Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3078
Gene name	Complement factor H related 1
Gene symbol	CFHR1
Synonyms (NCBI Gene)	CFHLCFHL1CFHL1PCFHR1PFHL-1FHR-1FHR1H36H36-1H36-2HFL1HFL2
Chromosome	1
Chromosome location	1q31.3
Summary	This gene encodes a secreted protein belonging to the complement factor H protein family. It binds to Pseudomonas aeruginosa elongation factor Tuf together with plasminogen, which is proteolytically activated. It is proposed that Tuf acts as a virulence f

Show/Hide all (3)

miRTarBase ID	miRNA	Experiments
MIRT1963214	hsa-miR-3691-3p	CLIP-seq
MIRT1963215	hsa-miR-4517	CLIP-seq
MIRT1963216	hsa-miR-889	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001851	Function	Complement component C3b binding	IBA
GO:0005515	Function	Protein binding	IPI	19528535, 22786770, 23487775, 23728178, 27814381, 28533443, 31273197, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	TAS	1711047
GO:0006956	Process	Complement activation	IBA
GO:0006956	Process	Complement activation	TAS	1711047
GO:0032091	Process	Negative regulation of protein binding	IMP	23487775
GO:0032991	Component	Protein-containing complex	IDA	23487775
GO:0032991	Component	Protein-containing complex	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	19528535, 23487775, 23728178, 31273197
GO:0051838	Process	Cytolysis by host of symbiont cells	IEA
GO:0051838	Process	Cytolysis by host of symbiont cells	IMP	23487775
GO:0072562	Component	Blood microparticle	HDA	22516433

MIM	HGNC	e!Ensembl
134371	4888	ENSG00000244414

Q03591

Protein name

Complement factor H-related protein 1 (FHR-1) (H factor-like protein 1) (FHL-1) (H-factor-like 1) (H36)

Protein function

Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. Can associate with lipoproteins and may play a role in lipid metab

PDB

3ZD2 , 4MUC

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00084	Sushi	23 → 83	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	87 → 140	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	147 → 201	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	208 → 262	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	266 → 327	Sushi repeat (SCR repeat)	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma.

Sequence

MWLLVSVILISRISSVGGEATFCDFPKINHGILYDEEKYKPFSQVPTGEVFYYSCEYNFV
SPSKSFWTRITCTEEGWSPTPKCLRLCFFPFVENGHSESSGQTHLEGDTVQIICNTGYRL
QNNENNISCVERGWSTPPKCRSTDTSCVNPPTVQNAHILSRQMSKYPSGERVRYECRSPY
EMFGDEEVMCLNGNWTEPPQCKDSTGKCGPPPPIDNGDITSFPLSVYAPASSVEYQCQNL
YQLEGNKRITCRNGQWSEPPKCLHPCVISREIMENYNIALRWTAKQKLYLRTGESAEFVC
KRGYRLSSRSHTLRTTCWDGKLEYPTCAKR

Sequence length

330

Interactions

View interactions

	KEGG		Reactome
	Complement and coagulation cascades		Regulation of Complement cascade

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Age related macular degeneration 1	Conflicting classifications of pathogenicity	rs769938205	RCV002502042
Chronic kidney disease	Uncertain significance; Conflicting classifications of pathogenicity	rs1376009483, rs1655514497, rs140799744	RCV001171357 RCV001171351 RCV001171355
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs140799744	RCV005908879
Hemolytic uremic syndrome, atypical, susceptibility to, 1	Uncertain significance; Conflicting classifications of pathogenicity	rs781409951, rs200832275, rs769938205, rs1455233012	RCV001330883 RCV004785336 RCV002502042 RCV004577572
Hepatocellular carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs138970064, rs140799744	RCV005922701 RCV005908880
Kidney disorder	Benign	rs111236855	RCV002294475
Uterine carcinosarcoma	Benign	rs424925	RCV005924876

Show/Hide Text Mining Associations (54)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Inhibit	31485643
Atherosclerosis	Stimulate	34795372
Atrial Fibrillation	Associate	32389013
Atypical Hemolytic Uremic Syndrome	Associate	17367211, 18006700, 19745068, 20016463, 21617085, 22410797, 22494769, 22786770, 22894814, 23243267, 23880784, 25659429, 28993505, 30715674, 31118930 View all (7 more)
Autoimmune Diseases	Associate	23728171
Bile Duct Neoplasms	Associate	38286352
Brain Neoplasms	Associate	26849056
Calcinosis	Associate	35398599
Cardiomyopathies	Associate	37147581
Central Serous Chorioretinopathy	Associate	30073298
Complement Component 3 Deficiency Autosomal Recessive	Associate	35545301
Complement Factor H Deficiency	Inhibit	17367211
Complement Factor H Deficiency	Associate	23243267, 23728171, 23728178, 25659429, 28729035, 31118930, 35545301
COVID 19	Associate	35064759
COVID 19	Stimulate	36169042
Disease	Associate	35398599
Fibrosis	Associate	33091234
Gastrointestinal Diseases	Associate	37147581
Geographic Atrophy	Associate	22558131
Glomerulonephritis IGA	Associate	21399633, 22626820, 23613724, 25205734, 26940089, 28637589, 35545301, 37651123
Glomerulonephritis IGA	Stimulate	28673452
Glomerulopathy with fibronectin deposits	Associate	28729035
Glycogen Storage Disease Type II	Associate	23613724
Hemolytic Uremic Syndrome	Associate	17076561, 18006700, 19435718, 21617085, 22494769, 22894814, 23243267, 23880784, 24005975, 30715674, 33519821, 33777036, 34724668, 35730179
Hemorrhage	Associate	37147581
Hypertension	Associate	22848687
Immunoglobulin G4 Related Disease	Associate	33643292
Immunologic Deficiency Syndromes	Associate	23728178, 24005975, 25205734, 34724668, 37651123
Inflammation	Stimulate	34795372
Inflammation	Associate	35126388
Kidney Diseases	Associate	22626820, 28637589
Kidney Failure Chronic	Associate	23880784, 37147581
Lung Neoplasms	Associate	31485643
Lupus Erythematosus Systemic	Associate	21637784, 23613724, 35398599
Lymphoma Follicular	Associate	22718493
Macular Degeneration	Associate	17438673, 19745068, 22247456, 22558131, 22848687, 23873044, 28533443, 32034129, 32321835, 34260948, 34563268, 35545301
Macular Degeneration	Inhibit	21850184, 33273512
Macular Degeneration	Stimulate	34260947
Mesangial sclerosis diffuse	Associate	29114042
Mpox (monkeypox)	Associate	36169042
Multiple Myeloma	Associate	36849497
Myocardial Infarction	Stimulate	32389013
Necrosis	Associate	28533443, 32321835
Neoplasms	Associate	31485643, 38286352
Plaque Atherosclerotic	Associate	34795372
Pneumococcal Infections	Associate	36070894
Polycystic Kidney Autosomal Dominant	Associate	28637589
Pressure Ulcer	Associate	22848687
Primary Immunodeficiency Diseases	Associate	28911789
Renal Insufficiency	Associate	37147581
Rett Syndrome	Associate	21593744
Rheumatic Diseases	Associate	22894814
Thrombotic Microangiopathies	Associate	23814021, 33643292, 34648498, 36070894, 36849497
Vasculitis	Associate	37923132

CFHR1 (complement factor H related 1)