extracellular matrix protein FRAS1 (FRAS1, KIAA1500)

Structure

• belongs to the FRAS1 family
• contains 5 Calx-beta domains
  • conformational shift upon Ca+2 binding contains 12 CSPG repeats (NG2 repeats) contains 14 FU repeats (furin-like repeats) contains 6 VWFC domains

Compartment

• membrane

Alternative splicing

named isoforms=6

Expression

• expressed kidney, pancreas, thalamus > fetal kidney, heart

Pathology

• defects in FRAS1 are a cause of Fraser syndrome

More general terms

• Ca+2 binding protein
• membrane protein
• glycoprotein

Database

• OMIM: https://mirror.omim.org/entry/219000
• OMIM: https://mirror.omim.org/entry/607830
• UniProt: http://www.uniprot.org/uniprot/Q86XX4.html