C1S - complement C1s Gene

Also Known as EDSPD2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 716

About C1S

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:7,060,718-7,071,032 (from NCBI)

This gene has 23 transcripts (splice variants), 187 orthologues, 16 paralogues and is associated with 4 phenotypes. Broad expression in liver (RPKM 683.7), gall bladder (RPKM 363.8) and 18 other tissues.

Summary

This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two Other complement components C1r and C1q in order to yield the first component of the serum Complement System. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009]

C1S Products (3)

mRNA	Protein	Name
NM_001346850.2	NP_001333779.1	complement C1s subcomponent isoform 2
NM_001734.5	NP_001725.1	complement C1s subcomponent isoform 1 preproprotein
NM_201442.4	NP_958850.1	complement C1s subcomponent isoform 1 preproprotein

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	2387866	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	2387866	GOA
enables serine-type endopeptidase activity	IDA IDA: Inferred from direct assay	11527969	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

C1S Protein Structure

CUB

FXa_inhibition

CUB

Sushi

Trypsin

0
200
400
600
688 a.a.

Protein Preferred Names	Protein Names
complement C1s subcomponent	C1 esterase

C1S Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	C1S	P09871	SERPING1	Homo sapiens	P05155	Comigration in Gel	28742139
Intra	C1S	P09871	SERPING1	Homo sapiens	P05155	Protease Assay	25359215
Intra	C1S	P09871	SERPING1	Homo sapiens	P05155	Protease Assay	28742139
Intra	C1S	P09871	C1S	Homo sapiens	P09871	X-Ray Diffraction	12788922
Intra	C1S	P09871	C1R	Homo sapiens	P00736	Anti Tag CoIP	28514442
Intra	C1S	P09871	C1R	Homo sapiens	P00736	GMS	2387866
Intra	C1S	P09871	REEP4	Homo sapiens	Q9H6H4	Y2H Prey Pooling	32296183
Intra	C1S	P09871	C1S	Homo sapiens	P09871	GMS	2387866
Intra	C1S	P09871	REEP4	Homo sapiens	Q9H6H4	Validated Y2H	32296183
Intra	C1S	P09871	CREB3	Homo sapiens	O43889-2	Validated Y2H	25910212
Intra	C1S	P09871	CREB3	Homo sapiens	O43889-2	Y2H Bait-Prey Pool	25910212
Intra	C1S	P09871	REEP4	Homo sapiens	Q9H6H4	Y2H Array	32296183
Intra	C1S	P09871	C1R	Homo sapiens	P00736	Anti Tag CoIP	33961781
Intra	C1S	P09871	CREB3	Homo sapiens	O43889-2	Y2H Array	25910212
Intra	C1S	P09871	C2	Homo sapiens	P06681	Protease Assay	28742139
Intra	C1S	P09871	vag8	Bordetella pertussis	Q79GN7	Protease Assay	28742139

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant C1S Proteins

Cat. No.	Product Name	Accession	Purity
HY-P700696	C1s/Complement component C1s Protein, Human (HEK293, His)	P09871 (E16-D688)	≥ 90%, as determined by Bis-Tris PAGE.

