P05155

PTMD Annotation Information

※ Protein Information

Tag	Content
UniProt Accession	IC1_HUMAN; P05155;
Entrez ID	710
GenBank Protein ID	NM_000062.2; NM_001032295.1;
GenBank Nucleotide ID	NP_000053.2; NP_001027466.1;
Protein Name	Plasma protease C1 inhibitor (C1 Inh) (C1Inh) (C1 esterase inhibitor) (C1-inhibiting factor) (Serpin G1)
Gene Name	SERPING1; C1IN; C1NH
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	Activation of the C1 complex is under control of the C1-inhibitor. It forms a proteolytically inactive stoichiometric complex with the C1r or C1s proteases. May play a potentially crucial role in regulating important physiological pathways including complement activation, blood coagulation, fibrinolysis and the generation of kinins. Very efficient inhibitor of FXIIa. Inhibits chymotrypsin and kallikrein. Functional Description Activation of the C1 complex is under control of the C1-inhibitor. It forms a proteolytically inactive stoichiometric complex with the C1r or C1s proteases. May play a potentially crucial role in regulating important physiological pathways including complement activation, blood coagulation, fibrinolysis and the generation of kinins. Very efficient inhibitor of FXIIa. Inhibits chymotrypsin and kallikrein.
Sequence (Fasta)	MASRLTLLTL LLLLLAGDRA SSNPNATSSS SQDPESLQDR GEGKVATTVI SKMLFVEPIL 60 EVSSLPTTNS TTNSATKITA NTTDEPTTQP TTEPTTQPTI QPTQPTTQLP TDSPTQPTTG 120 SFCPGPVTLC SDLESHSTEA VLGDALVDFS LKLYHAFSAM KKVETNMAFS PFSIASLLTQ 180 VLLGAGENTK TNLESILSYP KDFTCVHQAL KGFTTKGVTS VSQIFHSPDL AIRDTFVNAS 240 RTLYSSSPRV LSNNSDANLE LINTWVAKNT NNKISRLLDS LPSDTRLVLL NAIYLSAKWK 300 TTFDPKKTRM EPFHFKNSVI KVPMMNSKKY PVAHFIDQTL KAKVGQLQLS HNLSLVILVP 360 QNLKHRLEDM EQALSPSVFK AIMEKLEMSK FQPTLLTLPR IKVTTSQDML SIMEKLEFFD 420 FSYDLNLCGL TEDPDLQVSA MQHQTVLELT ETGVEAAAAS AISVARTLLV FEVQQPFLFV 480 LWDQQHKFPV FMGRVYDPRA 501 Fasta Sequence >P05155\|SERPING1; C1IN; C1NH\|Homo sapiens (Human) MASRLTLLTLLLLLLAGDRASSNPNATSSSSQDPESLQDRGEGKVATTVISKMLFVEPILEVSSLPTTNSTTNSATKITANTTDEPTTQPTTEPTTQPTIQPTQPTTQLPTDSPTQPTTGSFCPGPVTLCSDLESHSTEAVLGDALVDFSLKLYHAFSAMKKVETNMAFSPFSIASLLTQVLLGAGENTKTNLESILSYPKDFTCVHQALKGFTTKGVTSVSQIFHSPDLAIRDTFVNASRTLYSSSPRVLSNNSDANLELINTWVAKNTNNKISRLLDSLPSDTRLVLLNAIYLSAKWKTTFDPKKTRMEPFHFKNSVIKVPMMNSKKYPVAHFIDQTLKAKVGQLQLSHNLSLVILVPQNLKHRLEDMEQALSPSVFKAIMEKLEMSKFQPTLLTLPRIKVTTSQDMLSIMEKLEFFDFSYDLNLCGLTEDPDLQVSAMQHQTVLELTETGVEAAAASAISVARTLLVFEVQQPFLFVLWDQQHKFPVFMGRVYDPRA

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Glycosylation	Angioedema hereditary type II		P		2118657
1	[Reference]: Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation site.

