KEGG   Homo sapiens (human): 716
Entry
716               CDS       T01001                                 

Gene name
C1S, EDSPD2
Definition
(RefSeq) complement C1s
  KO
K01331  complement component 1, s subcomponent [EC:3.4.21.42]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04610  Complement and coagulation cascades
hsa05133  Pertussis
hsa05150  Staphylococcus aureus infection
hsa05322  Systemic lupus erythematosus
Disease
H00102  Classic complement pathway component defects
H02240  Ehlers-Danlos syndrome periodontal type
Drug target
Conestat alfa: D10845
Sutimlimab: D11530
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09151 Immune system
   04610 Complement and coagulation cascades
    716 (C1S)
 09160 Human Diseases
  09163 Immune disease
   05322 Systemic lupus erythematosus
    716 (C1S)
  09171 Infectious disease: bacterial
   05133 Pertussis
    716 (C1S)
   05150 Staphylococcus aureus infection
    716 (C1S)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01002 Peptidases and inhibitors [BR:hsa01002]
    716 (C1S)
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    716 (C1S)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.4  Acting on peptide bonds (peptidases)
   3.4.21  Serine endopeptidases
    3.4.21.42  complement subcomponent C_overbar_1s_
     716 (C1S)
Peptidases and inhibitors [BR:hsa01002]
 Serine peptidases
  Family S1: chymotrypsin family
   716 (C1S)
Membrane trafficking [BR:hsa04131]
 Endocytosis
  Phagocytosis
   Opsonins
    716 (C1S)
SSDB
Motif
Pfam: Trypsin CUB Sushi FXa_inhibition EGF_CA CUB_2 Trypsin_2 hEGF
Other DBs
NCBI-GeneID: 716
NCBI-ProteinID: NP_001725
OMIM: 120580
HGNC: 1247
Ensembl: ENSG00000182326
Vega: OTTHUMG00000150305
Pharos: P09871(Tchem)
UniProt: P09871
LinkDB
Structure
PDB: 

Position
12p13.31
AA seq 688 aa
MWCIVLFSLLAWVYAEPTMYGEILSPNYPQAYPSEVEKSWDIEVPEGYGIHLYFTHLDIE
LSENCAYDSVQIISGDTEEGRLCGQRSSNNPHSPIVEEFQVPYNKLQVIFKSDFSNEERF
TGFAAYYVATDINECTDFVDVPCSHFCNNFIGGYFCSCPPEYFLHDDMKNCGVNCSGDVF
TALIGEIASPNYPKPYPENSRCEYQIRLEKGFQVVVTLRREDFDVEAADSAGNCLDSLVF
VAGDRQFGPYCGHGFPGPLNIETKSNALDIIFQTDLTGQKKGWKLRYHGDPMPCPKEDTP
NSVWEPAKAKYVFRDVVQITCLDGFEVVEGRVGATSFYSTCQSNGKWSNSKLKCQPVDCG
IPESIENGKVEDPESTLFGSVIRYTCEEPYYYMENGGGGEYHCAGNGSWVNEVLGPELPK
CVPVCGVPREPFEEKQRIIGGSDADIKNFPWQVFFDNPWAGGALINEYWVLTAAHVVEGN
REPTMYVGSTSVQTSRLAKSKMLTPEHVFIHPGWKLLEVPEGRTNFDNDIALVRLKDPVK
MGPTVSPICLPGTSSDYNLMDGDLGLISGWGRTEKRDRAVRLKAARLPVAPLRKCKEVKV
EKPTADAEAYVFTPNMICAGGEKGMDSCKGDSGGAFAVQDPNDKTKFYAAGLVSWGPQCG
TYGLYTRVKNYVDWIMKTMQENSTPRED
NT seq 2067 nt   +upstreamnt  +downstreamnt
atgtggtgcattgtcctgttttcacttttggcatgggtttatgctgagcctaccatgtat
ggggagatcctgtcccctaactatcctcaggcatatcccagtgaggtagagaaatcttgg
gacatagaagttcctgaagggtatgggattcacctctacttcacccatctggacattgag
ctgtcagagaactgtgcgtatgactcagtgcagataatctcaggagacactgaagaaggg
aggctctgtggacagaggagcagtaacaatccccactctccaattgtggaagagttccaa
gtcccatacaacaaactccaggtgatctttaagtcagacttttccaatgaagagcgtttt
acggggtttgctgcatactatgttgccacagacataaatgaatgcacagattttgtagat
gtcccttgtagccacttctgcaacaatttcattggtggttacttctgctcctgccccccg
gaatatttcctccatgatgacatgaagaattgcggagttaattgcagtggggatgtattc
actgcactgattggggagattgcaagtcccaattatcccaaaccatatccagagaactca
aggtgtgaataccagatccggttggagaaagggttccaagtggtggtgaccttgcggaga
gaagattttgatgtggaagcagctgactcagcgggaaactgccttgacagtttagttttt
gttgcaggagatcggcaatttggtccttactgtggtcatggattccctgggcctctaaat
attgaaaccaagagtaatgctcttgatatcatcttccaaactgatctaacagggcaaaaa
aagggctggaaacttcgctatcatggagatccaatgccctgccctaaggaagacactccc
aattctgtttgggagcctgcgaaggcaaaatatgtctttagagatgtggtgcagataacc
tgtctggatgggtttgaagttgtggagggacgtgttggtgcaacatctttctattcgact
tgtcaaagcaatggaaagtggagtaattccaaactgaaatgtcaacctgtggactgtggc
attcctgaatccattgagaatggtaaagttgaagacccagagagcactttgtttggttct
gtcatccgctacacttgtgaggagccatattactacatggaaaatggaggaggtggggag
tatcactgtgctggtaacgggagctgggtgaatgaggtgctgggcccggagctgccgaaa
tgtgttccagtctgtggagtccccagagaaccctttgaagaaaaacagaggataattgga
ggatccgatgcagatattaaaaacttcccctggcaagtcttctttgacaacccatgggct
ggtggagcgctcattaatgagtactgggtgctgacggctgctcatgttgtggagggaaac
agggagccaacaatgtatgttgggtccacctcagtgcagacctcacggctggcaaaatcc
aagatgctcactcctgagcatgtgtttattcatccgggatggaagctgctggaagtccca
gaaggacgaaccaattttgataatgacattgcactggtgcggctgaaagacccagtgaaa
atgggacccaccgtctctcccatctgcctaccaggcacctcttccgactacaacctcatg
gatggggacctgggactgatctcaggctggggccgaacagagaagagagatcgtgctgtt
cgcctcaaggcggcaaggttacctgtagctcctttaagaaaatgcaaagaagtgaaagtg
gagaaacccacagcagatgcagaggcctatgttttcactcctaacatgatctgtgctgga
ggagagaagggcatggatagctgtaaaggggacagtggtggggcctttgctgtacaggat
cccaatgacaagaccaaattctacgcagctggcctggtgtcctgggggccccagtgtggg
acctatgggctctacacacgggtaaagaactatgttgactggataatgaagactatgcag
gaaaatagcaccccccgtgaggactaa

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