KEGG   Homo sapiens (human): 1282Help
Entry
1282              CDS       T01001                                 

Gene name
COL4A1, BSVD, RATOR
Definition
(RefSeq) collagen type IV alpha 1 chain
  KO
K06237  collagen, type IV, alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04926  Relaxin signaling pathway
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04974  Protein digestion and absorption
hsa05146  Amoebiasis
hsa05165  Human papillomavirus infection
hsa05200  Pathways in cancer
hsa05222  Small cell lung cancer
Disease
H00579  Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC)
H00839  Porencephaly
H00877  Brain small vessel disease with hemorrhage
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04151 PI3K-Akt signaling pathway
    1282 (COL4A1)
  Signaling molecules and interaction
   04512 ECM-receptor interaction
    1282 (COL4A1)
 Cellular Processes
  Cellular community - eukaryotes
   04510 Focal adhesion
    1282 (COL4A1)
 Organismal Systems
  Endocrine system
   04926 Relaxin signaling pathway
    1282 (COL4A1)
  Digestive system
   04974 Protein digestion and absorption
    1282 (COL4A1)
 Human Diseases
  Cancers
   05200 Pathways in cancer
    1282 (COL4A1)
   05222 Small cell lung cancer
    1282 (COL4A1)
  Endocrine and metabolic diseases
   04933 AGE-RAGE signaling pathway in diabetic complications
    1282 (COL4A1)
  Infectious diseases
   05165 Human papillomavirus infection
    1282 (COL4A1)
   05146 Amoebiasis
    1282 (COL4A1)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other cancer cells
   1282 (COL4A1)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate/Haparin
  Extracellular matrix molecules (General comment) Storage depot, cell adhesion and motility, ECM/barrier formation
   1282 (COL4A1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Collagen C4
Motif
Other DBs
NCBI-GeneID: 1282
NCBI-ProteinID: NP_001836
OMIM: 120130
HGNC: 2202
Ensembl: ENSG00000187498
Vega: OTTHUMG00000017342
Pharos: P02462(Tbio)
UniProt: P02462
Structure
PDB: 

Jmol
Position
13q34
AA seq 1669 aa AA seqDB search
MGPRLSVWLLLLPAALLLHEEHSRAAAKGGCAGSGCGKCDCHGVKGQKGERGLPGLQGVI
GFPGMQGPEGPQGPPGQKGDTGEPGLPGTKGTRGPPGASGYPGNPGLPGIPGQDGPPGPP
GIPGCNGTKGERGPLGPPGLPGFAGNPGPPGLPGMKGDPGEILGHVPGMLLKGERGFPGI
PGTPGPPGLPGLQGPVGPPGFTGPPGPPGPPGPPGEKGQMGLSFQGPKGDKGDQGVSGPP
GVPGQAQVQEKGDFATKGEKGQKGEPGFQGMPGVGEKGEPGKPGPRGKPGKDGDKGEKGS
PGFPGEPGYPGLIGRQGPQGEKGEAGPPGPPGIVIGTGPLGEKGERGYPGTPGPRGEPGP
KGFPGLPGQPGPPGLPVPGQAGAPGFPGERGEKGDRGFPGTSLPGPSGRDGLPGPPGSPG
PPGQPGYTNGIVECQPGPPGDQGPPGIPGQPGFIGEIGEKGQKGESCLICDIDGYRGPPG
PQGPPGEIGFPGQPGAKGDRGLPGRDGVAGVPGPQGTPGLIGQPGAKGEPGEFYFDLRLK
GDKGDPGFPGQPGMPGRAGSPGRDGHPGLPGPKGSPGSVGLKGERGPPGGVGFPGSRGDT
GPPGPPGYGPAGPIGDKGQAGFPGGPGSPGLPGPKGEPGKIVPLPGPPGAEGLPGSPGFP
GPQGDRGFPGTPGRPGLPGEKGAVGQPGIGFPGPPGPKGVDGLPGDMGPPGTPGRPGFNG
LPGNPGVQGQKGEPGVGLPGLKGLPGLPGIPGTPGEKGSIGVPGVPGEHGAIGPPGLQGI
RGEPGPPGLPGSVGSPGVPGIGPPGARGPPGGQGPPGLSGPPGIKGEKGFPGFPGLDMPG
PKGDKGAQGLPGITGQSGLPGLPGQQGAPGIPGFPGSKGEMGVMGTPGQPGSPGPVGAPG
