1.,[9][10] reactive oxygen species,[11] cell death,[12] and angiogenesis.[13] Related to cerebral cavernous malformations, this protein is required for maintaining the structural integrity of the vasculature.[14][15]

References

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  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000000600Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "UniProt". www.uniprot.org. Retrieved 12 July 2023.
  5. ^ 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. Bibcode:1995PNAS...92.6620G. doi:10.1073/pnas.92.14.6620. PMC 41570. PMID 7604043.
  6. ^ 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.
  7. ^ "Entrez Gene: KRIT1 KRIT1, ankyrin repeat containing".
  8. ^ 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 2640205. PMID 19088124.
  9. ^ 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.
  10. ^ 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.
  11. ^ 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. Bibcode:2010PLoSO...511786G. doi:10.1371/journal.pone.0011786. PMC 2910502. PMID 20668652.
  12. ^ 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 2829125. PMID 20137949.
  13. ^ 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 2906569. PMID 20616044.
  14. ^ 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 2064761. PMID 17954608.
  15. ^ 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 2852911. PMID 20181950.

Further reading

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