Homo sapiens (human): 1291
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Entry
1291 CDS
T01001
Symbol
COL6A1, BTHLM1, BTHLM1A, OPLL, UCHMD1, UCHMD1A
Name
(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
hsa04820
Cytoskeleton in muscle cells
hsa04974
Protein digestion and absorption
hsa05165
Human papillomavirus infection
Disease
H00431
Ossification of the posterior longitudinal ligament of spine
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)
09142 Cell motility
04820 Cytoskeleton in muscle cells
1291 (COL6A1)
09150 Organismal Systems
09154 Digestive system
04974 Protein digestion and absorption
1291 (COL6A1)
09160 Human Diseases
09172 Infectious disease: 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 / Heparin
Extracellular matrix molecules
1291 (COL6A1)
Hyaluronan
Extracellular matrix or blood plasma proteins
1291 (COL6A1)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
VWA
Collagen
VWA_2
VWA_3
Motif
Other DBs
NCBI-GeneID:
1291
NCBI-ProteinID:
NP_001839
OMIM:
120220
HGNC:
2211
Ensembl:
ENSG00000142156
UniProt:
P12109
A0A384P5H7
LinkDB
All DBs
Position
21:45981770..46005048
Genome browser
AA seq
1028 aa
AA seq
DB 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
+upstream
nt +downstream
nt
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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integrated database retrieval system
