| Gene ID | 1300 |
| Symbol | COL10A1 |
| Synonymous | - |
| Full name | collagen, type X, alpha 1 |
| Gene description | Schmid metaphyseal chondrodysplasia|collagen X, alpha-1 polypeptide|collagen alpha-1(X) chain |
| Cytoband | 6q21-q22 |
| Gene type | protein-coding |
| Synonymous | MIM:120110; HGNC:HGNC:2185; Ensembl:ENSG00000123500; HPRD:00357 |
Pathways and Diseases | Detail |
|---|---|
Pathway | Integrin signalling pathway;PANTHER;P00034 |
Disease | Metaphyseal chondrodysplasia, Schmid type;OMIM |
Disease | Spondylometaphyseal dysplasia, Japanese type;OMIM |
Sequence Information | |
|---|---|
Nucleotide Sequence | >1300 : length: 4568 TAATAATGTCTGATTCAAAAGAGTACCAATATAATAATTTAATCAGATAAAATTATTCTCTGAAGTCATAACAGAGATGTCCTTGTTTTGTTCATAAGCCAGACTGAAATGAACAAACTA AAAAAGACAAGCCCTGTACAAACACATACCCAATGGTAGATTATGAGTTGCTCTTACTACAAAAGATCACTGTCATGGAGAAAATATTTTTGCCCCCTTGTAACCTCCAATTATTAAAGG AATAGGAGACATAATTATACAAATAGAAACATCTTTTTATTGAAATAAGTCAAGGTATTAAATCAAATGAAGAGTTATGTTAAACATACTACAATGGATTATAATTGTCTATTAAATTAT ATCCCCCAAAGAAACTATAAACTTCTAAAGGCAAGAAATATATCTTTCTGCTTGGCATGGAGCAAGTATTCAACATATGAATACCTAAATTAGTGCAGGAGCAGACACAGGAACATTTAT GTTTCCTTACATTCAAGGCAAGAGTATGATTAGTACCATATAGCCAAACTGAAGTGATAAAAATAATATTATTCATGTATGATTAAGGCAGCCTATGAAAAAAGTCATGTTTAATTATGA TACTAATTAACACTGATTGAACAAAATGGAATTTAGACCTAAGATGGAAAGGAGTGGTATTGTTTGTTCTTAACTCACAAAGAAGCCTGTGTTTTCACTTAACCTCCAAAGGAATTCTAT TTCACTGCCACTTTATGTAACTTATTTTCCTGGTTTTTCCACCACTCTTATATCCTTTGATGCTGATATTTTCTAGGTCCAGATGAGATTTAAAGGAAATTCTTTTAATAAGCTGATTCT AAGGAATAAAAGTTTAGCTCTCCTATGTTAAAAAAACTGGTTAATGTAGAGTGACAGAAATAATACCAAAGTGTTGCAACAGTCTGATATGCACATCAAATGGCCTGAATACACCAAACA GGATATAGGGACCTCTCGTGGTAAAAAAGTATAGTACAACCTGAATATTAAAAACAGTTTTTTTCAGTTTAACAGACAATTGTGCCACATCACTATTTCTATCATCACTGAATAAGCTTT TTCTTGTTAACTGTATCACTACTGTTTGCATGATTTTTGGCCAGAATTTTCAAAGCTGCTGTCCGAGGGGACTAGAGATGCCAGGATGCTAACACTTCCATGGTCAGCCTCCAAATAAGG CAAGTACCAGAGGATTCCTAACTACAGAAGTAAGTGTGTGTGGGAAAAAGCTACCAGGCAAGACTTACCAGGTGACCATAAAGACCAGAGGTTGGCAAACCACAGCCCACAAGCTAAGAA