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Q9BXR6 (FHR5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 102. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Complement factor H-related protein 5

Short name=FHR-5
Gene names
Name:CFHR5
Synonyms:CFHL5, FHR5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length569 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Involved in complement regulation.

Subunit structure

Binds C3b in vitro.

Subcellular location

Secreted.

Tissue specificity

Expressed by the liver and secreted in plasma.

Involvement in disease

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) [MIM:614809]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3 Ref.4

Sequence similarities

Contains 9 Sushi (CCP/SCR) domains.

Ontologies

Keywords
   Cellular componentSecreted
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
Hemolytic uremic syndrome
   DomainRepeat
Signal
Sushi
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processcomplement activation, alternative pathway

Non-traceable author statement Ref.1. Source: UniProtKB

   Cellular_componentextracellular region

Non-traceable author statement Ref.1. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1818 Potential
Chain19 – 569551Complement factor H-related protein 5
PRO_0000005900

Regions

Domain23 – 8361Sushi 1
Domain85 – 14258Sushi 2
Domain145 – 20359Sushi 3
Domain206 – 26459Sushi 4
Domain267 – 32458Sushi 5
Domain329 – 38355Sushi 6
Domain387 – 44458Sushi 7
Domain447 – 50559Sushi 8
Domain507 – 56963Sushi 9

Amino acid modifications

Glycosylation1261N-linked (GlcNAc...) Potential
Glycosylation4001N-linked (GlcNAc...) Potential
Disulfide bond23 ↔ 72 By similarity
Disulfide bond55 ↔ 83 By similarity
Disulfide bond87 ↔ 129 By similarity
Disulfide bond114 ↔ 140 By similarity
Disulfide bond147 ↔ 189 By similarity
Disulfide bond175 ↔ 201 By similarity
Disulfide bond208 ↔ 251 By similarity
Disulfide bond237 ↔ 262 By similarity
Disulfide bond269 ↔ 311 By similarity
Disulfide bond297 ↔ 322 By similarity
Disulfide bond331 ↔ 370 By similarity
Disulfide bond359 ↔ 381 By similarity
Disulfide bond389 ↔ 431 By similarity
Disulfide bond417 ↔ 442 By similarity
Disulfide bond449 ↔ 492 By similarity
Disulfide bond478 ↔ 503 By similarity
Disulfide bond507 ↔ 558 By similarity
Disulfide bond541 ↔ 568 By similarity

Natural variations

Natural variant461P → S.
Corresponds to variant rs12097550 [ dbSNP | Ensembl ].
VAR_048818
Natural variant1051L → R Found in patients with atypical hemolytic uremic syndrome. Ref.7
Corresponds to variant rs318240754 [ dbSNP | Ensembl ].
VAR_069090
Natural variant1951S → T Found in patients with atypical hemolytic uremic syndrome. Ref.7
Corresponds to variant rs318240755 [ dbSNP | Ensembl ].
VAR_069091
Natural variant2161N → S in a breast cancer sample; somatic mutation. Ref.5
VAR_035827
Natural variant2771Y → N Found in a patient with atypical hemolytic uremic syndrome. Ref.6
Corresponds to variant rs318240756 [ dbSNP | Ensembl ].
VAR_063652
Natural variant3561R → H.
Corresponds to variant rs35662416 [ dbSNP | Ensembl ].
VAR_048819
Natural variant3791V → L Found in patients with atypical hemolytic uremic syndrome. Ref.6
Corresponds to variant rs111327589 [ dbSNP | Ensembl ].
VAR_063653
Natural variant4361W → C Found in patients with atypical hemolytic uremic syndrome. Ref.7
Corresponds to variant rs201265664 [ dbSNP | Ensembl ].
VAR_069092
Natural variant5211L → I.
Corresponds to variant rs35957013 [ dbSNP | Ensembl ].
VAR_048820
Natural variant5291L → R.
Corresponds to variant rs16840956 [ dbSNP | Ensembl ].
VAR_048821

Sequences

Sequence LengthMass (Da)Tools
Q9BXR6 [UniParc].

Last modified June 1, 2001. Version 1.
Checksum: 7FAAE31707B0C112

FASTA56964,419
        10         20         30         40         50         60 
MLLLFSVILI SWVSTVGGEG TLCDFPKIHH GFLYDEEDYN PFSQVPTGEV FYYSCEYNFV 

        70         80         90        100        110        120 
SPSKSFWTRI TCTEEGWSPT PKCLRMCSFP FVKNGHSESS GLIHLEGDTV QIICNTGYSL 

       130        140        150        160        170        180 
QNNEKNISCV ERGWSTPPIC SFTKGECHVP ILEANVDAQP KKESYKVGDV LKFSCRKNLI 

       190        200        210        220        230        240 
RVGSDSVQCY QFGWSPNFPT CKGQVRSCGP PPQLSNGEVK EIRKEEYGHN EVVEYDCNPN 

       250        260        270        280        290        300 
FIINGPKKIQ CVDGEWTTLP TCVEQVKTCG YIPELEYGYV QPSVPPYQHG VSVEVNCRNE 

