KEGG   Homo sapiens (human): 1293Help
Entry
1293              CDS       T01001                                 

Gene name
COL6A3
Definition
collagen, type VI, alpha 3
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
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: 
LinkDB All DBs
Structure
PDB: 

Jmol
Position
2q37
AA seq 3177 aa AA seqDB search
MRKHRHLPLVAVFCLFLSGFPTTHAQQQQADVKNGAAADIIFLVDSSWTIGEEHFQLVRE
FLYDVVKSLAVGENDFHFALVQFNGNPHTEFLLNTYRTKQEVLSHISNMSYIGGTNQTGK
GLEYIMQSHLTKAAGSRAGDGVPQVIVVLTDGHSKDGLALPSAELKSADVNVFAIGVEDA
DEGALKEIASEPLNMHMFNLENFTSLHDIVGNLVSCVHSSVSPERAGDTETLKDITAQDS
ADIIFLIDGSNNTGSVNFAVILDFLVNLLEKLPIGTQQIRVGVVQFSDEPRTMFSLDTYS
TKAQVLGAVKALGFAGGELANIGLALDFVVENHFTRAGGSRVEEGVPQVLVLISAGPSSD
EIRYGVVALKQASVFSFGLGAQAASRAELQHIATDDNLVFTVPEFRSFGDLQEKLLPYIV
GVAQRHIVLKPPTIVTQVIEVNKRDIVFLVDGSSALGLANFNAIRDFIAKVIQRLEIGQD
LIQVAVAQYADTVRPEFYFNTHPTKREVITAVRKMKPLDGSALYTGSALDFVRNNLFTSS
AGYRAAEGIPKLLVLITGGKSLDEISQPAQELKRSSIMAFAIGNKGADQAELEEIAFDSS
LVFIPAEFRAAPLQGMLPGLLAPLRTLSGTPEVHSNKRDIIFLLDGSANVGKTNFPYVRD
FVMNLVNSLDIGNDNIRVGLVQFSDTPVTEFSLNTYQTKSDILGHLRQLQLQGGSGLNTG
SALSYVYANHFTEAGGSRIREHVPQLLLLLTAGQSEDSYLQAANALTRAGILTFCVGASQ
ANKAELEQIAFNPSLVYLMDDFSSLPALPQQLIQPLTTYVSGGVEEVPLAQPESKRDILF
LFDGSANLVGQFPVVRDFLYKIIDELNVKPEGTRIAVAQYSDDVKVESRFDEHQSKPEIL
NLVKRMKIKTGKALNLGYALDYAQRYIFVKSAGSRIEDGVLQFLVLLVAGRSSDRVDGPA
SNLKQSGVVPFIFQAKNADPAELEQIVLSPAFILAAESLPKIGDLHPQIVNLLKSVHNGA
PAPVSGEKDVVFLLDGSEGVRSGFPLLKEFVQRVVESLDVGQDRVRVAVVQYSDRTRPEF
YLNSYMNKQDVVNAVRQLTLLGGPTPNTGAALEFVLRNILVSSAGSRITEGVPQLLIVLT
ADRSGDDVRNPSVVVKRGGAVPIGIGIGNADITEMQTISFIPDFAVAIPTFRQLGTVQQV
ISERVTQLTREELSRLQPVLQPLPSPGVGGKRDVVFLIDGSQSAGPEFQYVRTLIERLVD
YLDVGFDTTRVAVIQFSDDPKVEFLLNAHSSKDEVQNAVQRLRPKGGRQINVGNALEYVS
RNIFKRPLGSRIEEGVPQFLVLISSGKSDDEVDDPAVELKQFGVAPFTIARNADQEELVK
ISLSPEYVFSVSTFRELPSLEQKLLTPITTLTSEQIQKLLASTRYPPPAVESDAADIVFL
IDSSEGVRPDGFAHIRDFVSRIVRRLNIGPSKVRVGVVQFSNDVFPEFYLKTYRSQAPVL
DAIRRLRLRGGSPLNTGKALEFVARNLFVKSAGSRIEDGVPQHLVLVLGGKSQDDVSRFA
QVIRSSGIVSLGVGDRNIDRTELQTITNDPRLVFTVREFRELPNIEERIMNSFGPSAATP
APPGVDTPPPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFVSEIVDTVYEDGDSIQVGL
VQYNSDPTDEFFLKDFSTKRQIIDAINKVVYKGGRHANTKVGLEHLRVNHFVPEAGSRLD
QRVPQIAFVITGGKSVEDAQDVSLALTQRGVKVFAVGVRNIDSEEVGKIASNSATAFRVG
