C1R - complement C1r Gene

Homo sapiens

Also known as EDSPD1

Gene ID: 715 | Gene type: protein coding

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

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01735	C1R Human Pre-designed siRNA Set A		/	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
Mus musculus	C1R	NCBI
Others	C1R	NCBI