Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	889
Gene name Gene Name - the full gene name approved by the HGNC.	KRIT1 ankyrin repeat containing
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KRIT1
Synonyms (NCBI Gene) Gene synonyms aliases	CAM, CCM1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CCM1
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q21.2
Summary Summary 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

Show/Hide all(134)

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
rs373763254	->T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs374303823	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs374662170	G>A	Likely-pathogenic	Coding sequence variant, intron variant, stop gained
rs549591728	C>T	Pathogenic	Splice donor variant
rs757560062	->A	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs764960797	G>A,C,T	Pathogenic	Missense variant, synonymous variant, intron variant, coding sequence variant, stop gained
rs770594592	CTTTT>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs771656368	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs779465895	G>A,C,T	Pathogenic	Intron variant
rs780114710	G>A,C	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs866982998	G>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs886039400	ACTT>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs886039401	C>G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs886039402	G>A	Pathogenic	Stop gained, coding sequence variant
rs886039571	T>C	Pathogenic	Splice acceptor variant
rs886039572	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs886039659	G>A	Pathogenic	Stop gained, coding sequence variant
rs886041209	TTCT>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs886041415	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041557	TGTTTGTTTTCTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041572	->A	Pathogenic	Coding sequence variant, frameshift variant
rs886043300	G>A	Pathogenic-likely-pathogenic, pathogenic	Stop gained, intron variant, coding sequence variant
rs965713946	T>C	Pathogenic	Splice acceptor variant
rs1041438637	T>C	Pathogenic	Intron variant
rs1057517752	AGTAATT>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1057517753	GTTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057517754	TTCTT>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1057518665	CT>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1057521140	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, coding sequence variant
rs1064793348	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1180476377	GAGA>-,GA	Pathogenic	Coding sequence variant, frameshift variant
rs1326827713	->AATG	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1331502949	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1554489785	C>G,T	Likely-pathogenic	Splice acceptor variant
rs1554490317	TC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554502838	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1554502927	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1554503009	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554503116	C>A	Pathogenic	Coding sequence variant, stop gained
rs1554503202	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554503702	T>A	Pathogenic	Coding sequence variant, stop gained
rs1554503705	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1554504484	TC>-	Pathogenic	Coding sequence variant, stop gained
rs1554504519	CCATAGACTATTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554512658	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554512816	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554513061	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554513070	C>A	Pathogenic	Splice acceptor variant
rs1554513911	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs1554514380	TAC>-	Pathogenic	Splice acceptor variant, coding sequence variant, intron variant
rs1554518369	TT>-	Likely-pathogenic	Intron variant
rs1554518386	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1554518541	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554518750	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554518783	C>T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs1554518790	C>T	Likely-pathogenic	Splice acceptor variant
rs1554527032	->A	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1554527169	G>C	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1554527779	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554527817	G>C	Pathogenic	Coding sequence variant, stop gained
rs1554527919	C>A	Pathogenic	Coding sequence variant, missense variant
rs1554527922	C>G,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1554527925	T>C	Pathogenic	Splice acceptor variant
rs1554528541	A>G	Pathogenic	Intron variant, splice donor variant
rs1554528662	G>C	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554529341	C>T	Pathogenic	Splice acceptor variant
rs1554539120	T>C	Pathogenic-likely-pathogenic, likely-pathogenic	Initiator codon variant, 5 prime UTR variant, missense variant
rs1563211361	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563211627	G>A	Pathogenic	Coding sequence variant, stop gained
rs1563211839	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563212150	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563239833	A>G	Likely-pathogenic	Splice donor variant
rs1563240592	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1563240821	GTAGGAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563242500	G>C	Pathogenic	Coding sequence variant, stop gained
rs1563242833	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563242899	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563243016	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563244596	ACTT>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs1563244618	C>T	Pathogenic	Intron variant
rs1563244629	T>G	Uncertain-significance, likely-pathogenic	Intron variant
rs1563244807	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563245191	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563245290	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1563245596	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1563263366	G>A	Pathogenic	Coding sequence variant, stop gained
rs1563263545	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1563263604	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563263905	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563264033	->AG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563264113	T>G	Likely-pathogenic	Splice acceptor variant
rs1563265838	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563265959	C>T	Pathogenic	Coding sequence variant, stop gained
rs1563266147	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563266163	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1563266256	AGACG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563266277	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563266658	TTCAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563266994	GAACT>TACA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563267100	C>T	Pathogenic	Splice acceptor variant
rs1563275256	CTTC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563275284	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563275562	TGTTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563279045	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563301305	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1563301527	->GT	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1563301954	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1563302930	A>T	Likely-pathogenic	Splice donor variant
rs1563302941	C>T	Pathogenic	Splice donor variant
rs1563302951	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563303222	ATTTG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563305064	C>T	Likely-pathogenic	Intron variant, splice donor variant
rs1563305269	G>C	Likely-pathogenic	Coding sequence variant, intron variant, stop gained
rs1563305588	->T	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1563305648	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1563306485	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563307239	C>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1563307254	C>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1563309967	TAGTATT>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1563313372	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1563321624	->GG	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1584800138	->AGATTTT	Pathogenic	Coding sequence variant, frameshift variant
rs1584807148	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1584873058	T>A	Pathogenic	Stop gained, coding sequence variant
rs1584881309	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584881660	C>A	Pathogenic	Stop gained, coding sequence variant
rs1584975743	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1584976350	TATT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584981589	->A	Pathogenic	Intron variant, coding sequence variant, frameshift variant