AGGTGCTTACATCTTAAAATGGTAATAATCCATCTGAGAATATGCTGCCACAAATACCCTTTTTGCTGCTAGTATCCTTGAACTTGGTTCATGGAGTGTTTTACGCTGAACGATACCAAA TGCCCACAGGCATAAAAGGCCCACTACCCAACACCAAGACACAGTTCTTCATTCCCTACACCATAAAGAGTAAAGGTATAGCAGTAAGAGGAGAGCAAGGTACTCCTGGTCCACCAGGCC CTGCTGGACCTCGAGGGCACCCAGGTCCTTCTGGACCACCAGGAAAACCAGGCTACGGAAGTCCTGGACTCCAAGGAGAGCCAGGGTTGCCAGGACCACCGGGACCATCAGCTGTAGGGA AACCAGGTGTGCCAGGACTCCCAGGAAAACCAGGAGAGAGAGGACCATATGGACCAAAAGGAGATGTTGGACCAGCTGGCCTACCAGGACCCCGGGGCCCACCAGGACCACCTGGAATCC CTGGACCGGCTGGAATTTCTGTGCCAGGAAAACCTGGACAACAGGGACCCACAGGAGCCCCAGGACCCAGGGGCTTTCCTGGAGAAAAGGGTGCACCAGGAGTCCCTGGTATGAATGGAC AGAAAGGGGAAATGGGATATGGTGCTCCTGGTCGTCCAGGTGAGAGGGGTCTTCCAGGCCCTCAGGGTCCCACAGGACCATCTGGCCCTCCTGGAGTGGGAAAAAGAGGTGAAAATGGGG TTCCAGGACAGCCAGGCATCAAAGGTGATAGAGGTTTTCCGGGAGAAATGGGACCAATTGGCCCACCAGGTCCCCAAGGCCCTCCTGGGGAACGAGGGCCAGAAGGCATTGGAAAGCCAG GAGCTGCTGGAGCCCCAGGCCAGCCAGGGATTCCAGGAACAAAAGGTCTCCCTGGGGCTCCAGGAATAGCTGGGCCCCCAGGGCCTCCTGGCTTTGGGAAACCAGGCTTGCCAGGCCTGA AGGGAGAAAGAGGACCTGCTGGCCTTCCTGGGGGTCCAGGTGCCAAAGGGGAACAAGGGCCAGCAGGTCTTCCTGGGAAGCCAGGTCTGACTGGACCCCCTGGGAATATGGGACCCCAAG GACCAAAAGGCATCCCGGGTAGCCATGGTCTCCCAGGCCCTAAAGGTGAGACAGGGCCAGCTGGGCCTGCAGGATACCCTGGGGCTAAGGGTGAAAGGGGTTCCCCTGGGTCAGATGGAA AACCAGGGTACCCAGGAAAACCAGGTCTCGATGGTCCTAAGGGTAACCCAGGGTTACCAGGTCCAAAAGGTGATCCTGGAGTTGGAGGACCTCCTGGTCTCCCAGGCCCTGTGGGCCCAG CAGGAGCAAAGGGAATGCCCGGACACAATGGAGAGGCTGGCCCAAGAGGTGCCCCTGGAATACCAGGTACTAGAGGCCCTATTGGGCCACCAGGCATTCCAGGATTCCCTGGGTCTAAAG GGGATCCAGGAAGTCCCGGTCCTCCTGGCCCAGCTGGCATAGCAACTAAGGGCCTCAATGGACCCACCGGGCCACCAGGGCCTCCAGGTCCAAGAGGCCACTCTGGAGAGCCTGGTCTTC CAGGGCCCCCTGGGCCTCCAGGCCCACCAGGTCAAGCAGTCATGCCTGAGGGTTTTATAAAGGCAGGCCAAAGGCCCAGTCTTTCTGGGACCCCTCTTGTTAGTGCCAACCAGGGGGTAA CAGGAATGCCTGTGTCTGCTTTTACTGTTATTCTCTCCAAAGCTTACCCAGCAATAGGAACTCCCATACCATTTGATAAAATTTTGTATAACAGGCAACAGCATTATGACCCAAGGACTG GAATCTTTACTTGTCAGATACCAGGAATATACTATTTTTCATACCACGTGCATGTGAAAGGGACTCATGTTTGGGTAGGCCTGTATAAGAATGGCACCCCTGTAATGTACACCTATGATG AATACACCAAAGGCTACCTGGATCAGGCTTCAGGGAGTGCCATCATCGATCTCACAGAAAATGACCAGGTGTGGCTCCAGCTTCCCAATGCCGAGTCAAATGGCCTATACTCCTCTGAGT