NVQELSELSEQVLETLHDAMHETLCPGVTDAAKACNLDVILGFDGSRDQNVFVAQKGFES
KVDAILNRISQMHRVSCSGGRSPTVRVSVVANTPSGPVEAFDFDEYQPEMLEKFRNMRSQ
HPYVLTEDTLKVYLNKFRQSSPDSVKVVIHFTDGADGDLADLHRASENLRQEGVRALILV
GLERVVNLERLMHLEFGRGFMYDRPLRLNLLDLDYELAEQLDNIAEKACCGVPCKCSGQR
GDRGPIGSIGPKGIPGEDGYRGYPGDEGGPGERGPPGVNGTQGFQGCPGQRGVKGSRGFP
GEKGEVGEIGLDGLDGEDGDKGLPGSSGEKGNPGRRGDKGPRGEKGERGDVGIRGDPGNP
GQDSQERGPKGETGDLGPMGVPGRDGVPGGPGETGKNGGFGRRGPPGAKGNKGGPGQPGF
EGEQGTRGAQGPAGPAGPPGLIGEQGISGPRGSGGAAGAPGERGRTGPLGRKGEPGEPGP
KGGIGNRGPRGETGDDGRDGVGSEGRRGKKGERGFPGYPGPKGNPGEPGLNGTTGPKGIR
GRRGNSGPPGIVGQKGDPGYPGPAGPKGNRGDSIDQCALIQSIKDKCPCCYGPLECPVFP
TELAFALDTSEGVNQDTFGRMRDVVLSIVNDLTIAESNCPRGARVAVVTYNNEVTTEIRF
ADSKRKSVLLDKIKNLQVALTSKQQSLETAMSFVARNTFKRVRNGFLMRKVAVFFSNTPT
RASPQLREAVLKLSDAGITPLFLTRQEDRQLINALQINNTAVGHALVLPAGRDLTDFLEN
VLTCHVCLDICNIDPSCGFGSWRPSFRDRRAAGSDVDIDMAFILDSAETTTLFQFNEMKK
YIAYLVRQLDMSPDPKASQHFARVAVVQHAPSESVDNASMPPVKVEFSLTDYGSKEKLVD
FLSRGMTQLQGTRALGSAIEYTIENVFESAPNPRDLKIVVLMLTGEVPEQQLEEAQRVIL
QAKCKGYFFVVLGIGRKVNIKEVYTFASEPNDVFFKLVDKSTELNEEPLMRFGRLLPSFV
SSENAFYLSPDIRKQCDWFQGDQPTKNLVKFGHKQVNVPNNVTSSPTSNPVTTTKPVTTT
KPVTTTTKPVTTTTKPVTIINQPSVKPAAAKPAPAKPVAAKPVATKMATVRPPVAVKPAT
AAKPVAAKPAAVRPPAAAAAKPVATKPEVPRPQAAKPAATKPATTKPMVKMSREVQVFEI
TENSAKLHWERAEPPGPYFYDLTVTSAHDQSLVLKQNLTVTDRVIGGLLAGQTYHVAVVC
YLRSQVRATYHGSFSTKKSQPPPPQPARSASSSTINLMVSTEPLALTETDICKLPKDEGT
CRDFILKWYYDPNTKSCARFWYGGCGGNENKFGSQKECEKVCAPVLAKPGVISVMGT
NT seq 9534 nt NT seq  +upstreamnt  +downstreamnt
atgaggaaacatcggcacttgcccttagtggccgtcttttgcctctttctctcaggcttt
cctacaactcatgcccagcagcagcaagcagatgtcaaaaatggtgcggctgctgatata
atatttctagtggattcctcttggaccattggagaggaacatttccaacttgttcgagag
tttctatatgatgttgtaaaatccttagctgtgggagaaaatgatttccattttgctctg
gtccagttcaacggaaacccacataccgagttcctgttaaatacgtatcgtactaaacaa
gaagtcctttctcatatttccaacatgtcttatattgggggaaccaatcagactggaaaa
ggattagaatacataatgcaaagccacctcaccaaggctgctggaagccgggccggtgac
ggagtccctcaggttatcgtagtgttaactgatggacactcgaaggatggccttgctctg
ccctcagcggaacttaagtctgctgatgttaacgtgtttgcaattggagttgaggatgca
gatgaaggagcgttaaaagaaatagcaagtgaaccgctcaatatgcatatgttcaaccta
gagaattttacctcacttcatgacatagtaggaaacttagtgtcctgtgtgcattcatcc
gtgagtccagaaagggctggggacacggaaacccttaaagacatcacagcacaagactct
gctgacattattttccttattgatggatcaaacaacaccggaagtgtcaatttcgcagtc
