extracellular matrix protein FRAS1 (FRAS1, KIAA1500)

Structure: 1) belongs to the FRAS1 family 2) 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

General

Ca+2 binding protein glycoprotein membrane protein

Properties

SIZE: MW = 443 kD entity length = 4007 aa COMPARTMENT: cellular membrane MOTIF: signal sequence {1-26} VWFC domain {27-88} VWFC domain {93-153} VWFC domain {157-217} VWFC domain {219-279} VWFC domain {283-343} VWFC domain {347-417} MOTIF: N-glycosylation site {N361} FU {409-1088} (14) CSPG {1089-2541} (12) Calx-beta 1 {2542-2645} MOTIF: N-glycosylation site {N2562} Calx-beta 2 {2658-2769} MOTIF: N-glycosylation site {N2663} N-glycosylation site {N2681} Calx-beta 3 {2783-2889} Calx-beta 4 {2904-3006} MOTIF: N-glycosylation site {N2907} N-glycosylation site {N2984} Calx-beta 5 {3024-3128} MOTIF: N-glycosylation site {N3069} N-glycosylation site {N3217} N-glycosylation site {N3675} N-glycosylation site {N3874} transmembrane domain {3901-3921}

Database Correlations

OMIM correlations MORBIDMAP 607830 UniProt Q86XX4 PFAM correlations