COL10A1
entrez
1300
canonical
uniprot
Q03692
canonical
ensembl
ENSG00000123500
resolver
ensp
ENSP00000243222
resolver
ensp
ENSP00000327368
resolver
ensp
ENSP00000498802
resolver
enst
ENST00000243222
resolver
enst
ENST00000327673
resolver
enst
ENST00000651968
resolver
genesymbol
COL10A1
resolver
hgnc
HGNC:2185
resolver
uniprot
A0A650AXN9
resolver
uniprot
A1L4P2
resolver
uniprot_entry
A0A650AXN9_HUMAN
resolver
uniprot_entry
COAA1_HUMAN
resolver
uniprot_sec
A1L4P2
resolver
amino_acid_sequence
MLPQIPFLLLVSLNLVHGVFYAERYQMPTGIKGPLPNTKTQFFIPYTIKSKGIAVRGEQGTPGPPGPAGPRGHPGPSGPPGKPGYGSPGLQGEPGLPGPPGPSAVGKPGVPGLPGKPGERGPYGPKGDVGPAGLPGPRGPPGPPGIPGPAGISVPGKPGQQGPTGAPGPRGFPGEKGAPGVPGMNGQKGEMGYGAPGRPGERGLPGPQGPTGPSGPPGVGKRGENGVPGQPGIKGDRGFPGEMGPIGPPGPQGPPGERGPEGIGKPGAAGAPGQPGIPGTKGLPGAPGIAGPPGPPGFGKPGLPGLKGERGPAGLPGGPGAKGEQGPAGLPGKPGLTGPPGNMGPQGPKGIPGSHGLPGPKGETGPAGPAGYPGAKGERGSPGSDGKPGYPGKPGLDGPKGNPGLPGPKGDPGVGGPPGLPGPVGPAGAKGMPGHNGEAGPRGAPGIPGTRGPIGPPGIPGFPGSKGDPGSPGPPGPAGIATKGLNGPTGPPGPPGPRGHSGEPGLPGPPGPPGPPGQAVMPEGFIKAGQRPSLSGTPLVSANQGVTGMPVSAFTVILSKAYPAIGTPIPFDKILYNRQQHYDPRTGIFTCQIPGIYYFSYHVHVKGTHVWVGLYKNGTPVMYTYDEYTKGYLDQASGSAIIDLTENDQVWLQLPNAESNGLYSSEYVHSSFSGFLVAPM
uniprot
proteins
disease_involvement
DISEASE: Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]: Dominantly inherited disorder of the osseous skeleton. The cardinal features of the phenotype are mild short stature, coxa vara and a waddling gait. Radiography usually shows sclerosis of the ribs, flaring of the metaphyses, and a wide irregular growth plate, especially of the knees. A variant form of SMCD is spondylometaphyseal dysplasia Japanese type. It is characterized by spinal involvement comprising mild platyspondyly, vertebral body abnormalities, and end-plate irregularity. {ECO:0000269|PubMed:15880705, ECO:0000269|PubMed:7607655, ECO:0000269|PubMed:7876225, ECO:0000269|PubMed:8004099, ECO:0000269|PubMed:8304336, ECO:0000269|PubMed:8782043, ECO:0000269|PubMed:9067753, ECO:0000269|PubMed:9852679}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Type X collagen is a product of hypertrophic chondrocytes and has been localized to presumptive mineralization zones of hyaline cartilage.
uniprot
proteins
mass_dalton
66158
uniprot
proteins
post_translational_modification
PTM: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
uniprot
proteins
pubmed
11839302
uniprot
proteins
pubmed
1397333
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1587271
uniprot
proteins
pubmed
15880705
uniprot
proteins
pubmed
1743401
uniprot
proteins
pubmed
1764025
uniprot
proteins
pubmed
2037056
uniprot
proteins
pubmed
7607655
uniprot
proteins
pubmed
7876225
uniprot
proteins
pubmed
8004099
uniprot
proteins
pubmed
8304336
uniprot
proteins
pubmed
8782043
uniprot
proteins
pubmed
9067753
uniprot
proteins
pubmed
9101290
uniprot
proteins
pubmed
9837818
uniprot
proteins
pubmed
9852679
uniprot
proteins
sequence_length
680
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
uniprot
proteins