※ Disease Cross-ref Annotation

Database	Annotation
CTD (Curated) (count: 8) (view all)	MESH:C538173 ; Acquired angioedema MESH:D054179 ; Angioedemas, Hereditary MESH:D056486 ; Chemical and Drug Induced Liver Injury MESH:C565168 ; Complement Component 4, Partial Deficiency Of MESH:D056829 ; Hereditary Angioedema Types I and II MESH:D007251 ; Influenza, Human MESH:D008103 ; Liver Cirrhosis MESH:D008181 ; Lupus Nephritis
HGMD (count: 340) (view all)	CP087137; Angioneurotic oedema; Complex rearrangements CD087112; Angioneurotic oedema; Small deletions CD072487; Vasculitic neuropathy; Small deletions CD053607; Angioneurotic oedema; Small deletions CD087146; Angioneurotic oedema; Small deletions CD087116; Angioneurotic oedema; Small deletions CD941627; Angioneurotic oedema; Small deletions CD053608; Angioneurotic oedema; Small deletions CD084216; Angioneurotic oedema; Small deletions CD087113; Angioneurotic oedema; Small deletions CD087125; Angioneurotic oedema; Small deletions CD033555; Angioneurotic oedema; Small deletions CD053609; Angioneurotic oedema; Small deletions CD004587; Angioneurotic oedema; Small deletions CD941626; Angioneurotic oedema; Small deletions CD961870; Angioneurotic oedema; Small deletions CD087124; Angioneurotic oedema; Small deletions CD087119; Angioneurotic oedema; Small deletions CD078001; Angioneurotic oedema; Small deletions CD084217; Angioneurotic oedema; Small deletions CD087126; Angioneurotic oedema; Small deletions CD022907; Angioneurotic oedema; Small deletions CD087111; Angioneurotic oedema; Small deletions CD084218; Angioneurotic oedema; Small deletions CD087122; Angioneurotic oedema; Small deletions CD961868; Angioneurotic oedema; Small deletions CD084219; Angioneurotic oedema; Small deletions CD973251; Angioneurotic oedema; Small deletions CD053610; Angioneurotic oedema; Small deletions CD084220; Angioneurotic oedema; Small deletions CD032759; Angioneurotic oedema; Small deletions CD087115; Angioneurotic oedema; Small deletions CD020872; Angioneurotic oedema; Small deletions CD077701; Angioneurotic oedema; Small deletions CD087109; Angioneurotic oedema; Small deletions CD020873; Angioneurotic oedema; Small deletions CD087117; Angioneurotic oedema; Small deletions CD053611; Angioneurotic oedema; Small deletions CD033556; Angioneurotic oedema; Small deletions CD072488; Angioneurotic oedema; Small deletions CD065791; Angioneurotic oedema; Small deletions CD020871; Angioneurotic oedema; Small deletions CD961869; Angioneurotic oedema; Small deletions CD072489; Angioneurotic oedema; Small deletions CD087121; Angioneurotic oedema; Small deletions CD053612; Angioneurotic oedema; Small deletions CD004915; Angioneurotic oedema; Small deletions CD910486; Angioneurotic oedema; Small deletions CD004912; Angioneurotic oedema; Small deletions CD973252; Angioneurotic oedema; Small deletions CD087114; Angioneurotic oedema; Small deletions CD004914; Angioneurotic oedema; Small deletions CD087120; Angioneurotic oedema; Small deletions CD087128; Angioneurotic oedema; Small deletions CD053613; Angioneurotic oedema; Small deletions CD961871; Angioneurotic oedema; Small deletions CD053614; Angioneurotic oedema; Small deletions CD921031; Angioneurotic oedema; Small deletions CD077702; Angioneurotic oedema; Small deletions CD084221; Angioneurotic oedema; Small deletions CD084222; Angioneurotic oedema; Small deletions CD004913; Angioneurotic oedema; Small deletions CD087123; Angioneurotic oedema; Small deletions CD004588; Angioneurotic oedema; Small deletions CD087110; Angioneurotic oedema; Small deletions CD053615; Angioneurotic oedema; Small deletions CD072490; Angioneurotic oedema; Small deletions CD084223; Angioneurotic oedema; Small deletions CD961872; Angioneurotic oedema; Small deletions CD053616; Angioneurotic oedema; Small deletions CD020870; Angioneurotic oedema; Small deletions CD084224; Angioneurotic oedema; Small deletions CD087127; Angioneurotic oedema; Small deletions CD087118; Angioneurotic oedema; Small deletions CD035068; Angioneurotic oedema; Small deletions CG053683; Angioneurotic oedema; Gross deletions CG084550; Angioneurotic oedema; Gross deletions CG061612; Angioneurotic oedema; Gross deletions CG890266; Angioneurotic