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Q02985

- FHR3_HUMAN

UniProt

Q02985 - FHR3_HUMAN

Protein

Complement factor H-related protein 3

Gene

CFHR3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 124 (01 Oct 2014)
      Sequence version 2 (21 Feb 2001)
      Previous versions | rss
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    Functioni

    Might be involved in complement regulation.

    Enzyme and pathway databases

    ReactomeiREACT_118707. Regulation of Complement cascade.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Complement factor H-related protein 3
    Short name:
    FHR-3
    Alternative name(s):
    DOWN16
    H factor-like protein 3
    Gene namesi
    Name:CFHR3
    Synonyms:CFHL3, FHR3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:16980. CFHR3.

    Subcellular locationi

    GO - Cellular componenti

    1. blood microparticle Source: UniProt
    2. extracellular space Source: ProtInc

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Organism-specific databases

    Orphaneti93581. Atypical hemolytic uremic syndrome with anti-factor H antibodies.
    PharmGKBiPA134909646.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1818Sequence AnalysisAdd
    BLAST
    Chaini19 – 330312Complement factor H-related protein 3PRO_0000005898Add
    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
    Glycosylationi108 – 1081N-linked (GlcNAc...)1 Publication
    Disulfide bondi114 ↔ 140PROSITE-ProRule annotation
    Disulfide bondi146 ↔ 192PROSITE-ProRule annotation
    Disulfide bondi175 ↔ 203PROSITE-ProRule annotation
    Glycosylationi185 – 1851N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi205 – 2051N-linked (GlcNAc...)1 Publication
    Disulfide bondi210 ↔ 253PROSITE-ProRule annotation
    Disulfide bondi239 ↔ 264PROSITE-ProRule annotation
    Disulfide bondi268 ↔ 319PROSITE-ProRule annotation
    Disulfide bondi302 ↔ 329PROSITE-ProRule annotation
    Glycosylationi309 – 3091N-linked (GlcNAc...)1 Publication

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ02985.
    PeptideAtlasiQ02985.
    PRIDEiQ02985.

    Expressioni

    Tissue specificityi

    Expressed by the liver and secreted in plasma.

    Gene expression databases

    ArrayExpressiQ02985.
    BgeeiQ02985.
    CleanExiHS_CFHR3.
    GenevestigatoriQ02985.

    Interactioni

    Protein-protein interaction databases

    BioGridi116086. 2 interactions.
    IntActiQ02985. 1 interaction.
    STRINGi9606.ENSP00000356395.

    Structurei

    3D structure databases

    ProteinModelPortaliQ02985.
    SMRiQ02985. Positions 20-330.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini22 – 8463Sushi 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini85 – 14258Sushi 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini144 – 20562Sushi 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini208 – 26659Sushi 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini267 – 33064Sushi 5PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 5 Sushi (CCP/SCR) domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Signal, Sushi

    Phylogenomic databases

    eggNOGiNOG146710.
    HOGENOMiHOG000049040.
    HOVERGENiHBG005665.
    InParanoidiQ02985.
    OMAiCIRINST.
    OrthoDBiEOG75XGK1.
    PhylomeDBiQ02985.
    TreeFamiTF326157.

    Family and domain databases

    InterProiIPR000436. Sushi_SCR_CCP.
    [Graphical view]
    PfamiPF00084. Sushi. 4 hits.
    [Graphical view]
    SMARTiSM00032. CCP. 4 hits.
    [Graphical view]
    SUPFAMiSSF57535. SSF57535. 5 hits.
    PROSITEiPS50923. SUSHI. 3 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q02985-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MLLLINVILT LWVSCANGQV KPCDFPDIKH GGLFHENMRR PYFPVAVGKY    50
    YSYYCDEHFE TPSGSYWDYI HCTQNGWSPA VPCLRKCYFP YLENGYNQNY 100
    GRKFVQGNST EVACHPGYGL PKAQTTVTCT EKGWSPTPRC IRVRTCSKSD 150
    IEIENGFISE SSSIYILNKE IQYKCKPGYA TADGNSSGSI TCLQNGWSAQ 200
    PICINSSEKC GPPPPISNGD TTSFLLKVYV PQSRVEYQCQ PYYELQGSNY 250
    VTCSNGEWSE PPRCIHPCII TEENMNKNNI KLKGRSDRKY YAKTGDTIEF 300
    MCKLGYNANT SILSFQAVCR EGIVEYPRCE 330
    Length:330
    Mass (Da):37,323
    Last modified:February 21, 2001 - v2
    Checksum:i67B64121D71CD65F
    GO
    Isoform 2 (identifier: Q02985-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         144-204: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:269
    Mass (Da):30,720
    Checksum:i401F2F121B468DFA
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti123 – 1231A → VR in CAA48639. (PubMed:8428964)Curated
    Sequence conflicti132 – 1321K → N in CAA48639. (PubMed:8428964)Curated
    Sequence conflicti143 – 1431V → D in CAA48639. (PubMed:8428964)Curated
    Sequence conflicti194 – 1941Q → R in CAA48639. (PubMed:8428964)Curated
    Sequence conflicti241 – 2411P → S in CAA48639. (PubMed:8428964)Curated
    Sequence conflicti260 – 2601E → A in CAA48639. (PubMed:8428964)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti71 – 711H → Y.
    Corresponds to variant rs17575274 [ dbSNP | Ensembl ].
    VAR_048817

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei144 – 20461Missing in isoform 2. 1 PublicationVSP_043041Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X68679 mRNA. Translation: CAA48639.1.
    AK298459 mRNA. Translation: BAG60672.1.
    AL049741 Genomic DNA. Translation: CAB53064.1.
    BC058009 mRNA. Translation: AAH58009.1.
    CCDSiCCDS30958.1. [Q02985-1]
    CCDS53453.1. [Q02985-2]
    PIRiA45222.
    RefSeqiNP_001160096.1. NM_001166624.1. [Q02985-2]
    NP_066303.2. NM_021023.5. [Q02985-1]
    UniGeneiHs.709217.

