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P21810 Proteins with LRR Repeats
Uniprot ID: P21810
Protein name : Biglycan
Gene : BGN SLRR1A
Protein Families : "Small leucine-rich proteoglycan (SLRP) family, SLRP class I subfamily"
Squence Length : 368
Sequence
>P21810 369 MWPLWRLVSLLALSQALPFEQRGFWDFTLDDGPFMMNDEEASGADTSGVLDPDSVTPTYSAMCPFGCHCHLRVVQCSDLGLKSVPKEISPDTTLLDLQNNDISELRKDDFKGLQHLYALVLVNNKISKIHEKAFSPLRKLQKLYISKNHLVEIPPNLPSSLVELRIHDNRIRKVPKGVFSGLRNMNCIEMGGNPLENSGFEPGAFDGLKLNYLRISEAKLTGIPKDLPETLNELHLDHNKIQAIELEDLLRYSKLYRLGLGHNQIRMIENGSLSFLPTLRELHLDNNKLARVPSGLPDLKLLQVVYLHSNNITKVGVNDFCPMGFGVKRAYYNGISLFNNPVPYWEVQPATFRCVTDRLAIQFGNYKK
Repeat regions
REPEAT 82 102 LRR 1 REPEAT 103 126 LRR 2 REPEAT 127 150 LRR 3 REPEAT 151 171 LRR 4 REPEAT 172 195 LRR 5 REPEAT 196 220 LRR 6 REPEAT 221 241 LRR 7 REPEAT 242 265 LRR 8 REPEAT 266 289 LRR 9 REPEAT 290 312 LRR 10 REPEAT 313 342 LRR 11 REPEAT 343 368 LRR 12
Sequence region of repeats
82- 102 VPKEISPDTTLLDLQNNDISE 103- 126 LRKDDFKGLQHLYALVLVNNKISK 127- 150 IHEKAFSPLRKLQKLYISKNHLVE 151- 171 IPPNLPSSLVELRIHDNRIRK 172- 195 VPKGVFSGLRNMNCIEMGGNPLEN 196- 220 SGFEPGAFDGLKLNYLRISEAKLTG 221- 241 IPKDLPETLNELHLDHNKIQA 242- 265 IELEDLLRYSKLYRLGLGHNQIRM 266- 289 IENGSLSFLPTLRELHLDNNKLAR 290- 312 VPSGLPDLKLLQVVYLHSNNITK 313- 342 VGVNDFCPMGFGVKRAYYNGISLFNNPVPY 343- 368 WEVQPATFRCVTDRLAIQFGNYKK
Function
May be involved in collagen fiber assembly
Disease
"DISEASE: Meester-Loeys syndrome (MRLS) [MIM:300989]: An X-linked, thoracic aortic aneurysm syndrome characterized by early-onset, severe aortic aneurysm and dissection Other recurrent findings include hypertelorism, pectus deformity, joint hypermobility, contractures, and mild skeletal dysplasia Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Spondyloepimetaphyseal dysplasia, X-linked (SEMDX) [MIM:300106]: A X-linked recessive bone disease characterized by severe short-trunk dwarfism, brachydactyly, metaphyseal flaring of lower extremities, short and broad long bone diaphyses, moderate platyspondyly, normal facies, and normal intelligence Note=The disease is caused by mutations affecting the gene represented in this entry"