KRIT1

From Wikipedia, the free encyclopedia

KRIT1, ankyrin repeat containing

Identifiers

KRIT1; CAM; CCM1

External IDs

OMIM: 604214 MGI: 1930618 HomoloGene: 12746

Gene ontology
Molecular Function:	• small GTPase regulator activity • binding • protein binding
Cellular Component:	• cytoskeleton
Biological Process:	• small GTPase mediated signal transduction

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_001013406 (mRNA)
NP_001013424 (protein)

NM_030675 (mRNA)
NP_109600 (protein)

Location

Chr 7: 91.67 - 91.71 Mb

Chr 5: 3.81 - 3.85 Mb

Pubmed search

[1]

[2]

KRIT1, ankyrin repeat containing, also known as KRIT1, is a human gene.^[1]

[edit] References

^ Entrez Gene: KRIT1 KRIT1, ankyrin repeat containing.

[edit] Further reading

Verlaan DJ, Davenport WJ, Stefan H, et al. (2002). "Cerebral cavernous malformations: mutations in Krit1.". Neurology 58 (6): 853–7. PMID 11914398.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.