BGN
entrez
633
canonical
uniprot
P21810
canonical
ensembl
ENSG00000182492
resolver
ensp
ENSP00000327336
resolver
ensp
ENSP00000529782
resolver
ensp
ENSP00000529783
resolver
ensp
ENSP00000529784
resolver
ensp
ENSP00000529785
resolver
ensp
ENSP00000529786
resolver
ensp
ENSP00000529787
resolver
ensp
ENSP00000529788
resolver
ensp
ENSP00000529790
resolver
ensp
ENSP00000529793
resolver
ensp
ENSP00000529794
resolver
ensp
ENSP00000529795
resolver
ensp
ENSP00000529800
resolver
ensp
ENSP00000641862
resolver
ensp
ENSP00000641863
resolver
enst
ENST00000331595
resolver
enst
ENST00000859723
resolver
enst
ENST00000859724
resolver
enst
ENST00000859725
resolver
enst
ENST00000859726
resolver
enst
ENST00000859727
resolver
enst
ENST00000859728
resolver
enst
ENST00000859729
resolver
enst
ENST00000859731
resolver
enst
ENST00000859734
resolver
enst
ENST00000859735
resolver
enst
ENST00000859736
resolver
enst
ENST00000859741
resolver
enst
ENST00000971803
resolver
enst
ENST00000971804
resolver
genesymbol
BGN
resolver
genesymbol_syn
SLRR1A
resolver
hgnc
HGNC:1044
resolver
uniprot
B4DNL4
resolver
uniprot
D3DWU3
resolver
uniprot
P13247
resolver
uniprot_entry
B4DNL4_HUMAN
resolver
uniprot_entry
PGS1_HUMAN
resolver
uniprot_sec
D3DWU3
resolver
uniprot_sec
P13247
resolver
amino_acid_sequence
MWPLWRLVSLLALSQALPFEQRGFWDFTLDDGPFMMNDEEASGADTSGVLDPDSVTPTYSAMCPFGCHCHLRVVQCSDLGLKSVPKEISPDTTLLDLQNNDISELRKDDFKGLQHLYALVLVNNKISKIHEKAFSPLRKLQKLYISKNHLVEIPPNLPSSLVELRIHDNRIRKVPKGVFSGLRNMNCIEMGGNPLENSGFEPGAFDGLKLNYLRISEAKLTGIPKDLPETLNELHLDHNKIQAIELEDLLRYSKLYRLGLGHNQIRMIENGSLSFLPTLRELHLDNNKLARVPSGLPDLKLLQVVYLHSNNITKVGVNDFCPMGFGVKRAYYNGISLFNNPVPYWEVQPATFRCVTDRLAIQFGNYKK
uniprot
proteins
disease_involvement
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. {ECO:0000269|PubMed:27632686}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spondyloepimetaphyseal dysplasia, X-linked (SEMDX) [MIM:300106]: An 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. {ECO:0000269|PubMed:27236923}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May be involved in collagen fiber assembly. {ECO:0000250}.
uniprot
proteins
mass_dalton
41654
uniprot
proteins
post_translational_modification
PTM: The two attached glycosaminoglycan chains can be either chondroitin sulfate or dermatan sulfate. {ECO:0000250}.
uniprot
proteins
protein_family
SLRP class I subfamily
uniprot
proteins
protein_family
Small leucine-rich proteoglycan (SLRP) family
uniprot
proteins
pubmed
10854409
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
1860845
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2590169
uniprot
proteins
pubmed
2647739
uniprot
proteins
pubmed
27236923
uniprot
proteins
pubmed
27632686
uniprot
proteins
pubmed
32337544
uniprot
proteins
pubmed
3597437
uniprot
proteins
pubmed
7881444
uniprot
proteins
sequence_length
368
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
uniprot
proteins