Related Diseases

Diseases	Alias
Ehlers-Danlos Syndrome, Periodontal Type, 2	EDSPD2 Ehlers-Danlos Syndrome, Periodontal Type 2 Ehlers-Danlos Syndrome Periodontal Type 2
Complement Component C1s Deficiency	C1s Deficiency C1SD
Ehlers-Danlos Syndrome, Periodontal Type, 1	Ehlers-Danlos Syndrome, Type Viii EDSPD1 Eds8 Eds Viii Ehlers-Danlos Syndrome, Periodontitis Type Ehlers-Danlos Syndrome, Periodontosis Type Ehlers-Danlos Syndrome, Periodontal Type 1 Ehlers-Danlos Syndrome Periodontal Type 1
Periodontal Ehlers-Danlos Syndrome	Peds Eds Viii Ehlers-Danlos Syndrome Type 8 Ehlers-Danlos Syndrome, Periodontitis Type Ehlers-Danlos Syndrome, Type Viii Periodontal Eds Eds Type Viii Eds8 Ehlers-Danlos Syndrome, Periodontosis Type
Immunodeficiency Due To A Classical Component Pathway Complement Deficiency	Immunodeficiency Due To C1, C4, Or C2 Component Complement Deficiency Immunodeficiency Due To An Early Component Of Complement Deficiency
Hereditary Angioedema	Hereditary Angioneurotic Edema Hereditary Angioedema Type 1 Hane Angioedema, Hereditary Hae Angioedemas, Hereditary Deficiency Of C1 Esterase Inhibitor C1 Esterase Inhibitor Deficiency C1 Inhibitor Deficiency Familial Angioneurotic Edema Hereditary Bradykinine-Induced Angioedema Hereditary Non Histamine-Induced Angioedema Hae 1 Hae-I Hereditary Angioneurotic Edema Type 1 Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor Hereditary Angioedema Types I And Ii Hereditary Angioneurotic Oedema Familial Angioedema Hae - [Hereditary Angioneurotic Oedema] Bannister Disease, Hereditary Quincke Disease Or Oedema Hereditary Quincke Oedema
Angioedema	Angioneurotic Oedema Quincke'S Edema Angioneurotic Edema Giant Urticaria
Gingival Recession	Localized Gingival Recession Gingival Recession, Localized Minimal Gingival Recession Moderate Gingival Recession Severe Gingival Recession Gingival Recession, Minimal Gingival Recession, Severe Atrophy Of Gums Gum Atrophy Gingival Atrophy
Urticaria	Nettle Rash Hives Wheal Urticaria Nos
Capillary Leak Syndrome	Systemic Capillary Leak Syndrome Clarkson Disease Capillary Leak Syndrome With Monoclonal Gammopathy Scls Periodic Systemic Capillary Leak Syndrome Capillary Hyperpermeability Syndrome Idiopathic Capillary Leak Syndrome
Ehlers-Danlos Syndrome	Eds Cutis Hyperelastica Elastic Skin Ehlers-Danlos Syndromes Ed Syndrome Ehlers Danlos Syndrome Ehlers Danlos Disease Eds - [Ehlers-Danlos Syndrome]
Glomerulonephritis	Bright'S Disease
Spondylocostal Dysostosis 2, Autosomal Recessive	SCDO2 Spondylocostal Dysostosis, Autosomal Recessive 2 Spondylocostal Dysostosis 2 Autosomal Recessive Spondylocostal Dysostosis 2 Doid:0112362 Dysostosis, Spondylocostal, Autosomal Recessive, Type 2
Acquired Angioedema	Acquired C1 Inhibitor Deficiency Angioedema, Acquired Aae Acquired Angioneurotic Edema Acquired Bradykinine-Induced Angioedema Acquired Non Histamine-Induced Angioedema Acquired Angioneurotic Oedema Aae - [Acquired Angioneurotic Oedema]
Lupus Erythematosus	Lupus Lupus Vulgaris Lupus Erythematosus, Discoid Lupus Erythematosus, Systemic Subacute Cutaneous Lupus Le - [Lupus Erythematosus]
Laryngeal Small Cell Carcinoma	Small Cell Carcinoma Of Larynx
Systemic Lupus Erythematosus	Lupus Nephritis SLE Disseminated Lupus Erythematosus Systemic Lupus Erythematosus, Susceptibility To Lupus Erythematosus, Systemic Lupus Nephritis, Susceptibility To Libman-Sacks Disease Systemic Lupus Erythematosus Susceptibility To Sle - Lupus Erythematosus, Systemic Le Syndrome Lupus Lupus Erythematosus Systemic Lupus Erythematosus, Systemic, Susceptibility To Lupus Vulgaris Lupus Erythematosus, Discoid Lupus Erythematosus Systemic Lupus Erythematosus Nos Sle - [Systemic Lupus Erythematosus]
Vasculitis	Angiitis Autoimmune Vasculitis Systemic Vasculitis Vasculitis, Autoimmune
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome Haemolytic-Uraemic Syndrome Hus Acute Renal Failure, Thrombocytopenia, And Microangiopathic Hemolytic Anemia Associated With Distorted Erythrocytes Typical Haemolytic Uraemic Syndrome Gasser Syndrome Hus - [Haemolytic Uraemic Syndrome]
C1 Inhibitor Deficiency	Quincke Edema Angioedemas, Hereditary Angioedema
Angioedema, Hereditary, 1	Hereditary Angioedema Type I Hereditary Angioneurotic Edema Hane C1 Esterase Inhibitor Deficiency Angioedema, Hereditary, 1 And 2 HAE1 Angioneurotic Edema, Hereditary Angioedema, Hereditary, Type I Hereditary Angioedema Type 2 Hae 2 Hae-Ii Hereditary Angioneurotic Edema Type 2 Angioedema, Hereditary HAE Angioedema, Hereditary, Types I And Ii Hereditary Angioedema, Type Ii Angioedema, Hereditary, Type 1 Angioedemas, Hereditary Hereditary C1 Esterase Inhibitor Deficiency - Dysfunctional Factor Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor Hereditary Angioedema Types I And Ii
Complement Component 3 Deficiency	C3 Deficiency
Angioedema, Hereditary, 3	Angioedema, Hereditary, Type Iii Hereditary Angioedema Type Iii Hereditary Angioedema Type 3 HAE3 Estrogen-Related Hae Estrogen-Sensitive Hae Angioneurotic Edema, Hereditary, With Normal C1 Inhibitor Concentration And Function Hae With Normal C1 Inhibitor Concentration And Function Hereditary Angioedema With Normal C1 Inhibitor Activity F12-Related Hereditary Angioedema With Normal C1inh F12-Related Hae With Normal C1 Inhibitor Hae 3 Hae-Iii Hereditary Angioneurotic Edema Type 3 Inherited Estrogen-Associated Angioedema Inherited Estrogen-Associated Angioneurotic Edema Inherited Estrogen-Dependent Angioedema Inherited Estrogen-Dependent Angioneurotic Edema Angioneurotic Edema Hereditary With Normal C1 Inhibitor Concentration And Function Hereditary Angioedema With Normal C1 Esterase Inhibitor Activity
