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
KRIT1, ankyrin repeat containing
KRIT1, ankyrin repeat containing
KRIT1, ankyrin repeat containing
KRIT1, ankyrin repeat containing
KRIT1, ankyrin repeat containing
KRIT1, ankyrin repeat containing
KRIT1, ankyrin repeat containing
KRIT1, ankyrin repeat containing
KRIT1, ankyrin repeat containing
KRIT1, ankyrin repeat containing
KRIT1, ankyrin repeat containing
KRIT1, ankyrin repeat containing
KRIT1, ankyrin repeat containing
KRIT1, ankyrin repeat containing
KRIT1, ankyrin repeat containing
KRIT1, ankyrin repeat containing
KRIT1, ankyrin repeat containing
KRIT1, ankyrin repeat containing
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_001013406 NM_004912 NM_194454 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
OMIM
CCDS CCDS34679 CCDS5624
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas