KEGG T01001: 1280

Homo sapiens (human): 1280

Entry

1280 CDS T01001

Gene name

COL2A1, ANFH, AOM, COL11A3, SEDC

Definition

collagen, type II, 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

H00445	Osteoarthritis with mild chondrodysplasia
H00520	Type II collagenopathies
H00805	Vitreoretinal degeneration

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:

Structure

PDB:

1U5M

Position

12q13.11

AA seq 1487 aa
MIRLGAPQTLVLLTLLVAAVLRCQGQDVQEAGSCVQDGQRYNDKDVWKPEPCRICVCDTG
TVLCDDIICEDVKDCLSPEIPFGECCPICPTDLATASGQPGPKGQKGEPGDIKDIVGPKG
PPGPQGPAGEQGPRGDRGDKGEKGAPGPRGRDGEPGTPGNPGPPGPPGPPGPPGLGGNFA
AQMAGGFDEKAGGAQLGVMQGPMGPMGPRGPPGPAGAPGPQGFQGNPGEPGEPGVSGPMG
PRGPPGPPGKPGDDGEAGKPGKAGERGPPGPQGARGFPGTPGLPGVKGHRGYPGLDGAKG
EAGAPGVKGESGSPGENGSPGPMGPRGLPGERGRTGPAGAAGARGNDGQPGPAGPPGPVG
PAGGPGFPGAPGAKGEAGPTGARGPEGAQGPRGEPGTPGSPGPAGASGNPGTDGIPGAKG
SAGAPGIAGAPGFPGPRGPPGPQGATGPLGPKGQTGEPGIAGFKGEQGPKGEPGPAGPQG
APGPAGEEGKRGARGEPGGVGPIGPPGERGAPGNRGFPGQDGLAGPKGAPGERGPSGLAG
PKGANGDPGRPGEPGLPGARGLTGRPGDAGPQGKVGPSGAPGEDGRPGPPGPQGARGQPG
VMGFPGPKGANGEPGKAGEKGLPGAPGLRGLPGKDGETGAAGPPGPAGPAGERGEQGAPG
PSGFQGLPGPPGPPGEGGKPGDQGVPGEAGAPGLVGPRGERGFPGERGSPGAQGLQGPRG
LPGTPGTDGPKGASGPAGPPGAQGPPGLQGMPGERGAAGIAGPKGDRGDVGEKGPEGAPG
KDGGRGLTGPIGPPGPAGANGEKGEVGPPGPAGSAGARGAPGERGETGPPGPAGFAGPPG
ADGQPGAKGEQGEAGQKGDAGAPGPQGPSGAPGPQGPTGVTGPKGARGAQGPPGATGFPG
AAGRVGPPGSNGNPGPPGPPGPSGKDGPKGARGDSGPPGRAGEPGLQGPAGPPGEKGEPG
DDGPSGAEGPPGPQGLAGQRGIVGLPGQRGERGFPGLPGPSGEPGKQGAPGASGDRGPPG
PVGPPGLTGPAGEPGREGSPGADGPPGRDGAAGVKGDRGETGAVGAPGAPGPPGSPGPAG
PTGKQGDRGEAGAQGPMGPSGPAGARGIQGPQGPRGDKGEAGEPGERGLKGHRGFTGLQG
LPGPPGPSGDQGASGPAGPSGPRGPPGPVGPSGKDGANGIPGPIGPPGPRGRSGETGPAG
PPGNPGPPGPPGPPGPGIDMSAFAGLGPREKGPDPLQYMRADQAAGGLRQHDAEVDATLK
SLNNQIESIRSPEGSRKNPARTCRDLKLCHPEWKSGDYWIDPNQGCTLDAMKVFCNMETG
ETCVYPNPANVPKKNWWSSKSKEKKHIWFGETINGGFHFSYGDDNLAPNTANVQMTFLRL
LSTEGSQNITYHCKNSIAYLDEAAGNLKKALLIQGSNDVEIRAEGNSRFTYTALKDGCTK
HTGKWGKTVIEYRSQKTSRLPIIDIAPMDIGGPEQEFGVDIGPVCFL

NT seq 4464 nt +upstreamnt +downstreamnt
atgattcgcctcggggctccccagacgctggtgctgctgacgctgctcgtcgccgctgtc
cttcggtgtcagggccaggatgtccaggaggctggcagctgtgtgcaggatgggcagagg
tataatgataaggatgtgtggaagccggagccctgccggatctgtgtctgtgacactggg
actgtcctctgcgacgacataatctgtgaagacgtgaaagactgcctcagccctgagatc
cccttcggagagtgctgccccatctgcccaactgacctcgccactgccagtgggcaacca
ggaccaaagggacagaaaggagaacctggagacatcaaggatattgtaggacccaaagga
cctcctgggcctcagggacctgcaggggaacaaggacccagaggggatcgtggtgacaaa
ggtgaaaaaggtgcccctggacctcgtggcagagatggagaacctgggacccctggaaat
cctggcccccctggtcctcccggcccccctggtccccctggtcttggtggaaactttgct
gcccagatggctggaggatttgatgaaaaggctggtggcgcccagttgggagtaatgcaa
ggaccaatgggccccatgggacctcgaggacctccaggccctgcaggtgctcctgggcct
caaggatttcaaggcaatcctggtgaacctggtgaacctggtgtctctggtcccatgggt
ccccgtggtcctcctggtccccctggaaagcctggtgatgatggtgaagctggaaaacct
ggaaaagctggtgaaaggggtccgcctggtcctcagggtgctcgtggtttcccaggaacc
ccaggccttcctggtgtcaaaggtcacagaggttatccaggcctggacggtgctaaggga
gaggcgggtgctcctggtgtgaagggtgagagtggttccccgggtgagaacggatctccg
ggcccaatgggtcctcgtggcctgcctggtgaaagaggacggactggccctgctggcgct
gcgggtgcccgaggcaacgatggtcagccaggccccgcagggcctccgggtcctgtcggt
cctgctggtggtcctggcttccctggtgctcctggagccaagggtgaagccggccccact
ggtgcccgtggtcctgaaggtgctcaaggtcctcgcggtgaacctggtactcctgggtcc
cctgggcctgctggtgcctccggtaaccctggaacagatggaattcctggagccaaagga
tctgctggtgctcctggcattgctggtgctcctggcttccctgggccacggggccctcct
ggccctcaaggtgcaactggtcctctgggcccgaaaggtcagacgggtgaacctggtatt
gctggcttcaaaggtgaacaaggccccaagggagaacctggccctgctggcccccaggga
gcccctggacccgctggtgaagaaggcaagagaggtgcccgtggagagcctggtggcgtt
gggcccatcggtccccctggagaaagaggtgctcccggcaaccgcggtttcccaggtcaa
gatggtctggcaggtcccaagggagcccctggagagcgagggcccagtggtcttgctggc
cccaagggagccaacggtgaccctggccgtcctggagaacctggccttcctggagcccgg
ggtctcactggccgccctggtgatgctggtcctcaaggcaaagttggcccttctggagcc
cctggtgaagatggtcgtcctggacctccaggtcctcagggggctcgtgggcagcctggt
gtcatgggtttccctggccccaaaggtgccaacggtgagcctggcaaagctggtgagaag
ggactgcctggtgctcctggtctgaggggtcttcctggcaaagatggtgagacaggtgct
gcaggaccccctggccctgctggacctgctggtgaacgaggcgagcagggtgctcctggg
ccatctgggttccagggacttcctggccctcctggtcccccaggtgaaggtggaaaacca
ggtgaccagggtgttcccggtgaagctggagcccctggcctcgtgggtcccaggggtgaa
cgaggtttcccaggtgaacgtggctctcccggtgcccagggcctccagggtccccgtggc
ctccccggcactcctggcactgatggtcccaaaggtgcatctggcccagcaggcccccct
ggggctcagggccctccaggtcttcagggaatgcctggcgagaggggagcagctggtatc
gctgggcccaaaggcgacaggggtgacgttggtgagaaaggccctgagggagcccctgga
aaggatggtggacgaggcctgacaggtcccattggcccccctggcccagctggtgctaat
ggcgagaagggagaagttggacctcctggtcctgcaggaagtgctggtgctcgtggcgct
ccgggtgaacgtggagagactgggccccccggaccagcgggatttgctgggcctcctggt
gctgatggccagcctggggccaagggtgagcaaggagaggccggccagaaaggcgatgct
ggtgcccctggtcctcagggcccctctggagcacctgggcctcagggtcctactggagtg
actggtcctaaaggagcccgaggtgcccaaggccccccgggagccactggattccctgga
gctgctggccgcgttggacccccaggctccaatggcaaccctggaccccctggtccccct
ggtccttctggaaaagatggtcccaaaggtgctcgaggagacagcggcccccctggccga
gctggtgaacccggcctccaaggtcctgctggaccccctggcgagaagggagagcctgga
gatgacggtccctctggtgccgaaggtccaccaggtccccagggtctggctggtcagaga
ggcatcgtcggtctgcctgggcaacgtggtgagagaggattccctggcttgcctggcccg
tcgggtgagcccggcaagcagggtgctcctggagcatctggagacagaggtcctcctggc
cccgtgggtcctcctggcctgacgggtcctgcaggtgaacctggacgagagggaagcccc
ggtgctgatggcccccctggcagagatggcgctgctggagtcaagggtgatcgtggtgag
actggtgctgtgggagctcctggagcccctgggccccctggctcccctggccccgctggt
ccaactggcaagcaaggagacagaggagaagctggtgcacaaggccccatgggaccctca
ggaccagctggagcccggggaatccagggtcctcaaggccccagaggtgacaaaggagag
gctggagagcctggcgagagaggcctgaagggacaccgtggcttcactggtctgcagggt
ctgcccggccctcctggtccttctggagaccaaggtgcttctggtcctgctggtccttct
ggccctagaggtcctcctggccccgtcggtccctctggcaaagatggtgctaatggaatc
cctggccccattgggcctcctggtccccgtggacgatcaggcgaaaccggccctgctggt
cctcctggaaatcctggaccccctggtcctccaggtccccctggccctggcatcgacatg
tccgcctttgctggcttaggcccgagagagaagggccccgaccccctgcagtacatgcgg
gccgaccaggcagccggtggcctgagacagcatgacgccgaggtggatgccacactcaag
tccctcaacaaccagattgagagcatccgcagccccgagggctcccgcaagaaccctgct
cgcacctgcagagacctgaaactctgccaccctgagtggaagagtggagactactggatt
gaccccaaccaaggctgcaccttggacgccatgaaggttttctgcaacatggagactggc
gagacttgcgtctaccccaatccagcaaacgttcccaagaagaactggtggagcagcaag
agcaaggagaagaaacacatctggtttggagaaaccatcaatggtggcttccatttcagc
tatggagatgacaatctggctcccaacactgccaacgtccagatgaccttcctacgcctg
ctgtccacggaaggctcccagaacatcacctaccactgcaagaacagcattgcctatctg
gacgaagcagctggcaacctcaagaaggccctgctcatccagggctccaatgacgtggag
atccgggcagagggcaatagcaggttcacgtacactgccctgaaggatggctgcacgaaa
cataccggtaagtggggcaagactgttatcgagtaccggtcacagaagacctcacgcctc
cccatcattgacattgcacccatggacataggagggcccgagcaggaattcggtgtggac
atagggccggtctgcttcttgtaa

All links

Ontology (1)   
   KEGG BRITE (1)   
Pathway (5)   
   KEGG PATHWAY (5)   
Disease (19)   
   KEGG DISEASE (3)   
   OMIM (16)   
Genome (1)   
   KEGG GENOME (1)   
Gene (18)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (10)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (3)   
   UniProt (1)   
   RefSeq(pep) (2)   
DNA sequence (20)   
   RefSeq(nuc) (2)   
   GenBank (9)   
   EMBL (9)   
3D Structure (1)   
   PDB (1)   
Protein domain (3)   
   Pfam (3)   
All databases (71)   

Download RDF

DBGET integrated database retrieval system