• Gene id: 710

Gene Summary

• Gene Symbol: SERPING1   Gene   UCSC   Ensembl
• Aliases: C1IN, C1INH, C1NH, HAE1, HAE2
• Gene name: serpin family G member 1
• Alternate names: plasma protease C1 inhibitor, C1 esterase inhibitor, C1-inhibiting factor, C1-inhibitor, complement component 1 inhibitor, epididymis secretory sperm binding protein, serine/cysteine proteinase inhibitor clade G member 1, serpin G1, serpin peptidase inhibitor cla,
• Gene location: 11q12.1 (57597684: 57614847)     Exons: 8     NC_000011.10
• Gene summary(Entrez): This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its encoded protein, C1 inhibitor, inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. It i
• OMIM: 165270

SNPs

rs35576928

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281137C>A
NC_000016.10   g.11281137C>G
NC_000016.9   g.11374994C>A
NC_000016.9   g.11374994C>G
NM_002761.3   c.102G>T
NM_002761.3   c.102G>C
NM_002761.2   c.102G>T
NM_002761.2   c.102G>C
NP_002752.1   p.Arg34Ser
NP_002752.1   p.Arg34Ser|SEQ=[C/A/G]|GE

rs2301365

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281429G>T
NC_000016.9   g.11375286G>T|SEQ=[G/T]|GENE=PRM1
LOC105371082   105371082

rs2070923

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11275998G>C
NC_000016.10   g.11275998G>T
NC_000016.9   g.11369855G>C
NC_000016.9   g.11369855G>T|SEQ=[G/C/T]|GENE=PRM2
LOC105371082   105371082

rs1646022

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11276073C>G
NC_000016.10   g.11276073C>T
NC_000016.9   g.11369930C>G
NC_000016.9   g.11369930C>T
NM_001286359.1   c.298G>C
NM_001286359.1   c.298G>A
NM_001286359.2   c.298G>C
NM_001286359.2   c.298G>A
NP_001273288.1   p.Ala100Pro
NP_001273288.1   p.Ala1

rs737008

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281009G>A
NC_000016.10   g.11281009G>T
NC_000016.9   g.11374866G>A
NC_000016.9   g.11374866G>T
NM_002761.3   c.139C>T
NM_002761.3   c.139C>A
NM_002761.2   c.139C>T
NM_002761.2   c.139C>A
NP_002752.1   p.Arg47Ter|SEQ=[G/A/T]|GENE=PRM1
LOC1053710  

Protein Summary

• Protein general information: P05155  
  • Name: Plasma protease C1 inhibitor (C1 Inh) (C1Inh) (C1 esterase inhibitor) (C1 inhibiting factor) (Serpin G1)
  • Length: 500  
  • Mass: 55154
• Sequence:

  MASRLTLLTLLLLLLAGDRASSNPNATSSSSQDPESLQDRGEGKVATTVISKMLFVEPILEVSSLPTTNSTTNSA
  TKITANTTDEPTTQPTTEPTTQPTIQPTQPTTQLPTDSPTQPTTGSFCPGPVTLCSDLESHSTEAVLGDALVDFS
  LKLYHAFSAMKKVETNMAFSPFSIASLLTQVLLGAGENTKTNLESILSYPKDFTCVHQALKGFTTKGVTSVSQIF
  HSPDLAIRDTFVNASRTLYSSSPRVLSNNSDANLELINTWVAKNTNNKISRLLDSLPSDTRLVLLNAIYLSAKWK
  TTFDPKKTRMEPFHFKNSVIKVPMMNSKKYPVAHFIDQTLKAKVGQLQLSHNLSLVILVPQNLKHRLEDMEQALS
  PSVFKAIMEKLEMSKFQPTLLTLPRIKVTTSQDMLSIMEKLEFFDFSYDLNLCGLTEDPDLQVSAMQHQTVLELT
  ETGVEAAAASAISVARTLLVFEVQQPFLFVLWDQQHKFPVFMGRVYDPRA

• Structural information:
  • Interpro: IPR015553  IPR023795  IPR023796  IPR000215  IPR036186   IPR042178  IPR042185  
  • Prosite: PS00284
  • PDB: 1M6Q 2OAY 5DU3 5DUQ
  • PDBsum: 1M6Q 2OAY 5DU3 5DUQ
  • DIP: 45635
  • STRING: ENSP00000278407
• Other Databases: GeneCards:  SERPING1  Malacards:  SERPING1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	IBA	cellular component
GO:0010951	negative regulation of endopeptidase activity	IBA	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IBA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	IDA	molecular function
GO:0001869	negative regulation of complement activation, lectin pathway	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0045916	negative regulation of complement activation	IEA	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0030193	regulation of blood coagulation	IEA	biological process
GO:0007596	blood coagulation	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0007599	hemostasis	IEA	biological process
GO:0042730	fibrinolysis	IEA	biological process
GO:0006958	complement activation, classical pathway	IEA	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0008015	blood circulation	TAS	biological process
GO:0008015	blood circulation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0002576	platelet degranulation	TAS	biological process
GO:0007597	blood coagulation, intrinsic pathway	TAS	biological process
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0030449	regulation of complement activation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0007568	aging	IEA	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0072562	blood microparticle	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005576	extracellular region	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04610	Complement and coagulation cascades
hsa05133	Pertussis

Diseases

Associated diseases	References
Complement regulatory protein defects	KEGG:H00106
Hereditary angioedema	KEGG:H01006
Complement regulatory protein defects	KEGG:H00106
Hereditary angioedema	KEGG:H01006
Hereditary angioedema	PMID:15356570
Angioedema	PMID:12402344
Cerebral infarction	PMID:10446335
Macular degeneration	PMID:21852020
macular degeneration	PMID:20576771
autosomal dominant polycystic kidney disease	PMID:24494798
Acute myocardial infarction	PMID:26476955
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R