1. Gene
  2. KLKB1 - kallikrein B1 Gene

KLKB1 - kallikrein B1 Gene

中文名称:激肽释放酶 B1

种属: Homo sapiens

同用名: PKK; PPK; KLK3; PKKD

基因 ID: 3818 | 基因类型: protein coding

关于 KLKB1

Cytogenetic location: 4q35.2 Genomic coordinates (GRCh38): 4:186,210,853-186,258,471 (from NCBI)

This gene has 6 transcripts (splice variants), 209 orthologues, 16 paralogues and is associated with 2 phenotypes. Biased expression in liver (RPKM 44.5) and kidney (RPKM 1.2).

功能概要

该基因编码一种糖蛋白,参与血液凝固、纤维蛋白溶解、激肽生成和炎症的表面依赖性激活。编码的前原蛋白作为具有高分子量激肽原的非共价复合物存在于血浆中,经过由活化的凝血因子 XII 介导的蛋白水解加工,产生由重链和轻链组成的二硫键连接的异二聚丝氨酸蛋白酶。该基因的某些突变会导致前激肽释放酶缺乏症。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2016 年 1 月]

This gene encodes a glycoprotein that participates in the surface-dependent activation of blood coagulation, fibrinolysis, kinin generation and inflammation. The encoded preproprotein present in plasma as a non-covalent complex with high molecular weight kininogen undergoes proteolytic processing mediated by activated coagulation factor XII to generate a disulfide-linked, heterodimeric serine protease comprised of heavy and light chains. Certain mutations in this gene cause prekallikrein deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

KLKB1 基因产物(3)

mRNA Protein Name
NM_000892.5 NP_000883.2 plasma kallikrein isoform 1 preproprotein
NM_001318394.2 NP_001305323.1 plasma kallikrein isoform 2
NM_001318396.2 NP_001305325.1 plasma kallikrein isoform 3 precursor
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 protein binding IPI
IPI: 通过物理相互作用推断
2844223 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in plasminogen activation IDA
IDA: 通过直接分析推断
89876 GOA
involved in positive regulation of fibrinolysis IDA
IDA: 通过直接分析推断
89876 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
89876 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

KLKB1 蛋白结构

PAN_1

PAN_1: PAN domain (23 - 104)

PAN_1

PAN_1: PAN domain (111 - 191)

PAN_1

PAN_1: PAN domain (201 - 284)

PAN_1

PAN_1: PAN domain (292 - 372)

Trypsin

Trypsin: Trypsin (391 - 621)

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

plasma kallikrein

kallikrein B, plasma (Fletcher factor) 1

KLKB1 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
KLKB1 P03952 TMEM185A Homo sapiens Q8NFB2 32814053
种属内
KLKB1 P03952 TMEM185A Homo sapiens Q8NFB2 32814053
种属内
KLKB1 P03952 TMEM185A Homo sapiens Q8NFB2 32814053
种属内
KLKB1 P03952 NPHP1 Homo sapiens C9J082 32814053
种属内
KLKB1 P03952 NPHP1 Homo sapiens C9J082 32814053
种属内
KLKB1 P03952 NPHP1 Homo sapiens C9J082 32814053
种属内
KLKB1 P03952 TGOLN2 Homo sapiens O43493-5 32814053
种属内
KLKB1 P03952 TGOLN2 Homo sapiens O43493-5 32814053
种属内
KLKB1 P03952 TGOLN2 Homo sapiens O43493-5 32814053
种属内
KLKB1 P03952 SLFN12 Homo sapiens Q8IYM2 32814053
种属内
KLKB1 P03952 SLFN12 Homo sapiens Q8IYM2 32814053
种属内
KLKB1 P03952 SLFN12 Homo sapiens Q8IYM2 32814053
种属内
KLKB1 P03952 PRMT5 Homo sapiens O14744 32814053
种属内
KLKB1 P03952 PRMT5 Homo sapiens O14744 32814053
种属内
KLKB1 P03952 PRMT5 Homo sapiens O14744 32814053
种属内
KLKB1 P03952 NME4 Homo sapiens O00746 32814053
种属内
KLKB1 P03952 NME4 Homo sapiens O00746 32814053
种属内
KLKB1 P03952 NME4 Homo sapiens O00746 32814053
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 KLKB1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70249 Plasma kallikrein/KLKB1 Protein, Human (HEK293, His, solution) P03952 (G20-A638) ≥95%

KLKB1 抗体

目录号 产品名 应用 反应物种
HY-P83618 Plasma Kallikrein Antibody (YA3363) WB, IHC-P, IP Human, Rat

关联疾病

疾病名称 别名
Prekallikrein Deficiency

Fletcher Factor Deficiency

PKK DEFICIENCY

Fletcher Factor Deficiency

Congenital Prekallikrein Deficiency

PKKD

Fletcher Trait

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

High Molecular Weight Kininogen Deficiency

HMWK DEFICIENCY

Fitzgerald Trait

Congenital High-Molecular-Weight Kininogen Deficiency

Flaujeac Factor Deficiency

Kininogen Deficiency, High Molecular Weight

Kininogen Deficiency

Hmwk

High-Molecular-Weight Kininogen Deficiency, Congenital

Renal Hypertension

Hypertension Renal

Hypertension, Renal

C1 Inhibitor Deficiency

Quincke Edema

Angioedemas, Hereditary

Angioedema

Pyruvate Kinase Deficiency Of Red Cells

Pyruvate Kinase Deficiency

Pk Deficiency

Pyruvate Kinase Deficiency Of Erythrocyte

Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency

Pyruvate Kinase Deficiency Of Erythrocytes

Pkd

PKRD

Hereditary Non-Spherocytic Hemolytic Anemia Due To Pyruvate Kinase Deficiency

Hnsha

Pyruvate Kinase-Deficient Hemolytic Anemia

Red Cell Pyruvate Kinase Deficiency

Deficiency Of Pyruvate Kinase

Anemia, Hemolytic, Congenital Nonspherocytic

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]

Congenital Nonspherocytic Hemolytic Anemia

Hereditary Non-Spherocytic Hemolytic Anemia

Hereditary Nonspherocytic Hemolytic Anemia

Anemia, Hemolytic, Congenital Nonspherocytic

Congenital Nonspherocytic Hemolytic Anaemia

Hereditary Nonspherocytic Hemolytic Anaemia

Hnsha

Liver Cirrhosis

Cirrhosis

Cirrhosis Of Liver

CIRRH

Cryptogenic Cirrhosis

Cirrhosis, Cryptogenic

Cirrhosis Nos

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

Factor Xii Deficiency

Hageman Factor Deficiency

Haf Deficiency

Factor Xii Deficiency Disease

F12 Deficiency

Deficiency, Hageman

Coagulation Factor 12 Deficiency

Factor 12 Deficiency

Congenital Factor Xii Deficiency

Congenital Hageman Factor Deficiency

FA12D

Factor Xii

Deficiency, Factor Xii

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Microvascular Complications Of Diabetes 5

Diabetic Retinopathy

Microvascular Complications Of Diabetes, Susceptibility To, 5

MVCD5

Retinopathy, Diabetic

Diabetic Nephropathy

Retinopathy, Diabetic, Susceptibility To

Retinal Abnormality - Diabetes-Related

Diabetic Macular Edema
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
Macaca mulatta KLKB1 VGNC VGNC:74195
Rattus norvegicus KLKB1 RGD RGD:67382
Bos taurus KLKB1 VGNC VGNC:30683
Felis catus KLKB1 VGNC VGNC:67969
Canis familiaris KLKB1 VGNC VGNC:42484
Mus musculus KLKB1 MGD MGI:102849
Macaca fascicularis KLKB1 NCBI NCBI:102142369
Others KLKB1 NCBI