oedema; Gross deletions CG035334; Angioneurotic oedema; Gross deletions CG053685; Angioneurotic oedema; Gross deletions CG900375; Angioneurotic oedema; Gross deletions CG910685; Angioneurotic oedema; Gross deletions CG053682; Angioneurotic oedema; Gross deletions CG087136; Angioneurotic oedema; Gross deletions CG087135; Angioneurotic oedema; Gross deletions CG962942; Angioneurotic oedema; Gross deletions CG900376; Angioneurotic oedema; Gross deletions CG910686; Angioneurotic oedema; Gross deletions CG942308; Angioneurotic oedema; Gross deletions CG053684; Angioneurotic oedema; Gross deletions CG035335; Angioneurotic oedema; Gross deletions CG077815; Angioneurotic oedema; Gross deletions CG900377; Angioneurotic oedema; Gross deletions CG035336; Angioneurotic oedema; Gross deletions CG053687; Angioneurotic oedema; Gross deletions CG053681; Angioneurotic oedema; Gross deletions CG910687; Angioneurotic oedema; Gross deletions CG053686; Angioneurotic oedema; Gross deletions CG910688; Angioneurotic oedema; Gross deletions CG015646; Angioneurotic oedema; Gross deletions CG015647; Angioneurotic oedema; Gross deletions CG015648; Angioneurotic oedema; Gross deletions CG087061; Angioneurotic oedema; Gross deletions CG015649; Angioneurotic oedema; Gross deletions CG087064; Angioneurotic oedema; Gross deletions CG087066; Angioneurotic oedema; Gross deletions CG087062; Angioneurotic oedema; Gross deletions CG087065; Angioneurotic oedema; Gross deletions CG087063; Angioneurotic oedema; Gross deletions CG931334; Angioneurotic oedema; Gross deletions CG900378; Angioneurotic oedema; Gross deletions CG900379; Angioneurotic oedema; Gross deletions CG910689; Angioneurotic oedema; Gross deletions CN035405; Angioneurotic oedema; Gross insertions CN053733; Angioneurotic oedema; Gross insertions CN053734; Angioneurotic oedema; Gross insertions CN910709; Angioneurotic oedema; Gross insertions CX004920; Angioneurotic oedema; Small indels CP053742; Angioneurotic oedema; Small indels CX084352; Angioneurotic oedema; Small indels CX087133; Angioneurotic oedema; Small indels CX084353; Angioneurotic oedema; Small indels CX087132; Angioneurotic oedema; Small indels CX004919; Angioneurotic oedema; Small indels CX962372; Angioneurotic oedema; Small indels CX087134; Angioneurotic oedema; Small indels CI931068; Angioneurotic oedema; Small insertions CI053669; Angioneurotic oedema; Small insertions CI084324; Angioneurotic oedema; Small insertions CI962233; Angioneurotic oedema; Small insertions CI053670; Angioneurotic oedema; Small insertions CI962234; Angioneurotic oedema; Small insertions CI910564; Angioneurotic oedema; Small insertions CI015385; Angioneurotic oedema; Small insertions CI087130; Angioneurotic oedema; Small insertions CI962232; Angioneurotic oedema; Small insertions CI022933; Angioneurotic oedema; Small insertions CI033581; Angioneurotic oedema; Small insertions CI084325; Angioneurotic oedema; Small insertions CI084326; Angioneurotic oedema; Small insertions CI084327; Angioneurotic oedema; Small insertions CI087129; Angioneurotic oedema; Small insertions CI084328; Angioneurotic oedema; Small insertions CI022932; Angioneurotic oedema; Small insertions CI084329; Angioneurotic oedema; Small insertions CI004601; Angioneurotic oedema; Small insertions CI084330; Angioneurotic oedema; Small insertions CI004600; Angioneurotic oedema; Small insertions CI941846; Angioneurotic oedema; Small insertions CI087131; Angioneurotic oedema; Small insertions CM083106; Angioneurotic oedema; Missense/nonsense CM083108; Angioneurotic oedema; Missense/nonsense HM080040; Angioneurotic oedema; Missense/nonsense CM083125; Angioneurotic oedema; Missense/nonsense CM087067; Angioneurotic oedema; Missense/nonsense CM053412; Angioneurotic oedema; Missense/nonsense CM033454; Angioneurotic oedema; Missense/nonsense CM083116; Angioneurotic oedema; Missense/nonsense CM083123; Angioneurotic oedema; Missense/nonsense CM083118; Angioneurotic oedema; Missense/nonsense CM020770; Angioneurotic oedema; Missense/nonsense CM083103; Angioneurotic oedema; Missense/nonsense CM087095; Angioneurotic oedema; Missense/nonsense CM087096; Angioneurotic oedema; Missense/nonsense CM004900; Angioneurotic oedema; Missense/nonsense