KRIT1

KRIT1, ankyrin repeat containing

Identifiers

KRIT1; CAM; CCM1

External IDs

OMIM: 604214 MGI: 1930618 HomoloGene: 12746 GeneCards: KRIT1 Gene

Gene Ontology
Molecular function	• small GTPase regulator activity • protein binding
Cellular component	• cytoskeleton • cell-cell junction • membrane • protein complex
Biological process	• negative regulation of endothelial cell proliferation • small GTPase mediated signal transduction • negative regulation of endothelial cell migration • negative regulation of angiogenesis • positive regulation of protein binding • cell redox homeostasis • regulation of establishment of cell polarity • negative regulation of endothelial cell apoptosis
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 7:
91.83 – 91.88 Mb

Chr 5:
3.8 – 3.85 Mb

PubMed search

[1]

[2]

Krev interaction trapped protein 1 is a protein that in humans is encoded by the KRIT1 gene.^[1]^[2]^[3]

It can be associated with Cavernous venous malformation.^[4]

Interactions

KRIT1 has been shown to interact with ITGB1BP1.^[5]^[6]

References

^ Gunel M, Awad IA, Anson J, Lifton RP (Aug 1995). "Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21". Proc Natl Acad Sci U S A 92 (14): 6620–4. doi:10.1073/pnas.92.14.6620. PMC 41570. PMID 7604043. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=41570.
^ Eerola I, McIntyre B, Vikkula M (May 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.
^ "Entrez Gene: KRIT1 KRIT1, ankyrin repeat containing". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=889.
^ Pagenstecher A, Stahl S, Sure U, Felbor U (March 2009). "A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells". Hum. Mol. Genet. 18 (5): 911–8. doi:10.1093/hmg/ddn420. PMC 2640205. PMID 19088124. http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=19088124.
^ Zhang, J; Clatterbuck R E, Rigamonti D, Chang D D, Dietz H C (Dec. 2001). "Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation". Hum. Mol. Genet. (England) 10 (25): 2953–60. doi:10.1093/hmg/10.25.2953. ISSN 0964-6906. PMID 11741838.
^ Zawistowski, Jon S; Serebriiskii Ilya G, Lee Maximilian F, Golemis Erica A, Marchuk Douglas A (Feb. 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. (England) 11 (4): 389–96. doi:10.1093/hmg/11.4.389. ISSN 0964-6906. PMID 11854171.

Verlaan DJ, Davenport WJ, Stefan H, et al. (2002). "Cerebral cavernous malformations: mutations in Krit1.". Neurology 58 (6): 853–7. PMID 11914398.
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. doi:10.1006/geno.1995.1147. 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. doi:10.1074/jbc.272.43.27369. 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. doi:10.1093/hmg/8.12.2325. 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. doi:10.1093/hmg/9.9.1351. 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.
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. doi:10.1093/hmg/10.25.2953. 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. doi:10.1093/hmg/11.4.389. 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. doi:10.1086/340604. PMC 379143. PMID 11941540. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=379143.
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. PMC 125011. PMID 12140362. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=125011.
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. doi:10.1016/S0925-4773(02)00209-5. 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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.

Proteins of the cytoskeleton

Human

Microfilaments
(ABPs)

Myofilament

Actins	A1, A2, B, C1, G1, G2

Myosins	I (MYO1A, MYO1B, MYO1C, MYO1D, MYO1E, MYO1F, MYO1G, MYO1H) · II (MYH1, MYH2, MYH3, MYH4, MYH6, MYH7, MYH7B, MYH8, MYH9, MYH10, MYH11, MYH13, MYH14, MYH15, MYH16) · III (MYO3A, MYO3B) · V (MYO5A, MYO5B, MYO5C) · VI (MYO6) · VII (MYO7A, MYO7B) · IX (MYO9A, MYO9B) · X (MYO10) · XV (MYO15A) · XVIII (MYO18A, MYO18B) · LC (MYL1, MYL2, MYL3, MYL4, MYL5, MYL6, MYL6B, MYL7, MYL9, MYLIP, MYLK, MYLK2, MYLL1)