       310        320        330        340        350        360 
YAMIGNNMIT CINGIWTELP MCVATHQLKR CKIAGVNIKT LLKLSGKEFN HNSRIRYRCS 

       370        380        390        400        410        420 
DIFRYRHSVC INGKWNPEVD CTEKREQFCP PPPQIPNAQN MTTTVNYQDG EKVAVLCKEN 

       430        440        450        460        470        480 
YLLPEAKEIV CKDGRWQSLP RCVESTAYCG PPPSINNGDT TSFPLSVYPP GSTVTYRCQS 

       490        500        510        520        530        540 
FYKLQGSVTV TCRNKQWSEP PRCLDPCVVS EENMNKNNIQ LKWRNDGKLY AKTGDAVEFQ 

       550        560 
CKFPHKAMIS SPPFRAICQE GKFEYPICE 

« Hide

References

« Hide 'large scale' references
[1]"Human factor H-related protein 5 (FHR-5). A new complement-associated protein."
McRae J.L., Cowan P.J., Power D.A., Mitchelhill K.I., Kemp B.E., Morgan B.P., Murphy B.F.
J. Biol. Chem. 276:6747-6754(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], PARTIAL PROTEIN SEQUENCE.
Tissue: Liver.
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]"Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis."
Gale D.P., de Jorge E.G., Cook H.T., Martinez-Barricarte R., Hadjisavvas A., McLean A.G., Pusey C.D., Pierides A., Kyriacou K., Athanasiou Y., Voskarides K., Deltas C., Palmer A., Fremeaux-Bacchi V., de Cordoba S.R., Maxwell P.H., Pickering M.C.
Lancet 376:794-801(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN CFHR5D.
[4]"Acute presentation and persistent glomerulonephritis following streptococcal infection in a patient with heterozygous complement factor H-related protein 5 deficiency."
Vernon K.A., Goicoechea de Jorge E., Hall A.E., Fremeaux-Bacchi V., Aitman T.J., Cook H.T., Hangartner R., Koziell A., Pickering M.C.
Am. J. Kidney Dis. 60:121-125(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN CFHR5D.
[5]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] SER-216.
[6]"Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome."
Maga T.K., Nishimura C.J., Weaver A.E., Frees K.L., Smith R.J.H.
Hum. Mutat. 31:E1445-E1460(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ASN-277 AND LEU-379, POSSIBLE INVOLVEMENT IN ATYPICAL HEMOLYTIC UREMIC SYNDROME.
[7]"Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene."
Westra D., Vernon K.A., Volokhina E.B., Pickering M.C., van de Kar N.C., van den Heuvel L.P.
J. Hum. Genet. 57:459-464(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ARG-105; THR-195 AND CYS-436, POSSIBLE INVOLVEMENT IN ATYPICAL HEMOLYTIC UREMIC SYNDROME.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF295327 mRNA. Translation: AAK15619.1.
BC111773 mRNA. Translation: AAI11774.1.
RefSeqNP_110414.1. NM_030787.3.
UniGeneHs.282594.

3D structure databases

ProteinModelPortalQ9BXR6.
SMRQ9BXR6. Positions 12-569.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123503. 1 interaction.
STRING9606.ENSP00000256785.

PTM databases

PhosphoSiteQ9BXR6.

Polymorphism databases

DMDM23396597.

Proteomic databases

PaxDbQ9BXR6.
PRIDEQ9BXR6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000256785; ENSP00000256785; ENSG00000134389.
GeneID81494.
KEGGhsa:81494.
UCSCuc001gts.4. human.

Organism-specific databases

CTD81494.
GeneCardsGC01P196946.
HGNCHGNC:24668. CFHR5.
HPAHPA038915.
HPA040726.
MIM608593. gene.
614809. phenotype.
neXtProtNX_Q9BXR6.
Orphanet93581. Atypical hemolytic uremic syndrome with anti-factor H antibodies.
329931. C3 glomerulonephritis.
PharmGKBPA134937417.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG147668.
HOGENOMHOG000049040.
HOVERGENHBG005665.
InParanoidQ9BXR6.
OrthoDBEOG75XGK1.
PhylomeDBQ9BXR6.
TreeFamTF326157.

Gene expression databases

ArrayExpressQ9BXR6.
BgeeQ9BXR6.
CleanExHS_CFHR5.
GenevestigatorQ9BXR6.

Family and domain databases

InterProIPR000436. Sushi_SCR_CCP.
[Graphical view]
PfamPF00084. Sushi. 8 hits.
[Graphical view]
SMARTSM00032. CCP. 9 hits.
[Graphical view]
SUPFAMSSF57535. SSF57535. 8 hits.
PROSITEPS50923. SUSHI. 7 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCFHR5.
GenomeRNAi81494.
NextBio71738.
PROQ9BXR6.
SOURCESearch...

Entry information

Entry nameFHR5_HUMAN
AccessionPrimary (citable) accession number: Q9BXR6
Secondary accession number(s): Q2NKK2
Entry history
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: June 1, 2001
Last modified: March 19, 2014
This is version 102 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM