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KRIT1, ankyrin repeat containing

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GeneName krit1
Aliases ENSDARG:ENSDARG00000036115; San; santa; fb36f07; zgc: 63585; wu:fb36f07; krit1; ccm1
Description KRIT1, ankyrin repeat containing
GenomicLocation chromosome 19 47907750-47934848 forward strand
ExternalIDs Entrez:321836; EMBL:DQ677877; UniGene:4553; ZFIN:ZDB-GENE-030131-555;
TranscriptID ENSDART:ENSDART00000151640, ENSDART:ENSDART00000122014; ENSDART:ENSDART00000102211; ENSDART:ENSDART00000052433
mRNA NCBI:NM_199572
GeneDescription San is the zebrafish homolog of human CCM1 involved in a genetic signalling pathway that regulates concentric growth of the myocardium crucial for blood pressure generation. Mutations of this gene is known to cause cerebral cavernous malformations (CCM) of brain.
GeneFunction Mably JD et al. (2006) suggested that concentric growth of the ventricle is an essential element of cardiac patterning, controlled at least in part by signals from the endocardium, and involving a pathway comprised of san and two other genes vtn and heg. Jin SW et al. (2007) in an attempt to identify novel genes regulating vascular development conducted an ENU induced mutagenesis screen in zebrafish and identified santa to be one of the genes involved in regulating earlier steps of vascular development such as endothelial specification and/or differentiation and in regulation of number of endothelial cells. Hogan BM et al. (2008) characterized the function of the ccm1 gene in zebrafish embryonic model of CCM. They identified zebrafish ccm1 as an endothelial specific regulator of cellular morphogenesis, implicating specific endothelial cellular morphogenesis defects in the dilation of CCM deficient vessels during development and pathogenesis. They further demonstrated that the function of ccm1 is autonomous to endothelial cells.
GeneCloning The gene is contained in BAC (CH211-153F2)
GeneStructure The gene encodes four transcripts . The first transcript (ENSDART00000122014) has 17 exons and is 2,881 bps in length. The protein product (ENSDARP00000110167) is 741 residues long. The second transcript (ENSDART00000102211) has 17 exons and is 2564 bps in length. The protein product (ENSDARP00000092987) is 740 residues long.The third transcript (ENSDART00000052433) has 12 exons and is 1,670 bps in length. The protein product (ENSDARP00000052432) is 442 residues long. The fourth transcript (ENSDART00000151640) has 4 exons and is 804 bps in length. No protein product.
Protein ENSDARP00000110167 ENSDARP00000092987 ENSDARP00000052432
ProteinDomainandFamilies has domain InterPro:IPR002110; InterPro:IPR000299; InterPro:IPR014352;
Motifs has motif PFAM:PF00023; PRINTS:PR01415;
Expression ArrayExpress:ENSDARG00000036115
GeneOntology GO:0003007, GO:0007275, GO:0001525, GO:0072554, GO:0048514, GO:0001886, GO:0007507, GO:0045602, GO:0007033, GO:0001570,GO:0030054, GO:0005737, GO:0005856, GO:0016020, GO:0005886, GO:0005874
Orthologs Entrez:889;
VariationAndRepeats RSID:rs40655682; RSID:rs179871097; RSID:rs40771756; RSID:rs40784296; RSID:rs179871100; RSID:rs40654696; RSID:rs40638298; RSID:rs40667731
DisordersAndMutations ZFINID:ZDB-GENO-081111-6; ZFINID:ZDB-GENO-980202-269; ZFINID:ZDB-GENO-070808-11; ZFINID:ZDB-GENO-080318-5; ZFINID:ZDB-GENO-080319-2; ZFINID:ZDB-GENO-050916-5; ZFINID:ZDB-GENO-081111-1; ZFINID:ZDB-GENO-081112-1; ZFINID:ZDB-GENO-081111-5; ZFINID:ZDB-GENO-081111-2; ZFINID:ZDB-GENO-070209-213; ZFINID:ZDB-GENO-110725-6; ZFINID:ZDB-GENO-110118-2; ZFINID:ZDB-GENO-980202-1023; Zebrafish embryos with the recessive lethal mutations of santa (san) constituted of a monolayered myocardium lined by endocardium (Mably JD et al. (2006)) leading to the formation of an enlarged heart showing vigorous contaction but weak circulation (Chen JN et al. (1996)). The santa (san) mutants are also observed to show an increase in the number of endothelial cells (Jin SW et al. (2007)). Morpholinos The antisense morpholino oligonucleotide designed over the san exon 1 donor site has the sequence 5'-GCTTTATTTCACCTCAC(intron-exon)CTCATAGG-3'. Another morpholino ologonucleotide ccm1 MO has been used against the ccm1 start codon , the sequence of which is 5'-CTCCTCTAGCTCTTGGTTTCCCATC-3'.
