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KRIT1 (KRIT1 ankyrin repeat containing)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
889
Gene nameGene Name - the full gene name approved by the HGNC.
KRIT1 ankyrin repeat containing
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
KRIT1
SynonymsGene synonyms aliases
CAM, CCM1
ChromosomeChromosome number
7
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q21.2
SummarySummary of gene provided in NCBI Entrez Gene.
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 prot
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs34358665 C>T Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign Missense variant, coding sequence variant, 5 prime UTR variant
rs137853139 T>C Pathogenic Missense variant, coding sequence variant, 5 prime UTR variant
rs137853140 G>C Pathogenic Missense variant, intron variant, coding sequence variant
rs267607203 G>A,C Pathogenic Missense variant, coding sequence variant, stop gained
rs267607204 G>T Pathogenic Coding sequence variant, intron variant, stop gained
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT440350 hsa-miR-21-5p HITS-CLIP 22473208
MIRT440350 hsa-miR-21-5p HITS-CLIP 22473208
MIRT1100899 hsa-miR-1185 CLIP-seq
MIRT1100900 hsa-miR-1257 CLIP-seq
MIRT1100901 hsa-miR-1272 CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0001937 Process Negative regulation of endothelial cell proliferation IMP 20616044
GO:0005515 Function Protein binding IPI 16037064, 17657516, 17916086, 20332120, 23007647, 25525273, 25814554, 25910212, 26780829, 27027284, 32296183
GO:0005546 Function Phosphatidylinositol-4,5-bisphosphate binding IDA 17916086
GO:0005615 Component Extracellular space HDA 22664934
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID O00522
Protein name Krev interaction trapped protein 1 (Krev interaction trapped 1) (Cerebral cavernous malformations 1 protein)
Protein function Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity (By similarity). Negative regulator of angiogenesis. Inhibits endothelial proliferation, apoptosis, migration, lumen formation and sp
PDB 3U7D , 4DX8 , 4DXA , 4HDO , 4HDQ , 4JIF , 4TKN , 5D68 , 6OQ3 , 6OQ4 , 6UZK , 8SU8 , 8T09 , 8T7V
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16705 NUDIX_5
22 198
NUDIX, or N-terminal NPxY motif-rich, region of KRIT
Domain
PF00023 Ank
320 352
Ankyrin repeat
Repeat
PF00373 FERM_M
517 640
FERM central domain
Domain
Sequence
MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQG
NSEITQGILDYVVETTKPISPANQGIRGKRVVLMKKFPLDGEKMGREASLFIVPSVVKDN
TKYTYTPGCPIFYCLQDIMRVCSESSTHFATLTARMLIALDKWLDERHAQSHFIPALFRP
SPLERIKTNVINPAYATE
SGQTENSLHMGYSALEIKSKMLALEKADTCIYNPLFGSDLQY
TNRVDKVVINPYFGLGAPDYSKIQIPKQEKWQRSMSSVTEDKERQWVDDFPLHRSACEGD
SELLSRLLSERFSVNQLDSDHWAPIHYACWYGKVEATRILLEKGKCNPNLLNGQLSSPLH
FAAGGGHAEIVQILLNHPETDRHITDQQGRSPLNICEENKQNNWEEAAKLLKEAINKPYE
KVRIYRMDGSYRSVELKHGNNTTVQQIMEGMRLSQETQQYFTIWICSENLSLQLKPYHKP
LQHVRDWPEILAELTNLDPQRETPQLFLRRDVRLPLEVEKQIEDPLAILILFDEARYNLL
KGFYTAPDAKLITLASLLLQIVYGNYESKKHKQGFLNEENLKSIVPVTKLKSKAPHWTNR
ILHEYKNLSTSEGVSKEMHHLQRMFLQNCWEIPTYGAAFF
TGQIFTKASPSNHKVIPVYV
GVNIKGLHLLNMETKALLISLKYGCFMWQLGDTDTCFQIHSMENKMSFIVHTKQAGLVVK
LLMKLNGQLMPTERNS
Sequence length 736
Interactions View interactions

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