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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
MIRT1100902	hsa-miR-1283	CLIP-seq
MIRT1100903	hsa-miR-1297	CLIP-seq
MIRT1100904	hsa-miR-1322	CLIP-seq
MIRT1100905	hsa-miR-193a-5p	CLIP-seq
MIRT1100906	hsa-miR-21	CLIP-seq
MIRT1100907	hsa-miR-216a	CLIP-seq
MIRT1100908	hsa-miR-216b	CLIP-seq
MIRT1100909	hsa-miR-221	CLIP-seq
MIRT1100910	hsa-miR-222	CLIP-seq
MIRT1100911	hsa-miR-224	CLIP-seq
MIRT1100912	hsa-miR-23a	CLIP-seq
MIRT1100913	hsa-miR-23b	CLIP-seq
MIRT1100914	hsa-miR-23c	CLIP-seq
MIRT1100915	hsa-miR-26a	CLIP-seq
MIRT1100916	hsa-miR-26b	CLIP-seq
MIRT1100917	hsa-miR-3144-3p	CLIP-seq
MIRT1100918	hsa-miR-3163	CLIP-seq
MIRT1100919	hsa-miR-3180-5p	CLIP-seq
MIRT1100920	hsa-miR-329	CLIP-seq
MIRT1100921	hsa-miR-330-3p	CLIP-seq
MIRT1100922	hsa-miR-345	CLIP-seq
MIRT1100923	hsa-miR-3545-3p	CLIP-seq
MIRT1100924	hsa-miR-3605-5p	CLIP-seq
MIRT1100925	hsa-miR-362-3p	CLIP-seq
MIRT1100926	hsa-miR-365	CLIP-seq
MIRT1100927	hsa-miR-3663-5p	CLIP-seq
MIRT1100928	hsa-miR-3679-5p	CLIP-seq
MIRT1100929	hsa-miR-3686	CLIP-seq
MIRT1100930	hsa-miR-3922-5p	CLIP-seq
MIRT1100931	hsa-miR-3941	CLIP-seq
MIRT1100932	hsa-miR-409-3p	CLIP-seq
MIRT1100933	hsa-miR-410	CLIP-seq
MIRT1100934	hsa-miR-4457	CLIP-seq
MIRT1100935	hsa-miR-4465	CLIP-seq
MIRT1100936	hsa-miR-4477a	CLIP-seq
MIRT1100937	hsa-miR-4506	CLIP-seq
MIRT1100938	hsa-miR-4635	CLIP-seq
MIRT1100939	hsa-miR-466	CLIP-seq
MIRT1100940	hsa-miR-4670-3p	CLIP-seq
MIRT1100941	hsa-miR-4672	CLIP-seq
MIRT1100942	hsa-miR-4680-5p	CLIP-seq
MIRT1100943	hsa-miR-4693-3p	CLIP-seq
MIRT1100944	hsa-miR-4714-5p	CLIP-seq
MIRT1100945	hsa-miR-4753-5p	CLIP-seq
MIRT1100946	hsa-miR-4778-5p	CLIP-seq
MIRT1100947	hsa-miR-4803	CLIP-seq
MIRT1100948	hsa-miR-513b	CLIP-seq
MIRT1100949	hsa-miR-520a-5p	CLIP-seq
MIRT1100950	hsa-miR-520d-5p	CLIP-seq
MIRT1100951	hsa-miR-524-5p	CLIP-seq
MIRT1100952	hsa-miR-525-5p	CLIP-seq
