1. Gene
  2. CFP - complement factor properdin Gene

CFP - complement factor properdin Gene

中文名称:补体因子备解素

种属: Homo sapiens

同用名: BFD; PFC; PFD; PROPERDIN

基因 ID: 5199 | 基因类型: protein coding

关于 CFP

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:47,623,282-47,630,305 (from NCBI)

This gene has 8 transcripts (splice variants), 123 orthologues and is associated with 2 phenotypes. Biased expression in spleen (RPKM 27.2), bone marrow (RPKM 22.4) and 5 other tissues.

功能概要

该基因编码一种血浆糖蛋白,可正向调节先天免疫系统的替代补体途径。这种蛋白质与许多微生物表面和凋亡细胞结合,并在反馈回路中稳定 C3 和 C5 转化酶复合物,最终导致膜攻击复合物的形成和靶细胞的裂解。该基因的突变导致两种形式的备解素缺乏,从而导致对脑膜炎球菌感染的高度易感性。已鉴定出编码相同蛋白质的多个选择性剪接变体。[RefSeq 提供,2009 年 2 月]

This gene encodes a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. This protein binds to many microbial surfaces and apoptotic cells and stabilizes the C3- and C5-convertase Enzyme complexes in a feedback loop that ultimately leads to formation of the membrane attack complex and lysis of the target cell. Mutations in this gene result in two forms of properdin deficiency, which results in high susceptibility to meningococcal infections. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Feb 2009]

CFP 基因产物(2)

mRNA Protein Name
NM_001145252.3 NP_001138724.1 properdin precursor
NM_002621.2 NP_002612.1 properdin precursor
基因本体论
  • 分子功能
  • 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
22518841 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasmic side of Golgi membrane IDA
IDA: 通过直接分析推断
23901101 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

CFP 蛋白结构

TSP_1

TSP_1: Thrombospondin type 1 domain (81 - 132)

TSP_1

TSP_1: Thrombospondin type 1 domain (140 - 190)

TSP_1

TSP_1: Thrombospondin type 1 domain (198 - 254)

TSP_1

TSP_1: Thrombospondin type 1 domain (261 - 312)

TSP_1

TSP_1: Thrombospondin type 1 domain (320 - 376)

TSP_1

TSP_1: Thrombospondin type 1 domain (383 - 408)

