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Protein

Complement factor H-related protein 5

Gene

CFHR5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.1 Publication

GO - Biological processi

  • complement activation, alternative pathway Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000134389-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Complement factor H-related protein 5
Short name:
FHR-5
Gene namesi
Name:CFHR5
Synonyms:CFHL5, FHR5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:24668. CFHR5.

Subcellular locationi

GO - Cellular componenti

  • extracellular region Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & 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.

CFHR5 deficiency (CFHR5D)2 Publications
The disease is caused by mutations 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.
See also OMIM:614809

Keywords - Diseasei

Disease mutation, Hemolytic uremic syndrome

Organism-specific databases

DisGeNETi81494.
MalaCardsiCFHR5.
MIMi614809. phenotype.
OpenTargetsiENSG00000134389.
Orphaneti93581. Atypical hemolytic-uremic syndrome with anti-factor H antibodies.
329931. C3 glomerulonephritis.
PharmGKBiPA134937417.

Polymorphism and mutation databases

BioMutaiCFHR5.
DMDMi23396597.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
ChainiPRO_000000590019 – 569Complement factor H-related protein 5Add BLAST551

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi23 ↔ 72PROSITE-ProRule annotation
Disulfide bondi55 ↔ 83PROSITE-ProRule annotation
Disulfide bondi87 ↔ 129PROSITE-ProRule annotation
Disulfide bondi114 ↔ 140PROSITE-ProRule annotation
Glycosylationi126N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi147 ↔ 189PROSITE-ProRule annotation
Disulfide bondi175 ↔ 201PROSITE-ProRule annotation
Disulfide bondi208 ↔ 251PROSITE-ProRule annotation
Disulfide bondi237 ↔ 262PROSITE-ProRule annotation
Disulfide bondi269 ↔ 311PROSITE-ProRule annotation
Disulfide bondi297 ↔ 322PROSITE-ProRule annotation
Disulfide bondi331 ↔ 370PROSITE-ProRule annotation
Disulfide bondi359 ↔ 381PROSITE-ProRule annotation
Disulfide bondi389 ↔ 431PROSITE-ProRule annotation
Glycosylationi400N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi417 ↔ 442PROSITE-ProRule annotation
Disulfide bondi449 ↔ 492PROSITE-ProRule annotation
Disulfide bondi478 ↔ 503PROSITE-ProRule annotation
Disulfide bondi507 ↔ 558PROSITE-ProRule annotation
Disulfide bondi541 ↔ 568PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9BXR6.
PeptideAtlasiQ9BXR6.
PRIDEiQ9BXR6.

PTM databases

iPTMnetiQ9BXR6.
PhosphoSitePlusiQ9BXR6.

Expressioni

Tissue specificityi

Expressed by the liver and secreted in plasma.

Gene expression databases

BgeeiENSG00000134389.
CleanExiHS_CFHR5.
GenevisibleiQ9BXR6. HS.

Organism-specific databases

HPAiHPA038915.
HPA040726.

Interactioni

Subunit structurei

Head-to-tail homodimer and heterodimer with CFHR1 or CFHR2. Binds C3b in vitro.1 Publication

Protein-protein interaction databases

BioGridi123503. 1 interactor.
STRINGi9606.ENSP00000256785.

Structurei

3D structure databases

ProteinModelPortaliQ9BXR6.
SMRiQ9BXR6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini23 – 83Sushi 1PROSITE-ProRule annotationAdd BLAST61
Domaini85 – 142Sushi 2PROSITE-ProRule annotationAdd BLAST58
Domaini145 – 203Sushi 3PROSITE-ProRule annotationAdd BLAST59
Domaini206 – 264Sushi 4PROSITE-ProRule annotationAdd BLAST59
Domaini267 – 324Sushi 5PROSITE-ProRule annotationAdd BLAST58
Domaini329 – 383Sushi 6PROSITE-ProRule annotationAdd BLAST55
Domaini387 – 444Sushi 7PROSITE-ProRule annotationAdd BLAST58
Domaini447 – 505Sushi 8PROSITE-ProRule annotationAdd BLAST59
Domaini507 – 569Sushi 9PROSITE-ProRule annotationAdd BLAST63

Sequence similaritiesi

Contains 9 Sushi (CCP/SCR) domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Sushi

Phylogenomic databases

eggNOGiENOG410IVVM. Eukaryota.
ENOG41115RN. LUCA.
GeneTreeiENSGT00850000132282.
HOGENOMiHOG000049040.
HOVERGENiHBG005665.
InParanoidiQ9BXR6.
OMAiCVATHQL.
OrthoDBiEOG091G00V4.
PhylomeDBiQ9BXR6.
TreeFamiTF326157.