ATGTCCACTCCTCTTTCTCAGGATTCCTAGTGGCTCCAATGTGAGTACACACAGAGCTAATCTAAATCTTGTGCTAGAAAAAGCATTCTCTAACTCTACCCCACCCTACAAAATGCATAT GGAGGTAGGCTGAAAAGAATGTAATTTTTATTTTCTGAAATACAGATTTGAGCTATCAGACCAACAAACCTTCCCCCTGAAAAGTGAGCAGCAACGTAAAAACGTATGTGAAGCCTCTCT TGAATTTCTAGTTAGCAATCTTAAGGCTCTTTAAGGTTTTCTCCAATATTAAAAAATATCACCAAAGAAGTCCTGCTATGTTAAAAACAAACAACAAAAAACAAACAACAAAAAAAAAAT TAAAAAAAAAAACAGAAATAGAGCTCTAAGTTATGTGAAATTTGATTTGAGAAACTCGGCATTTCCTTTTTAAAAAAGCCTGTTTCTAACTATGAATATGAGAACTTCTAGGAAACATCC AGGAGGTATCATATAACTTTGTAGAACTTAAATACTTGAATATTCAAATTTAAAAGACACTGTATCCCCTAAAATATTTCTGATGGTGCACTACTCTGAGGCCTGTATGGCCCCTTTCAT CAATATCTATTCAAATATACAGGTGCATATATACTTGTTAAAGCTCTTATATAAAAAAGCCCCAAAATATTGAAGTTCATCTGAAATGCAAGGTGCTTTCATCAATGAACCTTTTCAAAC TTTTCTATGATTGCAGAGAAGCTTTTTATATACCCAGCATAACTTGGAAACAGGTATCTGACCTATTCTTATTTAGTTAACACAAGTGTGATTAATTTGATTTCTTTAATTCCTTATTGA ATCTTATGTGATATGATTTTCTGGATTTACAGAACATTAGCACATGTACCTTGTGCCTCCCATTCAAGTGAAGTTATAATTTACACTGAGGGTTTCAAAATTCGACTAGAAGTGGAGATA TATTATTTATTTATGCACTGTACTGTATTTTTATATTGCTGTTTAAAACTTTTAAGCTGTGCCTCACTTATTAAAGCACAAAATGTTTTACCTACTCCTTATTTACGACGCAATAAAATA ACATCAATAGATTTTTAGGCTGAATTAATTTGAAAGCAGCAATTTGCTGTTCTCAACCATTCTTTCAAGGCTTTTCATTGTTCAAAGTTAATAAAAAAGTAGGACAATAAAGTGATGGGT GGCTTTTA |
Protein Sequence | >1300 : length: 680 MLPQIPFLLLVSLNLVHGVFYAERYQMPTGIKGPLPNTKTQFFIPYTIKSKGIAVRGEQGTPGPPGPAGPRGHPGPSGPPGKPGYGSPGLQGEPGLPGPPGPSAVGKPGVPGLPGKPGER GPYGPKGDVGPAGLPGPRGPPGPPGIPGPAGISVPGKPGQQGPTGAPGPRGFPGEKGAPGVPGMNGQKGEMGYGAPGRPGERGLPGPQGPTGPSGPPGVGKRGENGVPGQPGIKGDRGFP GEMGPIGPPGPQGPPGERGPEGIGKPGAAGAPGQPGIPGTKGLPGAPGIAGPPGPPGFGKPGLPGLKGERGPAGLPGGPGAKGEQGPAGLPGKPGLTGPPGNMGPQGPKGIPGSHGLPGP KGETGPAGPAGYPGAKGERGSPGSDGKPGYPGKPGLDGPKGNPGLPGPKGDPGVGGPPGLPGPVGPAGAKGMPGHNGEAGPRGAPGIPGTRGPIGPPGIPGFPGSKGDPGSPGPPGPAGI ATKGLNGPTGPPGPPGPRGHSGEPGLPGPPGPPGPPGQAVMPEGFIKAGQRPSLSGTPLVSANQGVTGMPVSAFTVILSKAYPAIGTPIPFDKILYNRQQHYDPRTGIFTCQIPGIYYFS YHVHVKGTHVWVGLYKNGTPVMYTYDEYTKGYLDQASGSAIIDLTENDQVWLQLPNAESNGLYSSEYVHSSFSGFLVAPM |