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

properdin

complement factor P

CFP 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
CFP P27918 MID2 Homo sapiens Q9UJV3-2
Validated Y2H
32296183
种属内
CFP P27918 KRTAP12-2 Homo sapiens P59991
Y2H Prey Pooling
32296183
种属内
CFP P27918 KRTAP12-2 Homo sapiens P59991
Y2H Array
32296183
种属内
CFP P27918 KRTAP12-2 Homo sapiens P59991
Validated Y2H
32296183
种属内
CFP P27918 RECK Homo sapiens Q6P9E2
Validated Y2H
32296183
种属内
CFP P27918 KRTAP11-1 Homo sapiens Q8IUC1
Y2H Prey Pooling
32296183
种属内
CFP P27918 KRTAP11-1 Homo sapiens Q8IUC1
Validated Y2H
32296183
种属内
CFP P27918 KRTAP11-1 Homo sapiens Q8IUC1
Y2H Array
32296183
种属间
CFP P27918 Ncr1 Mus musculus Q8C567
SPR
28480349
种属内
CFP P27918 NEK6 Homo sapiens Q9HC98-4
Validated Y2H
32296183
种属内
CFP P27918 SPAG8 Homo sapiens Q99932-2
MAPPIT
32296183
种属内
CFP P27918 SPAG8 Homo sapiens Q99932-2
Validated Y2H
32296183
种属内
CFP P27918 LCE1A Homo sapiens Q5T7P2
Validated Y2H
32296183
种属内
CFP P27918 KRTAP6-2 Homo sapiens Q3LI66
Y2H Prey Pooling
32296183
种属内
CFP P27918 KRTAP6-2 Homo sapiens Q3LI66
Validated Y2H
32296183
种属内
CFP P27918 KRTAP6-2 Homo sapiens Q3LI66
Y2H Array
32296183
种属内
CFP P27918 GNE Homo sapiens Q9Y223-2
Validated Y2H
32296183
种属内
CFP P27918 BANF2 Homo sapiens Q9H503-2
Validated Y2H
32296183
种属内
CFP P27918 NOXA1 Homo sapiens Q86UR1-2
Validated Y2H
32296183
种属内
CFP P27918 ARMS2 Homo sapiens P0C7Q2
Confocal
28086806
种属内
CFP P27918 ARMS2 Homo sapiens P0C7Q2
ELISA
28086806
种属内
CFP P27918 ARMS2 Homo sapiens P0C7Q2
BLI
28086806
种属内
CFP P27918 ARMS2 Homo sapiens P0C7Q2
FACS
28086806
种属内
CFP P27918 CFHR4 Homo sapiens Q92496-1
ELISA
22518841
种属内
CFP P27918 CFHR4 Homo sapiens Q92496-3
ELISA
22518841
种属内
CFP P27918 LONRF1 Homo sapiens Q17RB8
Validated Y2H
32296183
种属内
CFP P27918 SMARCC1 Homo sapiens Q92922
Validated Y2H
32296183
种属内
CFP P27918 GEMIN4 Homo sapiens P57678
Validated Y2H
32296183
种属内
CFP P27918 GEMIN4 Homo sapiens P57678
Y2H Array
32296183
种属内
CFP P27918 GEMIN4 Homo sapiens P57678
Y2H Prey Pooling
32296183
种属内
CFP P27918 ZNF330 Homo sapiens Q9Y3S2
Validated Y2H
32296183
种属内
CFP P27918 CYSRT1 Homo sapiens A8MQ03
Y2H Array
32296183
种属内
CFP P27918 CYSRT1 Homo sapiens A8MQ03
Y2H Prey Pooling
32296183
种属内
CFP P27918 KCTD9 Homo sapiens Q7L273
Validated Y2H
32296183
种属内
CFP P27918 HEXIM2 Homo sapiens Q96MH2
Validated Y2H
32296183
种属内
CFP P27918 KLHL38 Homo sapiens Q2WGJ6
Validated Y2H
32296183
种属内
CFP P27918 HOXA1 Homo sapiens P49639
Y2H Array
32296183
种属内
CFP P27918 HOXA1 Homo sapiens P49639
Y2H Prey Pooling
32296183
种属内
CFP P27918 HOXA1 Homo sapiens P49639
Validated Y2H
32296183
种属内
CFP P27918 ZNF414 Homo sapiens Q96IQ9
Validated Y2H
32296183
种属内
CFP P27918 FKBP6 Homo sapiens O75344
MAPPIT
32296183
种属内
CFP P27918 CFAP206 Homo sapiens Q8IYR0
Validated Y2H
32296183
种属内
CFP P27918 FHL5 Homo sapiens Q5TD97
Y2H Array
32296183
种属内
CFP P27918 FHL5 Homo sapiens Q5TD97
Y2H Prey Pooling
32296183
种属内
CFP P27918 FHL5 Homo sapiens Q5TD97
Validated Y2H
32296183
种属内
CFP P27918 KRTAP3-1 Homo sapiens Q9BYR8
Y2H Prey Pooling
32296183
种属内
CFP P27918 KRTAP3-1 Homo sapiens Q9BYR8
Validated Y2H
32296183
种属内
CFP P27918 KRTAP3-1 Homo sapiens Q9BYR8
Y2H Array
32296183
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
Properdin Deficiency, X-Linked

Properdin Deficiency

PFD

CFPD

Properdin P Factor Deficiency

Complement Factor Properdin Deficiency

X-Linked Properdin Deficiency

Properdin Deficiency, Type I

Properdin Deficiency, Type 1

Properdin Deficiency Disease

Complement Deficiency

Complement Deficiency Disease

Hereditary Complement Deficiency Diseases

Acute Poststreptococcal Glomerulonephritis

Post-Streptococcal Glomerulonephritis

Acute Post-Streptococcal Glomerulonephritis

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

Meningitis

Streptococcal Meningitis

Acute Streptococcal Meningitis

Staphylococcal Meningitis

Adenoviral Meningitis

Influenza Meningitis

Influenzal Meningitis

Meningitis Due To H. Influenzae

Cryptococcal Meningitis

Fungal Meningitis Due To Cryptococcus Neoformans

Cryptococcosis Meningitis

Cryptococcus Meningitis

Cryptococcal Meningoencephalitis

Meningitis Due To Cryptococcus

Mumps Virus Meningitis

Mumps Meningitis

Bacterial Meningitis

Meningitis, Bacterial

Meningitis Bacterial

Bm - [Bacterial Meningitis]

