Version 5.4
Homo sapiens Gene: KRIT1
Summary
InnateDB Gene IDBG-26317.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KRIT1
Gene Name KRIT1, ankyrin repeat containing
Synonyms CAM; CCM1
Species Homo sapiens
Ensembl Gene ENSG00000001631
Encoded Proteins
IDBP-26319
KRIT1, ankyrin repeat containing
IDBP-241409
KRIT1, ankyrin repeat containing
IDBP-241411
KRIT1, ankyrin repeat containing
IDBP-241413
KRIT1, ankyrin repeat containing
IDBP-381728
KRIT1, ankyrin repeat containing
IDBP-381731
KRIT1, ankyrin repeat containing
IDBP-381733
KRIT1, ankyrin repeat containing
IDBP-381735
KRIT1, ankyrin repeat containing
IDBP-381739
KRIT1, ankyrin repeat containing
IDBP-381740
KRIT1, ankyrin repeat containing
IDBP-381741
KRIT1, ankyrin repeat containing
IDBP-381742
KRIT1, ankyrin repeat containing
IDBP-381744
KRIT1, ankyrin repeat containing
IDBP-381745
KRIT1, ankyrin repeat containing
IDBP-381747
KRIT1, ankyrin repeat containing
IDBP-381748
KRIT1, ankyrin repeat containing
IDBP-381750
KRIT1, ankyrin repeat containing
IDBP-381753
KRIT1, ankyrin repeat containing
IDBP-812009
KRIT1, ankyrin repeat containing
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:92198969-92246166
Strand Reverse strand
Band q21.2
Transcripts
ENST00000340022 ENSP00000344668
ENST00000394507 ENSP00000378015
ENST00000394505 ENSP00000378013
ENST00000394503 ENSP00000378011
ENST00000412043 ENSP00000410909
ENST00000445516 ENSP00000404084
ENST00000458177 ENSP00000391675
ENST00000433016 ENSP00000410104
ENST00000454017 ENSP00000405835
ENST00000440209 ENSP00000396042
ENST00000430102 ENSP00000391540
ENST00000413688 ENSP00000410467
ENST00000458493 ENSP00000396352
ENST00000452773 ENSP00000395346
ENST00000425919 ENSP00000414694
ENST00000444960 ENSP00000388076
ENST00000422347 ENSP00000395604
ENST00000425073 ENSP00000404790
ENST00000486261
ENST00000475770
ENST00000487168
ENST00000470309
ENST00000466166
ENST00000489087
ENST00000611677 ENSP00000478777
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 19 [view]
Protein-Protein 19 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005083 small GTPase regulator activity
GO:0005515 protein binding
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0008017 microtubule binding
GO:0032403 protein complex binding
Biological Process
GO:0001525 angiogenesis
GO:0001937 negative regulation of endothelial cell proliferation
GO:0007264 small GTPase mediated signal transduction
GO:0010596 negative regulation of endothelial cell migration
GO:0016525 negative regulation of angiogenesis
GO:0032092 positive regulation of protein binding
GO:0045454 cell redox homeostasis
GO:0050790 regulation of catalytic activity
GO:2000114 regulation of establishment of cell polarity
GO:2000352 negative regulation of endothelial cell apoptotic process
Cellular Component
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0043234 protein complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000000600
View Gene Order
ENSBTAG00000002750
Not yet available
Cross-References
SwissProt O00522
TrEMBL A4D1F7 C9J3W7 C9J718 C9JBN7 C9JD81 C9JEW7 C9JF32 C9JI47 C9JJM9 C9JSG7 C9JXI9
UniProt Splice Variant
Entrez Gene 889
UniGene Hs.531987
RefSeq NM_194454 NM_001013406 NM_004912 NM_194455 NM_194456 XM_005250660 XM_005250662 XM_005250663 XM_005250665 XM_005250666 XM_005250667 XM_006716160 XM_006716161 XM_006716162 XM_006716163 XM_006716164
HUGO HGNC:1573
OMIM 604214
CCDS CCDS5624 CCDS34679
HPRD 05020
IMGT
EMBL AC000120 AF296765 AF310133 AF388384 AJ294850 AK055305 AK056537 AY380057 AY993945 BC094684 BC098442 CH236949 CH471091 U90268 U90269
GenPept AAB58582 AAC01535 AAG10220 AAG47774 AAH94684 AAH98442 AAM19465 AAQ94072 AAS07420 AAY25568 BAG51497 BAG51741 CAC17608 EAL24152 EAW76855
RNA Seq Atlas 889

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca