KEGG   Homo sapiens (human): 1291Help
Entry
1291              CDS       T01001                                 

Gene name
COL6A1, OPLL
Definition
collagen, type VI, alpha 1
Orthology
K06238  
collagen, type VI, alpha
Organism
hsa  Homo sapiens (human)
Pathway
PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Protein digestion and absorption
Disease
H00431  
Ossification of the posterior longitudinal ligament of spine (OPLL)
H00590  
Congenital muscular dystrophies (CMD/MDC)
H01340  
Bethlem myopathy
H01341  
Collagen VI myopathy
Class
Environmental Information Processing; Signal transduction; PI3K-Akt signaling pathway [PATH:hsa04151]
Environmental Information Processing; Signaling molecules and interaction; ECM-receptor interaction [PATH:hsa04512]
Cellular Processes; Cell communication; Focal adhesion [PATH:hsa04510]
Organismal Systems; Digestive system; Protein digestion and absorption [PATH:hsa04974]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
21q22.3
AA seq 1028 aa AA seqDB search
MRAARALLPLLLQACWTAAQDEPETPRAVAFQDCPVDLFFVLDTSESVALRLKPYGALVD
KVKSFTKRFIDNLRDRYYRCDRNLVWNAGALHYSDEVEIIQGLTRMPGGRDALKSSVDAV
KYFGKGTYTDCAIKKGLEQLLVGGSHLKENKYLIVVTDGHPLEGYKEPCGGLEDAVNEAK
HLGVKVFSVAITPDHLEPRLSIIATDHTYRRNFTAADWGQSRDAEEAISQTIDTIVDMIK
NNVEQVCCSFECQPARGPPGLRGDPGFEGERGKPGLPGEKGEAGDPGRPGDLGPVGYQGM
KGEKGSRGEKGSRGPKGYKGEKGKRGIDGVDGVKGEMGYPGLPGCKGSPGFDGIQGPPGP
KGDPGAFGLKGEKGEPGADGEAGRPGSSGPSGDEGQPGEPGPPGEKGEAGDEGNPGPDGA
PGERGGPGERGPRGTPGTRGPRGDPGEAGPQGDQGREGPVGVPGDPGEAGPIGPKGYRGD
EGPPGSEGARGAPGPAGPPGDPGLMGERGEDGPAGNGTEGFPGFPGYPGNRGAPGINGTK
GYPGLKGDEGEAGDPGDDNNDIAPRGVKGAKGYRGPEGPQGPPGHQGPPGPDECEILDII
MKMCSCCECKCGPIDLLFVLDSSESIGLQNFEIAKDFVVKVIDRLSRDELVKFEPGQSYA
GVVQYSHSQMQEHVSLRSPSIRNVQELKEAIKSLQWMAGGTFTGEALQYTRDQLLPPSPN
NRIALVITDGRSDTQRDTTPLNVLCSPGIQVVSVGIKDVFDFIPGSDQLNVISCQGLAPS
QGRPGLSLVKENYAELLEDAFLKNVTAQICIDKKCPDYTCPITFSSPADITILLDGSASV
GSHNFDTTKRFAKRLAERFLTAGRTDPAHDVRVAVVQYSGTGQQRPERASLQFLQNYTAL
ASAVDAMDFINDATDVNDALGYVTRFYREASSGAAKKRLLLFSDGNSQGATPAAIEKAVQ
EAQRAGIEIFVVVVGRQVNEPHIRVLVTGKTAEYDVAYGESHLFRVPSYQALLRGVFHQT
VSRKVALG
NT seq 3087 nt NT seq  +upstreamnt  +downstreamnt
atgagggcggcccgtgctctgctgcccctgctgctgcaggcctgctggacagccgcgcag
gatgagccggagaccccgagggccgtggccttccaggactgccccgtggacctgttcttt
gtgctggacacctctgagagcgtggccctgaggctgaagccctacggggccctcgtggac
aaagtcaagtccttcaccaagcgcttcatcgacaacctgagggacaggtactaccgctgt
gaccgaaacctggtgtggaacgcaggcgcgctgcactacagtgacgaggtggagatcatc
caaggcctcacgcgcatgcctggcggccgcgacgcactcaaaagcagcgtggacgcggtc
aagtactttgggaagggcacctacaccgactgcgctatcaagaaggggctggagcagctc
ctcgtggggggctcccacctgaaggagaataagtacctgattgtggtgaccgacgggcac
cccctggagggctacaaggaaccctgtggggggctggaggatgctgtgaacgaggccaag