MIRT1100953	hsa-miR-539	CLIP-seq
MIRT1100954	hsa-miR-548aa	CLIP-seq
MIRT1100955	hsa-miR-580	CLIP-seq
MIRT1100956	hsa-miR-590-5p	CLIP-seq
MIRT1100957	hsa-miR-603	CLIP-seq
MIRT1100958	hsa-miR-617	CLIP-seq
MIRT1100959	hsa-miR-656	CLIP-seq
MIRT1100960	hsa-miR-938	CLIP-seq
MIRT1100961	hsa-miR-944	CLIP-seq
MIRT1100962	hsa-miR-125a-3p	CLIP-seq
MIRT1100901	hsa-miR-1272	CLIP-seq
MIRT1100963	hsa-miR-1273g	CLIP-seq
MIRT1100964	hsa-miR-129-5p	CLIP-seq
MIRT1100903	hsa-miR-1297	CLIP-seq
MIRT1100965	hsa-miR-132	CLIP-seq
MIRT1100904	hsa-miR-1322	CLIP-seq
MIRT1100905	hsa-miR-193a-5p	CLIP-seq
MIRT1100966	hsa-miR-212	CLIP-seq
MIRT1100915	hsa-miR-26a	CLIP-seq
MIRT1100916	hsa-miR-26b	CLIP-seq
MIRT1100967	hsa-miR-299-3p	CLIP-seq
MIRT1100922	hsa-miR-345	CLIP-seq
MIRT1100968	hsa-miR-3658	CLIP-seq
MIRT1100969	hsa-miR-3671	CLIP-seq
MIRT1100970	hsa-miR-3921	CLIP-seq
MIRT1100971	hsa-miR-3934	CLIP-seq
MIRT1100972	hsa-miR-4272	CLIP-seq
MIRT1100973	hsa-miR-4454	CLIP-seq
MIRT1100935	hsa-miR-4465	CLIP-seq
MIRT1100974	hsa-miR-4491	CLIP-seq
MIRT1100937	hsa-miR-4506	CLIP-seq
MIRT1100975	hsa-miR-4653-5p	CLIP-seq
MIRT1100976	hsa-miR-4657	CLIP-seq
MIRT1100977	hsa-miR-4666-3p	CLIP-seq
MIRT1100944	hsa-miR-4714-5p	CLIP-seq
MIRT1100945	hsa-miR-4753-5p	CLIP-seq
MIRT1100978	hsa-miR-4762-5p	CLIP-seq
MIRT1100979	hsa-miR-4763-5p	CLIP-seq
MIRT1100980	hsa-miR-4766-5p	CLIP-seq
MIRT1100981	hsa-miR-4775	CLIP-seq
MIRT1100982	hsa-miR-488	CLIP-seq
MIRT1100983	hsa-miR-548a-5p	CLIP-seq
MIRT1100984	hsa-miR-548ab	CLIP-seq
MIRT1100985	hsa-miR-548ak	CLIP-seq
MIRT1100986	hsa-miR-548b-5p	CLIP-seq
MIRT1100987	hsa-miR-548c-5p	CLIP-seq
MIRT1100988	hsa-miR-548d-5p	CLIP-seq
MIRT1100989	hsa-miR-548h	CLIP-seq
MIRT1100990	hsa-miR-548i	CLIP-seq
MIRT1100991	hsa-miR-548j	CLIP-seq
MIRT1100992	hsa-miR-548w	CLIP-seq
MIRT1100993	hsa-miR-548y	CLIP-seq
MIRT1100994	hsa-miR-559	CLIP-seq
MIRT1100995	hsa-miR-579	CLIP-seq
