C1R - complement C1r Gene

Also Known as EDSPD1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 715

About C1R

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:7,080,219-7,092,445 (from NCBI)

This gene has 16 transcripts (splice variants), 1 gene allele, 167 orthologues, 16 paralogues and is associated with 4 phenotypes. Broad expression in liver (RPKM 563.3), gall bladder (RPKM 285.8) and 20 other tissues.

Summary

This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the Complement System C1 complex. The Complement System acts as a mediator in the innate immune response by ultimately triggering phagocytosis, inflammation, and rupturing the Bacterial cell wall. Mutations in this gene are associated with Ehlers-Danlos Syndrome. [provided by RefSeq, Dec 2018]

C1R Products (2)

mRNA	Protein	Name
NM_001354346.2	NP_001341275.1	complement C1r subcomponent isoform 2 preproprotein
NM_001733.7	NP_001724.4	complement C1r subcomponent isoform 1 preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables calcium ion binding	IDA IDA: Inferred from direct assay	20178990	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	20970424	GOA
enables molecular sequestering activity	EXP EXP: Inferred from Experiment	20178990	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	2387866	GOA
enables serine-type endopeptidase activity	EXP EXP: Inferred from Experiment	11823416	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in zymogen activation	IDA IDA: Inferred from direct assay	20178990	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in extracellular space	IDA IDA: Inferred from direct assay	20178990	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

C1R Protein Structure

CUB

FXa_inhibition

CUB

Sushi

Trypsin

0
100
200
300
400
500
600
653 a.a.

Protein Preferred Names	Protein Names
complement C1r subcomponent	complement component 1, r subcomponent

C1R Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	C1R	P00736	SERPING1	Homo sapiens	P05155	Comigration in Gel	28742139
Intra	C1R	P00736	C1S	Homo sapiens	P09871	Protease Assay	17996945
Intra	C1R	P00736	C1S	Homo sapiens	P09871	GMS	31749804
Intra	C1R	P00736	C1S	Homo sapiens	P09871	Equilib. Dialysis	2387866
Intra	C1R	P00736	C1S	Homo sapiens	P09871	SPR	12788922
Intra	C1R	P00736	C1R	Homo sapiens	P00736	NMR	20970424
Intra	C1R	P00736	BIRC2	Homo sapiens	Q13490	Anti Tag CoIP	33961781
Intra	C1R	P00736	BIRC2	Homo sapiens	Q13490	Anti Tag CoIP	28514442
Intra	C1R	P00736	C1RL	Homo sapiens	Q9NZP8	Anti Tag CoIP	33961781
Intra	C1R	P00736	C1RL	Homo sapiens	Q9NZP8	Anti Tag CoIP	28514442
Intra	C1R	P00736	C1R	Homo sapiens	P00736	GMS	31749804
Intra	C1R	P00736	vag8	Bordetella pertussis	Q79GN7	Comigration in Gel	28742139

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
Systemic Lupus Erythematosus 16	SLEB16 Autosomal Systemic Lupus Erythematosus Autosomal Sle Familial Sle Familial Systemic Lupus Erythematosus Lupus Erythematosus, Systemic, Type 16
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
Ehlers-Danlos Syndrome	Eds Cutis Hyperelastica Elastic Skin Ehlers-Danlos Syndromes Ed Syndrome Ehlers Danlos Syndrome Ehlers Danlos Disease Eds - [Ehlers-Danlos Syndrome]
Ehlers-Danlos Syndrome, Periodontal Type, 2	EDSPD2 Ehlers-Danlos Syndrome, Periodontal Type 2 Ehlers-Danlos Syndrome Periodontal Type 2
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
Angioedema	Angioneurotic Oedema Quincke'S Edema Angioneurotic Edema Giant Urticaria
Complement Component 3 Deficiency	C3 Deficiency
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]
C1 Inhibitor Deficiency	Quincke Edema Angioedemas, Hereditary Angioedema
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
Louse-Borne Relapsing Fever	Relapsing Fever, Louse-Borne Relapsing Fever Due To Borrelia Recurrentis
Complement Deficiency	Complement Deficiency Disease Hereditary Complement Deficiency Diseases
Complement Component 5 Deficiency	C5 Deficiency C5D
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
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
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]
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
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
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
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

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P10827	PIC1 PA	Inhibitor	98.37%	Unkown
HY-E70391	C1r Enzyme		/	Unkown
HY-E70533	C1r Proenzyme		/	Unkown
HY-E70534	C1s Proenzyme		/	Unkown
HY-RS01735	C1R Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-120765	BRD2879	Inhibitor	/	Unkown
HY-RS24803	C1r Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

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

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	C1R	VGNC	VGNC:108328
Bos taurus	C1R	VGNC	VGNC:56194
Canis familiaris	C1R	VGNC	VGNC:38586
Rattus norvegicus	C1R	RGD	RGD:1309091
Others	C1R	NCBI