KEGG   Homo sapiens (human): 1305
Entry
1305              CDS       T01001                                 
Symbol
COL13A1, CMS19, COLXIIIA1
Name
(RefSeq) collagen type XIII alpha 1 chain
  KO
K16617  collagen type XIII alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04974  Protein digestion and absorption
Disease
H00770  Congenital myasthenic syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1305 (COL13A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1305 (COL13A1)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1305 (COL13A1)
SSDB
Motif
Pfam: Collagen
Other DBs
NCBI-GeneID: 1305
NCBI-ProteinID: NP_001123575
OMIM: 120350
HGNC: 2190
Ensembl: ENSG00000197467
UniProt: Q5TAT6
Position
10:69801906..69959144
AA seq 717 aa
MVAERTHKAAATGARGPGELGAPGTVALVAARAERGARLPSPGSCGLLTLALCSLALSLL
AHFRTAELQARVLRLEAERGEQQMETAILGRVNQLLDEKWKLHSRRRREAPKTSPGCNCP
PGPPGPTGRPGLPGDKGAIGMPGRVGSPGDAGLSIIGPRGPPGQPGTRGFPGFPGPIGLD
GKPGHPGPKGDMGLTGPPGQPGPQGQKGEKGQCGEYPHRECLSSMPAALRSSQIIALKLL
PLLNSVRLAPPPVIKRRTFQGEQSQASIQGPPGPPGPPGPSGPLGHPGLPGPMGPPGLPG
PPGPKGDPGIQGYHGRKGERGMPGMPGKHGAKGAPGIAVAGMKGEPGIPGTKGEKGAEGS
PGLPGLLGQKGEKGDAGNSIGGGRGEPGPPGLPGPPGPKGEAGVDGQVGPPGQPGDKGER
GAAGEQGPDGPKGSKGEPGKGEMVDYNGNINEALQEIRTLALMGPPGLPGQIGPPGAPGI
PGQKGEIGLPGPPGHDGEKGPRGKPGDMGPPGPQGPPGKDGPPGVKGENGHPGSPGEKGE
KGETGQAGSPGEKGEAGEKGNPGAEVPGLPGPEGPPGPPGLQGVPGPKGEAGLDGAKGEK
GFQGEKGDRGPLGLPGASGLDGRPGPPGTPGPIGVPGPAGPKGERGSKGDPGMTGPTGAA
GLPGLHGPPGDKGNRGERGKKGSRGPKGDKGDQGAPGLDAPCPLGEDGLPVQGCWNK
NT seq 2154 nt   +upstreamnt  +downstreamnt
atggtagcggagcgcacccacaaagcggcagccaccggtgcccgcggccctggggagttg
ggcgcgcccgggacggtggctctggtggcggcgcgggcggagcgcggcgcacggctgccg
agtccagggtcgtgcgggctgctgacgctggccctctgctcgctggcactcagcctgctc
gcccactttcggacggccgagctgcaggcccgggtgctgcgcctggaagcggagcgcggg
gagcagcaaatggagacggctattttgggacgagtcaatcaactgctggacgagaaatgg
aagctccactcaaggaggcgccgggaggccccaaagacatctccaggatgtaactgccca
ccaggacctcctggtcccactggaagacccggactcccaggggacaaaggtgccattggg
atgcctggacgtgtggggtcccccggagacgctgggctgtccatcattggtccccgcggc
ccccctggtcaaccaggaactagaggtttccctggatttccgggtcccattgggctggac
ggcaaaccgggccacccaggaccaaagggcgacatgggtctgacgggtcccccaggacag
ccgggaccccagggacaaaaaggagaaaagggtcagtgtggagagtacccacaccgggag
tgcctaagcagcatgccagcagctctgcgctccagccaaataattgccctgaagctgctg
cctctcctcaattcagtgcgactggctccacccccggtcataaaaaggcggacgttccag
ggcgaacagagccaggccagcatccaaggtccaccagggcccccaggcccccctggacca
agtggacctctggggcacccaggactgccagggcctatggggccacctggcttacctggg
cctcctggaccaaagggagacccagggatccagggctaccacggccggaagggagaacgg
ggcatgccagggatgccaggcaagcatggagccaagggggcgcccggaattgccgtggct
gggatgaagggtgagccagggatcccaggaaccaagggtgagaagggggctgaaggctcc
cctgggcttcctggcctcctggggcagaagggagagaaaggcgatgctggcaactccatt
ggaggaggcagaggggaacctggccctccagggctccctgggcccccagggccaaaggga
gaagcaggtgtcgatggccaggttggccccccagggcagccaggagacaagggggagcgt
ggagcagctggagaacagggaccagatggccccaagggctccaagggagaaccagggaaa
ggagagatggtggattacaatggaaacatcaatgaggctctccaggagatccggacgctg
gccttgatggggcctcctggtcttcctgggcaaattggcccacctggagctccagggatt
ccaggccagaagggggagattggactgccaggccctccaggacacgatggggaaaaggga
cctcgcggtaaaccaggagacatgggccctcctggtccccaaggccccccaggaaaggat
ggacctccaggagtgaagggagaaaacgggcacccagggagcccaggagagaagggggaa
aaaggggagacaggacaagcaggctcaccgggagagaaaggagaagccggggagaagggc
aatccaggagcagaggttcctgggctgccagggccagaggggcctcccggacctccgggg
ctccaaggtgttcctggaccaaagggggaagcaggactagatggagcaaaaggagagaaa
ggcttccagggagaaaaaggagaccgtggtcccctgggactacccggagcttcaggtttg
gacggcaggcctgggccaccgggtactccaggaccaattggagttccaggcccagcggga
ccaaagggcgagaggggcagcaaaggagaccctgggatgacaggaccaacgggagcagct
gggcttcctggtttacatggaccacccggggacaagggaaaccggggggagagggggaag
aaaggctctagagggcctaaaggggataagggagaccaaggagcgcctggattagatgcc
ccctgcccattgggcgaagatggcttaccagtccaaggctgctggaacaagtga

  All links  
Disease (2)   
   OMIM (2)   
Gene (22)   
   RefGene (17)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (70)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (68)   
DNA sequence (106)   
   RefSeq(nuc) (82)   
   GenBank (12)   
   EMBL (12)   
Protein domain (1)   
   Pfam (1)   
All databases (201)   

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