cacctgggcgtcaaagtcttctcggtggccatcacacccgaccacctggagccgcgtctg
agcatcatcgccacggaccacacgtaccggcgcaacttcacggcggctgactggggccag
agccgcgacgcagaggaggccatcagccagaccatcgacaccatcgtggacatgatcaaa
aataacgtggagcaagtgtgctgctccttcgaatgccagcctgcaagaggacctccgggg
ctccggggcgaccccggctttgagggagaacgaggcaagccggggctcccaggagagaag
ggagaagccggagatcctggaagacccggggacctcggacctgttgggtaccagggaatg
aagggagaaaaagggagccgtggggagaagggctccaggggacccaagggctacaaggga
gagaagggcaagcgtggcatcgacggggtggacggcgtgaagggggagatggggtaccca
ggcctgccaggctgcaagggctcgcccgggtttgacggcattcaaggaccccctggcccc
aagggagaccccggtgcctttggactgaaaggagaaaagggcgagcctggagctgacggg
gaggcggggagaccagggagctcgggaccatctggagacgagggccagccgggagagcct
gggccccccggagagaaaggagaggcgggcgacgaggggaacccaggacctgacggtgcc
cccggggagcggggtggccctggagagagaggaccacgggggaccccaggcacgcgggga
ccaagaggagaccctggtgaagctggcccgcagggtgatcagggaagagaaggccccgtt
ggtgtccctggagacccgggcgaggctggccctatcggacctaaaggctaccgaggcgat
gagggtcccccagggtccgagggtgccagaggagccccaggacctgccggaccccctgga
gacccggggctgatgggtgaaaggggagaagacggccccgctggaaatggcaccgagggc
ttccccggcttccccgggtatccgggcaacaggggcgctcccgggataaacggcacgaag
ggctaccccggcctcaagggggacgagggagaagccggggaccccggagacgataacaac
gacattgcaccccgaggagtcaaaggagcaaaggggtaccggggtcccgagggcccccag
ggacccccaggacaccaaggaccgcctgggccggacgaatgcgagattttggacatcatc
atgaaaatgtgctcttgctgtgaatgcaagtgcggccccatcgacctcctgttcgtgctg
gacagctcagagagcattggcctgcagaacttcgagattgccaaggacttcgtcgtcaag
gtcatcgaccggctgagccgggacgagctggtcaagttcgagccagggcagtcgtacgcg
ggtgtggtgcagtacagccacagccagatgcaggagcacgtgagcctgcgcagccccagc
atccggaacgtgcaggagctcaaggaagccatcaagagcctgcagtggatggcgggcggc
accttcacgggggaggccctgcagtacacgcgggaccagctgctgccgcccagcccgaac
aaccgcatcgccctggtcatcactgacgggcgctcagacactcagagggacaccacaccg
ctcaacgtgctctgcagccccggcatccaggtggtctccgtgggcatcaaagacgtgttt
gacttcatcccaggctcagaccagctcaatgtcatttcttgccaaggcctggcaccatcc
cagggccggcccggcctctcgctggtcaaggagaactatgcagagctgctggaggatgcc
ttcctgaagaatgtcaccgcccagatctgcatagacaagaagtgtccagattacacctgc
cccatcacgttctcctccccggctgacatcaccatcctgctggacggctccgccagcgtg
ggcagccacaactttgacaccaccaagcgcttcgccaagcgcctggccgagcgcttcctc
acagcgggcaggacggaccccgcccacgacgtgcgggtggcggtggtgcagtacagcggc
acgggccagcagcgcccagagcgggcgtcgctgcagttcctgcagaactacacggccctg
gccagtgccgtcgatgccatggactttatcaacgacgccaccgacgtcaacgatgccctg
ggctatgtgacccgcttctaccgcgaggcctcgtccggcgctgccaagaagaggctgctg
ctcttctcagatggcaactcgcagggcgccacgcccgctgccatcgagaaggccgtgcag
gaagcccagcgggcaggcatcgagatcttcgtggtggtcgtgggccgccaggtgaatgag
ccccacatccgcgtcctggtcaccggcaagacggccgagtacgacgtggcctacggcgag
agccacctgttccgtgtccccagctaccaggccctgctccgcggtgtcttccaccagaca
gtctccaggaaggtggcgctgggctag

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