KEGG   Homo sapiens (human): 1277
Entry
1277              CDS       T01001                                 
Symbol
COL1A1, CAFYD, EDSARTH1, EDSC, OI1, OI2, OI3, OI4
Name
(RefSeq) collagen type I alpha 1 chain
  KO
K06236  collagen type I alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04611  Platelet activation
hsa04820  Cytoskeleton in muscle cells
hsa04926  Relaxin signaling pathway
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04974  Protein digestion and absorption
hsa05146  Amoebiasis
hsa05165  Human papillomavirus infection
hsa05205  Proteoglycans in cancer
hsa05415  Diabetic cardiomyopathy
Disease
H00506  Osteogenesis imperfecta
H00613  Infantile cortical hyperostosis
H01593  Osteoporosis
H02243  Ehlers-Danlos syndrome arthrochalasia type
H02724  Combined osteogenesis imperfecta and Ehlers-Danlos syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    1277 (COL1A1)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1277 (COL1A1)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    1277 (COL1A1)
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    1277 (COL1A1)
 09150 Organismal Systems
  09151 Immune system
   04611 Platelet activation
    1277 (COL1A1)
  09152 Endocrine system
   04926 Relaxin signaling pathway
    1277 (COL1A1)
  09154 Digestive system
   04974 Protein digestion and absorption
    1277 (COL1A1)
 09160 Human Diseases
  09161 Cancer: overview
   05205 Proteoglycans in cancer
    1277 (COL1A1)
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    1277 (COL1A1)
  09174 Infectious disease: parasitic
   05146 Amoebiasis
    1277 (COL1A1)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    1277 (COL1A1)
  09167 Endocrine and metabolic disease
   04933 AGE-RAGE signaling pathway in diabetic complications
    1277 (COL1A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1277 (COL1A1)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1277 (COL1A1)
SSDB
Motif
Pfam: Collagen COLFI VWC
Other DBs
NCBI-GeneID: 1277
NCBI-ProteinID: NP_000079
OMIM: 120150
HGNC: 2197
Ensembl: ENSG00000108821
UniProt: P02452
Structure
Position
17:complement(50184101..50201631)
AA seq 1464 aa
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRI
CVCDNGKVLCDDVICDETKNCPGAEVPEGECCPVCPDGSESPTDQETTGVEGPKGDTGPR
GPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGR
PGERGPPGPQGARGLPGTAGLPGMKGHRGFSGLDGAKGDAGPAGPKGEPGSPGENGAPGQ
MGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP
RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGP
QGPGGPPGPKGNSGEPGAPGSKGDTGAKGEPGPVGVQGPPGPAGEEGKRGARGEPGPTGL
PGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGV
PGPPGAVGPAGKDGEAGAQGPPGPAGPAGERGEQGPAGSPGFQGLPGPAGPPGEAGKPGE
QGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGDAGAPGAPGS
QGAPGLQGMPGERGAAGLPGPKGDRGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGD
KGESGPSGPAGPTGARGAPGDRGEPGPPGPAGFAGPPGADGQPGAKGEPGDAGAKGDAGP
