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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	889
Gene name	KRIT1 ankyrin repeat containing
Gene symbol	KRIT1
Synonyms (NCBI Gene)	CAMCCM1
Chromosome	7
Chromosome location	7q21.2
Summary	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

134

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

218

Show/Hide all (218)

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 (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0001937	Process	Negative regulation of endothelial cell proliferation	IMP	20616044
GO:0003158	Process	Endothelium development	NAS	17657516
GO:0005515	Function	Protein binding	IPI	16037064, 17657516, 17916086, 20332120, 23007647, 25525273, 25814554, 25910212, 26780829, 27027284, 32296183, 33961781
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	IBA
GO:0005886	Component	Plasma membrane	IDA	17916086
GO:0005886	Component	Plasma membrane	IEA
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:0016020	Component	Membrane	IEA
GO:0016525	Process	Negative regulation of angiogenesis	IBA
GO:0016525	Process	Negative regulation of angiogenesis	IEA
GO:0016525	Process	Negative regulation of angiogenesis	IMP	20616044
GO:0030695	Function	GTPase regulator activity	IEA
GO:0030695	Function	GTPase regulator activity	TAS	9285558
GO:0032991	Component	Protein-containing complex	IEA
GO:0033622	Process	Integrin activation	IDA	23317506
GO:0045454	Process	Cell redox homeostasis	IBA
GO:0045454	Process	Cell redox homeostasis	IEA
GO:0045454	Process	Cell redox homeostasis	IMP	20668652
GO:0045765	Process	Regulation of angiogenesis	NAS	17657516
GO:0070161	Component	Anchoring junction	IEA
GO:2000114	Process	Regulation of establishment of cell polarity	IBA
GO:2000114	Process	Regulation of establishment of cell polarity	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

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

	KEGG
	Rap1 signaling pathway Adherens junction

683

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cavernous hemangioma	Likely pathogenic; Pathogenic	rs1554518790, rs1554527169	RCV000626869 RCV000626868
Cerebral cavernous malformation	Pathogenic; Likely pathogenic	rs2131087886, rs2131089190, rs2131307481, rs1563245596, rs2131437372, rs2131452462, rs2131454006, rs2131454682, rs2131510638, rs1796087833, rs2131526298, rs2131676374, rs751651833, rs1799516672, rs886039401 View all (194 more)	RCV001387454 RCV001388000 RCV001389076 RCV001380341 RCV001382575 RCV001388177 RCV001380312 RCV001381084 RCV001389497 RCV001385875 RCV001384331 RCV001384337 RCV001387434 RCV001382706 RCV001859366 RCV001844368 RCV001724743 RCV001728076 RCV001775286 RCV003633597 RCV001808167 RCV001965331 RCV001893428 RCV001864103 RCV001994524 RCV002037653 RCV002037712 RCV001941763 RCV001961923 RCV001958875 RCV001963065 RCV001919689 RCV001945591 RCV001946101 RCV002004435 RCV002000050 RCV001916221 RCV001962706 RCV001993373 RCV002007450 RCV001949093 RCV002002505 RCV001939354 RCV001960529 RCV001993487 RCV001956262 RCV001953539 RCV001951321 RCV001876581 RCV002471259 RCV004594625 RCV003523125 RCV002289378 RCV002290168 RCV002468737 RCV002468738 RCV003060121 RCV003037235 RCV002819546 RCV002820354 RCV002835249 RCV002835251 RCV002833812 RCV002512817 RCV000239441 RCV003444193 RCV001822994 RCV003522917 RCV000239438 RCV002889161 RCV002872141 RCV002881566 RCV002858198 RCV002847419 RCV002858372 RCV002866991 RCV002867882 RCV002994722 RCV002991544 RCV003019654 RCV003020296 RCV003035251 RCV003035104 RCV003051684 RCV003224698 RCV001065731 RCV001808723 RCV000552103 RCV002518752 RCV003144183 RCV000808275 RCV001217342 RCV000392041 RCV003387583 RCV003445411 RCV003523949 RCV003523222 RCV003524026 RCV003524088 RCV003524213 RCV003522230 RCV003524200 RCV003524137 RCV003524882 RCV003523653 RCV003525294 RCV003525295 RCV003525296 RCV003525297 RCV003525298 RCV003525299 RCV003525300 RCV003525301 RCV003524788 RCV003524521 RCV003634822 RCV003634928 RCV003635123 RCV003635347 RCV003633060 RCV003635387 RCV003633098 RCV003989051 RCV004560374 RCV000816950 RCV002470851 RCV000415415 RCV002524828 RCV001856823 RCV000593246 RCV000595798 RCV001381101 RCV000547853 RCV001065756 RCV005235372 RCV001857981 RCV003766963 RCV000559053 RCV000558177 RCV000559834 RCV000526370 RCV000542725 RCV000536000 RCV000552882 RCV000539490 RCV000525590 RCV000549458 RCV000546982 RCV000529814 RCV000545634 RCV000532224 RCV000798671 RCV001061598 RCV000624958 RCV000624959 RCV001007911 RCV001855338 RCV000644429 RCV000644430 RCV000681478 RCV000699269 RCV000703496 RCV000686360 RCV000686135 RCV000693414 RCV001239359 RCV003633535 RCV003523019 RCV005092118 RCV002067078 RCV005092116 RCV001066958 RCV003523018 RCV001868915 RCV003523017 RCV001385873 RCV001071022 RCV003523016 RCV001862106 RCV000814128 RCV001385874 RCV001038518 RCV003523015 RCV005092120 RCV001862108 RCV001241794 RCV001868916 RCV002535018 RCV001380231 RCV001211745 RCV002535017 RCV005092119 RCV000803135 RCV000821099 RCV000809461 RCV000805011 RCV000810646 RCV000808889 RCV000817555 RCV000851319 RCV000985202 RCV001043063 RCV001049339 RCV001051618 RCV001049427 RCV001041563 RCV001065572 RCV001063076 RCV001045097 RCV001062410 RCV001061102 RCV001050074 RCV001065715 RCV001197020 RCV001214816 RCV001212104 RCV001205466 RCV001211757 RCV001212146 RCV001229356 RCV001244933 RCV001243839 RCV001246709
Cerebral cavernous malformation 1	Likely pathogenic; Pathogenic	rs2131435199, rs2536005737, rs2536003797, rs2131309013, rs2131308132, rs2131309179, rs267607203, rs1563302930, rs137853139, rs137853140, rs267607204, rs886041209, rs1180476377	RCV002225242 RCV002472008 RCV002472208 RCV000006072 RCV000006073 RCV000006074 RCV000006075 RCV000006077 RCV000006079 RCV000006080 RCV000006082 RCV005600886 RCV001807642
Hereditary cavernous hemangioma of brain	Pathogenic	rs886039400, rs1057517753	RCV003993910 RCV003447526
Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations	Pathogenic	rs2131660732	RCV001807487
KRIT1-related disorder	Pathogenic; Likely pathogenic	rs776245507, rs2536012456, rs267607203, rs886039402, rs886039400, rs1462431994, rs2536012090, rs776024669, rs2535727004, rs1057518665, rs1331502949, rs1554514380, rs779465895	RCV003479375 RCV004731259 RCV004547460 RCV004547646 RCV004547645 RCV004548597 RCV004550657 RCV004550585 RCV004548990 RCV004755910 RCV004553228 RCV004553229 RCV004547916

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs74603220, rs200000378	RCV005915375 RCV005894365
Angiokeratoma corporis diffusum with arteriovenous fistulas	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs11542682, rs149754162, rs150912644, rs140009885, rs143710815, rs886062484, rs62467792, rs34910226, rs886062489, rs112567410, rs533696377, rs373763254, rs886062497, rs192818018, rs10240962 View all (73 more)	RCV000275757 RCV001158796 RCV000378263 RCV000344666 RCV000315082 RCV000268332 RCV000383665 RCV000380714 RCV000386988 RCV000333374 RCV000368618 RCV000357228 RCV000279229 RCV000377120 RCV000382791 RCV000310574 RCV000370385 RCV000371443 RCV000396102 RCV000266475 RCV000345963 RCV000305752 RCV000394322 RCV000367799 RCV000293924 RCV000398626 RCV000300683 RCV000266413 RCV000272660 RCV000334733 RCV000284634 RCV000274711 RCV000262613 RCV000369873 RCV000299657 RCV000386656 RCV000342319 RCV000275128 RCV000395370 RCV000265317 RCV000401065 RCV000304668 RCV000283819 RCV000265398 RCV000326139 RCV000292641 RCV000352259 RCV000298591 RCV000264517 RCV000325676 RCV000384932 RCV000294635 RCV000272135 RCV001158902 RCV001163712 RCV001163818 RCV001158794 RCV001165290 RCV001165292 RCV001158569 RCV001161783 RCV001161784 RCV001161786 RCV001163302 RCV001163305 RCV001163306 RCV001165410 RCV001158685 RCV001161897 RCV001161899 RCV001163422 RCV001163424 RCV001163709 RCV001163711 RCV001158792 RCV001160142 RCV001163823 RCV001158904 RCV001158905 RCV001160244 RCV001163613 RCV001160332 RCV001160334 RCV001161992 RCV001161993 RCV001164004 RCV001163816 RCV001163820 RCV001158993
Cholangiocarcinoma	Likely benign	rs1454191008	RCV005931926
Familial cancer of breast	Uncertain significance	rs769363711	RCV005937540
Malignant tumor of esophagus	Likely benign	rs200000378	RCV005894366
Ovarian serous cystadenocarcinoma	Uncertain significance; Conflicting classifications of pathogenicity	rs1793270392, rs138763545	RCV005932774 RCV005907110
Sarcoma	Likely benign; Conflicting classifications of pathogenicity	rs200000378, rs138763545	RCV005894367 RCV005907109
See cases	Uncertain significance	rs1161802228, rs557519259	RCV002252829 RCV003128505
Uterine carcinosarcoma	Benign	rs74603220	RCV005915376
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	rs138763545	RCV005907111
Vascular dementia	Uncertain significance	rs758188972	RCV001263177

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)