KEGG   Homo sapiens (human): 1289
Entry
1289              CDS       T01001                                 
Symbol
COL5A1, EDSC, EDSCL1, FMDMF
Name
(RefSeq) collagen type V 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
H00802  Ehlers-Danlos syndrome
H02719  Multifocal fibromuscular dysplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    1289 (COL5A1)
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1289 (COL5A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1289 (COL5A1)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1289 (COL5A1)
SSDB
Motif
Pfam: Collagen COLFI Laminin_G_2 Laminin_G_1
Other DBs
NCBI-GeneID: 1289
NCBI-ProteinID: NP_000084
OMIM: 120215
HGNC: 2209
Ensembl: ENSG00000130635
UniProt: P20908 B2ZZ86 Q59EE7
Structure
Position
9:134641803..134844843
AA seq 1838 aa
MDVHTRWKARSALRPGAPLLPPLLLLLLWAPPPSRAAQPADLLKVLDFHNLPDGITKTTG
FCATRRSSKGPDVAYRVTKDAQLSAPTKQLYPASAFPEDFSILTTVKAKKGSQAFLVSIY
NEQGIQQIGLELGRSPVFLYEDHTGKPGPEDYPLFRGINLSDGKWHRIALSVHKKNVTLI
LDCKKKTTKFLDRSDHPMIDINGIIVFGTRILDEEVFEGDIQQLLFVSDHRAAYDYCEHY
SPDCDTAVPDTPQSQDPNPDEYYTEGDGEGETYYYEYPYYEDPEDLGKEPTPSKKPVEAA
KETTEVPEELTPTPTEAAPMPETSEGAGKEEDVGIGDYDYVPSEDYYTPSPYDDLTYGEG
EENPDQPTDPGAGAEIPTSTADTSNSSNPAPPPGEGADDLEGEFTEETIRNLDENYYDPY
YDPTSSPSEIGPGMPANQDTIYEGIGGPRGEKGQKGEPAIIEPGMLIEGPPGPEGPAGLP
GPPGTMGPTGQVGDPGERGPPGRPGLPGADGLPGPPGTMLMLPFRFGGGGDAGSKGPMVS
AQESQAQAILQQARLALRGPAGPMGLTGRPGPVGPPGSGGLKGEPGDVGPQGPRGVQGPP
GPAGKPGRRGRAGSDGARGMPGQTGPKGDRGFDGLAGLPGEKGHRGDPGPSGPPGPPGDD
GERGDDGEVGPRGLPGEPGPRGLLGPKGPPGPPGPPGVTGMDGQPGPKGNVGPQGEPGPP
GQQGNPGAQGLPGPQGAIGPPGEKGPLGKPGLPGMPGADGPPGHPGKEGPPGEKGGQGPP
GPQGPIGYPGPRGVKGADGIRGLKGTKGEKGEDGFPGFKGDMGIKGDRGEIGPPGPRGED
GPEGPKGRGGPNGDPGPLGPPGEKGKLGVPGLPGYPGRQGPKGSIGFPGFPGANGEKGGR
GTPGKPGPRGQRGPTGPRGERGPRGITGKPGPKGNSGGDGPAGPPGERGPNGPQGPTGFP
GPKGPPGPPGKDGLPGHPGQRGETGFQGKTGPPGPPGVVGPQGPTGETGPMGERGHPGPP
GPPGEQGLPGLAGKEGTKGDPGPAGLPGKDGPPGLRGFPGDRGLPGPVGALGLKGNEGPP
GPPGPAGSPGERGPAGAAGPIGIPGRPGPQGPPGPAGEKGAPGEKGPQGPAGRDGLQGPV
GLPGPAGPVGPPGEDGDKGEIGEPGQKGSKGDKGEQGPPGPTGPQGPIGQPGPSGADGEP
GPRGQQGLFGQKGDEGPRGFPGPPGPVGLQGLPGPPGEKGETGDVGQMGPPGPPGPRGPS
GAPGADGPQGPPGGIGNPGAVGEKGEPGEAGEPGLPGEGGPPGPKGERGEKGESGPSGAA
GPPGPKGPPGDDGPKGSPGPVGFPGDPGPPGEPGPAGQDGPPGDKGDDGEPGQTGSPGPT
GEPGPSGPPGKRGPPGPAGPEGRQGEKGAKGEAGLEGPPGKTGPIGPQGAPGKPGPDGLR
GIPGPVGEQGLPGSPGPDGPPGPMGPPGLPGLKGDSGPKGEKGHPGLIGLIGPPGEQGEK
GDRGLPGPQGSSGPKGEQGITGPSGPIGPPGPPGLPGPPGPKGAKGSSGPTGPKGEAGHP
GPPGPPGPPGEVIQPLPIQASRTRRNIDASQLLDDGNGENYVDYADGMEEIFGSLNSLKL
EIEQMKRPLGTQQNPARTCKDLQLCHPDFPDGEYWVDPNQGCSRDSFKVYCNFTAGGSTC
VFPDKKSEGARITSWPKENPGSWFSEFKRGKLLSYVDAEGNPVGVVQMTFLRLLSASAHQ
NVTYHCYQSVAWQDAATGSYDKALRFLGSNDEEMSYDNNPYIRALVDGCATKKGYQKTVL
EIDTPKVEQVPIVDIMFNDFGEASQKFGFEVGPACFMG
NT seq 5517 nt   +upstreamnt  +downstreamnt
atggacgtccatacccgctggaaagcgcgcagcgcgctccgcccgggcgccccgctgctg
cccccgctgctgctgctgctgctgtgggcgccgcctccgagccgcgcagctcagccagca
gatctcctgaaggttctagattttcacaacttgcctgatggaataacaaagacaacaggc