    Genome annotation databases

    EnsembliENST00000367425; ENSP00000356395; ENSG00000116785. [Q02985-1]
    ENST00000391985; ENSP00000375845; ENSG00000116785. [Q02985-2]
    GeneIDi10878.
    KEGGihsa:10878.
    UCSCiuc001gtl.3. human. [Q02985-1]
    uc010poy.2. human. [Q02985-2]

    Polymorphism databases

    DMDMi13124752.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X68679 mRNA. Translation: CAA48639.1 .
    AK298459 mRNA. Translation: BAG60672.1 .
    AL049741 Genomic DNA. Translation: CAB53064.1 .
    BC058009 mRNA. Translation: AAH58009.1 .
    CCDSi CCDS30958.1. [Q02985-1 ]
    CCDS53453.1. [Q02985-2 ]
    PIRi A45222.
    RefSeqi NP_001160096.1. NM_001166624.1. [Q02985-2 ]
    NP_066303.2. NM_021023.5. [Q02985-1 ]
    UniGenei Hs.709217.

    3D structure databases

    ProteinModelPortali Q02985.
    SMRi Q02985. Positions 20-330.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116086. 2 interactions.
    IntActi Q02985. 1 interaction.
    STRINGi 9606.ENSP00000356395.

    Polymorphism databases

    DMDMi 13124752.

    Proteomic databases

    PaxDbi Q02985.
    PeptideAtlasi Q02985.
    PRIDEi Q02985.

    Protocols and materials databases

    DNASUi 10878.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000367425 ; ENSP00000356395 ; ENSG00000116785 . [Q02985-1 ]
    ENST00000391985 ; ENSP00000375845 ; ENSG00000116785 . [Q02985-2 ]
    GeneIDi 10878.
    KEGGi hsa:10878.
    UCSCi uc001gtl.3. human. [Q02985-1 ]
    uc010poy.2. human. [Q02985-2 ]

    Organism-specific databases

    CTDi 10878.
    GeneCardsi GC01P196743.
    GeneReviewsi CFHR3.
    HGNCi HGNC:16980. CFHR3.
    MIMi 605336. gene.
    neXtProti NX_Q02985.
    Orphaneti 93581. Atypical hemolytic uremic syndrome with anti-factor H antibodies.
    PharmGKBi PA134909646.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG146710.
    HOGENOMi HOG000049040.
    HOVERGENi HBG005665.
    InParanoidi Q02985.
    OMAi CIRINST.
    OrthoDBi EOG75XGK1.
    PhylomeDBi Q02985.
    TreeFami TF326157.

    Enzyme and pathway databases

    Reactomei REACT_118707. Regulation of Complement cascade.

    Miscellaneous databases

    GeneWikii CFHR3.
    GenomeRNAii 10878.
    NextBioi 41307.
    PROi Q02985.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q02985.
    Bgeei Q02985.
    CleanExi HS_CFHR3.
    Genevestigatori Q02985.

    Family and domain databases

    InterProi IPR000436. Sushi_SCR_CCP.
    [Graphical view ]
    Pfami PF00084. Sushi. 4 hits.
    [Graphical view ]
    SMARTi SM00032. CCP. 4 hits.
    [Graphical view ]
    SUPFAMi SSF57535. SSF57535. 5 hits.
    PROSITEi PS50923. SUSHI. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A novel short consensus repeat-containing molecule is related to human complement factor H."
      Skerka C., Kuehn S., Guenther K., Lingelbach K., Zipfel P.F.
      J. Biol. Chem. 268:2904-2908(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Liver.
    2. "Complement factor H: sequence analysis of 221 kb of human genomic DNA containing the entire fH, fHR-1 and fHR-3 genes."
      Male D.A., Ormsby R.J., Ranganathan S., Giannakis E., Gordon D.L.
      Mol. Immunol. 37:41-52(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Liver.
    4. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] (ISOFORM 1).
      Tissue: Liver.
    6. "Complement factor H and related proteins: an expanding family of complement-regulatory proteins?"
      Zipfel P.F., Skerka C.
      Immunol. Today 15:121-126(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW.
    7. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
      J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-108; ASN-205 AND ASN-309.
      Tissue: Liver.

    Entry informationi

    Entry nameiFHR3_HUMAN
    AccessioniPrimary (citable) accession number: Q02985
    Secondary accession number(s): B4DPR0, Q9UJ16
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 1994
    Last sequence update: February 21, 2001
    Last modified: October 1, 2014
    This is version 124 of the entry and version 2 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, 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