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Protein

Complement factor H-related protein 1

Gene

CFHR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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 metabolism.1 Publication

GO - Molecular functioni

  • protein heterodimerization activity Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB

GO - Biological processi

  • complement activation Source: ProtInc
  • negative regulation of protein binding Source: UniProtKB
  • positive regulation of cytolysis Source: UniProtKB
  • regulation of complement activation Source: Reactome

Enzyme and pathway databases

ReactomeiR-HSA-977606 Regulation of Complement cascade

Names & Taxonomyi

Protein namesi
Recommended name:
Complement factor H-related protein 1
Short name:
FHR-1
Alternative name(s):
H factor-like protein 1
Short name:
H-factor-like 1
H36
Gene namesi
Name:CFHR1
Synonyms:CFHL, CFHL1, CFHL1P, CFHR1P, FHR1, HFL1, HFL2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000244414.6
HGNCiHGNC:4888 CFHR1
MIMi134371 gene
neXtProtiNX_Q03591

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Hemolytic uremic syndrome atypical 1 (AHUS1)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry. A deletion encompassing CFHR1 and CFHR3 is associated with an increased risk of atypical hemolytic uremic syndrome, likely due to a defective regulation of complement activation (PubMed:17367211). Some patients carrying the deletion have serum anti-CFH autoantibodies (PubMed:18006700).2 Publications
Disease descriptionAn atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease.
See also OMIM:235400

Keywords - Diseasei

Hemolytic uremic syndrome

Organism-specific databases

DisGeNETi3078
GeneReviewsiCFHR1
MalaCardsiCFHR1
MIMi235400 phenotype
OpenTargetsiENSG00000244414
Orphaneti93581 Atypical hemolytic-uremic syndrome with anti-factor H antibodies
329931 C3 glomerulonephritis
93571 Dense deposit disease
PharmGKBiPA29265

Polymorphism and mutation databases

BioMutaiCFHR1
DMDMi218512041

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
ChainiPRO_000000589619 – 330Complement factor H-related protein 1Add BLAST312

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi23 ↔ 72PROSITE-ProRule annotation1 Publication
Disulfide bondi55 ↔ 83PROSITE-ProRule annotation1 Publication
Disulfide bondi87 ↔ 129PROSITE-ProRule annotation1 Publication
Disulfide bondi114 ↔ 140PROSITE-ProRule annotation1 Publication
Glycosylationi126N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi147 ↔ 190PROSITE-ProRule annotation
Disulfide bondi176 ↔ 201PROSITE-ProRule annotation
Glycosylationi194N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi208 ↔ 251PROSITE-ProRule annotation
Disulfide bondi237 ↔ 262PROSITE-ProRule annotation
Disulfide bondi266 ↔ 317PROSITE-ProRule annotation
Disulfide bondi300 ↔ 327PROSITE-ProRule annotation

Post-translational modificationi

N-glycosylated. Two forms are observed; one with a single side chain and the other with two.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ03591
MaxQBiQ03591
PaxDbiQ03591
PeptideAtlasiQ03591
PRIDEiQ03591
ProteomicsDBi58217

PTM databases

GlyConnecti1152
iPTMnetiQ03591
PhosphoSitePlusiQ03591

Expressioni

Tissue specificityi

Expressed by the liver and secreted in plasma.

Gene expression databases

BgeeiENSG00000244414 Expressed in 80 organ(s), highest expression level in liver
ExpressionAtlasiQ03591 baseline and differential
GenevisibleiQ03591 HS

Organism-specific databases

HPAiHPA038915
HPA038922
HPA040726

Interactioni

Subunit structurei

Head-to-tail homodimer and heterodimer with CFHR2 or CFHR5.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi109326, 3 interactors
IntActiQ03591, 1 interactor
STRINGi9606.ENSP00000314299

Structurei

Secondary structure

1330
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ03591
SMRiQ03591
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini22 – 84Sushi 1PROSITE-ProRule annotationAdd BLAST63
Domaini85 – 142Sushi 2PROSITE-ProRule annotationAdd BLAST58
Domaini145 – 203Sushi 3PROSITE-ProRule annotationAdd BLAST59
Domaini206 – 264Sushi 4PROSITE-ProRule annotationAdd BLAST59
Domaini273 – 329Sushi 5PROSITE-ProRule annotationAdd BLAST57

Keywords - Domaini

Repeat, Signal, Sushi

Phylogenomic databases

eggNOGiENOG410IEY8 Eukaryota
ENOG4111AE7 LUCA
GeneTreeiENSGT00910000143999
HOGENOMiHOG000049040
HOVERGENiHBG005665
InParanoidiQ03591
OMAiWLPTPKC
OrthoDBiEOG091G0J8N
PhylomeDBiQ03591
TreeFamiTF326157

Family and domain databases

CDDicd00033 CCP, 3 hits
InterProiView protein in InterPro
IPR035976 Sushi/SCR/CCP_sf
IPR000436 Sushi_SCR_CCP_dom
PfamiView protein in Pfam
PF00084 Sushi, 5 hits
SMARTiView protein in SMART
SM00032 CCP, 5 hits
SUPFAMiSSF57535 SSF57535, 5 hits
PROSITEiView protein in PROSITE
PS50923 SUSHI, 4 hits

