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

More general terms

• ankyrin repeat domain protein (ANKRD)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=889
• OMIM: https://mirror.omim.org/entry/116860
• OMIM: https://mirror.omim.org/entry/604214
• UniProt: http://www.uniprot.org/uniprot/O00522.html