1. Gene
  2. C1R - complement C1r Gene

C1R - complement C1r Gene

中文名称:补体 C1r

种属: Homo sapiens

同用名: EDSPD1

基因 ID: 715 | 基因类型: protein coding

关于 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.

功能概要

该基因编码肽酶 S1 蛋白家族的一个成员。编码的蛋白质是补体系统 C1 复合体中的蛋白水解亚基。补体系统通过最终触发吞噬作用、炎症和细菌细胞壁破裂,充当先天免疫反应的中介。该基因的突变与 Ehlers-Danlos 综合症有关。[RefSeq 提供,2018 年 12 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables calcium ion binding IDA
IDA: 通过直接分析推断
20178990 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
20970424 GOA
enables molecular sequestering activity EXP
EXP: 通过实验结果推断
20178990 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
2387866 GOA
enables serine-type endopeptidase activity EXP
EXP: 通过实验结果推断
11823416 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in zymogen activation IDA
IDA: 通过直接分析推断
20178990 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular space IDA
IDA: 通过直接分析推断
20178990 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

C1R 蛋白结构

CUB

CUB: CUB domain (25 - 125)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (159 - 188)

CUB

CUB: CUB domain (192 - 301)

Sushi

Sushi: Sushi repeat (SCR repeat) (308 - 386)

Trypsin

Trypsin: Trypsin (412 - 645)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 653 a.a.
蛋白主名 其他名称

complement C1r subcomponent

complement component 1, r subcomponent

C1R 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
C1R P00736 SERPING1 Homo sapiens P05155
Comigration in Gel
28742139
种属内
C1R P00736 C1S Homo sapiens P09871
Protease Assay
17996945
种属内
C1R P00736 C1S Homo sapiens P09871
GMS
31749804
种属内
C1R P00736 C1S Homo sapiens P09871
Equilib. Dialysis
2387866
种属内
C1R P00736 C1S Homo sapiens P09871
SPR
12788922
种属内
C1R P00736 C1R Homo sapiens P00736
NMR
20970424
种属内
C1R P00736 BIRC2 Homo sapiens Q13490
Anti Tag CoIP
33961781
种属内
C1R P00736 BIRC2 Homo sapiens Q13490
Anti Tag CoIP
28514442
种属内
C1R P00736 C1RL Homo sapiens Q9NZP8
Anti Tag CoIP
33961781
种属内
C1R P00736 C1RL Homo sapiens Q9NZP8
Anti Tag CoIP
28514442
种属内
C1R P00736 C1R Homo sapiens P00736
GMS
31749804
种属内
C1R P00736 vag8 Bordetella pertussis Q79GN7
Comigration in Gel
28742139
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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