UniProtKB - Q9BXR6 (FHR5_HUMAN)
Protein
Complement factor H-related protein 5
Gene
CFHR5
Organism
Homo sapiens (Human)
Status
Functioni
Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH.1 Publication
GO - Molecular functioni
- identical protein binding Source: UniProtKB
- protein heterodimerization activity Source: UniProtKB
GO - Biological processi
- complement activation, alternative pathway Source: UniProtKB
- cytolysis by host of symbiont cells Source: UniProtKB
- negative regulation of protein binding Source: UniProtKB
- regulation of complement activation Source: Reactome
Enzyme and pathway databases
PathwayCommonsi | Q9BXR6 |
Reactomei | R-HSA-977606, Regulation of Complement cascade |
Names & Taxonomyi
Protein namesi | Recommended name: Complement factor H-related protein 5Short name: FHR-5 |
Gene namesi | Name:CFHR5 Synonyms:CFHL5, FHR5 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:24668, CFHR5 |
MIMi | 608593, gene |
neXtProti | NX_Q9BXR6 |
VEuPathDBi | HostDB:ENSG00000134389.9 |
Subcellular locationi
Extracellular region or secreted
Extracellular region or secreted
- extracellular region Source: Reactome
Other locations
- protein-containing complex Source: UniProtKB
Keywords - Cellular componenti
SecretedPathology & Biotechi
Involvement in diseasei
Defects in CFHR5 have been found in patients with atypical hemolytic uremic syndrome and may contribute to the disease. Atypical hemolytic uremic syndrome 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. Susceptibility to the development of atypical hemolytic uremic syndrome can be conferred by mutations in various components of or regulatory factors in the complement cascade system. Other genes may play a role in modifying the phenotype.2 Publications
CFHR5 deficiency (CFHR5D)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA progressive disease characterized by glomerulonephritis, hematuria, renal failure, end-stage renal disease, subendothelial and mesangial glomerular C3 deposits, mesangial matrix expansion, increased glomerular cellularity, and segmental capillary wall thickening. Hematuria may become apparent after respiratory infections.
Related information in OMIMKeywords - Diseasei
Disease variant, Hemolytic uremic syndromeOrganism-specific databases
DisGeNETi | 81494 |
GeneReviewsi | CFHR5 |
MalaCardsi | CFHR5 |
MIMi | 614809, phenotype |
OpenTargetsi | ENSG00000134389 |
Orphaneti | 93581, Atypical hemolytic uremic syndrome with anti-factor H antibodies 329931, C3 glomerulonephritis |
PharmGKBi | PA134937417 |
Miscellaneous databases
Pharosi | Q9BXR6, Tbio |
Genetic variation databases
BioMutai | CFHR5 |
DMDMi | 23396597 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 18 | Sequence analysisAdd BLAST | 18 | |
ChainiPRO_0000005900 | 19 – 569 | Complement factor H-related protein 5Add BLAST | 551 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 23 ↔ 72 | PROSITE-ProRule annotation | ||
Disulfide bondi | 55 ↔ 83 | PROSITE-ProRule annotation | ||
Disulfide bondi | 87 ↔ 129 | PROSITE-ProRule annotation | ||