attctcgacttccttgtaaatctccttgagaaactcccaattggaactcagcagatccga
gtgggggtggtccagtttagcgatgagcccagaaccatgttctccttggacacctactcc
accaaggcccaggttctgggtgcagtgaaagccctcgggtttgctggtggggagttggcc
aatatcggcctcgcccttgatttcgtggtggagaaccacttcacccgggcagggggcagc
cgcgtggaggaaggggttccccaggtgctggtcctcataagtgccgggccttctagtgac
gagattcgctacggggtggtagcactgaagcaggctagcgtgttctcattcggccttgga
gcccaggccgcctccagggcagagcttcagcacatagctaccgatgacaacttggtgttt
actgtcccggaattccgtagctttggggacctccaggagaaattactgccgtacattgtt
ggcgtggcccaaaggcacattgtcttgaaaccgccaaccattgtcacacaagtcattgaa
gtcaacaagagagacatagtcttcctggtggatggctcatctgcactgggactggccaac
ttcaatgccatccgagacttcattgctaaagtcatccagaggctggaaatcggacaggat
cttatccaggtggcagtggcccagtatgcagacactgtgaggcctgaattttatttcaat
acccatccaacaaaaagggaagtcataaccgctgtgcggaaaatgaagcccctggacggc
tcggccctgtacacgggctctgctctagactttgttcgtaacaacctattcacgagttca
gccggctaccgggctgccgaggggattcctaagcttttggtgctgatcacaggtggtaag
tccctagatgaaatcagccagcctgcccaggagctgaagagaagcagcataatggccttt
gccattgggaacaagggtgccgatcaggctgagctggaagagatcgctttcgactcctcc
ctggtgttcatcccagctgagttccgagccgccccattgcaaggcatgctgcctggcttg
ctggcacctctcaggaccctctctggaacccctgaagttcactcaaacaaaagggatatc
atctttcttttggatggatcagccaacgttggaaaaaccaatttcccttatgtgcgcgac
tttgtaatgaacctagttaacagccttgatattggaaatgacaatattcgtgttggttta
gtgcaatttagtgacactcctgtaacggagttctctttaaacacataccagaccaagtca
gatatccttggtcatctgaggcagctgcagctccagggaggttcgggcctgaacacaggc
tcagccctaagctatgtctatgccaaccacttcacggaagctggcggcagcaggatccgt
gaacacgtgccgcagctcctgcttctgctcacagctgggcagtctgaggactcctatttg
caagctgccaacgccttgacacgcgcgggcatcctgactttttgtgtgggagctagccag
gcgaataaggcagagcttgagcagattgcttttaacccaagcctggtgtatctcatggat
gatttcagctccctgccagctttgcctcagcagctgattcagcccctaaccacatatgtt
agtggaggtgtggaggaagtaccactcgctcagccagagagcaagcgagacattctgttc
ctctttgacggctcagccaatcttgtgggccagttccctgttgtccgtgactttctctac
aagattatcgatgagctcaatgtgaagccagaggggacccgaattgcggtggctcagtac
agcgatgatgtcaaggtggagtcccgttttgatgagcaccagagtaagcctgagatcctg
aatcttgtgaagagaatgaagatcaagacgggcaaagccctcaacctgggctacgcgctg
gactatgcacagaggtacatttttgtgaagtctgctggcagccggatcgaggatggagtg
cttcagttcctggtgctgctggtcgcaggaaggtcatctgaccgtgtggatgggccagca
agtaacctgaagcagagtggggttgtgcctttcatcttccaagccaagaacgcagaccct
gctgagttagagcagatcgtgctgtctccagcgtttatcctggctgcagagtcgcttccc