PGPAGPAGPPGPIGNVGAPGAKGARGSAGPPGATGFPGAAGRVGPPGPSGNAGPPGPPGP
AGKEGGKGPRGETGPAGRPGEVGPPGPPGPAGEKGSPGADGPAGAPGTPGPQGIAGQRGV
VGLPGQRGERGFPGLPGPSGEPGKQGPSGASGERGPPGPMGPPGLAGPPGESGREGAPGA
EGSPGRDGSPGAKGDRGETGPAGPPGAPGAPGAPGPVGPAGKSGDRGETGPAGPAGPVGP
VGARGPAGPQGPRGDKGETGEQGDRGIKGHRGFSGLQGPPGPPGSPGEQGPSGASGPAGP
RGPPGSAGAPGKDGLNGLPGPIGPPGPRGRTGDAGPVGPPGPPGPPGPPGPPSAGFDFSF
LPQPPQEKAHDGGRYYRADDANVVRDRDLEVDTTLKSLSQQIENIRSPEGSRKNPARTCR
DLKMCHSDWKSGEYWIDPNQGCNLDAIKVFCNMETGETCVYPTQPSVAQKNWYISKNPKD
KRHVWFGESMTDGFQFEYGGQGSDPADVAIQLTFLRLMSTEASQNITYHCKNSVAYMDQQ
TGNLKKALLLQGSNEIEIRAEGNSRFTYSVTVDGCTSHTGAWGKTVIEYKTTKTSRLPII
DVAPLDVGAPDQEFGFDVGPVCFL
NT seq 4395 nt   +upstreamnt  +downstreamnt
atgttcagctttgtggacctccggctcctgctcctcttagcggccaccgccctcctgacg
cacggccaagaggaaggccaagtcgagggccaagacgaagacatcccaccaatcacctgc
gtacagaacggcctcaggtaccatgaccgagacgtgtggaaacccgagccctgccggatc
tgcgtctgcgacaacggcaaggtgttgtgcgatgacgtgatctgtgacgagaccaagaac
tgccccggcgccgaagtccccgagggcgagtgctgtcccgtctgccccgacggctcagag
tcacccaccgaccaagaaaccaccggcgtcgagggacccaagggagacactggcccccga
ggcccaaggggacccgcaggcccccctggccgagatggcatccctggacagcctggactt
cccggaccccccggaccccccggacctcccggaccccctggcctcggaggaaactttgct
ccccagctgtcttatggctatgatgagaaatcaaccggaggaatttccgtgcctggcccc
atgggtccctctggtcctcgtggtctccctggcccccctggtgcacctggtccccaaggc
ttccaaggtccccctggtgagcctggcgagcctggagcttcaggtcccatgggtccccga
ggtcccccaggtccccctggaaagaatggagatgatggggaagctggaaaacctggtcgt
cctggtgagcgtgggcctcctgggcctcagggtgctcgaggattgcccggaacagctggc
ctccctggaatgaagggacacagaggtttcagtggtttggatggtgccaagggagatgct
ggtcctgctggtcctaagggtgagcctggcagccctggtgaaaatggagctcctggtcag
atgggcccccgtggcctgcctggtgagagaggtcgccctggagcccctggccctgctggt
gctcgtggaaatgatggtgctactggtgctgccgggccccctggtcccaccggccccgct
ggtcctcctggcttccctggtgctgttggtgctaagggtgaagctggtccccaagggccc
cgaggctctgaaggtccccagggtgtgcgtggtgagcctggcccccctggccctgctggt
gctgctggccctgctggaaaccctggtgctgatggacagcctggtgctaaaggtgccaat
ggtgctcctggtattgctggtgctcctggcttccctggtgcccgaggcccctctggaccc
cagggccccggcggccctcctggtcccaagggtaacagcggtgaacctggtgctcctggc
agcaaaggagacactggtgctaagggagagcctggccctgttggtgttcaaggaccccct
ggccctgctggagaggaaggaaagcgaggagctcgaggtgaacccggacccactggcctg
cccggaccccctggcgagcgtggtggacctggtagccgtggtttccctggcgcagatggt
gttgctggtcccaagggtcccgctggtgaacgtggttctcctggccctgctggccccaaa
ggatctcctggtgaagctggtcgtcccggtgaagctggtctgcctggtgccaagggtctg
actggaagccctggcagccctggtcctgatggcaaaactggcccccctggtcccgccggt
caagatggtcgccccggacccccaggcccacctggtgcccgtggtcaggctggtgtgatg
ggattccctggacctaaaggtgctgctggagagcccggcaaggctggagagcgaggtgtt
cccggaccccctggcgctgtcggtcctgctggcaaagatggagaggctggagctcaggga
ccccctggccctgctggtcccgctggcgagagaggtgaacaaggccctgctggctccccc
ggattccagggtctccctggtcctgctggtcctccaggtgaagcaggcaaacctggtgaa
cagggtgttcctggagaccttggcgcccctggcccctctggagcaagaggcgagagaggt
ttccctggcgagcgtggtgtgcaaggtccccctggtcctgctggtccccgaggggccaac
ggtgctcccggcaacgatggtgctaagggtgatgctggtgcccctggagctcccggtagc