Disulfide bondi | 114 ↔ 140 | PROSITE-ProRule annotation | ||
Glycosylationi | 126 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 147 ↔ 189 | PROSITE-ProRule annotation | ||
Disulfide bondi | 175 ↔ 201 | PROSITE-ProRule annotation | ||
Disulfide bondi | 208 ↔ 251 | PROSITE-ProRule annotation | ||
Disulfide bondi | 237 ↔ 262 | PROSITE-ProRule annotation | ||
Disulfide bondi | 269 ↔ 311 | PROSITE-ProRule annotation | ||
Disulfide bondi | 297 ↔ 322 | PROSITE-ProRule annotation | ||
Disulfide bondi | 331 ↔ 370 | PROSITE-ProRule annotation | ||
Disulfide bondi | 359 ↔ 381 | PROSITE-ProRule annotation | ||
Disulfide bondi | 389 ↔ 431 | PROSITE-ProRule annotation | ||
Glycosylationi | 400 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 417 ↔ 442 | PROSITE-ProRule annotation | ||
Disulfide bondi | 449 ↔ 492 | PROSITE-ProRule annotation | ||
Disulfide bondi | 478 ↔ 503 | PROSITE-ProRule annotation | ||
Disulfide bondi | 507 ↔ 558 | PROSITE-ProRule annotation | ||
Disulfide bondi | 541 ↔ 568 | PROSITE-ProRule annotation |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
jPOSTi | Q9BXR6 |
MassIVEi | Q9BXR6 |
PaxDbi | Q9BXR6 |
PeptideAtlasi | Q9BXR6 |
PRIDEi | Q9BXR6 |
ProteomicsDBi | 79486 |
PTM databases
GlyConnecti | 1155, 3 N-Linked glycans (2 sites) |
GlyGeni | Q9BXR6, 3 sites, 2 O-linked glycans (1 site) |
iPTMneti | Q9BXR6 |
PhosphoSitePlusi | Q9BXR6 |
Expressioni
Tissue specificityi
Expressed by the liver and secreted in plasma.
Gene expression databases
Bgeei | ENSG00000134389, Expressed in liver and 15 other tissues |
Genevisiblei | Q9BXR6, HS |
Organism-specific databases
HPAi | ENSG00000134389, Tissue enriched (liver) |
Interactioni
Subunit structurei
Head-to-tail homodimer and heterodimer with CFHR1 or CFHR2. Binds C3b in vitro.
1 PublicationBinary interactionsi
Hide detailsQ9BXR6
Complement factor H-related protein 5 (PRO_0000005900)
With | #Exp. | IntAct |
---|---|---|
CRP [P02741] | 5 | EBI-22114654,EBI-1395983 |
GO - Molecular functioni
- identical protein binding Source: UniProtKB
- protein heterodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 123503, 22 interactors |
IntActi | Q9BXR6, 22 interactors |
STRINGi | 9606.ENSP00000256785 |
Miscellaneous databases
RNActi | Q9BXR6, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 23 – 83 | Sushi 1PROSITE-ProRule annotationAdd BLAST | 61 | |
Domaini | 85 – 142 | Sushi 2PROSITE-ProRule annotationAdd BLAST | 58 | |
Domaini | 145 – 203 | Sushi 3PROSITE-ProRule annotationAdd BLAST | 59 | |
Domaini | 206 – 264 | Sushi 4PROSITE-ProRule annotationAdd BLAST | 59 | |
Domaini | 267 – 324 | Sushi 5PROSITE-ProRule annotationAdd BLAST | 58 | |
Domaini | 329 – 383 | Sushi 6PROSITE-ProRule annotationAdd BLAST | 55 | |
Domaini | 387 – 444 | Sushi 7PROSITE-ProRule annotationAdd BLAST | 58 | |
Domaini | 447 – 505 | Sushi 8PROSITE-ProRule annotationAdd BLAST | 59 | |
Domaini | 507 – 569 | Sushi 9PROSITE-ProRule annotationAdd BLAST | 63 |
Keywords - Domaini
Repeat, Signal, SushiPhylogenomic databases
eggNOGi | ENOG502RTVY, Eukaryota |
