KEGG   Homo sapiens (human): 2161
Entry
2161              CDS       T01001                                 

Symbol
F12, HAE3, HAEX, HAF
Name
(RefSeq) coagulation factor XII
  KO
K01328  coagulation factor XII (Hageman factor) [EC:3.4.21.38]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04610  Complement and coagulation cascades
Disease
H00941  Factor XII deficiency
H01006  Hereditary angioedema
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09151 Immune system
   04610 Complement and coagulation cascades
    2161 (F12)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01002 Peptidases and inhibitors [BR:hsa01002]
    2161 (F12)
  09183 Protein families: signaling and cellular processes
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    2161 (F12)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.4  Acting on peptide bonds (peptidases)
   3.4.21  Serine endopeptidases
    3.4.21.38  coagulation factor XIIa
     2161 (F12)
Peptidases and inhibitors [BR:hsa01002]
 Serine peptidases
  Family S1: chymotrypsin family
   2161 (F12)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 Fibronectin (FN) domain-containing proteins
  Fibronectin type I domain-containing proteins
   2161 (F12)
SSDB
Motif
Pfam: Trypsin Kringle fn2 EGF fn1 Trypsin_2 hEGF EGF_2 DUF1986
Other DBs
NCBI-GeneID: 2161
NCBI-ProteinID: NP_000496
OMIM: 610619
HGNC: 3530
Ensembl: ENSG00000131187
Vega: OTTHUMG00000163403
Pharos: P00748(Tbio)
UniProt: P00748 Q8IZZ5
Structure
PDB: 

Position
5q35.3
AA seq 615 aa
MRALLLLGFLLVSLESTLSIPPWEAPKEHKYKAEEHTVVLTVTGEPCHFPFQYHRQLYHK
CTHKGRPGPQPWCATTPNFDQDQRWGYCLEPKKVKDHCSKHSPCQKGGTCVNMPSGPHCL
CPQHLTGNHCQKEKCFEPQLLRFFHKNEIWYRTEQAAVARCQCKGPDAHCQRLASQACRT
NPCLHGGRCLEVEGHRLCHCPVGYTGAFCDVDTKASCYDGRGLSYRGLARTTLSGAPCQP
WASEATYRNVTAEQARNWGLGGHAFCRNPDNDIRPWCFVLNRDRLSWEYCDLAQCQTPTQ
AAPPTPVSPRLHVPLMPAQPAPPKPQPTTRTPPQSQTPGALPAKREQPPSLTRNGPLSCG
QRLRKSLSSMTRVVGGLVALRGAHPYIAALYWGHSFCAGSLIAPCWVLTAAHCLQDRPAP
EDLTVVLGQERRNHSCEPCQTLAVRSYRLHEAFSPVSYQHDLALLRLQEDADGSCALLSP
YVQPVCLPSGAARPSETTLCQVAGWGHQFEGAEEYASFLQEAQVPFLSLERCSAPDVHGS
SILPGMLCAGFLEGGTDACQGDSGGPLVCEDQAAERRLTLQGIISWGSGCGDRNKPGVYT
DVAYYLAWIREHTVS
NT seq 1848 nt   +upstreamnt  +downstreamnt
atgagggctctgctgctcctggggttcctgctggtgagcttggagtcaacactttcgatt
ccaccttgggaagcccccaaggagcataagtacaaagctgaagagcacacagtcgttctc
actgtcaccggggagccctgccacttccccttccagtaccaccggcagctgtaccacaaa
tgtacccacaagggccggccaggccctcagccctggtgtgctaccacccccaactttgat
caggaccagcgatggggatactgtttggagcccaagaaagtgaaagaccactgcagcaaa
cacagcccctgccagaaaggagggacctgtgtgaacatgccaagcggcccccactgtctc
tgtccacaacacctcactggaaaccactgccagaaagagaagtgctttgagcctcagctt
ctccggtttttccacaagaatgagatatggtatagaactgagcaagcagctgtggccaga
tgccagtgcaagggtcctgatgcccactgccagcggctggccagccaggcctgccgcacc
aacccgtgcctccatgggggtcgctgcctagaggtggagggccaccgcctgtgccactgc
ccggtgggctacaccggagccttctgcgacgtggacaccaaggcaagctgctatgatggc
cgcgggctcagctaccgcggcctggccaggaccacgctctcgggtgcgccctgtcagccg
tgggcctcggaggccacctaccggaacgtgactgccgagcaagcgcggaactggggactg
ggcggccacgccttctgccggaacccggacaacgacatccgcccgtggtgcttcgtgctg
aaccgcgaccggctgagctgggagtactgcgacctggcacagtgccagaccccaacccag
gcggcgcctccgaccccggtgtcccctaggcttcatgtcccactcatgcccgcgcagccg
gcaccgccgaagcctcagcccacgacccggaccccgcctcagtcccagaccccgggagcc
ttgccggcgaagcgggagcagccgccttccctgaccaggaacggcccactgagctgcggg
cagcggctccgcaagagtctgtcttcgatgacccgcgtcgttggcgggctggtggcgcta
cgcggggcgcacccctacatcgccgcgctgtactggggccacagtttctgcgccggcagc
ctcatcgccccctgctgggtgctgacggccgctcactgcctgcaggaccggcccgcaccc
gaggatctgacggtggtgctcggccaggaacgccgtaaccacagctgtgagccgtgccag
acgttggccgtgcgctcctaccgcttgcacgaggccttctcgcccgtcagctaccagcac
gacctggctctgttgcgccttcaggaggatgcggacggcagctgcgcgctcctgtcgcct
tacgttcagccggtgtgcctgccaagcggcgccgcgcgaccctccgagaccacgctctgc
caggtggccggctggggccaccagttcgagggggcggaggaatatgccagcttcctgcag
gaggcgcaggtaccgttcctctccctggagcgctgctcagccccggacgtgcacggatcc
tccatcctccccggcatgctctgcgcagggttcctcgagggcggcaccgatgcgtgccag
ggtgattccggaggcccgctggtgtgtgaggaccaagctgcagagcgccggctcaccctg
caaggcatcatcagctggggatcgggctgtggtgaccgcaacaagccaggcgtctacacc
gatgtggcctactacctggcctggatccgggagcacaccgtttcctga

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