KEGG T01001: 1277

Homo sapiens (human): 1277

Entry

1277 CDS T01001

Gene name

COL1A1, OI4

Definition

collagen, type I, alpha 1

Orthology

K06236

collagen, type I/II/III/V/XI/XXIV/XXVII, alpha

Organism

hsa Homo sapiens (human)

Pathway

hsa04151	PI3K-Akt signaling pathway
hsa04510	Focal adhesion
hsa04512	ECM-receptor interaction
hsa04974	Protein digestion and absorption
hsa05146	Amoebiasis

Disease

H00506	Osteogenesis imperfecta
H00613	Infantile cortical hyperostosis
H00802	Ehlers-Danlos syndrome (EDS)

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]
Human Diseases; Infectious diseases; Amoebiasis [PATH:hsa05146]

SSDB

Motif

Pfam:

Collagen COLFI VWC

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Position

17q21.33

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 (1)   
   KEGG BRITE (1)   
Pathway (5)   
   KEGG PATHWAY (5)   
Disease (12)   
   KEGG DISEASE (3)   
   OMIM (9)   
Genome (1)   
   KEGG GENOME (1)   
Gene (27)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (18)   
   UniGene (2)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (2)   
   UniProt (1)   
   RefSeq(pep) (1)   
DNA sequence (35)   
   RefSeq(nuc) (1)   
   GenBank (17)   
   EMBL (17)   
Protein domain (3)   
   Pfam (3)   
All databases (86)   

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