1. Gene
  2. FCN3 - ficolin 3 Gene

FCN3 - ficolin 3 Gene

中文名称:纤维胶蛋白 3

种属: Homo sapiens

同用名: FCNH; HAKA1

基因 ID: 8547 | 基因类型: protein coding

关于 FCN3

Cytogenetic location: 1p36.11 Genomic coordinates (GRCh38): 1:27,369,110-27,374,824 (from NCBI)

This gene has 6 transcripts (splice variants), 52 orthologues, 25 paralogues and is associated with 2 phenotypes. Biased expression in lung (RPKM 93.2), liver (RPKM 47.7) and 3 other tissues.

功能概要

Ficolins 是一组蛋白质,由胶原蛋白样结构域和纤维蛋白原样结构域组成。在人血清中,有两种纤维胶蛋白,它们都具有凝集素活性。由该基因编码的蛋白质是一种不耐热的 β-2-巨糖蛋白,存在于所有人类血清中,是纤维胶蛋白/调理素 p35 凝集素家族的成员。该蛋白质最初是根据其与系统性红斑狼疮患者血清的反应性而确定的,已被证明具有钙非依赖性凝集素活性。该蛋白可以激活与 MASP 和 sMAP 相关的补体途径,从而通过激活凝集素途径帮助宿主防御。可变剪接发生在该位点,并且已经鉴定出两个变体,每个变体编码不同的亚型。[RefSeq 提供,2008 年 7 月]

Ficolins are a group of proteins which consist of a collagen-like domain and a fibrinogen-like domain. In human serum, there are two types of ficolins, both of which have lectin activity. The protein encoded by this gene is a thermolabile beta-2-macroglycoprotein found in all human serum and is a member of the ficolin/opsonin p35 lectin family. The protein, which was initially identified based on its reactivity with sera from patients with systemic lupus erythematosus, has been shown to have a calcium-independent lectin activity. The protein can activate the complement pathway in association with MASPs and sMAP, thereby aiding in host defense through the activation of the lectin pathway. Alternative splicing occurs at this locus and two variants, each encoding a distinct isoform, have been identified. [provided by RefSeq, Jul 2008]

FCN3 基因产物(2)

mRNA Protein Name
NM_003665.4 NP_003656.2 ficolin-3 isoform 1 precursor
NM_173452.3 NP_775628.1 ficolin-3 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 antigen binding IDA
IDA: 通过直接分析推断
22851708 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
19109177 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11907111 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in complement activation IDA
IDA: 通过直接分析推断
22851708 GOA
involved in complement activation, lectin pathway IDA
IDA: 通过直接分析推断
11907111 GOA
involved in defense response to virus IDA
IDA: 通过直接分析推断
22851708 GOA
involved in negative regulation of RNA biosynthetic process IDA
IDA: 通过直接分析推断
22851708 GOA
involved in negative regulation of viral entry into host cell IMP
IMP: 通过突变表型推断
22851708 GOA
involved in positive regulation of opsonization IDA
IDA: 通过直接分析推断
11907111 GOA
involved in proteolysis IDA
IDA: 通过直接分析推断
11907111 GOA
involved in recognition of apoptotic cell IDA
IDA: 通过直接分析推断
15804047 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of serine-type endopeptidase complex IDA
IDA: 通过直接分析推断
11907111 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

FCN3 蛋白结构

Collagen

Collagen: Collagen triple helix repeat (20 copies) (47 - 79)

Fibrinogen_C

Fibrinogen_C: Fibrinogen beta and gamma chains, C-terminal globular domain (90 - 299)

  • 0
  • 100
  • 200
  • 299 a.a.
蛋白主名 其他名称

ficolin-3

H-ficolin

FCN3 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
FCN3 O75636 MASP1 Homo sapiens P48740-2
GMS
23785123
种属内
FCN3 O75636 MASP1 Homo sapiens P48740-3
GMS
23785123
种属内
FCN3 O75636 FCN2 Homo sapiens Q15485
Anti Bait CoIP
32094208
种属间
FCN3 O75636 fbpB Mycobacterium tuberculosis P9WQP1
Anti Bait CoIP
27141819
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
Ficolin 3 Deficiency

Immunodeficiency Due To Ficolin 3 Deficiency

Immunodeficiency Due To Ficolin3 Deficiency

Fcn3 Deficiency

Lcapd3

Lectin Complement Activation Pathway, Defect In, 3

FCN3D

Defect In Lectin Complement Activation Pathway, 3

Rheumatic Heart Disease

Rheumatic Carditis

Rheumatic Congestive Heart Failure

Congestive Rheumatic Heart Failure

Rheumatic Heart Failure

RHD

Rheumatic Fever Inactive Or Quiescent With Heart Disease

Rheumatic Fever Inactive Or Quiescent With Carditis

Organ Rheumatic Heart Disease

Organic Rheumatic Heart Disease

Inactive Rheumatic Heart Disease

Rheumatic Heart

Rheumatic Fever Inactive Or Quiescent With Pancarditis

Rhd - [Rheumatic Heart Disease]

Rheumatic Cardiac Hypertrophy

Rheumatic Fever

Inactive Or Quiescent With Cardiac Hypertrophy

Rheumatic Pancarditis

Inactive Rhd - [Rheumatic Heart Disease]

Rheumatic Nonischaemic Cardiopathy

Rheumatic Fever

Acute Rheumatic Fever

Rhf - Rheumatic Fever

Inflammatory Rheumatism

Active Rheumatic Fever Nos

Acute Active Rheumatic Fever

Subacute Active Rheumatic Fever

Subacute Rheumatic Fever

Active Rheumatic Fever With Unspecified Type Of Heart Involvement

Acute Rheumatic Heart Disease

Active Rheumatic Heart Disease

Acute Organic Rhd - [Rheumatic Heart Disease]

Acute Rhd - [Rheumatic Heart Disease]

Lupus Erythematosus

Lupus

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus, Systemic

Subacute Cutaneous Lupus

Le - [Lupus Erythematosus]

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]

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

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

3mc Syndrome 1

Oculopalatoskeletal Syndrome

3MC1

Craniosynostosis With Lid Anomalies

Michels Syndrome, Formerly

Michels Syndrome

3mc Syndrome, Type 1

Pulmonary Aspergilloma
Agammaglobulinemia 4, Autosomal Recessive

Agammaglobulinemia 4

AGM4

Agammaglobulinemia, Autosomal Recessive, Due To Blnk Defect

B Cell Linker Protein Deficiency

B-Cell Linker Protein Deficiency

Blnk Deficiency

Agammaglobulinemia Autosomal Recessive Due To Blnk Defect

Agammaglobulinemia, Type 4, Autosomal Recessive

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

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Leprosy 3

Leprosy

Leprosy, Susceptibility To, 3

Hansen'S Disease

Leprosy, Susceptibility To

Hansen Disease

Infection Due To Mycobacterium Leprae

LPRS3

Leprosy, Type 3

Anaesthesia Leprosy

Anaesthetic Leprosy

Maculoanaesthetic Leprosy

Macular Leprosy

Leprosy Unspecified

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 FCN3 VGNC VGNC:72630
Rattus norvegicus FCN3 RGD RGD:621221