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Q03591

- FHR1_HUMAN

UniProt

Q03591 - FHR1_HUMAN

Protein

Complement factor H-related protein 1

Gene

CFHR1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 126 (01 Oct 2014)
      Sequence version 2 (16 Dec 2008)
      Previous versions | rss
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    Functioni

    Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. Can associate with lipoproteins and may play a role in lipid metabolism.1 Publication

    GO - Biological processi

    1. complement activation Source: ProtInc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Complement factor H-related protein 1
    Short name:
    FHR-1
    Alternative name(s):
    H factor-like protein 1
    Short name:
    H-factor-like 1
    H36
    Gene namesi
    Name:CFHR1
    Synonyms:CFHL, CFHL1, CFHL1P, CFHR1P, FHR1, HFL1, HFL2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:4888. CFHR1.

    Subcellular locationi

    GO - Cellular componenti

    1. blood microparticle Source: UniProt
    2. extracellular space Source: ProtInc
    3. extracellular vesicular exosome Source: UniProt

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Organism-specific databases

    Orphaneti93581. Atypical hemolytic uremic syndrome with anti-factor H antibodies.
    329931. C3 glomerulonephritis.
    93571. Dense deposit disease.
    PharmGKBiPA29265.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1818Sequence AnalysisAdd
    BLAST
    Chaini19 – 330312Complement factor H-related protein 1PRO_0000005896Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi23 ↔ 721 PublicationPROSITE-ProRule annotation
    Disulfide bondi55 ↔ 831 PublicationPROSITE-ProRule annotation
    Disulfide bondi87 ↔ 1291 PublicationPROSITE-ProRule annotation
    Disulfide bondi114 ↔ 1401 PublicationPROSITE-ProRule annotation
    Glycosylationi126 – 1261N-linked (GlcNAc...)1 Publication
    Disulfide bondi147 ↔ 190PROSITE-ProRule annotation
    Disulfide bondi176 ↔ 201PROSITE-ProRule annotation
    Glycosylationi194 – 1941N-linked (GlcNAc...)1 Publication
    Disulfide bondi208 ↔ 251PROSITE-ProRule annotation
    Disulfide bondi237 ↔ 262PROSITE-ProRule annotation
    Disulfide bondi266 ↔ 317PROSITE-ProRule annotation
    Disulfide bondi300 ↔ 327PROSITE-ProRule annotation

    Post-translational modificationi

    N-glycosylated. Two forms are observed; one with a single side chain and the other with two.1 Publication

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ03591.
    PeptideAtlasiQ03591.
    PRIDEiQ03591.

    Expressioni

    Tissue specificityi

    Expressed by the liver and secreted in plasma.

    Gene expression databases

    ArrayExpressiQ03591.
    BgeeiQ03591.
    GenevestigatoriQ03591.

    Organism-specific databases

    HPAiHPA038915.
    HPA038922.
    HPA040726.

    Interactioni

    Subunit structurei

    Head-to-tail homodimer and heterodimer with CFHR2 or CFHR5.1 Publication

    Protein-protein interaction databases

    BioGridi109326. 2 interactions.
    IntActiQ03591. 1 interaction.
    STRINGi9606.ENSP00000314299.

    Structurei

    Secondary structure

    1
    330
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi21 – 244
    Beta strandi31 – 333
    Helixi36 – 383
    Beta strandi44 – 463
    Beta strandi50 – 556
    Beta strandi66 – 738
    Beta strandi76 – 794
    Beta strandi84 – 874
    Turni98 – 1014
    Beta strandi125 – 1306
    Beta strandi133 – 1364

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3ZD2X-ray1.99A/B19-143[»]
    ProteinModelPortaliQ03591.
    SMRiQ03591. Positions 19-143, 145-330.
    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
    Domaini145 – 20359Sushi 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini206 – 26459Sushi 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini273 – 32957Sushi 5PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

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

    Keywords - Domaini

    Repeat, Signal, Sushi

    Phylogenomic databases

    eggNOGiNOG146886.
    HOGENOMiHOG000049040.
    HOVERGENiHBG005665.
    InParanoidiQ03591.
    OMAiWLPTPKC.
    PhylomeDBiQ03591.
    TreeFamiTF326157.

    Family and domain databases

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

    Sequencei

    Sequence statusi: Complete.

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

    Q03591-1 [UniParc]FASTAAdd to Basket

    « Hide

    MWLLVSVILI SRISSVGGEA TFCDFPKINH GILYDEEKYK PFSQVPTGEV    50
    FYYSCEYNFV SPSKSFWTRI TCTEEGWSPT PKCLRLCFFP FVENGHSESS 100
    GQTHLEGDTV QIICNTGYRL QNNENNISCV ERGWSTPPKC RSTDTSCVNP 150
    PTVQNAHILS RQMSKYPSGE RVRYECRSPY EMFGDEEVMC LNGNWTEPPQ 200
    CKDSTGKCGP PPPIDNGDIT SFPLSVYAPA SSVEYQCQNL YQLEGNKRIT 250
    CRNGQWSEPP KCLHPCVISR EIMENYNIAL RWTAKQKLYL RTGESAEFVC 300
    KRGYRLSSRS HTLRTTCWDG KLEYPTCAKR 330
    Length:330
    Mass (Da):37,651
    Last modified:December 16, 2008 - v2
    Checksum:iC0A1B38B8B34B6EF
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti71 – 711T → N in CAA39666. (PubMed:1711047)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti157 – 1571H → Y.3 Publications
    Corresponds to variant rs425757 [ dbSNP | Ensembl ].
    VAR_001980
    Natural varianti159 – 1591L → V.3 Publications
    Corresponds to variant rs113811987 [ dbSNP | Ensembl ].
    VAR_001981
    Natural varianti175 – 1751E → Q.3 Publications
    Corresponds to variant rs388862 [ dbSNP | Ensembl ].
    VAR_001982
    Natural varianti296 – 2961A → V.
    Corresponds to variant rs16840561 [ dbSNP | Ensembl ].
    VAR_048816

