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KRIT1 (KRIT1 ankyrin repeat containing)

Gene

889

KRIT1 ankyrin repeat containing

KRIT1

CAM, CCM1

7q21.2

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. [provided by RefSeq, Sep 2009]

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

Show/Hide all(1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT440350	hsa-miR-21-5p	HITS-CLIP	22473208

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 sprouting angiogenesis in primary endothelial cells. Promotes AKT phosphorylation in a NOTCH-dependent and independent manner, and inhibits ERK1/2 phosphorylation indirectly through activation of the DELTA-NOTCH cascade. Acts in concert with CDH5 to establish and maintain correct endothelial cell polarity and vascular lumen and these effects are mediated by recruitment and activation of the Par polarity complex and RAP1B. Required for the localization of phosphorylated PRKCZ, PARD3, TIAM1 and RAP1B to the cell junction, and cell junction stabilization. Plays a role in integrin signaling via its interaction with ITGB1BP1; this prevents the interaction between ITGB1 and ITGB1BP1. Microtubule-associated protein that binds to phosphatidylinositol 4,5-bisphosphate (PIP2)-containing membranes in a GTP-bound RAP1-dependent manner. Plays an important role in the maintenance of the intracellular reactive oxygen species (ROS) homeostasis to prevent oxidative cellular damage. Regulates the homeostasis of intracellular ROS through an antioxidant pathway involving FOXO1 and SOD2. Facilitates the down-regulation of cyclin-D1 (CCND1) levels required for cell transition from proliferative growth to quiescence by preventing the accumulation of intracellular ROS through the modulation of FOXO1 and SOD2 levels.

PDB

3U7D , 4DX8 , 4DXA , 4HDO , 4HDQ , 4JIF , 4TKN , 5D68 , 6OQ3 , 6OQ4 , 6UZK

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
SPLERIKTNVINPAYATESGQTENSLHMGYSALEIKSKMLALEKADTCIYNPLFGSDLQY
TNRVDKVVINPYFGLGAPDYSKIQIPKQEKWQRSMSSVTEDKERQWVDDFPLHRSACEGD
SELLSRLLSERFSVNQLDSDHWAPIHYACWYGKVEATRILLEKGKCNPNLLNGQLSSPLH
FAAGGGHAEIVQILLNHPETDRHITDQQGRSPLNICEENKQNNWEEAAKLLKEAINKPYE
KVRIYRMDGSYRSVELKHGNNTTVQQIMEGMRLSQETQQYFTIWICSENLSLQLKPYHKP
LQHVRDWPEILAELTNLDPQRETPQLFLRRDVRLPLEVEKQIEDPLAILILFDEARYNLL
KGFYTAPDAKLITLASLLLQIVYGNYESKKHKQGFLNEENLKSIVPVTKLKSKAPHWTNR
ILHEYKNLSTSEGVSKEMHHLQRMFLQNCWEIPTYGAAFFTGQIFTKASPSNHKVIPVYV
GVNIKGLHLLNMETKALLISLKYGCFMWQLGDTDTCFQIHSMENKMSFIVHTKQAGLVVK
LLMKLNGQLMPTERNS

Sequence length

736

Interactions

View interactions

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