aagattggagatcttcatccacagatagtgaatctcttaaaatcagtgcacaacggagca
ccagcaccagtttcaggtgaaaaggacgtggtgtttctgcttgatggctctgagggcgtc
aggagcggcttccctctgttgaaagagtttgtccagagagtggtggaaagcctggatgtg
ggccaggaccgggtccgcgtggccgtggtgcagtacagcgaccggaccaggcccgagttc
tacctgaattcatacatgaacaagcaggacgtcgtcaacgctgtccgccagctgaccctg
ctgggagggccgacccccaacaccggggccgccctggagtttgtcctgaggaacatcctg
gtcagctctgcgggaagcaggataacagaaggtgtgccccagctgctgatcgtcctcacg
gccgacaggtctggggatgatgtgcggaacccctccgtggtcgtgaagaggggtggggct
gtgcccattggcattggcatcgggaacgctgacatcacagagatgcagaccatctccttc
atcccggactttgccgtggccattcccacctttcgccagctggggaccgtccaacaggtc
atctctgagagggtgacccagctcacccgcgaggagctgagcaggctgcagccggtgttg
cagcctctaccgagcccaggtgttggtggcaagagggacgtggtctttctcatcgatggg
tcccaaagtgccgggcctgagttccagtacgttcgcaccctcatagagaggctggttgac
tacctggacgtgggctttgacaccacccgggtggctgtcatccagttcagcgatgacccc
aaggtggagttcctgctgaacgcccattccagcaaggatgaagtgcagaacgcggtgcag
cggctgaggcccaagggagggcggcagatcaacgtgggcaatgccctggagtacgtgtcc
aggaacatcttcaagaggcccctggggagccgcattgaagagggcgtcccgcagttcctg
gtcctcatctcgtctggaaagtctgacgatgaggtggacgacccggcggtggagctcaag
cagtttggcgtggcccctttcacgatcgccaggaacgcagaccaggaggagctggtgaag
atctcgctgagccccgaatatgtgttctcggtgagcaccttccgggagctgcccagcctg
gagcagaaactgctgacgcccatcacgaccctgacctcagagcagatccagaagctctta
gccagcactcgctatccacctccagcagttgagagtgatgctgcagacattgtctttctg
atcgacagctctgagggagttaggccagatggctttgcacatattcgagattttgttagc
aggattgttcgaagactcaacatcggccccagtaaagtgagagttggggtcgtgcagttc
agcaatgatgtcttcccagaattctatctgaaaacctacagatcccaggccccggtgctg
gacgccatacggcgcctgaggctcagaggggggtccccactgaacactggcaaggctctc
gaatttgtggcaagaaacctctttgttaagtctgcggggagtcgcatagaagacggggtg
ccccaacacctggtcctggtcctgggtggaaaatcccaggacgatgtgtccaggttcgcc
caggtgatccgttcctcgggcattgtgagtttaggggtaggagaccggaacatcgacaga
acagagctgcagaccatcaccaatgaccccagactggtcttcacagtgcgagagttcaga
gagcttcccaacatagaagaaagaatcatgaactcgtttggaccctccgcagccactcct
gcacctccaggggtggacacccctcctccttcacggccagagaagaagaaagcagacatt
gtgttcctgttggatggttccatcaacttcaggagggacagtttccaggaagtgcttcgt
tttgtgtctgaaatagtggacacagtttatgaagatggcgactccatccaagtggggctt
gtccagtacaactctgaccccactgacgaattcttcctgaaggacttctctaccaagagg
cagattattgacgccatcaacaaagtggtctacaaagggggaagacacgccaacactaag
gtgggccttgagcacctgcgggtaaaccactttgtgcctgaggcaggcagccgcctggac