Leptomeningitis Bacterial

Pachymeningitis Bacterial

Arachnoiditis Bacterial

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

Scabies

Sarcoptic Itch

Infestation By Sarcoptes Scabiei

Infestation By Sarcoptes Scabiei Var Hominis

Infestation By Sarcoptes Scabiei Var. Hominis

Meningococcal Infection

Meningococcal Disease

Meningococcal Infections

Neisseria Meningitidis Infection

Meningococcal Diseases

Meningococcus

Infection Due To Neisseria Meningitidis

Meningococcal Disease Nos

Meningococcal Infection Nos

Angular Blepharoconjunctivitis
Glomerulonephritis

Bright'S Disease

Protein C Deficiency

Hereditary Thrombophilia Due To Protein C Deficiency

Proc Deficiency

Congenital Thrombotic Disease, Due To Protein C Deficiency

Afibrinogenemia, Congenital

Congenital Afibrinogenemia

Afibrinogenemia

Factor I Deficiency

Familial Afibrinogenemia

Hypofibrinogenemia, Congenital

Fibrinogen Deficiency

Afibrinogenemia Congenital

CAFBN

Congenital Hypofibrinogenemia

Hypofibrinogenemia

Complement Factor I Deficiency

Cicatricial Pemphigoid

Mucous Membrane Pemphigoid

Ocular Pemphigoid

Benign Mucous Membrane Pemphigoid

Benign Mucous Membrane Pemphigoid With Ocular Involvement

Benign Mucosal Pemphigoid

Pemphigoid, Benign Mucous Membrane

Cicatricial Pemphigoid With Ocular Involvement

Ocular Pemphigus

Cicatricial Pemphigoid Disease

Mucosal Pemphigoid

Mucosynechial Pemphigoid

Pemphigoid Cicatricial

Cicatricial Pemphigoid Involving The Eye

Ocular Cicatricial Pemphigoid

Diffuse Glomerulonephritis

Glomerulonephritis Diffuse

Complement Component 3 Deficiency

C3 Deficiency

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

Complement Factor I Deficiency

Complement Component 3 Inactivator Deficiency

C3 Inactivator Deficiency

Hereditary Factor I Deficiency Disease

C3 Glomerulopathy 2

CFID

C3g2

Immunodeficiency With Factor I Anomaly

Complete Factor I Deficiency

CFI DEFICIENCY

Deficiency, Complement Factor I

Complement Factor I Deficiency

Deficiency Of Factor 1

Hereditary Fibrinogen Deficiency

Deficiency Of Fibrinogen

Congenital Fibrinogenopenia

Anthracosilicosis
Severe Combined Immunodeficiency, X-Linked

X-Linked Severe Combined Immunodeficiency

SCIDX1

XSCID

Scidx

X-Linked Scid

X-Scid

Severe Combined Immunodeficiency, X-Linked, T Cell-Negative, B Cell-Positive, Nk Cell-Negative

Scid, X-Linked

Immunodeficiency 4

Imd4

Gamma Chain Deficiency

Scid-X1

X-Linked Combined Immunodeficiency Diseases

Thymic Epithelial Hypoplasia

Severe Combined Immunodeficiency T- B+ Due To Gamma Chain Deficiency

Severe Combined Immunodeficiency T- B+, X-Linked

Il2rg Scid, T- B+ Nk-

T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency

T-B+ Scid Due To Gamma Chain Deficiency

T-B+ Severe Combined Immunodeficiency, X-Linked

Severe Combined Immunodeficiency X-Linked T-Cell-Negative/B-Cell-Positive/Nk-Cell-Negative

Agammaglobulinemia Swiss Type

Scid X-Linked

Severe Combined Immunodeficiency X-Linked T Cell-Negative/B Cell-Positive/Nk Cell-Negative

