MASP1 - MBL associated serine protease 1 Gene

中文名称：MBL 相关丝氨酸蛋白酶 1

种属: Homo sapiens

同用名: 3MC1; MAP1; MASP; RaRF; CRARF; MAP-1; MASP3; MAp44; PRSS5; CRARF1; MASP-3

基因 ID: 5648 | 基因类型: protein coding

关于 MASP1

Cytogenetic location: 3q27.3 Genomic coordinates (GRCh38): 3:187,217,282-187,291,737 (from NCBI)

This gene has 15 transcripts (splice variants), 208 orthologues, 2 paralogues and is associated with 3 phenotypes. Biased expression in liver (RPKM 20.5), endometrium (RPKM 13.2) and 10 other tissues.

功能概要

该基因编码一种丝氨酸蛋白酶，作为补体激活的凝集素途径的一个组成部分。补体途径在先天性和适应性免疫反应中起着至关重要的作用。编码的蛋白质被合成为酶原，当它与凝集素途径的病原体识别分子、甘露糖结合凝集素和纤维胶蛋白复合时被激活。该蛋白不直接参与补体激活，但可能通过切割补体 C2 或通过激活另一种补体丝氨酸蛋白酶 MASP-2 发挥补体激活放大器的作用。编码的蛋白质还能够切割纤维蛋白原和因子 XIII，并可能参与凝血。该基因的剪接变体缺少丝氨酸蛋白酶结构域，可作为补体途径的抑制剂发挥作用。交替剪接导致多个转录变体。[RefSeq 提供，2010 年 4 月]

This gene encodes a serine protease that functions as a component of the lectin pathway of complement activation. The complement pathway plays an essential role in the innate and adaptive immune response. The encoded protein is synthesized as a zymogen and is activated when it complexes with the pathogen recognition molecules of lectin pathway, the mannose-binding lectin and the ficolins. This protein is not directly involved in complement activation but may play a role as an amplifier of complement activation by cleaving complement C2 or by activating another complement serine protease, MASP-2. The encoded protein is also able to cleave fibrinogen and factor XIII and may may be involved in coagulation. A splice variant of this gene which lacks the serine protease domain functions as an inhibitor of the complement pathway. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]

MASP1 基因产物(3)

mRNA	Protein	Name
NM_001031849.3	NP_001027019.1	mannan-binding lectin serine protease 1 isoform 3 precursor
NM_001879.6	NP_001870.3	mannan-binding lectin serine protease 1 isoform 1 precursor
NM_139125.4	NP_624302.1	mannan-binding lectin serine protease 1 isoform 2 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 calcium ion binding	IDA IDA: 通过直接分析推断	18596036	GOA
enables calcium-dependent protein binding	IPI IPI: 通过物理相互作用推断	12421953	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	22854970	GOA
enables peptidase activity	IDA IDA: 通过直接分析推断	10946292	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	10946292	GOA
enables protein homodimerization activity	IPI IPI: 通过物理相互作用推断	18596036	GOA
enables serine-type endopeptidase 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 complement activation, lectin pathway	IMP IMP: 通过突变表型推断	17182967	GOA
involved in negative regulation of complement activation	IDA IDA: 通过直接分析推断	11485744	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	11485744	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

MASP1 蛋白结构

CUB

EGF_CA

CUB

Sushi

Trypsin

0
200
400
600
699 a.a.

蛋白主名

其他名称

mannan-binding lectin serine protease 1

C4/C2 activating component of Ra-reactive factor

MASP1 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	MASP1	P48740	MBL2	Homo sapiens	P11226	Comigration in SDS	22607836
种属内	MASP1	P48740	MBL2	Homo sapiens	P11226	ELISA	20956340
种属内	MASP1	P48740	MBL2	Homo sapiens	P11226	ELISA	22607836

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 MASP1 蛋白

目录号	产品名	蛋白编号	纯度
HY-P7444	MASP1 Protein, Human (HEK293, His)	P48740-2 (H20-R728)	≥95%

关联疾病

疾病名称

别名

3mc Syndrome 1

Oculopalatoskeletal Syndrome	3MC1
Craniosynostosis With Lid Anomalies	Michels Syndrome, Formerly
Michels Syndrome	3mc Syndrome, Type 1

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

Cleft Lip

Cheiloschisis	Labium Leporinum
Cleft Lip, Unilateral, Complete	Complete Unilateral Cleft Lip
Hare Lip	Congenital Fissure Of Lip
Isolated Cleft Lip	Cleft Lip Without Cleft Palate
Cleft Lip Without Cleft Palate, Unilateral	Isolated Cleft Lip, Unilateral
Cleft Lip Without Cleft Palate, Bilateral	Isolated Cleft Lip, Bilateral

