KRIT1

KRIT1, ankyrin repeat containing
Identifiers
Symbols	KRIT1 ; CAM; CCM1
External IDs	Template:OMIM5 Template:MGI HomoloGene: 12746
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO
RNA expression pattern
File:PBB GE KRIT1 216713 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

KRIT1, ankyrin repeat containing, also known as KRIT1, is a human gene.

Further reading

• Verlaan DJ, Davenport WJ, Stefan H; et al. (2002). "Cerebral cavernous malformations: mutations in Krit1". Neurology. 58 (6): 853–7. PMID 11914398.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Günel M, Awad IA, Anson J, Lifton RP (1995). "Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21". Proc. Natl. Acad. Sci. U.S.A. 92 (14): 6620–4. PMID 7604043.CS1 maint: Multiple names: authors list (link)
• Marchuk DA, Gallione CJ, Morrison LA; et al. (1996). "A locus for cerebral cavernous malformations maps to chromosome 7q in two families". Genomics. 28 (2): 311–4. PMID 8530042.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Serebriiskii I, Estojak J, Sonoda G; et al. (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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Deloulme JC, Prichard L, Delattre O, Storm DR (1997). "The prooncoprotein EWS binds calmodulin and is phosphorylated by protein kinase C through an IQ domain". J. Biol. Chem. 272 (43): 27369–77. PMID 9341188.CS1 maint: Multiple names: authors list (link)
• Laberge-le Couteulx S, Jung HH, Labauge P; et al. (1999). "Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas". Nat. Genet. 23 (2): 189–93. doi:10.1038/13815. PMID 10508515.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sahoo T, Johnson EW, Thomas JW; et al. (1999). "Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1)". Hum. Mol. Genet. 8 (12): 2325–33. PMID 10545614.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Eerola I, Plate KH, Spiegel R; et al. (2000). "KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation". Hum. Mol. Genet. 9 (9): 1351–5. PMID 10814716.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Zhang J, Clatterbuck RE, Rigamonti D, Dietz HC (2001). "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.CS1 maint: Multiple names: authors list (link)
• Sahoo T, Goenaga-Diaz E, Serebriiskii IG; et al. (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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Eerola I, McIntyre B, Vikkula M (2001). "Identification of eight novel 5'-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1". Biochim. Biophys. Acta. 1517 (3): 464–7. PMID 11342228.CS1 maint: Multiple names: authors list (link)
• Zhang J, Clatterbuck RE, Rigamonti D; et al. (2002). "Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation". Hum. Mol. Genet. 10 (25): 2953–60. PMID 11741838.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Couteulx SL, Brézin AP, Fontaine B; et al. (2002). "A novel KRIT1/CCM1 truncating mutation in a patient with cerebral and retinal cavernous angiomas". Arch. Ophthalmol. 120 (2): 217–8. PMID 11831930.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Zawistowski JS, Serebriiskii IG, Lee MF; et al. (2002). "KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis". Hum. Mol. Genet. 11 (4): 389–96. PMID 11854171.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Verlaan DJ, Siegel AM, Rouleau GA (2002). "Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation". Am. J. Hum. Genet. 70 (6): 1564–7. PMID 11941540.CS1 maint: Multiple names: authors list (link)
• Gunel M, Laurans MS, Shin D; et al. (2002). "KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein". Proc. Natl. Acad. Sci. U.S.A. 99 (16): 10677–82. doi:10.1073/pnas.122354499. PMID 12140362.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kehrer-Sawatzki H, Wilda M, Braun VM; et al. (2002). "Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1)". Acta Neuropathol. 104 (3): 231–40. doi:10.1007/s00401-002-0552-6. PMID 12172908.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Denier C, Gasc JM, Chapon F; et al. (2003). "Krit1/cerebral cavernous malformation 1 mRNA is preferentially expressed in neurons and epithelial cells in embryo and adult". Mech. Dev. 117 (1–2): 363–7. PMID 12204286.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)