CFP - complement factor properdin Gene

Also Known as BFD; PFC; PFD; PROPERDIN

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5199

About 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.

Summary

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 Products (2)

mRNA	Protein	Name
NM_001145252.3	NP_001138724.1	properdin precursor
NM_002621.2	NP_002612.1	properdin precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22518841	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in cytoplasmic side of Golgi membrane	IDA IDA: Inferred from direct assay	23901101	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CFP Protein Structure

TSP_1

0
100
200
300
400
469 a.a.

Protein Preferred Names	Protein Names
properdin	complement factor P

CFP Protein-protein interaction Information

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

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-P5453	CFP10 (71–85)		99.43%	Unkown
HY-RS02571	CFP Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20678	Cfp Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27189	Cfp Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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