KEGG   Homo sapiens (human): 1305
Entry
1305              CDS       T01001                                 

Gene name
COL13A1, CMS19, COLXIIIA1
Definition
(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 / Haparin
  Extracellular matrix molecules
   1305 (COL13A1)
SSDB
Motif
Pfam: Collagen
Other DBs
NCBI-GeneID: 1305
NCBI-ProteinID: NP_001123575
OMIM: 120350
HGNC: 2190
Ensembl: ENSG00000197467
Vega: OTTHUMG00000018394
Pharos: Q5TAT6(Tbio)
UniProt: Q5TAT6
Position
10q22.1
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  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (25)   
   KEGG ORTHOLOGY (1)   
   RefGene (17)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (37)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (35)   
DNA sequence (74)   
   RefSeq(nuc) (50)   
   GenBank (12)   
   EMBL (12)   
Protein domain (1)   
   Pfam (1)   
All databases (144)   

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