KEGG   Homo sapiens (human): 1301
Entry
1301              CDS       T01001                                 
Symbol
COL11A1, CO11A1, COLL6, DFNA37, STL2
Name
(RefSeq) collagen type XI alpha 1 chain
  KO
K19721  collagen type V/XI/XXIV/XXVII, alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04820  Cytoskeleton in muscle cells
hsa04974  Protein digestion and absorption
Network
nt06539  Cytoskeleton in muscle cells
  Element
N01814  Extracellular matrix - Basal lamina
Disease
H00604  Deafness, autosomal dominant
H00805  Vitreoretinal degeneration
H02072  Stickler syndrome
H02080  Fibrochondrogenesis
H02081  Marshall syndrome
H02539  Intervertebral disc disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    1301 (COL11A1)
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1301 (COL11A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1301 (COL11A1)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1301 (COL11A1)
SSDB
Motif
Pfam: Collagen COLFI Laminin_G_2 Laminin_G_3 Laminin_G_1
Other DBs
NCBI-GeneID: 1301
NCBI-ProteinID: NP_001845
OMIM: 120280
HGNC: 2186
Ensembl: ENSG00000060718
UniProt: P12107 Q59HB5
Position
1:complement(102876473..103108522)
AA seq 1806 aa
MEPWSSRWKTKRWLWDFTVTTLALTFLFQAREVRGAAPVDVLKALDFHNSPEGISKTTGF
CTNRKNSKGSDTAYRVSKQAQLSAPTKQLFPGGTFPEDFSILFTVKPKKGIQSFLLSIYN
EHGIQQIGVEVGRSPVFLFEDHTGKPAPEDYPLFRTVNIADGKWHRVAISVEKKTVTMIV
DCKKKTTKPLDRSERAIVDTNGITVFGTRILDEEVFEGDIQQFLITGDPKAAYDYCEHYS
PDCDSSAPKAAQAQEPQIDEYAPEDIIEYDYEYGEAEYKEAESVTEGPTVTEETIAQTEA
NIVDDFQEYNYGTMESYQTEAPRHVSGTNEPNPVEEIFTEEYLTGEDYDSQRKNSEDTLY
ENKEIDGRDSDLLVDGDLGEYDFYEYKEYEDKPTSPPNEEFGPGVPAETDITETSINGHG
AYGEKGQKGEPAVVEPGMLVEGPPGPAGPAGIMGPPGLQGPTGPPGDPGDRGPPGRPGLP
GADGLPGPPGTMLMLPFRYGGDGSKGPTISAQEAQAQAILQQARIALRGPPGPMGLTGRP
GPVGGPGSSGAKGESGDPGPQGPRGVQGPPGPTGKPGKRGRPGADGGRGMPGEPGAKGDR
GFDGLPGLPGDKGHRGERGPQGPPGPPGDDGMRGEDGEIGPRGLPGEAGPRGLLGPRGTP
GAPGQPGMAGVDGPPGPKGNMGPQGEPGPPGQQGNPGPQGLPGPQGPIGPPGEKGPQGKP
GLAGLPGADGPPGHPGKEGQSGEKGALGPPGPQGPIGYPGPRGVKGADGVRGLKGSKGEK
GEDGFPGFKGDMGLKGDRGEVGQIGPRGEDGPEGPKGRAGPTGDPGPSGQAGEKGKLGVP
GLPGYPGRQGPKGSTGFPGFPGANGEKGARGVAGKPGPRGQRGPTGPRGSRGARGPTGKP
GPKGTSGGDGPPGPPGERGPQGPQGPVGFPGPKGPPGPPGKDGLPGHPGQRGETGFQGKT
GPPGPGGVVGPQGPTGETGPIGERGHPGPPGPPGEQGLPGAAGKEGAKGDPGPQGISGKD
GPAGLRGFPGERGLPGAQGAPGLKGGEGPQGPPGPVGSPGERGSAGTAGPIGLPGRPGPQ
GPPGPAGEKGAPGEKGPQGPAGRDGVQGPVGLPGPAGPAGSPGEDGDKGEIGEPGQKGSK
GDKGENGPPGPPGLQGPVGAPGIAGGDGEPGPRGQQGMFGQKGDEGARGFPGPPGPIGLQ
GLPGPPGEKGENGDVGPMGPPGPPGPRGPQGPNGADGPQGPPGSVGSVGGVGEKGEPGEA
GNPGPPGEAGVGGPKGERGEKGEAGPPGAAGPPGAKGPPGDDGPKGNPGPVGFPGDPGPP
GEPGPAGQDGVGGDKGEDGDPGQPGPPGPSGEAGPPGPPGKRGPPGAAGAEGRQGEKGAK
GEAGAEGPPGKTGPVGPQGPAGKPGPEGLRGIPGPVGEQGLPGAAGQDGPPGPMGPPGLP
GLKGDPGSKGEKGHPGLIGLIGPPGEQGEKGDRGLPGTQGSPGAKGDGGIPGPAGPLGPP
GPPGLPGPQGPKGNKGSTGPAGQKGDSGLPGPPGSPGPPGEVIQPLPILSSKKTRRHTEG
MQADADDNILDYSDGMEEIFGSLNSLKQDIEHMKFPMGTQTNPARTCKDLQLSHPDFPDG
EYWIDPNQGCSGDSFKVYCNFTSGGETCIYPDKKSEGVRISSWPKEKPGSWFSEFKRGKL
LSYLDVEGNSINMVQMTFLKLLTASARQNFTYHCHQSAAWYDVSSGSYDKALRFLGSNDE