MIRT1100996	hsa-miR-590-3p	CLIP-seq
MIRT1100997	hsa-miR-593	CLIP-seq
MIRT1100998	hsa-miR-607	CLIP-seq
MIRT1100958	hsa-miR-617	CLIP-seq
MIRT1100999	hsa-miR-764	CLIP-seq
MIRT1100961	hsa-miR-944	CLIP-seq
MIRT1100942	hsa-miR-4680-5p	CLIP-seq
MIRT2027488	hsa-miR-106a	CLIP-seq
MIRT2027489	hsa-miR-106b	CLIP-seq
MIRT2027490	hsa-miR-1287	CLIP-seq
MIRT2027491	hsa-miR-150	CLIP-seq
MIRT2027492	hsa-miR-17	CLIP-seq
MIRT2027493	hsa-miR-197	CLIP-seq
MIRT2027494	hsa-miR-20a	CLIP-seq
MIRT2027495	hsa-miR-20b	CLIP-seq
MIRT1100906	hsa-miR-21	CLIP-seq
MIRT2027496	hsa-miR-24	CLIP-seq
MIRT2027497	hsa-miR-302a	CLIP-seq
MIRT2027498	hsa-miR-302b	CLIP-seq
MIRT2027499	hsa-miR-302c	CLIP-seq
MIRT2027500	hsa-miR-302d	CLIP-seq
MIRT2027501	hsa-miR-302e	CLIP-seq
MIRT2027502	hsa-miR-3129-3p	CLIP-seq
MIRT2027503	hsa-miR-3135b	CLIP-seq
MIRT2027504	hsa-miR-3187-3p	CLIP-seq
MIRT1100927	hsa-miR-3663-5p	CLIP-seq
MIRT2027505	hsa-miR-3674	CLIP-seq
MIRT2027506	hsa-miR-372	CLIP-seq
MIRT2027507	hsa-miR-373	CLIP-seq
MIRT2027508	hsa-miR-3926	CLIP-seq
MIRT2027509	hsa-miR-423-3p	CLIP-seq
MIRT2027510	hsa-miR-4284	CLIP-seq
MIRT2027511	hsa-miR-4435	CLIP-seq
MIRT2027512	hsa-miR-4701-5p	CLIP-seq
MIRT2027513	hsa-miR-4716-5p	CLIP-seq
MIRT2027514	hsa-miR-4732-5p	CLIP-seq
MIRT2027515	hsa-miR-4755-3p	CLIP-seq
MIRT1100978	hsa-miR-4762-5p	CLIP-seq
MIRT2027516	hsa-miR-4781-3p	CLIP-seq
MIRT2027517	hsa-miR-4792	CLIP-seq
MIRT2027518	hsa-miR-5095	CLIP-seq
MIRT2027519	hsa-miR-5096	CLIP-seq
MIRT2027520	hsa-miR-512-3p	CLIP-seq
MIRT2027521	hsa-miR-519d	CLIP-seq
MIRT2027522	hsa-miR-520a-3p	CLIP-seq
MIRT2027523	hsa-miR-520b	CLIP-seq
MIRT2027524	hsa-miR-520c-3p	CLIP-seq
MIRT2027525	hsa-miR-520d-3p	CLIP-seq
MIRT2027526	hsa-miR-520e	CLIP-seq
MIRT2027527	hsa-miR-520g	CLIP-seq
MIRT2027528	hsa-miR-520h	CLIP-seq
MIRT1100983	hsa-miR-548a-5p	CLIP-seq
MIRT1100984	hsa-miR-548ab	CLIP-seq
MIRT1100985	hsa-miR-548ak	CLIP-seq