RelatedPubMedArticles Chen, JN; Haffter, P; Odenthal, J; Vogelsang, E; Brand, M; van Eeden, FJ; Furutani-Seiki, M; Granato, M; Hammerschmidt, M; Heisenberg, CP; Jiang, YJ; Kane, DA; Kelsh, RN; Mullins, MC; Nüsslein-Volhard, C. (1996). Mutations affecting the cardiovascular system and other internal organs in zebrafish. Development. 123:293-302. PMID:9007249 . Mably, JD; Chuang, LP; Serluca, FC; Mohideen, MA; Chen, JN; Fishman, MC. (2006). Santa and valentine pattern concentric growth of cardiac myocardium in the zebrafish. Development. 133(16):3139-46, PMID:16873582 . Jin, SW; Herzog, W; Santoro, MM; Mitchell, TS; Frantsve, J; Jungblut, B; Beis, D; Scott, IC; D'Amico, LA; Ober, EA; Verkade, H; Field, HA; Chi, NC; Wehman, AM; Baier, H; Stainier, DY. (2007). A transgene-assisted genetic screen identifies essential regulators of vascular development in vertebrate embryos. Dev Biol. ul 1;307(1):29-42. PMID:17531218 . Hogan ,BM; Bussmann, J; Wolburg, H; Schulte-Merker, S. (2008). Ccm1 cell autonomously regulates endothelial cellular morphogenesis and vascular tubulogenesis in zebrafish. Hum Mol Genet. 15;17(16):2424-32. PMID:18469344 . NCBI Resource Coordinators.: Database resources of the National Center for Biotechnology Information. Nucleic Acids Res. 41(Database issue):D8-D20. 2013. PMID:23193264
Kersey, P. J.; Allen, J. E.; Christensen, M.; et al.: Ensembl Genomes 2013: scaling up access to genome-wide data. Nucleic Acids Res. 2013. PMID:24163254
Sigrist, C. J. A.; de, Castro, E; Cerutti, L; Cuche, B. A.; Hulo, N.; Bridge, A.; Bougueleret, L. Xenarios, I.: New and continuing developments at PROSITE. Nucleic Acids Res. doi: 10.1093/nar/gks1067. 2012. PMID:23161676
Punta, M.; Coggill, P. C.; Eberhardt, et al.: The Pfam protein families database. Nucleic Acids Res. 40(Database Issue):D290-D301. 2012. PMID:22127870
Hunter, S.; Jones P.; Mitchell A.; et al.: Interpro in 2011: new developments in the family and domain prediction database. Nucleic Acids Res. doi: 10.1093/nar/gkr948. 2011. PMID:22096229
Carbon, S.; Ireland, A.; Mungall, C. J.; Shu, S.; Marshall, B.; Lewis, S.; AMIGO Hub; Web Presence Working Group.: AMIGO: online access to ontology and annotation data. Bioinformatics. 25(2):288-9. 2009. PMID:19033274
Ashburner, M.; Ball, C. A.; Blake, J. A.; et al. The Gene Ontology Consortium.: Gene ontology: tool for the unification of biology. Nat. Genet. 25(1):25-9. 2000. PMID:10802651
Sherry, S. T.; Ward, M. H.; Kholodov, M.; Baker, J.; Phan, L.; Smigielski, E. M.; Sirotkin, K.: dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 1;29(1):308-11. 2001. PMID:11125122
Bradford, Y.; Conlin, T.; Dunn, N.; et al.: ZFIN: enhancements and updates to the zebrafish model organism database. Nucleic Acids Res. 39(suppl 1):D822-D829. 2011. PMID:21036866
Kapushesky, M.; Adamusiak, T.; Burdett, T.; et al.: Gene Expression Atlas update--a value-added database of microarray and sequencing-based functional genomics experiments. Nucleic Acids Res. 40(Database isue):D1077-81. 2012. PMID:22064864

Web resources:
NCBI: http://www.ncbi.nlm.nih.gov/
PFAM: http://pfam.sanger.ac.uk/
PROSITE: http://prosite.expasy.org/
Interpro: http://www.ebi.ac.uk/interpro/
ZFIN: http://zfin.org/
Expression Atlas (EMBL): http://www.ebi.ac.uk/gxa/
Ensembl: http://asia.ensembl.org/Danio_rerio/
Database of Single Nucleotide Polymorphisms (dbSNP). Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine.: http://www.ncbi.nlm.nih.gov/SNP/
PRINTS from Genomenet: http://www.genome.jp/
European Nucleotide Archive: http://www.ebi.ac.uk/ena/home
UNIGENE: http://www.ncbi.nlm.nih.gov/unigene/
AMIGO Gene Ontology: http://amigo.geneontology.org
Topic revision: r2 - 2013-07-06 - Kriti66Kaushik87
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