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

Gene name
COL6A1, BTHLM1, OPLL, UCHMD1
Definition
(RefSeq) collagen type VI alpha 1 chain
  KO
K06238  collagen, type VI, alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04974  Protein digestion and absorption
hsa05165  Human papillomavirus infection
Disease
H00431  Ossification of the posterior longitudinal ligament of spine
H00590  Congenital muscular dystrophies (CMD/MDC)
H01340  Bethlem myopathy
H01341  Collagen VI myopathy
H01778  Ullrich disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    1291 (COL6A1)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1291 (COL6A1)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    1291 (COL6A1)
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1291 (COL6A1)
 09160 Human Diseases
  09172 Infectious diseases: Viral
   05165 Human papillomavirus infection
    1291 (COL6A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    1291 (COL6A1)
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1291 (COL6A1)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   1291 (COL6A1)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate/Haparin
  Extracellular matrix molecules
   1291 (COL6A1)
 Hyaluronan
  Extracellular matrix or blood plasma proteins
   1291 (COL6A1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: VWA Collagen VWA_2 VWA_3 YcaO
Motif
Other DBs
NCBI-GeneID: 1291
NCBI-ProteinID: NP_001839
OMIM: 120220
HGNC: 2211
Ensembl: ENSG00000142156
Vega: OTTHUMG00000090440
Pharos: P12109(Tbio)
UniProt: P12109
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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