EMSYDNNPFIKTLYDGCASRKGYEKTVIEINTPKIDQVPIVDVMINDFGDQNQKFGFEVG
PVCFLG
NT seq 5421 nt   +upstreamnt  +downstreamnt
atggagccgtggtcctctaggtggaaaacgaaacggtggctctgggatttcaccgtaaca
accctcgcattgaccttcctcttccaagctagagaggtcagaggagctgctccagttgat
gtactaaaagcactagattttcacaattctccagagggaatatcaaaaacaacgggattt
tgcacaaacagaaagaattctaaaggctcagatactgcttacagagtttcaaagcaagca
caactcagtgccccaacaaaacagttatttccaggtggaactttcccagaagacttttca
atactatttacagtaaaaccaaaaaaaggaattcagtctttccttttatctatatataat
gagcatggtattcagcaaattggtgttgaggttgggagatcacctgtttttctgtttgaa
gaccacactggaaaacctgccccagaagactatcccctcttcagaactgttaacatcgct
gacgggaagtggcatcgggtagcaatcagcgtggagaagaaaactgtgacaatgattgtt
gattgtaagaagaaaaccacgaaaccacttgatagaagtgagagagcaattgttgatacc
aatggaatcacggtttttggaacaaggattttggatgaagaagtttttgagggggacatt
cagcagtttttgatcacaggtgatcccaaggcagcatatgactactgtgagcattatagt
ccagactgtgactcttcagcacccaaggctgctcaagctcaggaacctcagatagatgag
tatgcaccagaggatataatcgaatatgactatgagtatggggaagcagagtataaagag
gctgaaagtgtaacagagggacccactgtaactgaggagacaatagcacagacggaggca
aacatcgttgatgattttcaagaatacaactatggaacaatggaaagttaccagacagaa
gctcctaggcatgtttctgggacaaatgagccaaatccagttgaagaaatatttactgaa
gaatatctaacgggagaggattatgattcccagaggaaaaattctgaggatacactatat
gaaaacaaagaaatagacggcagggattctgatcttctggtagatggagatttaggcgaa
tatgatttttatgaatataaagaatatgaagataaaccaacaagcccccctaatgaagaa
tttggtccaggtgtaccagcagaaactgatattacagaaacaagcataaatggccatggt
gcatatggagagaaaggacagaaaggagaaccagcagtggttgagcctggtatgcttgtc
gaaggaccaccaggaccagcaggacctgcaggtattatgggtcctccaggtctacaaggc
cccactggaccccctggtgaccctggcgataggggccccccaggacgtcctggcttacca
ggggctgatggtctacctggtcctcctggtactatgttgatgttaccgttccgttatggt
ggtgatggttccaaaggaccaaccatctctgctcaggaagctcaggctcaagctattctt
cagcaggctcggattgctctgagaggcccacctggcccaatgggtctaactggaagacca
ggtcctgtgggggggcctggttcatctggggccaaaggtgagagtggtgatccaggtcct
cagggccctcgaggcgtccagggtccccctggtccaacgggaaaacctggaaaaaggggt
cgtccaggtgcagatggaggaagaggaatgccaggagaacctggggcaaagggagatcga
gggtttgatggacttccgggtctgccaggtgacaaaggtcacaggggtgaacgaggtcct
caaggtcctccaggtcctcctggtgatgatggaatgaggggagaagatggagaaattgga
ccaagaggtcttccaggtgaagctggcccacgaggtttgctgggtccaaggggaactcca
ggagctccagggcagcctggtatggcaggtgtagatggccccccaggaccaaaagggaac
atgggtccccaaggggagcctgggcctccaggtcaacaagggaatccaggacctcagggt
cttcctggtccacaaggtccaattggtcctcctggtgaaaaaggaccacaaggaaaacca
ggacttgctggacttcctggtgctgatgggcctcctggtcatcctgggaaagaaggccag
tctggagaaaagggggctctgggtccccctggtccacaaggtcctattggatacccgggc
ccccggggagtaaagggagcagatggtgtcagaggtctcaagggatctaaaggtgaaaag
ggtgaagatggttttccaggattcaaaggtgacatgggtctaaaaggtgacagaggagaa
gttggtcaaattggcccaagaggggaagatggccctgaaggacccaaaggtcgagcaggc
ccaactggagacccaggtccttcaggtcaagcaggagaaaagggaaaacttggagttcca
ggattaccaggatatccaggaagacaaggtccaaagggttccactggattccctgggttt
ccaggtgccaatggagagaaaggtgcacggggagtagctggcaaaccaggccctcggggt
cagcgtggtccaacgggtcctcgaggttcaagaggtgcaagaggtcccactgggaaacct
gggccaaagggcacttcaggtggcgatggccctcctggccctccaggtgaaagaggtcct
caaggacctcagggtccagttggattccctggaccaaaaggccctcctggaccacctggg
aaggatgggctgccaggacaccctgggcaacgtggggagactggatttcaaggcaagacc