ttttgcgccacgcggcgatcttccaaaggcccggatgtcgcttacagagtcaccaaagac
gcgcagctcagcgcacccaccaagcagctgtaccctgcgtctgcatttcccgaggacttc
tccatcctaacaactgtgaaagccaagaaaggcagccaggccttcctggtctccatctac
aacgagcagggtatccagcagattgggctggagctgggccgctctcccgtcttcctctac
gaggaccacacggggaagcctggcccggaagactaccccctcttccggggcatcaacctg
tcagatggcaagtggcacagaattgctctcagcgtccacaagaaaaatgtcaccttgatc
ctcgactgtaaaaagaagaccaccaaattcctcgaccgcagcgaccaccccatgatcgac
atcaatggcatcatcgtgtttggcacccggatcctggatgaggaggtgtttgagggtgac
atccagcagctgctctttgtctcggaccaccgggcagcttatgattactgtgagcactac
agccctgactgtgacaccgcagtacctgacaccccacagtcgcaggaccccaatccagat
gaatattacacggaaggagacggcgagggtgagacctattactacgaatacccctactac
gaagaccccgaagacctagggaaggagcccacccccagcaagaagcccgtggaagctgcc
aaagaaaccacagaggtccccgaggagctgaccccgacccccacggaagctgctcccatg
cctgaaaccagtgaaggggctgggaaggaagaggacgtcggcatcggggactatgactac
gtgcccagtgaggactactacacgccctcaccgtatgatgacctcacctatggcgagggg
gaggagaaccccgaccagcccacagacccaggcgctggggccgaaattcccaccagcacc
gccgacacctccaactcctccaatccagctccgcctccaggggaaggtgcggatgacttg
gagggggagttcactgaggaaacgatccggaaccttgacgagaactactacgacccctac
tacgaccccaccagctccccgtcggagatcgggccgggaatgccggcgaaccaggatacc
atctatgaagggattggaggacctcggggcgagaaaggccaaaagggagaaccagcgatt
atcgagccgggcatgctcatcgagggcccgcctggcccagaaggccccgcgggtcttccc
ggacctccaggaaccatgggtcccactggccaagtcggggaccctggagaaaggggcccc
cctggacgcccaggccttcctggggccgatggcctgcccggtcctccaggaaccatgctc
atgctgcccttccggtttggaggtggcggcgatgcgggctccaaaggccccatggtctca
gcccaggagtcccaggcgcaagccattctccagcaggccaggttggcactgaggggacca
gctggcccgatgggtctcacagggagacctggccctgtgggtccccctgggagcggaggt
ttgaagggcgagccgggagacgtggggcctcagggtcctcgaggtgtgcaaggcccgcct
ggtccggccgggaagcccggaagacggggtcgggctgggagtgatggagccagaggaatg
cctggacaaactggccccaagggtgaccggggtttcgacggcctggctgggttgccaggc
gagaagggccacaggggtgaccctggtccttccggcccaccaggacctccgggagacgat
ggagaaaggggtgacgacggagaagttgggcccagggggctgcctggggagcccgggcca
cgtggtctgcttgggccgaaggggcccccaggtcctcccggacctcccggtgtcacgggt
atggacggccagccggggccaaaaggaaatgtgggtccccagggagagcctggcccccca
ggacagcagggtaatccaggcgcccagggtcttccaggcccccagggtgcaattggtcct
ccaggagaaaagggtcccttggggaaaccaggccttccaggaatgcccggtgctgacgga
cccccgggacaccctggcaaagaaggccctccaggagagaaaggaggtcagggtccacct
ggcccccagggtccgattggctacccaggtcctcgaggagtcaagggggccgatggcatc
cgtggtctgaagggcacaaagggcgagaagggtgaagacggctttcctgggtttaaagga
gacatgggcatcaagggtgatcggggggagatcggcccacccggtcccaggggagaagat
ggccctgaaggcccaaagggtcgcggaggtcccaatggtgaccccggtcctctgggaccc
cctggggagaagggaaaactcggagtcccagggttaccagggtatccaggaagacaagga
ccaaagggctctattggattccctggatttcctggcgccaatggagagaagggcggcagg
gggacccctggaaagccaggaccgcgggggcagcgaggcccaacgggtccgaggggtgaa
agaggcccccggggcatcactgggaagcctggccccaagggcaactccggaggtgacggc
ccagctggccctcctggtgaacggggacccaatggaccccaaggacccacaggatttcct
ggaccaaagggcccccctggccctccaggcaaggatggactcccaggacaccctggacag
agaggcgagactggtttccaaggcaagaccggccctccaggcccccccggcgtggtcggc
cctcagggtcccacgggagaaacgggcccaatgggtgagcgtggccaccctgggccccct
