QuickView for Santa;jsessionid=8CC67963FFF75E0AE27FCA8AEDDF24A9;jsessionid=8156BFAEA294ADFDD67236186B7EB07D (gene)

Gene Symbol:

KRIT1 Homo sapiens

Full name:

KRIT1, ankyrin repeat containing

Synonyms:

CAM, CCM1, krev interaction trapped protein 1, ankyrin repeat-containing protein Krit1, cerebral cavernous malformations 1 protein, krev interaction trapped 1

Genomic Location:

Chr 7: 91666219-91713350

Description:

This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. It binds to integrin cytoplasmic domain-associated protein-1 alpha (ICAP1alpha), and plays a critical role in beta1-integrin-mediated cell proliferati...

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This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. It binds to integrin cytoplasmic domain-associated protein-1 alpha (ICAP1alpha), and plays a critical role in beta1-integrin-mediated cell proliferation. It associates with junction proteins and RAS-related protein 1A (Rap1A), which requires the encoded protein for maintaining the integrity of endothelial junctions. It is also a microtubule-associated protein and may play a role in microtubule targeting. Mutations in this gene result in cerebral cavernous malformations. Multiple alternatively spliced transcript variants have been found for this gene.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  C. elegans ,  Macaca mulatta ,  Danio rerio ,  Bos taurus ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGAAA_NFAT_Q4_01 ,  ATAAGCT_MIR21 ,  GATA1_03 ,  RYTTCCTG_ETS2_B ,  TTTTGAG_MIR373 ,  TTCNRGNNNNTTC_HSF_Q6 ,  TAGCTTT_MIR9 ,  TGACCTY_ERR1_Q2 ,  AR_Q6 ,  GGTGTGT_MIR329 ,  RGAANNTTC_HSF1_01 ,  HSF1_01 ,  TTCYRGAA_UNKNOWN ,  TGTYNNNNNRGCARM_UNKNOWN ,  HSF2_01 ,  GATA2_01 ,  SCGGAAGY_ELK1_02 ,  GATA4_Q3 ,  GTGGGTGK_UNKNOWN ,  AACTTT_UNKNOWN ,  GGGTGGRR_PAX4_03

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-142-5p ,  Predicted Gene Targets for miR-21 ,  Predicted Gene Targets for miR-329

Cytogenetic Map:

7q21.2

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