Family and domain databases

CDDicd00033. CCP. 6 hits.
InterProiIPR000436. Sushi_SCR_CCP_dom.
[Graphical view]
PfamiPF00084. Sushi. 7 hits.
[Graphical view]
SMARTiSM00032. CCP. 9 hits.
[Graphical view]
SUPFAMiSSF57535. SSF57535. 8 hits.
PROSITEiPS50923. SUSHI. 7 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Q9BXR6-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:569
Mass (Da):64,419
Last modified:June 1, 2001 - v1
Checksum:i7FAAE31707B0C112
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04881846P → S.Corresponds to variant rs12097550dbSNPEnsembl.1
Natural variantiVAR_069090105L → R Found in patients with atypical hemolytic uremic syndrome. 1 PublicationCorresponds to variant rs318240754dbSNPEnsembl.1
Natural variantiVAR_069091195S → T Found in patients with atypical hemolytic uremic syndrome. 1 PublicationCorresponds to variant rs318240755dbSNPEnsembl.1
Natural variantiVAR_035827216N → S in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs147488267dbSNPEnsembl.1
Natural variantiVAR_063652277Y → N Found in a patient with atypical hemolytic uremic syndrome. 1 PublicationCorresponds to variant rs318240756dbSNPEnsembl.1
Natural variantiVAR_048819356R → H.Corresponds to variant rs35662416dbSNPEnsembl.1
Natural variantiVAR_063653379V → L Found in patients with atypical hemolytic uremic syndrome. 1 PublicationCorresponds to variant rs111327589dbSNPEnsembl.1
Natural variantiVAR_069092436W → C Found in patients with atypical hemolytic uremic syndrome. 1 PublicationCorresponds to variant rs201265664dbSNPEnsembl.1
Natural variantiVAR_048820521L → I.Corresponds to variant rs35957013dbSNPEnsembl.1
Natural variantiVAR_048821529L → R.Corresponds to variant rs16840956dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF295327 mRNA. Translation: AAK15619.1.
BC111773 mRNA. Translation: AAI11774.1.
CCDSiCCDS1387.1.
RefSeqiNP_110414.1. NM_030787.3.
UniGeneiHs.282594.

Genome annotation databases

EnsembliENST00000256785; ENSP00000256785; ENSG00000134389.
GeneIDi81494.
KEGGihsa:81494.
UCSCiuc001gts.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF295327 mRNA. Translation: AAK15619.1.
BC111773 mRNA. Translation: AAI11774.1.
CCDSiCCDS1387.1.
RefSeqiNP_110414.1. NM_030787.3.
UniGeneiHs.282594.

3D structure databases

ProteinModelPortaliQ9BXR6.
SMRiQ9BXR6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123503. 1 interactor.
STRINGi9606.ENSP00000256785.

PTM databases

iPTMnetiQ9BXR6.
PhosphoSitePlusiQ9BXR6.

Polymorphism and mutation databases

BioMutaiCFHR5.
DMDMi23396597.

Proteomic databases

PaxDbiQ9BXR6.
PeptideAtlasiQ9BXR6.
PRIDEiQ9BXR6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000256785; ENSP00000256785; ENSG00000134389.
GeneIDi81494.
KEGGihsa:81494.
UCSCiuc001gts.5. human.

Organism-specific databases

CTDi81494.
DisGeNETi81494.
GeneCardsiCFHR5.
GeneReviewsiCFHR5.
HGNCiHGNC:24668. CFHR5.
HPAiHPA038915.
HPA040726.
MalaCardsiCFHR5.
MIMi608593. gene.
614809. phenotype.
neXtProtiNX_Q9BXR6.
OpenTargetsiENSG00000134389.
Orphaneti93581. Atypical hemolytic-uremic syndrome with anti-factor H antibodies.
329931. C3 glomerulonephritis.
PharmGKBiPA134937417.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IVVM. Eukaryota.
ENOG41115RN. LUCA.
GeneTreeiENSGT00850000132282.
HOGENOMiHOG000049040.
HOVERGENiHBG005665.
InParanoidiQ9BXR6.
OMAiCVATHQL.
OrthoDBiEOG091G00V4.
PhylomeDBiQ9BXR6.
TreeFamiTF326157.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000134389-MONOMER.

Miscellaneous databases

GeneWikiiCFHR5.
GenomeRNAii81494.
PROiQ9BXR6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000134389.
CleanExiHS_CFHR5.
GenevisibleiQ9BXR6. HS.

Family and domain databases

CDDicd00033. CCP. 6 hits.
InterProiIPR000436. Sushi_SCR_CCP_dom.
[Graphical view]
PfamiPF00084. Sushi. 7 hits.
[Graphical view]
SMARTiSM00032. CCP. 9 hits.
[Graphical view]
SUPFAMiSSF57535. SSF57535. 8 hits.
PROSITEiPS50923. SUSHI. 7 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFHR5_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 125 of the entry and version 1 of the sequence. [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

Complete proteome, Direct protein sequencing, 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.