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q03591-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MWLLVSVILI SRISSVGGEA TFCDFPKINH GILYDEEKYK PFSQVPTGEV
60 70 80 90 100
FYYSCEYNFV SPSKSFWTRI TCTEEGWSPT PKCLRLCFFP FVENGHSESS
110 120 130 140 150
GQTHLEGDTV QIICNTGYRL QNNENNISCV ERGWSTPPKC RSTDTSCVNP
160 170 180 190 200
PTVQNAHILS RQMSKYPSGE RVRYECRSPY EMFGDEEVMC LNGNWTEPPQ
210 220 230 240 250
CKDSTGKCGP PPPIDNGDIT SFPLSVYAPA SSVEYQCQNL YQLEGNKRIT
260 270 280 290 300
CRNGQWSEPP KCLHPCVISR EIMENYNIAL RWTAKQKLYL RTGESAEFVC
310 320 330
KRGYRLSSRS HTLRTTCWDG KLEYPTCAKR
Length:330
Mass (Da):37,651
Last modified:December 16, 2008 - v2
Checksum:iC0A1B38B8B34B6EF
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1AKG0B1AKG0_HUMAN
Complement factor H-related protein...
CFHR1
271Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti71T → N in CAA39666 (PubMed:1711047).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_001980157H → Y3 PublicationsCorresponds to variant dbSNP:rs425757Ensembl.1
Natural variantiVAR_001981159L → V3 PublicationsCorresponds to variant dbSNP:rs410232Ensembl.1
Natural variantiVAR_001982175E → Q3 PublicationsCorresponds to variant dbSNP:rs388862Ensembl.1
Natural variantiVAR_048816296A → V. Corresponds to variant dbSNP:rs16840561Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M65292 mRNA Translation: AAA35946.1
M65293 mRNA Translation: AAA35947.1
AK290830 mRNA Translation: BAF83519.1
AL049741 Genomic DNA No translation available.
BC016755 mRNA Translation: AAH16755.1
BC107771 mRNA Translation: AAI07772.1
X56209 mRNA Translation: CAA39666.1
CCDSiCCDS1386.1
PIRiI56100
RefSeqiNP_002104.2, NM_002113.2
UniGeneiHs.575869

Genome annotation databases

EnsembliENST00000320493; ENSP00000314299; ENSG00000244414
GeneIDi3078
KEGGihsa:3078
UCSCiuc001gtn.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M65292 mRNA Translation: AAA35946.1
M65293 mRNA Translation: AAA35947.1
AK290830 mRNA Translation: BAF83519.1
AL049741 Genomic DNA No translation available.
BC016755 mRNA Translation: AAH16755.1
BC107771 mRNA Translation: AAI07772.1
X56209 mRNA Translation: CAA39666.1
CCDSiCCDS1386.1
PIRiI56100
RefSeqiNP_002104.2, NM_002113.2
UniGeneiHs.575869

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3ZD2X-ray1.99A/B19-143[»]
4MUCX-ray2.90A/B205-329[»]
ProteinModelPortaliQ03591
SMRiQ03591
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109326, 3 interactors
IntActiQ03591, 1 interactor
STRINGi9606.ENSP00000314299

PTM databases

GlyConnecti1152
iPTMnetiQ03591
PhosphoSitePlusiQ03591

Polymorphism and mutation databases

BioMutaiCFHR1
DMDMi218512041

Proteomic databases

EPDiQ03591
MaxQBiQ03591
PaxDbiQ03591
PeptideAtlasiQ03591
PRIDEiQ03591
ProteomicsDBi58217

Protocols and materials databases

DNASUi3078
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000320493; ENSP00000314299; ENSG00000244414
GeneIDi3078
KEGGihsa:3078
UCSCiuc001gtn.4 human

Organism-specific databases

CTDi3078
DisGeNETi3078
EuPathDBiHostDB:ENSG00000244414.6
GeneCardsiCFHR1
GeneReviewsiCFHR1
HGNCiHGNC:4888 CFHR1
HPAiHPA038915
HPA038922
HPA040726
MalaCardsiCFHR1
MIMi134371 gene
235400 phenotype
neXtProtiNX_Q03591
OpenTargetsiENSG00000244414
Orphaneti93581 Atypical hemolytic-uremic syndrome with anti-factor H antibodies
329931 C3 glomerulonephritis
93571 Dense deposit disease
PharmGKBiPA29265
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEY8 Eukaryota
ENOG4111AE7 LUCA
GeneTreeiENSGT00910000143999
HOGENOMiHOG000049040
HOVERGENiHBG005665
InParanoidiQ03591
OMAiWLPTPKC
OrthoDBiEOG091G0J8N
PhylomeDBiQ03591
TreeFamiTF326157

Enzyme and pathway databases

ReactomeiR-HSA-977606 Regulation of Complement cascade

Miscellaneous databases

GeneWikiiCFHR1
GenomeRNAii3078
PROiPR:Q03591
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000244414 Expressed in 80 organ(s), highest expression level in liver
ExpressionAtlasiQ03591 baseline and differential
GenevisibleiQ03591 HS

Family and domain databases

CDDicd00033 CCP, 3 hits
InterProiView protein in InterPro
IPR035976 Sushi/SCR/CCP_sf
IPR000436 Sushi_SCR_CCP_dom
PfamiView protein in Pfam
PF00084 Sushi, 5 hits
SMARTiView protein in SMART
SM00032 CCP, 5 hits
SUPFAMiSSF57535 SSF57535, 5 hits
PROSITEiView protein in PROSITE
PS50923 SUSHI, 4 hits
ProtoNetiSearch...

Entry informationi

Entry nameiFHR1_HUMAN
AccessioniPrimary (citable) accession number: Q03591
Secondary accession number(s): A8K465, Q3B774, Q9UJ17
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: December 16, 2008
Last modified: October 10, 2018
This is version 160 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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