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Q9BXR6

- FHR5_HUMAN

UniProt

Q9BXR6 - FHR5_HUMAN

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Protein

Complement factor H-related protein 5

Gene

CFHR5

Organism
Homo sapiens (Human)
Status
Reviewed - 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

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

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
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:24668. CFHR5.

Subcellular locationi

GO - Cellular componenti

  1. 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.2 Publications
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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Disease mutation, Hemolytic uremic syndrome

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1818Sequence AnalysisAdd
BLAST
Chaini19 – 569551Complement factor H-related protein 5PRO_0000005900Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi23 ↔ 72PROSITE-ProRule annotation
Disulfide bondi55 ↔ 83PROSITE-ProRule annotation
Disulfide bondi87 ↔ 129PROSITE-ProRule annotation
Disulfide bondi114 ↔ 140PROSITE-ProRule annotation
Glycosylationi126 – 1261N-linked (GlcNAc...)Sequence Analysis
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
Glycosylationi400 – 4001N-linked (GlcNAc...)Sequence Analysis
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.
PRIDEiQ9BXR6.

PTM databases

PhosphoSiteiQ9BXR6.

Expressioni

Tissue specificityi

Expressed by the liver and secreted in plasma.

Gene expression databases

BgeeiQ9BXR6.
CleanExiHS_CFHR5.
ExpressionAtlasiQ9BXR6. baseline and differential.
GenevestigatoriQ9BXR6.

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 interaction.
STRINGi9606.ENSP00000256785.

Structurei

3D structure databases

ProteinModelPortaliQ9BXR6.
SMRiQ9BXR6. Positions 19-382, 389-569.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini23 – 8361Sushi 1PROSITE-ProRule annotationAdd
BLAST
Domaini85 – 14258Sushi 2PROSITE-ProRule annotationAdd
BLAST
Domaini145 – 20359Sushi 3PROSITE-ProRule annotationAdd
BLAST
Domaini206 – 26459Sushi 4PROSITE-ProRule annotationAdd
BLAST
Domaini267 – 32458Sushi 5PROSITE-ProRule annotationAdd
BLAST
Domaini329 – 38355Sushi 6PROSITE-ProRule annotationAdd
BLAST
Domaini387 – 44458Sushi 7PROSITE-ProRule annotationAdd
BLAST
Domaini447 – 50559Sushi 8PROSITE-ProRule annotationAdd
BLAST
Domaini507 – 56963Sushi 9PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

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

Keywords - Domaini

Repeat, Signal, Sushi

Phylogenomic databases

eggNOGiNOG147668.
GeneTreeiENSGT00760000118803.
HOGENOMiHOG000049040.
HOVERGENiHBG005665.
InParanoidiQ9BXR6.
OrthoDBiEOG75XGK1.
PhylomeDBiQ9BXR6.
TreeFamiTF326157.

Family and domain databases

InterProiIPR000436. Sushi_SCR_CCP.
[Graphical view]
PfamiPF00084. Sushi. 8 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 [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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti46 – 461P → S.
Corresponds to variant rs12097550 [ dbSNP | Ensembl ].
VAR_048818
Natural varianti105 – 1051L → R Found in patients with atypical hemolytic uremic syndrome. 1 Publication
Corresponds to variant rs318240754 [ dbSNP | Ensembl ].
VAR_069090
Natural varianti195 – 1951S → T Found in patients with atypical hemolytic uremic syndrome. 1 Publication
Corresponds to variant rs318240755 [ dbSNP | Ensembl ].
VAR_069091
Natural varianti216 – 2161N → S in a breast cancer sample; somatic mutation. 1 Publication
VAR_035827
Natural varianti277 – 2771Y → N Found in a patient with atypical hemolytic uremic syndrome. 1 Publication
Corresponds to variant rs318240756 [ dbSNP | Ensembl ].
VAR_063652
Natural varianti356 – 3561R → H.
Corresponds to variant rs35662416 [ dbSNP | Ensembl ].
VAR_048819
Natural varianti379 – 3791V → L Found in patients with atypical hemolytic uremic syndrome. 1 Publication
Corresponds to variant rs111327589 [ dbSNP | Ensembl ].
VAR_063653
Natural varianti436 – 4361W → C Found in patients with atypical hemolytic uremic syndrome. 1 Publication
Corresponds to variant rs201265664 [ dbSNP | Ensembl ].
VAR_069092
Natural varianti521 – 5211L → I.
Corresponds to variant rs35957013 [ dbSNP | Ensembl ].
VAR_048820
Natural varianti529 – 5291L → R.
Corresponds to variant rs16840956 [ dbSNP | Ensembl ].
VAR_048821

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.4. human.

Polymorphism databases

DMDMi23396597.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF295327 mRNA. Translation: AAK15619.1 .
BC111773 mRNA. Translation: AAI11774.1 .
CCDSi CCDS1387.1.
RefSeqi NP_110414.1. NM_030787.3.
UniGenei Hs.282594.

3D structure databases

ProteinModelPortali Q9BXR6.
SMRi Q9BXR6. Positions 19-382, 389-569.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123503. 1 interaction.
STRINGi 9606.ENSP00000256785.

PTM databases

PhosphoSitei Q9BXR6.

Polymorphism databases

DMDMi 23396597.

Proteomic databases

PaxDbi Q9BXR6.
PRIDEi Q9BXR6.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000256785 ; ENSP00000256785 ; ENSG00000134389 .
GeneIDi 81494.
KEGGi hsa:81494.
UCSCi uc001gts.4. human.

Organism-specific databases

CTDi 81494.
GeneCardsi GC01P196946.
GeneReviewsi CFHR5.
HGNCi HGNC:24668. CFHR5.
HPAi HPA038915.
HPA040726.
MIMi 608593. gene.
614809. phenotype.
neXtProti NX_Q9BXR6.
Orphaneti 93581. Atypical hemolytic-uremic syndrome with anti-factor H antibodies.
329931. C3 glomerulonephritis.
PharmGKBi PA134937417.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG147668.
GeneTreei ENSGT00760000118803.
HOGENOMi HOG000049040.
HOVERGENi HBG005665.
InParanoidi Q9BXR6.
OrthoDBi EOG75XGK1.
PhylomeDBi Q9BXR6.
TreeFami TF326157.

Miscellaneous databases

GeneWikii CFHR5.
GenomeRNAii 81494.
NextBioi 71738.
PROi Q9BXR6.
SOURCEi Search...

Gene expression databases

Bgeei Q9BXR6.
CleanExi HS_CFHR5.
ExpressionAtlasi Q9BXR6. baseline and differential.
Genevestigatori Q9BXR6.

Family and domain databases

InterProi IPR000436. Sushi_SCR_CCP.
[Graphical view ]
Pfami PF00084. Sushi. 8 hits.
[Graphical view ]
SMARTi SM00032. CCP. 9 hits.
[Graphical view ]
SUPFAMi SSF57535. SSF57535. 8 hits.
PROSITEi PS50923. SUSHI. 7 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. Cited for: FUNCTION, SUBUNIT.
  6. Cited for: VARIANT [LARGE SCALE ANALYSIS] SER-216.
  7. "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.
  8. "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.

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: October 29, 2014
This is version 107 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

External Data

Dasty 3