ggccctcctgggccagggggagtggttggaccacagggaccaaccggtgagactggtcca
ataggggaacgtgggcatcctggccctcctggccctcctggtgagcaaggtcttcctggt
gctgcaggaaaagaaggtgcaaagggtgatccaggtcctcaaggtatctcagggaaagat
ggaccagcaggattacgtggtttcccaggggaaagaggtcttcctggagctcagggtgca
cctggactgaaaggaggggaaggtccccagggcccaccaggtccagttggctcaccagga
gaacgtgggtcagcaggtacagctggcccaattggtttaccagggcgcccgggacctcag
ggtcctcctggtccagctggagagaaaggtgctcctggagaaaaaggtccccaagggcct
gcagggagagatggagttcaaggtcctgttggtctcccagggccagctggtcctgccggc
tcccctggggaagacggagacaagggtgaaattggtgagccgggacaaaaaggcagcaag
ggtgacaagggagaaaatggccctcccggtcccccaggtcttcaaggaccagttggtgcc
cctggaattgctggaggtgatggtgaaccaggtcctagaggacagcaggggatgtttggg
caaaaaggtgatgagggtgccagaggcttccctggacctcctggtccaataggtcttcag
ggtctgccaggcccacctggtgaaaaaggtgaaaatggggatgttggtcccatggggcca
cctggtcctccaggcccaagaggccctcaaggtcccaatggagctgatggaccacaagga
cccccagggtctgttggttcagttggtggtgttggagaaaagggtgaacctggagaagca
gggaacccagggcctcctggggaagcaggtgtaggcggtcccaaaggagaaagaggagag
aaaggggaagctggtccacctggagctgctggacctccaggtgccaaggggccaccaggt
gatgatggccctaagggtaacccgggtcctgttggttttcctggagatcctggtcctcct
ggggaacctggccctgcaggtcaagatggtgttggtggtgacaagggtgaagatggagat
cctggtcaaccgggtcctcctggcccatctggtgaggctggcccaccaggtcctcctgga
aaacgaggtcctcctggagctgcaggtgcagagggaagacaaggtgaaaaaggtgctaag
ggggaagcaggtgcagaaggtcctcctggaaaaaccggcccagtcggtcctcagggacct
gcaggaaagcctggtccagaaggtcttcggggcatccctggtcctgtgggagaacaaggt
ctccctggagctgcaggccaagatggaccacctggtcctatgggacctcctggcttacct
ggtctcaaaggtgaccctggctccaagggtgaaaagggacatcctggtttaattggcctg
attggtcctccaggagaacaaggggaaaaaggtgaccgagggctccctggaactcaagga
tctccaggagcaaaaggggatgggggaattcctggtcctgctggtcccttaggtccacct
ggtcctccaggtttaccaggtcctcaaggcccaaagggtaacaaaggctctactggaccc
gctggccagaaaggtgacagtggtcttccagggcctcctgggtctccaggtccacctggt
gaagtcattcagcctttaccaatcttgtcctccaaaaaaacgagaagacatactgaaggc
atgcaagcagatgcagatgataatattcttgattactcggatggaatggaagaaatattt
ggttccctcaattccctgaaacaagacattgagcatatgaaatttccaatgggtactcag
accaatccagcccgaacttgtaaagacctgcaactcagccatcctgacttcccagatggt
gaatattggattgatcctaaccaaggttgctcaggagattccttcaaagtttactgtaat
ttcacatctggtggtgagacttgcatttatccagacaaaaaatctgagggagtaagaatt
tcatcatggccaaaggagaaaccaggaagttggtttagtgaatttaagaggggaaaactg
ctttcatacttagatgttgaaggaaattccatcaatatggtgcaaatgacattcctgaaa
cttctgactgcctctgctcggcaaaatttcacctaccactgtcatcagtcagcagcctgg
tatgatgtgtcatcaggaagttatgacaaagcacttcgcttcctgggatcaaatgatgag
gagatgtcctatgacaataatccttttatcaaaacactgtatgatggttgtgcgtccaga
aaaggctatgaaaagactgtcattgaaatcaatacaccaaaaattgatcaagtacctatt
gttgatgtcatgatcaatgactttggtgatcagaatcagaagttcggatttgaagttggt
cctgtttgttttcttggctaa

  All links  
Disease (6)   
   OMIM (6)   
Gene (21)   
   RefGene (16)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (15)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (12)   
DNA sequence (31)   
   RefSeq(nuc) (15)   
   GenBank (8)   
   EMBL (8)   
Protein domain (5)   
   Pfam (5)   
All databases (78)   

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