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Q03692 Proteins with novel repeats
Uniprot ID:Q03692
Gene name: COL10A1
Protein Family:
Protein name: Collagen alpha-1
Length : 680
Sequnce
>Q03692 681 MLPQIPFLLLVSLNLVHGVFYAERYQMPTGIKGPLPNTKTQFFIPYTIKSKGIAVRGEQGTPGPPGPAGPRGHPGPSGPPGKPGYGSPGLQGEPGLPGPPGPSAVGKPGVPGLPGKPGERGPYGPKGDVGPAGLPGPRGPPGPPGIPGPAGISVPGKPGQQGPTGAPGPRGFPGEKGAPGVPGMNGQKGEMGYGAPGRPGERGLPGPQGPTGPSGPPGVGKRGENGVPGQPGIKGDRGFPGEMGPIGPPGPQGPPGERGPEGIGKPGAAGAPGQPGIPGTKGLPGAPGIAGPPGPPGFGKPGLPGLKGERGPAGLPGGPGAKGEQGPAGLPGKPGLTGPPGNMGPQGPKGIPGSHGLPGPKGETGPAGPAGYPGAKGERGSPGSDGKPGYPGKPGLDGPKGNPGLPGPKGDPGVGGPPGLPGPVGPAGAKGMPGHNGEAGPRGAPGIPGTRGPIGPPGIPGFPGSKGDPGSPGPPGPAGIATKGLNGPTGPPGPPGPRGHSGEPGLPGPPGPPGPPGQAVMPEGFIKAGQRPSLSGTPLVSANQGVTGMPVSAFTVILSKAYPAIGTPIPFDKILYNRQQHYDPRTGIFTCQIPGIYYFSYHVHVKGTHVWVGLYKNGTPVMYTYDEYTKGYLDQASGSAIIDLTENDQVWLQLPNAESNGLYSSEYVHSSFSGFLVAPM
Repeated Sequence regions
Length: 15 residues : 3 times from 303 to 344 :0.7555555555555555 region Length:42 LPG---LKGERGPAG LPGGPGAKGEQGPAG LPGKPGLTGPPGNMG Length: 11 residues : 5 times from 440 to 497 :0.7 region Length:58 -GPRGAPGIPGTR- -GPIGPPGIPGF-- PGSKGDPGSPGP-P -GPAGI-ATKGLN- -GPTGPPGPPGP--
Domains
DOMAIN 547 680 C1q
Function
Type X collagen is a product of hypertrophic chondrocytes and has been localized to presumptive mineralization zones of hyaline cartilage
Disease
"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 Note=The disease is caused by mutations affecting the gene represented in this entry"