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Q03591

- FHR1_HUMAN

UniProt

Q03591 - FHR1_HUMAN

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Protein
Complement factor H-related protein 1
Gene
CFHR1, CFHL, CFHL1, CFHL1P, CFHR1P, FHR1, HFL1, HFL2
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. Can associate with lipoproteins and may play a role in lipid metabolism.1 Publication

GO - Biological processi

  1. complement activation Source: ProtInc
Complete GO annotation...

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
Complete GO annotation...

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 – 1818 Reviewed prediction
Add
BLAST
Chaini19 – 330312Complement factor H-related protein 1
PRO_0000005896Add
BLAST

Amino acid modifications

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

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

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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini22 – 8463Sushi 1
Add
BLAST
Domaini85 – 14258Sushi 2
Add
BLAST
Domaini145 – 20359Sushi 3
Add
BLAST
Domaini206 – 26459Sushi 4
Add
BLAST
Domaini273 – 32957Sushi 5
Add
BLAST

Sequence similaritiesi

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

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti71 – 711T → N in CAA39666. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 125 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

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