1. Gene
  2. SERPING1 - serpin family G member 1 Gene

SERPING1 - serpin family G member 1 Gene

中文名称:serpin 家族 G 成员 1

种属: Homo sapiens

同用名: C1IN; C1NH; HAE1; HAE2; C1INH

基因 ID: 710 | 基因类型: protein coding

关于 SERPING1

Cytogenetic location: 11q12.1 Genomic coordinates (GRCh38): 11:57,597,685-57,614,848 (from NCBI)

This gene has 22 transcripts (splice variants), 191 orthologues, 36 paralogues and is associated with 4 phenotypes. Broad expression in liver (RPKM 710.5), gall bladder (RPKM 322.8) and 17 other tissues.

功能概要

该基因编码参与补体级联调节的高度糖基化血浆蛋白。其编码的蛋白质 C1 抑制剂抑制激活的第一补体成分的 C1r 和 C1s,从而调节补体激活。它在肝脏中合成,其缺乏与遗传性血管神经性水肿 (HANE) 相关。可变剪接导致编码相同异构体的多个转录变体。[RefSeq 提供,2020 年 5 月]

This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its encoded protein, C1 inhibitor, inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. It is synthesized in the liver, and its deficiency is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq, May 2020]

SERPING1 基因产物(2)

mRNA Protein Name
NM_000062.3 NP_000053.2 plasma protease C1 inhibitor precursor
NM_001032295.2 NP_001027466.1 plasma protease C1 inhibitor precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
10570951 GOA
enables serine-type endopeptidase inhibitor activity IDA
IDA: 通过直接分析推断
11527969 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of complement activation, lectin pathway IDA
IDA: 通过直接分析推断
10946292 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

SERPING1 蛋白结构

Serpin

Serpin: Serpin (serine protease inhibitor) (145 - 498)

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

plasma protease C1 inhibitor

C1 esterase inhibitor

重组 SERPING1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P73526 Serpin G1 Protein, Human (500a.a, HEK293, His) P05155/NP_000053.2 (N23-A500) ≥95%

关联疾病

疾病名称 别名
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

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

Complement Component 4, Partial Deficiency Of

Angioedemas, Hereditary

C1 Inhibitor Deficiency

Quincke Edema

Angioedemas, Hereditary

Angioedema

Hereditary Angioedema With C1inh Deficiency

Hae With C1 Inhibitor Deficiency

Hae With C1inh Deficiency

Hereditary Angioneurotic Edema With C1 Inhibitor Deficiency

Hereditary Angioneurotic Edema With C1inh Deficiency

Angioedema

Angioneurotic Oedema

Quincke'S Edema

Angioneurotic Edema

Giant Urticaria

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]

Laryngeal Small Cell Carcinoma

Small Cell Carcinoma Of Larynx

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

Physical Urticaria

Symptomatic Dermographism

Cholinergic Urticaria
Covid-19

2019 Novel Coronavirus

2019-Ncov Infection

Covid19

Sars-Cov-2 Infection

Wuhan Coronavirus Infection

Wuhan Seafood Market Pneumonia Virus Infection

Louse-Borne Relapsing Fever

Relapsing Fever, Louse-Borne

Relapsing Fever Due To Borrelia Recurrentis

Melkersson-Rosenthal Syndrome

Melkersson Syndrome

Mros

Mrs

Cheilitis Granulomatosa Of Mescher-Melkersson-Rosenthal

Melkersson'S Syndrome

Cheilitis Granulomatosa

Granulomatous Cheilitis

Dermatographia

Dermatographic Urticaria

Dermographism

Symptomatic Dermographism

Urticaria Factitia

Factitious Urticaria

Dermatographism

Urticaria

Nettle Rash

Hives

Wheal

Urticaria Nos

Complement Deficiency

Complement Deficiency Disease

Hereditary Complement Deficiency Diseases

Fissured Tongue

Furrowed Tongue

Plicated Tongue

Tongue, Fissured

Congenital Fissure Of Tongue

Congenital Plicated Tongue

Fissure Of Tongue

Fissure Of Tongue, Congenital

Geographic Tongue And Fissured Tongue

Lingua Plicata

Scrotal Tongue

Epiglottitis

Acute Epiglottitis

Acute Epiglottitis And Supraglottitis

Acute Epiglottiditis

Epiglottiditis

Epiglottitis Nos

Allergic Urticaria
Blepharochalasis

Dermatolysis Palpebrarum

Adiposa Ptosis

Tick-Borne Relapsing Fever

Relapsing Fever, Tick-Borne

Relapsing Fever Due To Any Borrelia Species Other Than Borrelia Recurrentis

African Tick-Borne Fever

Chronic Inducible Urticaria
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

Chronic Spontaneous Urticaria

Chronic Idiopathic Urticaria

Integumentary System Disease
Capillary Disease

Disease Of Capillaries

Cecal Disease

Cecal Diseases

Disorder Of Cecum

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

Alpha-2-Plasmin Inhibitor Deficiency

Plasmin Inhibitor Deficiency

Antiplasmin Deficiency

Antiplasmin Defiency

Anti-Plasmin Deficiency, Congenital

Antiplasmin Deficiency, Congenital

Congenital Alpha2-Antiplasmin Deficiency

APLID

Congenital Alpha2 Antiplasmin Deficiency

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

Skin Disease

Skin Diseases

Genodermatosis

Abnormality Of The Skin

Skin Diseases, Genetic

Skin And Subcutaneous Tissue Disease

Dermatologic Disorders

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
Mus musculus SERPING1 MGD MGI:894696
Felis catus SERPING1 VGNC VGNC:65029
Bos taurus SERPING1 VGNC VGNC:54891
Rattus norvegicus SERPING1 RGD RGD:735225
Macaca mulatta SERPING1 VGNC VGNC:77223
Canis familiaris SERPING1 VGNC VGNC:52042
Others SERPING1 NCBI