ggaccccccggtgaacaggggcttccgggccttgctggaaaagaagggacgaagggtgac
ccaggccctgcaggcctccctgggaaagatggccctccaggattacgtggtttccctggg
gaccgagggcttcctggtccagtgggagctcttggactgaaaggcaatgaagggccccct
ggcccaccaggccctgcgggatctccaggggagagaggtccagctggagccgctgggccc
atcggaattccagggagacctgggccccagggacccccagggccggcaggagagaaaggg
gctcctggcgagaaaggcccacaaggcccagctggccgagacggtctccaggggcctgtg
gggctcccgggtccagctggccctgtgggtccccctggagaagacggagataagggagag
atcggggagccggggcagaaaggaagcaagggggacaaaggagaacagggtcctcctggg
cctacaggtcctcaaggccccatcggacagccaggcccctctggagctgacggcgagccg
gggcctcggggccagcagggccttttcgggcagaaaggtgatgaaggtcccagaggcttt
cctggaccccctgggccagtggggctgcagggtttgccaggacctccaggcgagaagggt
gagacaggagacgtgggccagatgggccccccgggtccccctggcccccgaggaccctcc
ggagctccaggtgctgatggcccacaaggtcccccaggtggaataggaaaccctggtgca
gtgggagagaagggcgagcctggcgaagcaggtgagcctggccttccgggagaaggcggc
cccccgggacccaaaggagaaaggggagagaagggcgagtcaggcccttcaggtgctgcc
ggaccccctggacccaaaggccctcccggagatgatggtcccaaaggcagccctggccca
gtgggttttcctggagatcctggcccccccggagagcctggccccgcgggtcaagatggt
ccccctggtgacaaaggagatgatggtgaacccgggcagacgggatcccccggccctact
ggtgaaccaggtccatcggggcctccaggaaaaaggggtcccccaggccccgcaggcccc
gaaggcagacagggagagaaaggggccaagggagaagccggcttggaaggccctcctggg
aagactggccccatcggcccccagggggcccctgggaagcccggaccggatggccttcga
gggatccctggccctgtgggagaacaaggtctcccaggatccccaggcccggacggtccc
cccggccccatgggtcccccaggacttcccggcctcaaaggagattctggtcccaaaggt
gaaaagggtcatccaggcctgatcgggctcatcggtcctccgggtgaacagggtgagaag
ggcgaccgtggtctccctggcccccagggctcctccggtcctaagggagaacagggtatc
actggtccttctggcccgattgggcctcctgggccccctggcctgccgggtccgcctggt
ccaaaaggtgctaagggctcctcgggtccaactggcccgaagggtgaggcaggccaccca
ggacccccaggccccccgggccccccgggagaggtcatccagcccctgccaatccaggca
tccaggacgcggcggaacatcgacgccagccagctgctggacgacgggaatggcgagaac
tacgtggactacgcggacggcatggaagagatcttcggctctctcaactctctgaagctg
gagattgagcagatgaaacggcccctgggcacgcagcagaaccccgcccgcacctgcaag
gacctgcagctctgccaccccgacttcccagatggtgaatactgggtcgatcctaaccaa
ggatgctccagggattccttcaaggtttactgcaacttcacagccggggggtcgacatgc
gtcttccctgacaagaagtccgaaggggccagaatcacttcttggcccaaagaaaacccg
ggctcctggttcagtgaattcaagcgtgggaaactgctctcctatgtggacgccgagggc
aaccctgtgggtgtggtacagatgaccttcctgcggctgctgagcgcctctgcccaccag
aacgtcacctaccactgctaccagtcagtggcctggcaggacgcagccacgggcagctac
gacaaggccctccgcttcctgggctccaacgacgaggagatgtcctatgacaacaacccc
tacatccgcgccctggtggacggctgtgctaccaagaaaggctaccagaagacggttctg
gagatcgacacccccaaagtggagcaggtgcccatcgtggacatcatgttcaatgacttc
ggtgaagcgtcacagaaatttggatttgaagtggggccggcttgcttcatgggctag

  All links  
Disease (3)   
   OMIM (3)   
Gene (32)   
   RefGene (26)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (8)   
   UniProt (3)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (38)   
   RefSeq(nuc) (4)   
   GenBank (17)   
   EMBL (17)   
3D Structure (1)   
   PDB (1)   
Protein domain (4)   
   Pfam (4)   
All databases (86)   

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