Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q9BXR6

- FHR5_HUMAN

UniProt

Q9BXR6 - FHR5_HUMAN

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
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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

    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

    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

    ArrayExpressiQ9BXR6.
    BgeeiQ9BXR6.
    CleanExiHS_CFHR5.
    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.
    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.

    Q9BXR6-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLLLFSVILI SWVSTVGGEG TLCDFPKIHH GFLYDEEDYN PFSQVPTGEV    50
    FYYSCEYNFV SPSKSFWTRI TCTEEGWSPT PKCLRMCSFP FVKNGHSESS 100
    GLIHLEGDTV QIICNTGYSL QNNEKNISCV ERGWSTPPIC SFTKGECHVP 150
    ILEANVDAQP KKESYKVGDV LKFSCRKNLI RVGSDSVQCY QFGWSPNFPT 200
    CKGQVRSCGP PPQLSNGEVK EIRKEEYGHN EVVEYDCNPN FIINGPKKIQ 250
    CVDGEWTTLP TCVEQVKTCG YIPELEYGYV QPSVPPYQHG VSVEVNCRNE 300
    YAMIGNNMIT CINGIWTELP MCVATHQLKR CKIAGVNIKT LLKLSGKEFN 350
    HNSRIRYRCS DIFRYRHSVC INGKWNPEVD CTEKREQFCP PPPQIPNAQN 400
    MTTTVNYQDG EKVAVLCKEN YLLPEAKEIV CKDGRWQSLP RCVESTAYCG 450
    PPPSINNGDT TSFPLSVYPP GSTVTYRCQS FYKLQGSVTV TCRNKQWSEP 500
    PRCLDPCVVS EENMNKNNIQ LKWRNDGKLY AKTGDAVEFQ CKFPHKAMIS 550
    SPPFRAICQE GKFEYPICE 569
    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.
    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

    ArrayExpressi Q9BXR6.
    Bgeei Q9BXR6.
    CleanExi HS_CFHR5.
    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

    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 1, 2014
    This is version 106 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