LPGEKGDHGFPGSSGPRGDPGLKGDKGDVGLPGKPGSMDKVDMGSMKGQKGDQGEKGQIG
PIGEKGSRGDPGTPGVPGKDGQAGQPGQPGPKGDPGISGTPGAPGLPGPKGSVGGMGLPG
TPGEKGVPGIPGPQGSPGLPGDKGAKGEKGQAGPPGIGIPGLRGEKGDQGIAGFPGSPGE
KGEKGSIGIPGMPGSPGLKGSPGSVGYPGSPGLPGEKGDKGLPGLDGIPGVKGEAGLPGT
PGPTGPAGQKGEPGSDGIPGSAGEKGEPGLPGRGFPGFPGAKGDKGSKGEVGFPGLAGSP
GIPGSKGEQGFMGPPGPQGQPGLPGSPGHATEGPKGDRGPQGQPGLPGLPGPMGPPGLPG
IDGVKGDKGNPGWPGAPGVPGPKGDPGFQGMPGIGGSPGITGSKGDMGPPGVPGFQGPKG
LPGLQGIKGDQGDQGVPGAKGLPGPPGPPGPYDIIKGEPGLPGPEGPPGLKGLQGLPGPK
GQQGVTGLVGIPGPPGIPGFDGAPGQKGEMGPAGPTGPRGFPGPPGPDGLPGSMGPPGTP
SVDHGFLVTRHSQTIDDPQCPSGTKILYHGYSLLYVQGNERAHGQDLGTAGSCLRKFSTM
PFLFCNINNVCNFASRNDYSYWLSTPEPMPMSMAPITGENIRPFISRCAVCEAPAMVMAV
HSQTIQIPPCPSGWSSLWIGYSFVMHTSAGAEGSGQALASPGSCLEEFRSAPFIECHGRG
TCNYYANAYSFWLATIERSEMFKKPTPSTLKAGELRTHVSRCQVCMRRT
NT seq 5010 nt NT seq  +upstreamnt  +downstreamnt
atggggccccggctcagcgtctggctgctgctgctgcccgccgcccttctgctccacgag
gagcacagccgggccgctgcgaagggtggctgtgctggctctggctgtggcaaatgtgac
tgccatggagtgaagggacaaaagggtgaaagaggcctcccggggttacaaggtgtcatt
gggtttcctggaatgcaaggacctgaggggccacagggaccaccaggacaaaagggtgat
actggagaaccaggactacctggaacaaaagggacaagaggacctccgggagcatctggc
taccctggaaacccaggacttcccggaattcctggccaagacggcccgccaggcccccca
ggtattccaggatgcaatggcacaaagggggagagagggccgctcgggcctcctggcttg
cctggtttcgctggaaatcccggaccaccaggcttaccagggatgaagggtgatccaggt
gagatacttggccatgtgcccgggatgctgttgaaaggtgaaagaggatttcccggaatc
ccagggactccaggcccaccaggactgccagggcttcaaggtcctgttgggcctccagga
tttaccggaccaccaggtcccccaggccctcccggccctccaggtgaaaagggacaaatg
ggcttaagttttcaaggaccaaaaggtgacaagggtgaccaaggggtcagtgggcctcca
ggagtaccaggacaagctcaagttcaagaaaaaggagacttcgccaccaagggagaaaag
ggccaaaaaggtgaacctggatttcaggggatgccaggggtcggagagaaaggtgaaccc
ggaaaaccaggacccagaggcaaacccggaaaagatggtgacaaaggggaaaaagggagt
cccggttttcctggtgaacccgggtacccaggactcataggccgccagggcccgcaggga
gaaaagggtgaagcaggtcctcctggcccacctggaattgttataggcacaggacctttg
ggagaaaaaggagagaggggctaccctggaactccggggccaagaggagagccaggccca
aaaggtttcccaggactaccaggccaacccggacctccaggcctccctgtacctgggcag
gctggtgcccctggcttccctggtgaaagaggagaaaaaggtgaccgaggatttcctggt
acatctctgccaggaccaagtggaagagatgggctcccgggtcctcctggttcccctggg
ccccctgggcagcctggctacacaaatggaattgtggaatgtcagcccggacctccaggt
gaccagggtcctcctggaattccagggcagccaggatttataggcgaaattggagagaaa
ggtcaaaaaggagagagttgcctcatctgtgatatagacggatatcgggggcctcccggg
ccacagggacccccgggagaaataggtttcccagggcagccaggggccaagggcgacaga
ggtttgcctggcagagatggtgttgcaggagtgccaggccctcaaggtacaccagggctg
ataggccagccaggagccaagggggagcctggtgagttttatttcgacttgcggctcaaa
ggtgacaaaggagacccaggctttccaggacagcccggcatgccagggagagcgggttct
cctggaagagatggccatccgggtcttcctggccccaagggctcgccgggttctgtagga
ttgaaaggagagcgtggcccccctggaggagttggattcccaggcagtcgtggtgacacc
ggcccccctgggcctccaggatatggtcctgctggtcccattggtgacaaaggacaagca
ggctttcctggaggccctggatccccaggcctgccaggtccaaagggtgaaccaggaaaa
attgttcctttaccaggcccccctggagcagaaggactgccggggtccccaggcttccca
ggtccccaaggagaccgaggctttcccggaaccccaggaaggccaggcctgccaggagag
aagggcgctgtgggccagccaggcattggatttccagggccccccggccccaaaggtgtt
gacggcttacctggagacatggggccaccggggactccaggtcgcccgggatttaatggc
ttacctgggaacccaggtgtgcagggccagaagggagagcctggagttggtctaccggga
ctcaaaggtttgccaggtcttcccggcattcctggcacacccggggagaaggggagcatt
ggggtaccaggcgttcctggagaacatggagcgatcggaccccctgggcttcaggggatc
agaggtgaaccgggacctcctggattgccaggctccgtggggtctccaggagttccagga
ataggcccccctggagctaggggtccccctggaggacagggaccaccggggttgtcaggc
cctcctggaataaaaggagagaagggtttccccggattccctggactggacatgccgggc
cctaaaggagataaaggggctcaaggactccctggcataacgggacagtcggggctccct
ggccttcctggacagcagggggctcctgggattcctgggtttccaggttccaagggagaa
atgggcgtcatggggacccccgggcagccgggctcaccaggaccagtgggtgctcctgga
ttaccgggtgaaaaaggggaccatggctttccgggctcctcaggacccaggggagaccct
ggcttgaaaggtgataagggggatgtcggtctccctggcaagcctggctccatggataag
gtggacatgggcagcatgaagggccagaaaggagaccaaggagagaaaggacaaattgga
ccaattggtgagaagggatcccgaggagaccctgggaccccaggagtgcctggaaaggac
gggcaggcaggacagcctgggcagccaggacctaaaggtgatccaggtataagtggaacc
ccaggtgctccaggacttccgggaccaaaaggatctgttggtggaatgggcttgccagga
acacctggagagaaaggtgtgcctggcatccctggcccacaaggttcacctggcttacct
ggagacaaaggtgcaaaaggagagaaagggcaggcaggcccacctggcataggcatccca
gggctgcgaggtgaaaagggagatcaagggatagcgggtttcccaggaagccctggagag
aagggagaaaaaggaagcattgggatcccaggaatgccagggtccccaggccttaaaggg
tctcccgggagtgttggctatccaggaagtcctgggctacctggagaaaaaggtgacaaa
ggcctcccaggattggatggcatccctggtgtcaaaggagaagcaggtcttcctgggact
cctggccccacaggcccagctggccagaaaggggagccaggcagtgatggaatcccgggg
tcagcaggagagaagggtgaaccaggtctaccaggaagaggattcccagggtttccaggg
gccaaaggagacaaaggttcaaagggtgaggtgggtttcccaggattagccgggagccca
ggaattcctggatccaaaggagagcaaggattcatgggtcctccggggccccagggacag
ccggggttaccgggatccccaggccatgccacggaggggcccaaaggagaccgcggacct
cagggccagcctggcctgccaggacttccgggacccatggggcctccagggcttcctggg
attgatggagttaaaggtgacaaaggaaatccaggctggccaggagcacccggtgtccca
gggcccaagggagaccctggattccagggcatgcctggtattggtggctctccaggaatc
acaggctctaagggtgatatggggcctccaggagttccaggatttcaaggtccaaaaggt
cttcctggcctccagggaattaaaggtgatcaaggcgatcaaggcgtcccgggagctaaa
ggtctcccgggtcctcctggccccccaggtccttacgacatcatcaaaggggagcccggg
ctccctggtcctgagggccccccagggctgaaagggcttcagggactgccaggcccgaaa
ggccagcaaggtgttacaggattggtgggtatacctggacctccaggtattcctgggttt
gacggtgcccctggccagaaaggagagatgggacctgccgggcctactggtccaagagga
tttccaggtccaccaggccccgatgggttgccaggatccatggggcccccaggcacccca
tctgttgatcacggcttccttgtgaccaggcatagtcaaacaatagatgacccacagtgt
ccttctgggaccaaaattctttaccacgggtactctttgctctacgtgcaaggcaatgaa
cgggcccatggccaggacttgggcacggccggcagctgcctgcgcaagttcagcacaatg
cccttcctgttctgcaatattaacaacgtgtgcaactttgcatcacgaaatgactactcg
tactggctgtccacccctgagcccatgcccatgtcaatggcacccatcacgggggaaaac
ataagaccatttattagtaggtgtgctgtgtgtgaggcgcctgccatggtgatggccgtg
cacagccagaccattcagatcccaccgtgccccagcgggtggtcctcgctgtggatcggc
tactcttttgtgatgcacaccagcgctggtgcagaaggctctggccaagccctggcgtcc
cccggctcctgcctggaggagtttagaagtgcgccattcatcgagtgtcacggccgtggg
acctgcaattactacgcaaacgcttacagcttttggctcgccaccatagagaggagcgag
atgttcaagaagcctacgccgtccaccttgaaggcaggggagctgcgcacgcacgtcagc
cgctgccaagtctgtatgagaagaacataa

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