GeneTreei | ENSGT00940000154386 |
HOGENOMi | CLU_020107_6_0_1 |
InParanoidi | Q9BXR6 |
OMAi | CINGIWT |
OrthoDBi | 296899at2759 |
PhylomeDBi | Q9BXR6 |
TreeFami | TF326157 |
Family and domain databases
CDDi | cd00033, CCP, 6 hits |
InterProi | View protein in InterPro IPR035976, Sushi/SCR/CCP_sf IPR000436, Sushi_SCR_CCP_dom |
Pfami | View protein in Pfam PF00084, Sushi, 7 hits |
SMARTi | View protein in SMART SM00032, CCP, 9 hits |
SUPFAMi | SSF57535, SSF57535, 8 hits |
PROSITEi | View protein in PROSITE PS50923, SUSHI, 7 hits |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
Q9BXR6-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MLLLFSVILI SWVSTVGGEG TLCDFPKIHH GFLYDEEDYN PFSQVPTGEV
60 70 80 90 100
FYYSCEYNFV SPSKSFWTRI TCTEEGWSPT PKCLRMCSFP FVKNGHSESS
110 120 130 140 150
GLIHLEGDTV QIICNTGYSL QNNEKNISCV ERGWSTPPIC SFTKGECHVP
160 170 180 190 200
ILEANVDAQP KKESYKVGDV LKFSCRKNLI RVGSDSVQCY QFGWSPNFPT
210 220 230 240 250
CKGQVRSCGP PPQLSNGEVK EIRKEEYGHN EVVEYDCNPN FIINGPKKIQ
260 270 280 290 300
CVDGEWTTLP TCVEQVKTCG YIPELEYGYV QPSVPPYQHG VSVEVNCRNE
310 320 330 340 350
YAMIGNNMIT CINGIWTELP MCVATHQLKR CKIAGVNIKT LLKLSGKEFN
360 370 380 390 400
HNSRIRYRCS DIFRYRHSVC INGKWNPEVD CTEKREQFCP PPPQIPNAQN
410 420 430 440 450
MTTTVNYQDG EKVAVLCKEN YLLPEAKEIV CKDGRWQSLP RCVESTAYCG
460 470 480 490 500
PPPSINNGDT TSFPLSVYPP GSTVTYRCQS FYKLQGSVTV TCRNKQWSEP
510 520 530 540 550
PRCLDPCVVS EENMNKNNIQ LKWRNDGKLY AKTGDAVEFQ CKFPHKAMIS
560
SPPFRAICQE GKFEYPICE
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_048818 | 46 | P → S. Corresponds to variant dbSNP:rs12097550EnsemblClinVar. | 1 | |
Natural variantiVAR_069090 | 105 | L → R Found in patients with atypical hemolytic uremic syndrome. 1 PublicationCorresponds to variant dbSNP:rs318240754EnsemblClinVar. | 1 | |
Natural variantiVAR_069091 | 195 | S → T Found in patients with atypical hemolytic uremic syndrome. 1 PublicationCorresponds to variant dbSNP:rs318240755EnsemblClinVar. | 1 | |
Natural variantiVAR_035827 | 216 | N → S in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs147488267EnsemblClinVar. | 1 | |
Natural variantiVAR_063652 | 277 | Y → N Found in a patient with atypical hemolytic uremic syndrome. 1 PublicationCorresponds to variant dbSNP:rs318240756EnsemblClinVar. | 1 | |
Natural variantiVAR_048819 | 356 | R → H. Corresponds to variant dbSNP:rs35662416EnsemblClinVar. | 1 | |
Natural variantiVAR_063653 | 379 | V → L Found in patients with atypical hemolytic uremic syndrome. 1 PublicationCorresponds to variant dbSNP:rs111327589EnsemblClinVar. | 1 | |
Natural variantiVAR_069092 | 436 | W → C Found in patients with atypical hemolytic uremic syndrome. 1 PublicationCorresponds to variant dbSNP:rs201265664EnsemblClinVar. | 1 | |
Natural variantiVAR_048820 | 521 | L → I. Corresponds to variant dbSNP:rs35957013EnsemblClinVar. | 1 | |
Natural variantiVAR_048821 | 529 | L → R. Corresponds to variant dbSNP:rs16840956EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF295327 mRNA Translation: AAK15619.1 BC111773 mRNA Translation: AAI11774.1 |