cagcgggtccctcagattgcctttgtgatcacgggaggaaagtcggtggaagatgcacag
gatgtgagcctggccctcacccagaggggggtcaaagtgtttgctgttggagtgaggaat
atcgactcggaggaggttggaaagatagcgtccaacagcgccacagcgttccgcgtgggc
aacgtccaggagctgtccgaactgagcgagcaagttttggaaactttgcatgatgcgatg
catgaaaccctttgccctggtgtaactgatgctgccaaagcttgtaatctggatgtgatt
ctggggtttgatggttctagagaccagaatgtttttgtggcccagaagggcttcgagtcc
aaggtggacgccatcttgaacagaatcagccagatgcacagggtcagctgcagcggtggc
cgctcgcccaccgtgcgtgtgtcagtggtggccaacacgccctcgggcccggtggaggcc
tttgactttgacgagtaccagccagagatgctcgagaagttccggaacatgcgcagccag
cacccctacgtcctcacggaggacaccctgaaggtctacctgaacaagttcagacagtcc
tcgccggacagcgtgaaggtggtcattcattttactgatggagcagacggagatctggct
gatttacacagagcatctgagaacctccgccaagaaggagtccgtgccttgatcctggtg
ggccttgaacgagtggtcaacttggagcggctaatgcatctggagtttgggcgagggttt
atgtatgacaggcccctgaggcttaacttgctggacttggattatgaactagcggagcag
cttgacaacattgccgagaaagcttgctgtggggttccctgcaagtgctctgggcagagg
ggagaccgcgggcccatcggcagcatcgggccaaagggtattcctggagaagacggctac
cgaggctatcctggtgatgagggtggacccggtgagcgtggtccgcctggtgtgaacggc
actcaaggtttccagggctgcccgggccagagaggagtaaagggctctcggggattccca
ggagagaagggcgaagtaggagaaattggactggatggtctggatggtgaagatggagac
aaaggattgcctggttcttctggagagaaagggaatcctggaagaaggggtgataaagga
cctcgaggagagaaaggagaaagaggagatgttgggattcgaggggacccgggtaaccca
ggacaagacagccaggagagaggacccaaaggagaaaccggtgacctcggccccatgggt
gtcccagggagagatggagtacctggaggacctggagaaactgggaagaatggtggcttt
ggccgaaggggaccccccggagctaagggcaacaagggcggtcctggccagccgggcttt
gagggagagcaggggaccagaggtgcacagggcccagctggtcctgctggtcctccaggg
ctgataggagaacaaggcatttctggacctcggggaagcggaggtgccgctggtgctcct
ggagaacgaggcagaaccggtccactgggaagaaagggtgagcccggagagccaggacca
aaaggaggaatcgggaaccggggccctcgtggggagacgggagatgacgggagagacgga
gttggcagtgaaggacgcagaggcaaaaaaggagaaagaggattccctggatacccagga
ccaaagggtaacccaggtgaacctgggctaaatggaacaacaggacccaaaggcatcaga
ggccgaaggggaaattcgggacctccagggatagttggacagaagggagaccctggctac
ccaggaccagctggtcccaagggcaacaggggcgactccatcgatcaatgtgccctcatc
caaagcatcaaagataaatgcccttgctgttacgggcccctggagtgccccgtcttccca
acagaactagcctttgctttagacacctctgagggagtcaaccaagacactttcggccgg
atgcgagatgtggtcttgagtattgtgaatgacctgaccattgctgagagcaactgccca
cggggggcccgggtggctgtggtcacctacaacaacgaggtgaccacggagatccggttt