MIRT1100986	hsa-miR-548b-5p	CLIP-seq
MIRT1100987	hsa-miR-548c-5p	CLIP-seq
MIRT1100988	hsa-miR-548d-5p	CLIP-seq
MIRT1100989	hsa-miR-548h	CLIP-seq
MIRT1100990	hsa-miR-548i	CLIP-seq
MIRT1100991	hsa-miR-548j	CLIP-seq
MIRT2027529	hsa-miR-548n	CLIP-seq
MIRT2027530	hsa-miR-548s	CLIP-seq
MIRT1100992	hsa-miR-548w	CLIP-seq
MIRT1100993	hsa-miR-548y	CLIP-seq
MIRT1100994	hsa-miR-559	CLIP-seq
MIRT2027531	hsa-miR-588	CLIP-seq
MIRT1100956	hsa-miR-590-5p	CLIP-seq
MIRT2027532	hsa-miR-93	CLIP-seq
MIRT2027496	hsa-miR-24	CLIP-seq
MIRT2258816	hsa-miR-4258	CLIP-seq
MIRT2027510	hsa-miR-4284	CLIP-seq
MIRT1100973	hsa-miR-4454	CLIP-seq
MIRT2258817	hsa-miR-4707-3p	CLIP-seq
MIRT1100979	hsa-miR-4763-5p	CLIP-seq
MIRT1100942	hsa-miR-4680-5p	CLIP-seq
MIRT1100954	hsa-miR-548aa	CLIP-seq
MIRT2559495	hsa-miR-1343	CLIP-seq
MIRT2559496	hsa-miR-142-5p	CLIP-seq
MIRT2027496	hsa-miR-24	CLIP-seq
MIRT2559497	hsa-miR-3149	CLIP-seq
MIRT2559498	hsa-miR-320a	CLIP-seq
MIRT2559499	hsa-miR-320b	CLIP-seq
MIRT2559500	hsa-miR-320c	CLIP-seq
MIRT2559501	hsa-miR-320d	CLIP-seq
MIRT2559502	hsa-miR-340	CLIP-seq
MIRT2258816	hsa-miR-4258	CLIP-seq
MIRT2027510	hsa-miR-4284	CLIP-seq
MIRT2559503	hsa-miR-4429	CLIP-seq
MIRT2559504	hsa-miR-4503	CLIP-seq
MIRT2258817	hsa-miR-4707-3p	CLIP-seq
MIRT2559505	hsa-miR-4735-5p	CLIP-seq
MIRT1100981	hsa-miR-4775	CLIP-seq
MIRT1100996	hsa-miR-590-3p	CLIP-seq
MIRT2559506	hsa-miR-629	CLIP-seq
MIRT2559496	hsa-miR-142-5p	CLIP-seq
MIRT2027496	hsa-miR-24	CLIP-seq
MIRT2559498	hsa-miR-320a	CLIP-seq
MIRT2559499	hsa-miR-320b	CLIP-seq
MIRT2559500	hsa-miR-320c	CLIP-seq
MIRT2559501	hsa-miR-320d	CLIP-seq
MIRT2559502	hsa-miR-340	CLIP-seq
MIRT2258816	hsa-miR-4258	CLIP-seq
MIRT2027510	hsa-miR-4284	CLIP-seq
MIRT2559503	hsa-miR-4429	CLIP-seq
MIRT2258817	hsa-miR-4707-3p	CLIP-seq
MIRT2559505	hsa-miR-4735-5p	CLIP-seq
MIRT1100981	hsa-miR-4775	CLIP-seq
MIRT1100996	hsa-miR-590-3p	CLIP-seq