Complement Deficiency	Complement Deficiency Disease Hereditary Complement Deficiency Diseases
Vulvar Angiokeratoma	Fordyce Angiokeratoma Of Vulva Angiokeratoma Of Vulva
Louse-Borne Relapsing Fever	Relapsing Fever, Louse-Borne Relapsing Fever Due To Borrelia Recurrentis
3mc Syndrome	Craniofacial-Ulnar-Renal Syndrome Malpuech Facial Clefting Syndrome Oculopalatoskeletal Syndrome Carnevale Syndrome Michels Syndrome Malpuech-Michels-Mingarelli-Carnevale Syndrome Carnevale-Krajewska-Fischetto Syndrome Craniosynostosis With Lid Anomalies Malpuech Syndrome Mingarelli Syndrome Oculo-Skeletal-Abdominal Syndrome Osa Syndrome Ptosis Of Eyelids With Diastasis Recti And Hip Dysplasia Ptosis-Strabismus-Rectus Abdominis Diastasis
Transposition Of The Great Arteries, Dextro-Looped	Transposition Of The Great Arteries DTGA1 Dextro-Looped Transposition Of The Great Arteries DTGA Congenitally Uncorrected Transposition Of The Great Arteries Congenitally Uncorrected Transposition Of The Great Vessels D-Tga Isolated Ventriculoarterial Discordance Ventriculoarterial Discordance With Atrioventricular Concordance Dextro-Transposition Of The Great Arteries Transposition Of The Great Vessels Great Vessels Transposition Transposition Of The Great Arteries, Dextro-Looped 1 Arteries, Great, Transposition, Dextro-Looped Ventriculoarterial Discordance, Isolated D-Transposition Of The Great Arteries Complete Transposition Tga Tgv Transposition Of Great Vessels Transposition Of The Great Arteries Dextro-Looped 1 Dextro-Looped Transposition Of The Great Arteries 1 Discordant Ventriculoarterial Connection Complete Transposition Of Great Vessels Great Vessels Complete Transposition Total Great Vessel Transposition Transposition Of Great Arteries Complete Tga - [Transposition Of The Great Arteries] Tga - [Transposition Of Great Arteries] Tgv - [Transposition Of Great Vessels] Transposition Of Great Vessels Nos Transposed Vessels Nos
Macroglossia	Congenital Macroglossia Enlarged Tongue Giant Tongue Acquired Macroglossia Nos Congenital Hypertrophy Of Tongue
Complement Component 5 Deficiency	C5 Deficiency C5D
Anemia, Autoimmune Hemolytic	Autoimmune Hemolytic Anemia Idiopathic Autoimmune Hemolytic Anemia Immuno-Hemolytic Anemia Anemia, Hemolytic, Autoimmune Autoimmune Haemolytic Anaemia Autoimmune Hemolytic Anaemia Acquired Autoimmune Hemolytic Anemia Anemia Hemolytic Autoimmune Familial Auto-Immune Hemolytic Anemia Aha Aiha
Meningococcal Meningitis	Meningitis, Meningococcal Meningitis Meningococcal Epidemic Meningitis Meningitis Due To Neisseria Meningitidis Meningococcal Meninges Infection Meningococcal Meningeal Infection Meningococcal Cerebrospinal Inflammation Chronic Meningococcal Arachnoiditis Meningococcal Arachnoiditis Diplococcal Spinal Meningitis Diplococcal Meningitis Meningococcal Cerebrospinal Fever Meningococcal Cerebrospinal Infection Meningococcal Spinal Meningitis
Hemolytic Uremic Syndrome, Atypical 1	Atypical Hemolytic-Uremic Syndrome Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 Atypical Hemolytic Uremic Syndrome Hemolytic Uremic Syndrome, Atypical, Susceptibility To Ahus AHUS1 Hemolytic-Uremic Syndrome Ahus 1 Ahus, Susceptibility To, 1 Hemolytic Uremic Syndrome, Atypical Non-Shiga-Like Toxin-Associated Hus Non-Stx-Hus Nonenteropathic Hus Atypical Hus Shiga Toxin-Associated Hemolytic Uremic Syndrome D+ Hus Ehec-Hus Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli Hemolytic Uremic Syndrome With Diarrhea Stec-Hus Shiga-Like Toxin-Associated Hus Stx-Hus Typical Hus Typical Hemolytic Uremic Syndrome Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies Atypical Hus With Anti-Factor H Antibodies Ahus With Anti-Factor H Antibodies Ahus With Neutralizing Autoantibodies Against Factor H Hemolytic Uremic Syndrome Atypical 1 Atypical Hemolytic Uremic Syndrome With H Factor Anomaly D Hus Hemolytic-Uremic Syndrome Without Diarrhea Hemolytic-Uremic Syndrome, Atypical, Type 1 Hemolytic Uremic Syndrome, Typical
Membranoproliferative Glomerulonephritis	Mesangiocapillary Glomerulonephritis Dense Deposit Disease Membranoproliferative Glomerulonephritis Type 2 Primary Membranoproliferative Glomerulonephritis Mesangiocapillary Glomerulonephritis, Type Ii Glomerulonephritis, Membranoproliferative Chronic Glomerulonephritis, Lobular Lobular Glomerulonephritis Ddd Glomerulonephritis Membranoproliferative Type 2 Mpgn 2 Membranoproliferative Glomerulonephritis Type Ii Mesangiocapillary Glomerulonephritis Type 2 Mpgn Primary Mpgn Glomerulonephritis Membranoproliferative Membranoproliferative Glomerulonephritis, Type Ii
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
Myocardial Infarction	Heart Attack Myocardial Infarction, Susceptibility To Myocardial Infarction 1 Myocardial Infarction, Protection Against Myocardial Infarction, Decreased Susceptibility To Myocardial Infarction, Decreased Myocardial Infarct MCI1 Premature Myocardial Infarction Myocardial Infarction, Susceptibility To, Type 1
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Clinical Phase
Pre-clinical Phase