Other	Tropomodulin (1, 2, 3, 4) · Troponin (T 1 2 3, C 1 2, I 1 2 3) · Tropomyosin (1, 2, 3, 4) Actinin (1, 2, 3, 4) · Arp2/3 complex · actin depolymerizing factors (Cofilin (1, 2) · Destrin) · Gelsolin · Profilin (1, 2) · Titin

Other

Wiskott-Aldrich syndrome protein · Fibrillin · Filamin (FLNA, FLNB, FLNC) · Espin · TRIOBP

IFs

Type 1/2
(Keratin,
Cytokeratin)

Epithelial keratins (soft alpha-keratins)	type I/chromosome 17 (10, 12, 13, 14, 15, 16, 17, 19, 20) · chromosome 12 (18) · none (21) type II/chromosome 12 (1, 2A, 3, 4, 5, 6A, 6B, 7, 8, 9)

Hair keratins (hard alpha-keratins)	type I/chromosome 17 (31, 32, 33A, 33B, 34, 35, 36, 37, 38) type II/chromosome 12 (81, 82, 83, 84, 85, 86)

Ungrouped alpha	chromosome 17 (23, 24, 25, 26, 27, 28, 39, 40) chromosome 12 (71, 72, 73, 74, 75, 76, 77, 78, 79, 80)

Not alpha	Beta-keratin

Type 3

Desmin, GFAP, Peripherin, Vimentin

Type 4

Internexin, Nestin, Neurofilament (NEFL, NEFM, NEFH), Synemin, Syncoilin

Type 5

Lamin A, B

Microtubules/
MAPs

Kinesins	KIF1A, KIF1B, KIF2A, KIF2C, KIF3B, KIF3C, KIF4A, KIF4B, KIF5A, KIF5B, KIF5C, KIF6, KIF7, KIF9, KIF11, KIF12, KIF13A, KIF13B, KIF14, KIF15, KIF16B, KIF17, KIF18A, KIF18B, KIF19, KIF20A, KIF20B, KIF21A, KIF21B, KIF22, KIF23, KIF24, KIF25, KIF26A, KIF26B, KIF27, KIFC1, KIFC2, KIFC3

Dyneins	axonemal: DNAH1, DNAH2, DNAH3, DNAH5, DNAH6, DNAH7, DNAH8, DNAH9, DNAH10, DNAH11, DNAH12, DNAH13, DNAH14, DNAH17, DNAI1, DNAI2, DNALI1, DNAL1, DNAL4 cytoplasmic: DYNC1H1, DYNC2H1, DYNC1I1, DYNC1I2, DYNC1LI1, DYNC1LI2, DYNC2LI1, DYNLL1, DYNLL2, DYNLRB1, DYNLRB2, DYNLT1, DYNLT3

Other	Tau protein · Dynactin (DCTN1) · Tubulins (TUBA1A, TUBA1B, TUBA1C, TUBA3C, TUBA3D, TUBA3E, TUBA4A, TUBA8) · Stathmin · Tektin (TEKT1, TEKT2, TEKT3, TEKT4, TEKT5) · Dynamin (DNM1, DNM2, DNM3)

Catenins

Alpha catenin · Beta catenin (APC) · Plakoglobin (gamma catenin) · Delta catenin · GAN

Membrane

Dystrophin (Dystroglycan) · Utrophin · Ankyrin (ANK1, ANK2, ANK3) · Spectrin (SPTA1, SPTAN1, SPTB, SPTBN1, SPTBN2, SPTBN4, SPTBN5)

Other

plakin (Desmoplakin, Plectin) · Talin (TLN1) · Vinculin · Plakophilin (PKP1, PKP2)

Nonhuman

Major sperm proteins · Prokaryotic cytoskeleton (Crescentin, FtsZ, MreB)

see also cytoskeletal defects
B strc: edmb (perx), skel (ctrs), epit, cili, mito, nucl (chro)

KRIT1

Interactions

References

Further reading