cagggcgcccctggccttcagggaatgcctggtgaacgtggtgcagctggtcttccaggg
cctaagggtgacagaggtgatgctggtcccaaaggtgctgatggctctcctggcaaagat
ggcgtccgtggtctgactggccccattggtcctcctggccctgctggtgcccctggtgac
aagggtgaaagtggtcccagcggccctgctggtcccactggagctcgtggtgcccccgga
gaccgtggtgagcctggtccccccggccctgctggctttgctggcccccctggtgctgac
ggccaacctggtgctaaaggcgaacctggtgatgctggtgctaaaggcgatgctggtccc
cctggccctgccggacccgctggaccccctggccccattggtaatgttggtgctcctgga
gccaaaggtgctcgcggcagcgctggtccccctggtgctactggtttccctggtgctgct
ggccgagtcggtcctcctggcccctctggaaatgctggaccccctggccctcctggtcct
gctggcaaagaaggcggcaaaggtccccgtggtgagactggccctgctggacgtcctggt
gaagttggtccccctggtccccctggccctgctggcgagaaaggatcccctggtgctgat
ggtcctgctggtgctcctggtactcccgggcctcaaggtattgctggacagcgtggtgtg
gtcggcctgcctggtcagagaggagagagaggcttccctggtcttcctggcccctctggt
gaacctggcaaacaaggtccctctggagcaagtggtgaacgtggtccccctggtcccatg
ggcccccctggattggctggaccccctggtgaatctggacgtgagggggctcctggtgcc
gaaggttcccctggacgagacggttctcctggcgccaagggtgaccgtggtgagaccggc
cccgctggaccccctggtgctcctggtgctcctggtgcccctggccccgttggccctgct
ggcaagagtggtgatcgtggtgagactggtcctgctggtcccgccggtcctgtcggccct
gttggcgcccgtggccccgccggaccccaaggcccccgtggtgacaagggtgagacaggc
gaacagggcgacagaggcataaagggtcaccgtggcttctctggcctccagggtccccct
ggccctcctggctctcctggtgaacaaggtccctctggagcctctggtcctgctggtccc
cgaggtccccctggctctgctggtgctcctggcaaagatggactcaacggtctccctggc
cccattgggccccctggtcctcgcggtcgcactggtgatgctggtcctgttggtcccccc
ggccctcctggacctcctggtccccctggtcctcccagcgctggtttcgacttcagcttc
ctgccccagccacctcaagagaaggctcacgatggtggccgctactaccgggctgatgat
gccaatgtggttcgtgaccgtgacctcgaggtggacaccaccctcaagagcctgagccag
cagatcgagaacatccggagcccagagggcagccgcaagaaccccgcccgcacctgccgt
gacctcaagatgtgccactctgactggaagagtggagagtactggattgaccccaaccaa
ggctgcaacctggatgccatcaaagtcttctgcaacatggagactggtgagacctgcgtg
taccccactcagcccagtgtggcccagaagaactggtacatcagcaagaaccccaaggac
aagaggcatgtctggttcggcgagagcatgaccgatggattccagttcgagtatggcggc
cagggctccgaccctgccgatgtggccatccagctgaccttcctgcgcctgatgtccacc
gaggcctcccagaacatcacctaccactgcaagaacagcgtggcctacatggaccagcag
actggcaacctcaagaaggccctgctcctccagggctccaacgagatcgagatccgcgcc
gagggcaacagccgcttcacctacagcgtcactgtcgatggctgcacgagtcacaccgga
gcctggggcaagacagtgattgaatacaaaaccaccaagacctcccgcctgcccatcatc
gatgtggcccccttggacgttggtgccccagaccaggaattcggcttcgacgttggccct
gtctgcttcctgtaa

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (12)   
   KEGG PATHWAY (12)   
Disease (14)   
   KEGG DISEASE (5)   
   OMIM (9)   
Genome (1)   
   KEGG GENOME (1)   
Gene (37)   
   KEGG ORTHOLOGY (1)   
   RefGene (29)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (9)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (7)   
DNA sequence (37)   
   RefSeq(nuc) (7)   
   GenBank (15)   
   EMBL (15)   
3D Structure (13)   
   PDB (13)   
Protein domain (3)   
   Pfam (3)   
All databases (128)   

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