Show/Hide all(18)

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
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA	17916086
GO:0005911	Component	Cell-cell junction	IDA	20332120, 23007647
GO:0007264	Process	Small GTPase mediated signal transduction	TAS	9285558
GO:0008017	Function	Microtubule binding	IDA	17916086
GO:0010596	Process	Negative regulation of endothelial cell migration	IMP	20616044
GO:0016525	Process	Negative regulation of angiogenesis	IMP	20616044
GO:0030695	Function	GTPase regulator activity	TAS	9285558
GO:0045454	Process	Cell redox homeostasis	IMP	20668652
GO:0050790	Process	Regulation of catalytic activity	IEA
GO:2000114	Process	Regulation of establishment of cell polarity	IMP	20332120
GO:2000352	Process	Negative regulation of endothelial cell apoptotic process	IMP	20616044

MIM	HGNC	e!Ensembl
604214	1573	ENSG00000001631

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

Tissue specificity

TISSUE SPECIFICITY: Low levels in brain. Very weak expression found in heart and muscle. {ECO:0000269|PubMed:9285558}.

Sequence

MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQG
NSEITQGILDYVVETTKPISPANQGIRGKRVVLMKKFPLDGEKMGREASLFIVPSVVKDN
TKYTYTPGCPIFYCLQDIMRVCSESSTHFATLTARMLIALDKWLDERHAQSHFIPALFRP
SPLERIKTNVINPAYATESGQTENSLHMGYSALEIKSKMLALEKADTCIYNPLFGSDLQY
TNRVDKVVINPYFGLGAPDYSKIQIPKQEKWQRSMSSVTEDKERQWVDDFPLHRSACEGD
SELLSRLLSERFSVNQLDSDHWAPIHYACWYGKVEATRILLEKGKCNPNLLNGQLSSPLH
FAAGGGHAEIVQILLNHPETDRHITDQQGRSPLNICEENKQNNWEEAAKLLKEAINKPYE
KVRIYRMDGSYRSVELKHGNNTTVQQIMEGMRLSQETQQYFTIWICSENLSLQLKPYHKP
LQHVRDWPEILAELTNLDPQRETPQLFLRRDVRLPLEVEKQIEDPLAILILFDEARYNLL
KGFYTAPDAKLITLASLLLQIVYGNYESKKHKQGFLNEENLKSIVPVTKLKSKAPHWTNR
ILHEYKNLSTSEGVSKEMHHLQRMFLQNCWEIPTYGAAFFTGQIFTKASPSNHKVIPVYV
GVNIKGLHLLNMETKALLISLKYGCFMWQLGDTDTCFQIHSMENKMSFIVHTKQAGLVVK
LLMKLNGQLMPTERNS

Sequence length

736

Interactions

View interactions

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Evidence	Source
Unknown
Cerebral Cavernous Malformation	cerebral cavernous malformation 1		GenCC
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients	GWAS, CBGDA

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text Mining
Brain Diseases	Associate	24401931
Brain Stem Neoplasms	Associate	36629374
Breast Neoplasms	Associate	35431232
Cerebral Cavernous Malformations 2	Associate	25525273
Cerebral sarcoma	Associate	19182478
Choroideremia	Associate	26795600
Corneal Endothelial Cell Loss	Associate	20181950
Epilepsy	Associate	22699465
Familial cerebral cavernous malformation	Associate	22699465, 24265337, 24401931, 25472749, 25556204, 26795600, 28318403, 29145060, 36580209, 36629374, 38420834
Hemangioma	Associate	33651268
Hemangioma Cavernous Central Nervous System	Associate	11459890, 12877753, 14624391, 14740320, 15543491, 17160895, 19088123, 19182478, 19574835, 19760287, 20181950, 20306072, 20798775, 20862502, 21029238 View all (34 more)
Hemangioma Cavernous Central Nervous System	Stimulate	32186778
Hemorrhage	Associate	33891857
Hemorrhagic Stroke	Associate	24684205
Hyperkeratotic Cutaneous Capillary Venous Malformations Associated With Cerebral Capillary Malformations	Associate	19182478
Leukemia Myeloid Acute	Associate	31164492
Leukoencephalopathies	Associate	25556204
Mouth Diseases	Associate	33891857
Neoplasms	Inhibit	19088123
Neoplasms	Associate	23872064
Retinitis	Associate	20306072
Sinus Thrombosis Intracranial	Associate	36580209
Stroke	Associate	32106772, 36580209
Vascular Diseases	Associate	19182478, 28181149
Venous Malformations Multiple Cutaneous and Mucosal	Associate	19182478

KRIT1 (KRIT1 ankyrin repeat containing)