ASPN
entrez
54829
canonical
uniprot
Q9BXN1
canonical
ensembl
ENSG00000106819
resolver
ensembl
ENSG00000292224
resolver
ensp
ENSP00000364693
resolver
ensp
ENSP00000364694
resolver
ensp
ENSP00000518167
resolver
ensp
ENSP00000577527
resolver
enst
ENST00000375544
resolver
enst
ENST00000710274
resolver
enst
ENST00000907468
resolver
genesymbol
ASPN
resolver
genesymbol_syn
PLAP1
resolver
genesymbol_syn
SLRR1C
resolver
hgnc
HGNC:14872
resolver
uniprot
A0AAG2UW46
resolver
uniprot
Q5TBF3
resolver
uniprot
Q6P528
resolver
uniprot
Q96K79
resolver
uniprot
Q96LD0
resolver
uniprot
Q9NXP3
resolver
uniprot_entry
A0AAG2UW46_HUMAN
resolver
uniprot_entry
ASPN_HUMAN
resolver
uniprot_entry
Q6P528_HUMAN
resolver
uniprot_sec
Q5TBF3
resolver
uniprot_sec
Q96K79
resolver
uniprot_sec
Q96LD0
resolver
uniprot_sec
Q9NXP3
resolver
amino_acid_sequence
MKEYVLLLFLALCSAKPFFSPSHIALKNMMLKDMEDTDDDDDDDDDDDDDDEDNSLFPTREPRSHFFPFDLFPMCPFGCQCYSRVVHCSDLGLTSVPTNIPFDTRMLDLQNNKIKEIKENDFKGLTSLYGLILNNNKLTKIHPKAFLTTKKLRRLYLSHNQLSEIPLNLPKSLAELRIHENKVKKIQKDTFKGMNALHVLEMSANPLDNNGIEPGAFEGVTVFHIRIAEAKLTSVPKGLPPTLLELHLDYNKISTVELEDFKRYKELQRLGLGNNKITDIENGSLANIPRVREIHLENNKLKKIPSGLPELKYLQIIFLHSNSIARVGVNDFCPTVPKMKKSLYSAISLFNNPVKYWEMQPATFRCVLSRMSVQLGNFGM
uniprot
proteins
disease_involvement
DISEASE: Osteoarthritis 3 (OS3) [MIM:607850]: A degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. Susceptibility to osteoarthritis is conferred by a triplet repeat expansion polymorphism. ASPN allele having 14 aspartic acid repeats in the N-terminal region of the protein (D14), is overrepresented relative to the common allele having 13 aspartic acid repeats (D13). The frequency of the D14 allele increases with disease severity. The D14 allele is also overrepresented in individuals with hip osteoarthritis.; DISEASE: Intervertebral disc disease (IDD) [MIM:603932]: A common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain. {ECO:0000269|PubMed:18304494}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. Susceptibility to intervertebral disk disease, particularly lumbar disk degeneration, is conferred by a triplet repeat expansion polymorphism. ASPN allele having 14 aspartic acid repeats in the N-terminal region of the protein (D14), is associated with the disorder in some populations (PubMed:18304494). {ECO:0000269|PubMed:18304494}.
uniprot
proteins
function
FUNCTION: Negatively regulates periodontal ligament (PDL) differentiation and mineralization to ensure that the PDL is not ossified and to maintain homeostasis of the tooth-supporting system. Inhibits BMP2-induced cytodifferentiation of PDL cells by preventing its binding to BMPR1B/BMP type-1B receptor, resulting in inhibition of BMP-dependent activation of SMAD proteins (By similarity). Critical regulator of TGF-beta in articular cartilage and plays an essential role in cartilage homeostasis and osteoarthritis (OA) pathogenesis. Negatively regulates chondrogenesis in the articular cartilage by blocking the TGF-beta/receptor interaction on the cell surface and inhibiting the canonical TGF-beta/Smad signal. Binds calcium and plays a role in osteoblast-driven collagen biomineralization activity. {ECO:0000250, ECO:0000269|PubMed:17827158, ECO:0000269|PubMed:19589127}.
uniprot
proteins
mass_dalton
43417
uniprot
proteins
post_translational_modification
PTM: There is no serine/glycine dipeptide sequence expected for the attachment of O-linked glycosaminoglycans and this is probably not a proteoglycan. The O-linked polysaccharide on 54-Ser is probably the mucin type linked to GalNAc.; PTM: The N-linked glycan at Asn-282 is composed of variable structures of GlcNAc, mannose, fucose, HexNAc and hexose. {ECO:0000269|PubMed:11152692, ECO:0000269|PubMed:19159218}.
uniprot
proteins
protein_family
SLRP class I subfamily
uniprot
proteins
protein_family
Small leucine-rich proteoglycan (SLRP) family
uniprot
proteins
pubmed
11152692
uniprot
proteins
pubmed
11152695
uniprot
proteins
pubmed
11587855
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15640800
uniprot
proteins
pubmed
17827158
uniprot
proteins
pubmed
18304494
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19589127
uniprot
proteins
sequence_length
380
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:17827158}.
uniprot
proteins