CM033455; Angioneurotic oedema; Missense/nonsense CM087097; Angioneurotic oedema; Missense/nonsense CM087068; Angioneurotic oedema; Missense/nonsense CM973236; Angioneurotic oedema; Missense/nonsense CM053411; Angioneurotic oedema; Missense/nonsense CM973237; Angioneurotic oedema; Missense/nonsense CM083117; Angioneurotic oedema; Missense/nonsense CM087069; Angioneurotic oedema; Missense/nonsense CM087070; Angioneurotic oedema; Missense/nonsense CM087071; Angioneurotic oedema; Missense/nonsense CM960215; Angioneurotic oedema; Missense/nonsense CM004901; Angioneurotic oedema; Missense/nonsense CM083110; Angioneurotic oedema; Missense/nonsense CM960216; Angioneurotic oedema; Missense/nonsense CM973238; Angioneurotic oedema; Missense/nonsense CM087072; Angioneurotic oedema; Missense/nonsense CM960217; Angioneurotic oedema; Missense/nonsense CM004902; Angioneurotic oedema; Missense/nonsense CM083104; Angioneurotic oedema; Missense/nonsense CM087098; Angioneurotic oedema; Missense/nonsense CM973239; Angioneurotic oedema; Missense/nonsense CM053408; Angioneurotic oedema; Missense/nonsense CM053414; Angioneurotic oedema; Missense/nonsense CM087099; Angioneurotic oedema; Missense/nonsense CM004569; Angioneurotic oedema; Missense/nonsense CM004570; Angioneurotic oedema; Missense/nonsense CM033456; Angioneurotic oedema; Missense/nonsense CM087073; Angioneurotic oedema; Missense/nonsense CM053403; Angioneurotic oedema; Missense/nonsense CM087074; Angioneurotic oedema; Missense/nonsense CM960218; Angioneurotic oedema; Missense/nonsense CM083119; Angioneurotic oedema; Missense/nonsense CM973240; Angioneurotic oedema; Missense/nonsense CM053405; Angioneurotic oedema; Missense/nonsense CM087075; Angioneurotic oedema; Missense/nonsense CM087076; Angioneurotic oedema; Missense/nonsense CM053409; Angioneurotic oedema; Missense/nonsense CM053413; Angioneurotic oedema; Missense/nonsense CM004571; Angioneurotic oedema; Missense/nonsense CM087077; Angioneurotic oedema; Missense/nonsense CM004903; Angioneurotic oedema; Missense/nonsense CM083109; Angioneurotic oedema; Missense/nonsense CM083130; Angioneurotic oedema; Missense/nonsense CM973242; Angioneurotic oedema; Missense/nonsense CM973241; Angioneurotic oedema; Missense/nonsense CM087078; Angioneurotic oedema; Missense/nonsense CM960219; Angioneurotic oedema; Missense/nonsense CM032672; Angioneurotic oedema; Missense/nonsense CM952254; Angioneurotic oedema; Missense/nonsense CM083107; Angioneurotic oedema; Missense/nonsense CM960220; Angioneurotic oedema; Missense/nonsense CM083129; Angioneurotic oedema; Missense/nonsense CM960221; Angioneurotic oedema; Missense/nonsense CM083127; Angioneurotic oedema; Missense/nonsense CM083131; Angioneurotic oedema; Missense/nonsense CM083124; Angioneurotic oedema; Missense/nonsense CM087079; Angioneurotic oedema; Missense/nonsense CM053410; Angioneurotic oedema; Missense/nonsense CM960222; Angioneurotic oedema; Missense/nonsense CM083126; Angioneurotic oedema; Missense/nonsense CM087080; Angioneurotic oedema; Missense/nonsense CM087081; Angioneurotic oedema; Missense/nonsense CM083105; Angioneurotic oedema; Missense/nonsense CM960223; Angioneurotic oedema; Missense/nonsense CM973243; Angioneurotic oedema; Missense/nonsense CM077632; Angioneurotic oedema; Missense/nonsense CM053402; Angioneurotic oedema; Missense/nonsense CM053415; Angioneurotic oedema; Missense/nonsense CM083128; Angioneurotic oedema; Missense/nonsense CM087082; Angioneurotic oedema; Missense/nonsense CM083111; Angioneurotic oedema; Missense/nonsense CM960224; Angioneurotic oedema; Missense/nonsense CM087083; Angioneurotic oedema; Missense/nonsense CM087085; Angioneurotic oedema; Missense/nonsense CM087084; Angioneurotic oedema; Missense/nonsense CM973244; Angioneurotic oedema; Missense/nonsense CM053406; Angioneurotic oedema; Missense/nonsense CM053407; Angioneurotic oedema; Missense/nonsense CM083113; Angioneurotic oedema; Missense/nonsense CM973245; Angioneurotic oedema; Missense/nonsense CM033457; Angioneurotic oedema; Missense/nonsense CM053404; Angioneurotic oedema; Missense/nonsense CM087086; Angioneurotic oedema; Missense/nonsense CM087087; Angioneurotic oedema; Missense/nonsense CM004904; Angioneurotic oedema; Missense/nonsense