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FLASH GENE

Symbol

CFHR1

contributors: mct/npt - updated : 11-02-2019

HGNC name	complement factor H-related 1
HGNC id	4888

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	1q31.3      Physical location : 196.788.860 - 196.801.316
Synonym name	H factor (complement)-like 1
	complement factor H-related 1 pseudogene
	H factor (complement)-like 2
Synonym symbol(s)	CFHL, CFHL1, FHR1, HFL1, MGC104329, HFL2, H36-1, H36-2, CFHL1P, CFHR1P

DNA

TYPE	functioning gene
STRUCTURE	12.46 kb     6 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - CFH - CFHR3 - CFHR1 - CFHR2 - CFHR5 - CR2 CR2 CR2 CR2 - CR1 CR1 - CR1L - qter
Authors	Jozsi(05)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002113 6 - 1312 NP_002104 37 330 - Skerka (1991)

EXPRESSION

Type	restricted

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive liver       highly Lymphoid/Immune spleen         Respiratory respiratory tract larynx

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	five sushi (ccp/scr) domains
	a signal peptide
	five short consensus repeats (SCR)
	four N-glycosylation sites

conjugated

GlycoP

mono polymer

homomer , dimer

HOMOLOGY

Homologene

FAMILY

CATEGORY

immunity/defense , regulatory

SUBCELLULAR LOCALIZATION

extracellular

basic FUNCTION	involved in complement regulation
	can associate with lipoproteins and may play a role in lipid metabolism
	represents a complement regulator that acts downstream of factor H by inhibiting the C5 convertase and the assembly and membrane insertion of the terminal complement complex (TCC)
	CFHR3 and CFHR1 inhibit C5a generation and complement-mediated chemotaxis of neutrophils
	inhibits the C5 convertase and the terminal complement pathway
	may be involved in the regulation of complement during synapse elimination, and were found to be deleted in a Z-RTT (Rett milder Zappella variant) but duplicated in two classic patients

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

CRP is a ligand for CFHR1, suggesting that CFHR1 enhances, rather than inhibits, complement activation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   age-down regulated in the frontal cortex constitutional   deletion     is considered to have a protective effect against age-related macular degeneration (AMD)(

Susceptibility

to age-related macular degeneration to atypical haemolytic uraemic syndrome (aHUS)

Variant & Polymorphism insertion/deletion	deletion of CFHR1 with deletion of CFHR3, associated with lower risk of age-related macular degeneration
	high frequency of CFHR1 deletion in aHUS patients is restricted to the subgroups of patients presenting with anti-FH autoantibodies or, to a lesser degree, CFI mutation(CFHR1 deletion plays a secondary role in susceptibility to aHUS) (Dragon-Durey 2009)
	delta-CFHR3/CFHR1 confers a protective effect against AMD development independent of the sequence variants of factor H

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed immunology infectious   exogenous CFHR1 provided during plasma exchange therapy may neutralize anti-factor H autoantibodies and help in the treatment of autoimmune atypical hemolytic uremic syndrome

ANIMAL & CELL MODELS