Iga Glomerulonephritis

Iga Nephropathy	Glomerulonephritis, Iga
Berger'S Iga Or Igg Nephropathy	Focal Glomerulonephritis
Primary Iga Nephropathy	Segmental Glomerulonephritis
Berger Disease	Berger'S Disease
Igan	Nephritis, Iga Type
Nephropathy Iga	Glomerulonephritis Focal
Iga Nephropathy, Susceptibility To	Primary Immunoglobulin A Nephropathy

Blepharophimosis

Klebsiella Pneumonia

Pneumonia Due To Klebsiella Pneumoniae	Klebsiella Infections
Doid:13272	Klebsiella Lobar Pneumonia

Van Maldergem Syndrome 1

Cerebrofacioarticular Syndrome	VMLDS1
Van Maldergem Syndrome	Cerebro-Facio-Articular Syndrome
Van Maldergem Wetzburger Verloes Syndrome

Rapp-Hodgkin Syndrome

RHS	Anhidrotic Ectodermal Dysplasia With Cleft Lip/Palate
Ectodermal Dysplasia, Rapp-Hodgkin Type	Rapp-Hodgkin Ectodermal Dysplasia Syndrome
Ectodermal Dysplasia, Anhidrotic, With Cleft Lip/Palate	Ectodermal Dysplasia Syndrome, Rapp-Hodgkin Type
Edrh	Rapp-Hodgkin Ectodermal Dysplasia
Orofacial Cleft 8

Learning Disability

Learning Disabilities	Learning Disorders
Academic Skill Disorder	Learning Disorder

3mc Syndrome 2

3MC2	Ptosis Of Eyelids With Diastasis Recti And Hip Dysplasia
Oculo-Skeletal-Abdominal Syndrome	Osa Syndrome
Carnevale Syndrome	Carnevale Syndrome, Formerly
Carnevale Krajewska Fischetto Syndrome	3mc Syndrome, Type 2

Chagas Disease

American Trypanosomiasis	Chagas' Disease
Chagas' Disease With Digestive System Involvement	Chagas' Disease With Nervous System Involvement
Chagas' Disease With Other Organ Involvement	Infection Due To Trypanosoma Cruzi
South American Trypanosomiasis	Chronic Chagas Disease With Digestive System Involvement

Glomerulonephritis

Bright'S Disease

Acrofrontofacionasal Dysostosis

Acrofrontofacionasal Dysostosis Syndrome	Richieri-Costa-Colletto Syndrome
Affn Dysostosis	Affn Dysostosis 1
Acro Fronto Facio Nasal Dysostosis	Cleft Lip/Palate With Frontonasal Dysostosis And Postaxial Polysyndactyly
Polysyndactyly, Postaxial, Frontonasal Dysostosis And Cleft Lip/Palate

Megaesophagus

Esophageal Achalasia

Complement Component 3 Deficiency

C3 Deficiency

Craniosynostosis

Premature Closure Of Cranial Sutures	Craniostenosis
Craniosynostosis Syndrome	Cso
Craniosynostoses	Congenital Ossification Of Cranial Sutures
Congenital Ossification Of Sutures Of Skull	Craniostosis
Imperfect Fusion Of Skull	Congenital Imperfect Closure Skull
Imperfect Closure Skull	Premature Closure Cranium Sutures
Deficiency Of Craniofacial Axis

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

Radioulnar Synostosis

Radio-Ulnar Synostosis Type 1

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

Cardiomyopathy, Dilated, 1l

Dilated Cardiomyopathy 1l	CMD1L
Cardiomyopathy, Dilated 1l	Cardiomyopathy, Dilated, Type 1l

Babesiosis

Babesiasis	Infection By Babesia
Piroplasmosis	Human Babesiosis
Babesia Parasite Infection	Piroplasma Infection

Hypertelorism

Eyes Wide Apart	Eyes Widely Set
Hypertelorism Of Orbit	Ocular Hypertelorism
Orbital Separation Excessive

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS08159	MASP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	MASP1	MGD	MGI:88492
Bos taurus	MASP1	VGNC	VGNC:31255
Macaca mulatta	MASP1	VGNC	VGNC:74662
Canis familiaris	MASP1	VGNC	VGNC:43030
Rattus norvegicus	MASP1	RGD	RGD:620213
Felis catus	MASP1	VGNC	VGNC:68190
Macaca fascicularis	MASP1	NCBI	NCBI:101866962
Others	MASP1	NCBI

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沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

MASP1 - MBL associated serine protease 1 Gene

关于 MASP1

功能概要

MASP1 基因产物(3)

MASP1 蛋白结构

MASP1 蛋白互作信息

重组 MASP1 蛋白

关联疾病

直系同源

热门区域

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MASP1 - MBL associated serine protease 1 Gene

关于 MASP1

功能概要

MASP1 基因产物(3)

MASP1 蛋白结构

MASP1 蛋白互作信息

重组 MASP1 蛋白

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z