CM083132; Angioneurotic oedema; Missense/nonsense CM087088; Angioneurotic oedema; Missense/nonsense CM083120; Angioneurotic oedema; Missense/nonsense CM087089; Angioneurotic oedema; Missense/nonsense CM087108; Angioneurotic oedema; Missense/nonsense CM004572; Angioneurotic oedema; Missense/nonsense HM080038; Angioneurotic oedema; Missense/nonsense CM087090; Angioneurotic oedema; Missense/nonsense CM083121; Angioneurotic oedema; Missense/nonsense CM083122; Angioneurotic oedema; Missense/nonsense CM920132; Angioneurotic oedema; Missense/nonsense CM910065; Angioneurotic oedema; Missense/nonsense CM920133; Angioneurotic oedema; Missense/nonsense CM900040; Angioneurotic oedema; Missense/nonsense CM022840; Angioneurotic oedema; Missense/nonsense CM973246; Angioneurotic oedema; Missense/nonsense CM067026; Angioneurotic oedema; Missense/nonsense CM950179; Angioneurotic oedema; Missense/nonsense CM900041; Angioneurotic oedema; Missense/nonsense CM087091; Angioneurotic oedema; Missense/nonsense CM890026; Angioneurotic oedema; Missense/nonsense CM890025; Angioneurotic oedema; Missense/nonsense CM022841; Angioneurotic oedema; Missense/nonsense CM920134; Angioneurotic oedema; Missense/nonsense CM950180; Angioneurotic oedema; Missense/nonsense CM960225; Angioneurotic oedema; Missense/nonsense CM033458; Angioneurotic oedema; Missense/nonsense CM022842; Angioneurotic oedema; Missense/nonsense CM960226; Angioneurotic oedema; Missense/nonsense CM087092; Angioneurotic oedema; Missense/nonsense CM960227; Angioneurotic oedema; Missense/nonsense CM015376; Angioneurotic oedema; Missense/nonsense CM087093; Angioneurotic oedema; Missense/nonsense CM950181; Angioneurotic oedema; Missense/nonsense CM950182; Angioneurotic oedema; Missense/nonsense CM022843; Angioneurotic oedema; Missense/nonsense CM921030; Angioneurotic oedema; Missense/nonsense CM950183; Angioneurotic oedema; Missense/nonsense CM022844; Angioneurotic oedema; Missense/nonsense CM015377; Angioneurotic oedema; Missense/nonsense CM022845; Angioneurotic oedema; Missense/nonsense CM013036; Angioneurotic oedema; Missense/nonsense CM083114; Angioneurotic oedema; Missense/nonsense CM083115; Angioneurotic oedema; Missense/nonsense CM960228; Angioneurotic oedema; Missense/nonsense CM033459; Angioneurotic oedema; Missense/nonsense CM083112; Angioneurotic oedema; Missense/nonsense CM960229; Angioneurotic oedema; Missense/nonsense CM022846; Angioneurotic oedema; Missense/nonsense CR961721; Angioneurotic oedema; Regulatory HR080001; Angioneurotic oedema; Regulatory CR961722; Angioneurotic oedema; Regulatory CS963044; Angioneurotic oedema; Splicing CS961497; Angioneurotic oedema; Splicing CS083979; Angioneurotic oedema; Splicing CS087138; Angioneurotic oedema; Splicing CS053487; Angioneurotic oedema; Splicing CS961498; Angioneurotic oedema; Splicing CS033511; Angioneurotic oedema; Splicing CS963018; Angioneurotic oedema; Splicing CS087139; Angioneurotic oedema; Splicing CS087141; Angioneurotic oedema; Splicing CS083980; Angioneurotic oedema; Splicing CS033512; Angioneurotic oedema; Splicing CS961499; Angioneurotic oedema; Splicing CS053489; Angioneurotic oedema; Splicing CS053488; Angioneurotic oedema; Splicing CS053490; Angioneurotic oedema; Splicing CS083983; Angioneurotic oedema; Splicing CS053491; Angioneurotic oedema; Splicing CS087140; Angioneurotic oedema; Splicing CS083981; Angioneurotic oedema; Splicing CS083982; Angioneurotic oedema; Splicing CS015381; Angioneurotic oedema; Splicing CS044769; Angioneurotic oedema; Splicing CS053492; Angioneurotic oedema; Splicing CS087142; Angioneurotic oedema; Splicing CS053493; Angioneurotic oedema; Splicing CS053494; Angioneurotic oedema; Splicing CS090799; Macular degeneration, age related, association with; Splicing CS961500; Angioneurotic oedema; Splicing CS087143; Angioneurotic oedema; Splicing CS083984; Angioneurotic oedema ?; Splicing CS910418; Angioneurotic oedema; Splicing CS087145; Angioneurotic oedema; Splicing HS080008; Angioneurotic oedema; Splicing CS087144; Angioneurotic oedema; Splicing CS083985; Angioneurotic oedema; Splicing CS982103; Angioneurotic oedema; Splicing
GWASdb (count: 2)	rs28362944; Obesity-related traits; obesity rs11603020; Narcolepsy; narcolepsy

