CFHR1
Complement factor H-related protein 1
Also known as: CFHL, CFHL1, CFHL1P, CFHR1P, FHR1, FHR1_HUMAN, H36-1, H36-2, HFL1, HFL2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q03591
- Gene
- CFHR1
- Ensembl
- ENSG00000244414
- Chromosome
- 1
- Canonical length
- 330 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted secreted proteins
- Subcellular location
- Vesicles
- Secretome location
- Secreted to blood
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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 factor by acquiring host proteins to the pathogen surface, controlling complement, and facilitating tissue invasion. Mutations in this gene are associated with an increased risk of atypical hemolytic-uremic syndrome. [provided by RefSeq, Oct 2009]
Canonical amino-acid sequenceUniProt
330 residues, UniProt reviewed canonical sequence.
>Q03591|CFHR1
1 MWLLVSVILI SRISSVGGEA TFCDFPKINH GILYDEEKYK PFSQVPTGEV FYYSCEYNFV
61 SPSKSFWTRI TCTEEGWSPT PKCLRLCFFP FVENGHSESS GQTHLEGDTV QIICNTGYRL
121 QNNENNISCV ERGWSTPPKC RSTDTSCVNP PTVQNAHILS RQMSKYPSGE RVRYECRSPY
181 EMFGDEEVMC LNGNWTEPPQ CKDSTGKCGP PPPIDNGDIT SFPLSVYAPA SSVEYQCQNL
241 YQLEGNKRIT CRNGQWSEPP KCLHPCVISR EIMENYNIAL RWTAKQKLYL RTGESAEFVC
301 KRGYRLSSRS HTLRTTCWDG KLEYPTCAKRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CFHR1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.36
- Highest tissue expression
- 1,937 nTPM
Expression across tissuesHPA
Tissue
- liver: 1,937 nTPM
- lymph node: 8.6 nTPM
- kidney: 7.4 nTPM
- spleen: 5.5 nTPM
- ovary: 2.6 nTPM
- appendix: 2.2 nTPM
Single-cell type
- hepatocytes: 131 nCPM
- granulosa cells: 50 nCPM
- kupffer cells: 15 nCPM
- hofbauer cells: 13 nCPM
- ovarian stromal cells: 7.3 nCPM
- pericytes: 5.4 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- midbrain: 1.7 nTPM
- pons: 0.8 nTPM
- thalamus: 0.4 nTPM
- hypothalamus: 0.2 nTPM
- medulla oblongata: 0.2 nTPM
- cerebral cortex: 0.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CFHR1.
Disease | AllUniProt
Conditions CFHR1 is implicated in, by any mechanism.
- Hemolytic uremic syndrome, atypical, 1 (AHUS1) MIM:235400
Disease | ImmuneIEDB
Conditions an epitope on CFHR1 was assayed in.
- rheumatoid arthritis B cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.53
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.33
- DepMap mean gene effect
- 0.12
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CFHR1 as an antibody target. Whether an autoantibody or antibody against CFHR1 could matter depends on whether native CFHR1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CFHR1 is annotated as secreted, so native CFHR1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label CFHR1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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