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M65292 mRNA. Translation: AAA35946.1.
    M65293 mRNA. Translation: AAA35947.1.
    AK290830 mRNA. Translation: BAF83519.1.
    AL049741 Genomic DNA. Translation: CAB53063.1.
    BC016755 mRNA. Translation: AAH16755.1.
    BC107771 mRNA. Translation: AAI07772.1.
    X56209 mRNA. Translation: CAA39666.1.
    CCDSiCCDS1386.1.
    PIRiI56100.
    RefSeqiNP_002104.2. NM_002113.2.
    UniGeneiHs.575869.

    Genome annotation databases

    EnsembliENST00000320493; ENSP00000314299; ENSG00000244414.
    GeneIDi3078.
    KEGGihsa:3078.
    UCSCiuc001gtm.3. human.

    Polymorphism databases

    DMDMi218512041.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M65292 mRNA. Translation: AAA35946.1 .
    M65293 mRNA. Translation: AAA35947.1 .
    AK290830 mRNA. Translation: BAF83519.1 .
    AL049741 Genomic DNA. Translation: CAB53063.1 .
    BC016755 mRNA. Translation: AAH16755.1 .
    BC107771 mRNA. Translation: AAI07772.1 .
    X56209 mRNA. Translation: CAA39666.1 .
    CCDSi CCDS1386.1.
    PIRi I56100.
    RefSeqi NP_002104.2. NM_002113.2.
    UniGenei Hs.575869.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3ZD2 X-ray 1.99 A/B 19-143 [» ]
    ProteinModelPortali Q03591.
    SMRi Q03591. Positions 19-143, 145-330.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109326. 2 interactions.
    IntActi Q03591. 1 interaction.
    STRINGi 9606.ENSP00000314299.

    Polymorphism databases

    DMDMi 218512041.

    Proteomic databases

    PaxDbi Q03591.
    PeptideAtlasi Q03591.
    PRIDEi Q03591.

    Protocols and materials databases

    DNASUi 3078.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000320493 ; ENSP00000314299 ; ENSG00000244414 .
    GeneIDi 3078.
    KEGGi hsa:3078.
    UCSCi uc001gtm.3. human.

    Organism-specific databases

    CTDi 3078.
    GeneCardsi GC01P196788.
    GeneReviewsi CFHR1.
    HGNCi HGNC:4888. CFHR1.
    HPAi HPA038915.
    HPA038922.
    HPA040726.
    MIMi 134371. gene.
    neXtProti NX_Q03591.
    Orphaneti 93581. Atypical hemolytic uremic syndrome with anti-factor H antibodies.
    329931. C3 glomerulonephritis.
    93571. Dense deposit disease.
    PharmGKBi PA29265.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG146886.
    HOGENOMi HOG000049040.
    HOVERGENi HBG005665.
    InParanoidi Q03591.
    OMAi WLPTPKC.
    PhylomeDBi Q03591.
    TreeFami TF326157.

    Miscellaneous databases

    GeneWikii CFHR1.
    GenomeRNAii 3078.
    NextBioi 12189.
    PROi Q03591.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q03591.
    Bgeei Q03591.
    Genevestigatori Q03591.

    Family and domain databases

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

    Publicationsi

    1. "Cloning of the 1.4-kb mRNA species of human complement factor H reveals a novel member of the short consensus repeat family related to the carboxy terminal of the classical 150-kDa molecule."
      Estaller C., Koistinen V., Schwaeble W., Dierich M.P., Weiss E.H.
      J. Immunol. 146:3190-3196(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS TYR-157; VAL-159 AND GLN-175.
      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], VARIANTS TYR-157; VAL-159 AND GLN-175.
      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].
      Tissue: Liver and Skeletal muscle.
    6. "Molecular cloning of a human serum protein structurally related to complement factor H."
      Skerka C., Horstmann R.D., Zipfel P.F.
      J. Biol. Chem. 266:12015-12020(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 4-330, VARIANTS TYR-157; VAL-159 AND GLN-175.
    7. "Two major serum components antigenically related to complement factor H are different glycosylation forms of a single protein with no factor H-like complement regulatory functions."
      Timmann C., Leippe M., Horstmann R.D.
      J. Immunol. 146:1265-1270(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE OF CARBOHYDRATES.
    8. "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.
    9. "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
      Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.
      J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-126 AND ASN-194.
      Tissue: Plasma.
    10. Cited for: X-RAY CRYSTALLOGRAPHY (1.99 ANGSTROMS) OF 19-143, FUNCTION, SUBUNIT, DISULFIDE BONDS.

    Entry informationi

    Entry nameiFHR1_HUMAN
    AccessioniPrimary (citable) accession number: Q03591
    Secondary accession number(s): A8K465, Q3B774, Q9UJ17
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 1994
    Last sequence update: December 16, 2008
    Last modified: October 1, 2014
    This is version 126 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

    3D-structure, 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3