Severe Combined Immunodeficiency X-Linked T-Cell Negative/B-Cell Positive/Nk-Cell Negative

Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency

Complement Component 5 Deficiency

C5 Deficiency

C5D

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

Immune-Complex Glomerulonephritis

Immune Complex Glomerulonephritis

Bacterial Infectious Disease

Bacterial Infections

Bacterial Infection Nos

Disease Caused By Bacteria

Bacterial Disease Or Disorder

Ehlers-Danlos Syndrome

Eds

Cutis Hyperelastica

Elastic Skin

Ehlers-Danlos Syndromes

Ed Syndrome

Ehlers Danlos Syndrome

Ehlers Danlos Disease

Eds - [Ehlers-Danlos Syndrome]

Hypersensitivity Reaction Type Iii Disease

Immune Complex Diseases

Immune Complex Disease

Type Iii Hypersensitivity Reaction Disease

Chronic Granulomatous Disease

Cgd

Granulomatous Disease, Chronic

Autosomal Recessive Chronic Granulomatous Disease

X-Linked Chronic Granulomatous Disease

Bridges-Good Syndrome

Congenital Dysphagocytosis

Quie Syndrome

Chronic Septic Granulomatosis

Chronic Granulomatous Disorder

Granulomatous Disease Chronic

Granulomatous Disease, Chronic, X-Linked

Farsightedness

Hypermetropia

Hyperopia

Far-Sightedness

Farsighted

Long-Sighted

Long-Sightedness

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

Anti-Basement Membrane Glomerulonephritis

Anti-Gbm Glomerulonephritis

Peters-Plus Syndrome

Krause-Kivlin Syndrome

Peters Plus Syndrome

Peters Anomaly

Irido-Corneo-Trabecular Dysgenesis

PTRPLS

Peters Anomaly With Short-Limb Dwarfism

Peters Anomaly-Short Limb Dwarfism Syndrome

Peters Anomaly With Short Limb Dwarfism

Peters Congenital Glaucoma

Krause-Van Schooneveld-Kivlin Syndrome

Peters' Plus Syndrome

Peters'-Plus Syndrome

Anomaly Peters

Rapidly Progressive Glomerulonephritis

Glomerulonephritis Rapidly Progressive

Idiopathic Crescentic Glomerulonephritis

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

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

Immune Deficiency Disease

Immunodeficiency

Primary Immunodeficiency

Primary Immunodeficiency Disease

Immunologic Deficiency Syndromes

Hypoimmunity

Immune Deficiency Disorder

Immunodeficiency Syndrome

Immune Disorder

Primary Immune Deficiency Disorder

Immune System Diseases

Human Immunodeficiency Virus Infection

Hiv - [Human Immunodeficiency Virus Infection]

Hiv Positive Nos

Hiv Disease

Acquired Immune Deficiency Syndrome-Related Complex

Aids-Like Syndrome

Aids-Related Complex Nos

Arc - [Aids-Related Complex]

Immunodeficiency Due To Human Immunodeficiency Virus Infection

Unspecified Human Immunodeficiency Virus Disease

Hiv Disease Nos

Human Immunodeficiency Virus Positive Nos

Hiv Nos

Deficiency Of Complement Initial Pathway

Deficiency Of Complement Terminal Pathway

Cfdd - [Complement Factor D Deficiency]

Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

Nonfamilial Hypogammaglobulinaemia

Common Variable Immune Deficiency

Nonfamilial Agammaglobulinaemia

Common Variable Agammaglobulinaemia

Agammaglobulinaemia Nos

Agammaglobulinaemia Antibody Deficiency Syndrome

Hypogammaglobulinaemia Antibody Deficiency Syndrome

Acquired Agammaglobulinaemia Nos

Hypogammaglobulinaemia Nos

Hyper Igm

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
Rattus norvegicus CFP RGD RGD:1594557
Mus musculus CFP MGD MGI:97545
Macaca mulatta CFP VGNC VGNC:71163
Bos taurus CFP VGNC VGNC:27256
Felis catus CFP VGNC VGNC:68801
Canis familiaris CFP VGNC VGNC:39179
Others CFP NCBI