retinitis pigmentosa 1-like 1 protein (RP1L1)

Structure

• C-terminal part contains a large repetitive region rich in Gln, Gly, GLu 25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]- [AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI] -[AVIE]
• contains 2 doublecortin domains

Alternative splicing

named isoforms=2

Expression

• retinal-specific, expressed in photoreceptor cells

Polymorphism

• several length polymorphisms
• repeats with length of 16 amino acid residues TEEGLQEEGVQLEETK
• number of repeats is highly polymorphic,, ranging from 3-8

More general terms

• other protein

Database

• OMIM: https://mirror.omim.org/entry/608581
• UniProt: http://www.uniprot.org/uniprot/Q8IWN7.html