Approval

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P99050	Sutimlimab	Inhibitor	98.81%	Unkown

Clinical Phase

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P990091	Riliprubart	Inhibitor	99.90%	Phase 3

Pre-clinical Phase

Bioactive Molecules (17)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-50875	BCX 1470 methanesulfonate	Inhibitor	99.87%	Unkown
HY-W371165	C1s-IN-1 trihydrochloride	Inhibitor	99.73%	Unkown
HY-P10827	PIC1 PA	Inhibitor	98.37%	Unkown
HY-149278	Complement C1s-IN-1	Inhibitor	97.77%	Unkown
HY-158469	Disialylated Core 1 O-glycan (C1S(3,6)2), 2-AB labelled		98.91%	Unkown
HY-15191B	(S)-Sabutoclax	Inhibitor	98.03%	Unkown
HY-50874	BCX 1470	Inhibitor	/	Unkown
HY-158468	Sialylated Core 1 O-glycan (C1S(3)1), 2AB labelled		/	Unkown
HY-158472	Sialylated Core 1 O-glycan (C1S(3)1)		/	Unkown
HY-E70390	C1s Enzyme	Antagonist	/	Unkown
HY-E70534	C1s Proenzyme		/	Unkown
HY-N0215S16	L-Phenylalanine-13C-1		/	Unkown
HY-RS01737	C1S Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W371164	C1s-IN-1	Inhibitor	/	Unkown
HY-149690	O-Phthalimide-C1-S-C1-acid		/	Unkown
HY-149691	O-Phthalimide-C1-S-C5-acid		/	Unkown
HY-RS24256	C1s Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P991127	Claseprubart	Inhibitor	99%	Unkown
HY-P991629	C1 Esterase Inhibitor (Human)	Inhibitor	95.00%	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	C1S	VGNC	VGNC:60225
Bos taurus	C1S	VGNC	VGNC:26630
Macaca mulatta	C1S	VGNC	VGNC:70297
Rattus norvegicus	C1S	RGD	RGD:619983
Canis familiaris	C1S	VGNC	VGNC:38588
Others	C1S	NCBI