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Krev interaction trapped protein 1; Krev interaction trapped 1; cerebral cavernous malformations 1 protein (KRIT1, CCM1)
Function:
- interacts with RAP1A
Structure:
- contains 4 ANK repeats
- contains 1 FERM domain
Compartment:
- membrane; peripheral membrane protein
Alternative splicing: named isoforms=2
Expression:
- low levels in brain
- very weak expression found in heart & muscle
Pathology:
- defects in KRIT1 are the cause of cerebral cavernous malformations type 1
Related
KRIT1 gene mutation
General
ankyrin repeat domain protein (ANKRD)
Properties
SIZE: entity length = 736 aa
MW = 84 kD
COMPARTMENT: cytoplasm
MOTIF: ankyrin repeat
NAME: ankyrin repeat
SITE: 287-316
ankyrin repeat
NAME: ankyrin repeat
SITE: 320-350
ankyrin repeat
NAME: ankyrin repeat
SITE: 354-383
ankyrin repeat
NAME: ankyrin repeat
SITE: 388-419
FERM domain
NAME: FERM domain
SITE: 420-734
RAP1A binding {487-736}
Database Correlations
OMIM correlations
UniProt O00522
Pfam PF00373
Entrez Gene 889
References
- UniProt :accession O00522
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/KRIT1