gctgactccaagaggaagtcggtcctcctggacaagattaagaaccttcaggtggctctg
acatccaaacagcagagtctggagactgccatgtcgtttgtggccaggaacacatttaag
cgtgtgaggaacggattcctaatgaggaaagtggctgttttcttcagcaacacacccaca
agagcatccccacagctcagagaggctgtgctcaagctctcagatgcggggatcaccccc
ttgttccttacaaggcaggaagaccggcagctcatcaacgctttgcagatcaataacaca
gcagtggggcatgcgcttgtcctgcctgcagggagagacctcacagacttcctggagaat
gtcctcacgtgtcatgtttgcttggacatctgcaacatcgacccatcctgtggatttggc
agttggaggccttccttcagggacaggagagcggcagggagcgatgtggacatcgacatg
gctttcatcttagacagcgctgagaccaccaccctgttccagttcaatgagatgaagaag
tacatagcgtacctggtcagacaactggacatgagcccagatcccaaggcctcccagcac
ttcgccagagtggcagttgtgcagcacgcgccctctgagtccgtggacaatgccagcatg
ccacctgtgaaggtggaattctccctgactgactatggctccaaggagaagctggtggac
ttcctcagcaggggaatgacacagttgcagggaaccagggccttaggcagtgccattgaa
tacaccatagagaatgtctttgaaagtgccccaaacccacgggacctgaaaattgtggtc
ctgatgctgacgggcgaggtgccggagcagcagctggaggaggcccagagagtcatcctg
caggccaaatgcaagggctacttcttcgtggtcctgggcattggcaggaaggtgaacatc
aaggaggtatacaccttcgccagtgagccaaacgacgtcttcttcaaattagtggacaag
tccaccgagctcaacgaggagcctttgatgcgcttcgggaggctgttgccatccttcgtc
agcagtgaaaatgctttttacttgtccccagatatcaggaaacagtgtgattggttccaa
ggggaccaacccacaaagaaccttgtgaagtttggtcacaaacaagtaaatgttccgaat
aacgttacttcaagtcctacatccaacccagtgacgacaacgaagccggtgactacgacg
aagccggtgaccaccacaacaaagcctgtaaccaccacaacaaagcctgtgactattata
aatcagccatctgtgaagccagccgctgcaaagccggcccctgcgaaacctgtggctgcc
aagcctgtggccacaaagatggccactgttagacccccagtggcggtgaagccagcaacg
gcagcgaagcctgtagcagcaaagccagcagctgtaagaccccccgctgctgctgctgca
aaaccagtggcgaccaagcctgaggtccctaggccacaggcagccaaaccagctgccacc
aagccagccaccactaagcccatggttaagatgtcccgtgaagtccaggtgtttgagata
acagagaacagcgccaaactccactgggagagggctgagccccccggtccttatttttat
gacctcaccgtcacctcagcccatgatcagtccctggttctgaagcagaacctcacggtc
acggaccgcgtcattggaggcctgctcgctgggcagacataccatgtggctgtggtctgc
tacctgaggtctcaggtcagagccacctaccacggaagtttcagtacaaagaaatctcag
cccccacctccacagccagcaaggtcagcttctagttcaaccatcaatctaatggtgagc
acagaaccattggctctcactgaaacagatatatgcaagttgccgaaagacgaaggaact
tgcagggatttcatattaaaatggtactatgatccaaacaccaaaagctgtgcaagattc
tggtatggaggttgtggtggaaacgaaaacaaatttggatcacagaaagaatgtgaaaag
gtttgcgctcctgtgctcgccaaacccggagtcatcagtgtgatgggaacctaa

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