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 4)	198 TNLESILSYPKDFTC dbPAF 294 LVLLNAIYLSAKWKT dbPAF 296 LLNAIYLSAKWKTTF dbPAF 460 GVEAAAASAISVART dbPAF
Acetylation (count: 1)	385 VFKAIMEKLEMSKFQ PLMD
Glycation (count: 14) (view all)	201 ESILSYPKDFTCVHQ PLMD 211 TCVHQALKGFTTKGV PLMD 216 ALKGFTTKGVTSVSQ PLMD 316 RMEPFHFKNSVIKVP PLMD 321 HFKNSVIKVPMMNSK PLMD 328 KVPMMNSKKYPVAHF PLMD 329 VPMMNSKKYPVAHFI PLMD 341 HFIDQTLKAKVGQLQ PLMD 380 ALSPSVFKAIMEKLE PLMD 385 VFKAIMEKLEMSKFQ PLMD 390 MEKLEMSKFQPTLLT PLMD 402 LLTLPRIKVTTSQDM PLMD 44 LQDRGEGKVATTVIS PLMD 487 VLWDQQHKFPVFMGR PLMD

※ Protein-Protein Interaction

Network

Interaction

A

B

Source

F5GXF0	P05155	IntAct
P00734	P05155	HPRD
P00736	P05155	HPRD
P00747	P05155	HPRD
P00750	P05155	HPRD
P02768	P05155	IntAct
P05155	P08246	HPRD
P05155	P09871	HPRD
P05155	P16109	HPRD
P05155	P16581	HPRD
P05155	P46379	IntAct
P05155	P48740	HPRD