CCDSi | CCDS1387.1 |
RefSeqi | NP_110414.1, NM_030787.3 |
Genome annotation databases
Ensembli | ENST00000256785; ENSP00000256785; ENSG00000134389 |
GeneIDi | 81494 |
KEGGi | hsa:81494 |
UCSCi | uc001gts.5, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF295327 mRNA Translation: AAK15619.1 BC111773 mRNA Translation: AAI11774.1 |
CCDSi | CCDS1387.1 |
RefSeqi | NP_110414.1, NM_030787.3 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 123503, 22 interactors |
IntActi | Q9BXR6, 22 interactors |
STRINGi | 9606.ENSP00000256785 |
PTM databases
GlyConnecti | 1155, 3 N-Linked glycans (2 sites) |
GlyGeni | Q9BXR6, 3 sites, 2 O-linked glycans (1 site) |
iPTMneti | Q9BXR6 |
PhosphoSitePlusi | Q9BXR6 |
Genetic variation databases
BioMutai | CFHR5 |
DMDMi | 23396597 |
Proteomic databases
jPOSTi | Q9BXR6 |
MassIVEi | Q9BXR6 |
PaxDbi | Q9BXR6 |
PeptideAtlasi | Q9BXR6 |
PRIDEi | Q9BXR6 |
ProteomicsDBi | 79486 |
Protocols and materials databases
Antibodypediai | 34475, 193 antibodies |
Genome annotation databases
Ensembli | ENST00000256785; ENSP00000256785; ENSG00000134389 |
GeneIDi | 81494 |
KEGGi | hsa:81494 |
UCSCi | uc001gts.5, human |
Organism-specific databases
CTDi | 81494 |
DisGeNETi | 81494 |
GeneCardsi | CFHR5 |
GeneReviewsi | CFHR5 |
HGNCi | HGNC:24668, CFHR5 |
HPAi | ENSG00000134389, Tissue enriched (liver) |
MalaCardsi | CFHR5 |
MIMi | 608593, gene 614809, phenotype |
neXtProti | NX_Q9BXR6 |
OpenTargetsi | ENSG00000134389 |
Orphaneti | 93581, Atypical hemolytic uremic syndrome with anti-factor H antibodies 329931, C3 glomerulonephritis |
PharmGKBi | PA134937417 |
VEuPathDBi | HostDB:ENSG00000134389.9 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502RTVY, Eukaryota |
GeneTreei | ENSGT00940000154386 |
HOGENOMi | CLU_020107_6_0_1 |
InParanoidi | Q9BXR6 |
OMAi | CINGIWT |
OrthoDBi | 296899at2759 |
PhylomeDBi | Q9BXR6 |
TreeFami | TF326157 |
Enzyme and pathway databases
PathwayCommonsi | Q9BXR6 |
Reactomei | R-HSA-977606, Regulation of Complement cascade |
Miscellaneous databases
BioGRID-ORCSi | 81494, 5 hits in 978 CRISPR screens |
GeneWikii | CFHR5 |
GenomeRNAii | 81494 |
Pharosi | Q9BXR6, Tbio |
PROi | PR:Q9BXR6 |
RNActi | Q9BXR6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000134389, Expressed in liver and 15 other tissues |
Genevisiblei | Q9BXR6, HS |
Family and domain databases
CDDi | cd00033, CCP, 6 hits |
InterProi | View protein in InterPro IPR035976, Sushi/SCR/CCP_sf IPR000436, Sushi_SCR_CCP_dom |
Pfami | View protein in Pfam PF00084, Sushi, 7 hits |
SMARTi | View protein in SMART SM00032, CCP, 9 hits |
SUPFAMi | SSF57535, SSF57535, 8 hits |
PROSITEi | View protein in PROSITE PS50923, SUSHI, 7 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | FHR5_HUMAN | |
Accessioni | Q9BXR6Primary (citable) accession number: Q9BXR6 Secondary accession number(s): Q2NKK2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 19, 2002 |
Last sequence update: | June 1, 2001 | |
Last modified: | April 7, 2021 | |
This is version 155 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot