HOME
BACK
Q9NS15 Proteins EGF-like domain Repeats
Uniprot ID:Q9NS15
Protein name: Latent-transforming growth factor beta-binding protein 3
Gene : LTBP3
Protein Family:LTBP family
Squence Length : 1303
Sequnce
>Q9NS15 1304 MPGPRGAAGGLAPEMRGAGAAGLLALLLLLLLLLLGLGGRVEGGPAGERGAGGGGALARERFKVVFAPVICKRTCLKGQCRDSCQQGSNMTLIGENGHSTDTLTGSGFRVVVCPLPCMNGGQCSSRNQCLCPPDFTGRFCQVPAGGAGGGTGGSGPGLSRTGALSTGALPPLAPEGDSVASKHAIYAVQVIADPPGPGEGPPAQHAAFLVPLGPGQISAEVQAPPPVVNVRVHHPPEASVQVHRIESSNAESAAPSQHLLPHPKPSHPRPPTQKPLGRCFQDTLPKQPCGSNPLPGLTKQEDCCGSIGTAWGQSKCHKCPQLQYTGVQKPGPVRGEVGADCPQGYKRLNSTHCQDINECAMPGVCRHGDCLNNPGSYRCVCPPGHSLGPSRTQCIADKPEEKSLCFRLVSPEHQCQHPLTTRLTRQLCCCSVGKAWGARCQRCPTDGTAAFKEICPAGKGYHILTSHQTLTIQGESDFSLFLHPDGPPKPQQLPESPSQAPPPEDTEEERGVTTDSPVSEERSVQQSHPTATTTPARPYPELISRPSPPTMRWFLPDLPPSRSAVEIAPTQVTETDECRLNQNICGHGECVPGPPDYSCHCNPGYRSHPQHRYCVDVNECEAEPCGPGRGICMNTGGSYNCHCNRGYRLHVGAGGRSCVDLNECAKPHLCGDGGFCINFPGHYKCNCYPGYRLKASRPPVCEDIDECRDPSSCPDGKCENKPGSFKCIACQPGYRSQGGGACRDVNECAEGSPCSPGWCENLPGSFRCTCAQGYAPAPDGRSCLDVDECEAGDVCDNGICSNTPGSFQCQCLSGYHLSRDRSHCEDIDECDFPAACIGGDCINTNGSYRCLCPQGHRLVGGRKCQDIDECSQDPSLCLPHGACKNLQGSYVCVCDEGFTPTQDQHGCEEVEQPHHKKECYLNFDDTVFCDSVLATNVTQQECCCSLGAGWGDHCEIYPCPVYSSAEFHSLCPDGKGYTQDNNIVNYGIPAHRDIDECMLFGSEICKEGKCVNTQPGYECYCKQGFYYDGNLLECVDVDECLDESNCRNGVCENTRGGYRCACTPPAEYSPAQRQCLSPEEMDVDECQDPAACRPGRCVNLPGSYRCECRPPWVPGPSGRDCQLPESPAERAPERRDVCWSQRGEDGMCAGPLAGPALTFDDCCCRQGRGWGAQCRPCPPRGAGSHCPTSQSESNSFWDTSPLLLGKPPRDEDSSEEDSDECRCVSGRCVPRPGGAVCECPGGFQLDASRARCVDIDECRELNQRGLLCKSERCVNTSGSFRCVCKAGFARSRPHGACVPQRRR
Domains
DOMAIN 109 141 EGF-like 1 DOMAIN 277 331 TB 1 DOMAIN 355 395 EGF-like 2 calcium-binding DOMAIN 403 455 TB 2 DOMAIN 574 615 EGF-like 3 DOMAIN 616 659 EGF-like 4 calcium-binding DOMAIN 660 702 EGF-like 5 calcium-binding DOMAIN 744 784 EGF-like 6 calcium-binding DOMAIN 785 825 EGF-like 7 calcium-binding DOMAIN 826 865 EGF-like 8 calcium-binding DOMAIN 866 908 EGF-like 9 calcium-binding DOMAIN 917 971 TB 3 DOMAIN 993 1035 EGF-like 10 calcium-binding DOMAIN 1036 1076 EGF-like 11 calcium-binding DOMAIN 1082 1122 EGF-like 12 calcium-binding DOMAIN 1136 1186 TB 4 DOMAIN 1254 1298 EGF-like 13 calcium-binding
EGF-like sequence regions
109 - 141 VVCPLPCMNGGQCSSRNQCLCPPDFTGRFCQVP 355 - 395 NECAMPGVCRHGDCLNNPGSYRCVCPPGHSLGPSRTQCIAD 574 - 615 DECRLNQNICGHGECVPGPPDYSCHCNPGYRSHPQHRYCVDV 616 - 659 NECEAEPCGPGRGICMNTGGSYNCHCNRGYRLHVGAGGRSCVDL 660 - 702 NECAKPHLCGDGGFCINFPGHYKCNCYPGYRLKASRPPVCEDI 744 - 784 NECAEGSPCSPGWCENLPGSFRCTCAQGYAPAPDGRSCLDV 785 - 825 DECEAGDVCDNGICSNTPGSFQCQCLSGYHLSRDRSHCEDI 826 - 865 DECDFPAACIGGDCINTNGSYRCLCPQGHRLVGGRKCQDI 866 - 908 DECSQDPSLCLPHGACKNLQGSYVCVCDEGFTPTQDQHGCEEV 993 - 1035 DECMLFGSEICKEGKCVNTQPGYECYCKQGFYYDGNLLECVDV 1036 - 1076 DECLDESNCRNGVCENTRGGYRCACTPPAEYSPAQRQCLSP 1082 - 1122 DECQDPAACRPGRCVNLPGSYRCECRPPWVPGPSGRDCQLP 1254 - 1298 DECRELNQRGLLCKSERCVNTSGSFRCVCKAGFARSRPHGACVPQ
Function
"May be involved in the assembly, secretion and targeting of TGFB1 to sites at which it is stored and/or activated. May play critical roles in controlling and directing the activity of TGFB1. May have a structural role in the extracellular matrix (ECM)"
Disease
"DISEASE: Dental anomalies and short stature (DASS) [MIM:601216]: A disorder characterized by hypoplastic amelogenesis imperfecta, significant short stature, brachyolmia-like anomalies including platyspondyly with short pedicles, narrow intervertebral and interpedicular distances, rectangular-shaped vertebrae with posterior scalloping and herniation of the nuclei, and broad femoral necks Dental anomalies include widely spaced, small, yellow teeth, oligodontia, and severely reduced to absent enamel Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Geleophysic dysplasia 3 (GPHYSD3) [MIM:617809]: A form of geleophysic dysplasia, a rare skeletal disease characterized by severe short stature, short hands and feet, and joint limitations Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip Other distinctive features include skin thickening, progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues GPHYSD3 inheritance is autosomal dominant Note=The disease is caused by mutations affecting the gene represented in this entry"