1. Gene
  2. C1S - complement C1s Gene

C1S - complement C1s Gene

Homo sapiens

Also known as EDSPD2

Gene ID: 716 | Gene type: protein coding

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

C1S Protein Structure

CUB

CUB: CUB domain (19 - 127)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (142 - 171)

CUB

CUB: CUB domain (175 - 287)

Sushi

Sushi: Sushi repeat (SCR repeat) (298 - 354)

Sushi

Sushi: Sushi repeat (SCR repeat) (359 - 413)

Trypsin

Trypsin: Trypsin (438 - 675)

  • 0
  • 200
  • 400
  • 600
  • 688 a.a.
Protein Preferred Names Protein Names

complement C1s subcomponent

C1 esterase

Recombinant C1S Proteins

Cat. No. Product Name Accession Purity
HY-P700696 C1s/Complement component C1s Protein, Human (HEK293, His) P09871 (E16-D688) ≥95%

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

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
Mus musculus C1S NCBI
Others C1S NCBI