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Q03591 (FHR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 122. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:CFHR1
Synonyms:CFHL, CFHL1, CFHL1P, CFHR1P, FHR1, HFL1, HFL2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length330 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Might be involved in complement regulation. Can associate with lipoproteins and may play a role in lipid metabolism.

Subcellular location

Secreted.

Tissue specificity

Expressed by the liver and secreted in plasma.

Post-translational modification

N-glycosylated. Two forms are observed; one with a single side chain and the other with two. Ref.7

Sequence similarities

Contains 5 Sushi (CCP/SCR) domains.

Ontologies

Keywords
   Cellular componentSecreted
   Coding sequence diversityPolymorphism
   DomainRepeat
Signal
Sushi
   PTMDisulfide bond
Glycoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcomplement activation

Traceable author statement Ref.6. Source: ProtInc

   Cellular_componentblood microparticle

Inferred from direct assay PubMed 22516433. Source: UniProt

extracellular space

Traceable author statement Ref.6. Source: ProtInc

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1818 Potential
Chain19 – 330312Complement factor H-related protein 1
PRO_0000005896

Regions

Domain22 – 8463Sushi 1
Domain85 – 14258Sushi 2
Domain145 – 20359Sushi 3
Domain206 – 26459Sushi 4
Domain273 – 32957Sushi 5

Amino acid modifications

Glycosylation1261N-linked (GlcNAc...) Ref.9
Glycosylation1941N-linked (GlcNAc...) Ref.9
Disulfide bond23 ↔ 72 By similarity
Disulfide bond55 ↔ 83 By similarity
Disulfide bond87 ↔ 129 By similarity
Disulfide bond114 ↔ 140 By similarity
Disulfide bond147 ↔ 190 By similarity
Disulfide bond176 ↔ 201 By similarity
Disulfide bond208 ↔ 251 By similarity
Disulfide bond237 ↔ 262 By similarity
Disulfide bond266 ↔ 317 By similarity
Disulfide bond300 ↔ 327 By similarity

Natural variations

Natural variant1571H → Y. Ref.1 Ref.3 Ref.6
Corresponds to variant rs425757 [ dbSNP | Ensembl ].
VAR_001980
Natural variant1591L → V. Ref.1 Ref.3 Ref.6
Corresponds to variant rs113811987 [ dbSNP | Ensembl ].
VAR_001981
Natural variant1751E → Q. Ref.1 Ref.3 Ref.6
Corresponds to variant rs388862 [ dbSNP | Ensembl ].
VAR_001982
Natural variant2961A → V.
Corresponds to variant rs16840561 [ dbSNP | Ensembl ].
VAR_048816

Experimental info

Sequence conflict711T → N in CAA39666. Ref.6

Secondary structure

....................... 330
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q03591 [UniParc].

Last modified December 16, 2008. Version 2.
Checksum: C0A1B38B8B34B6EF

FASTA33037,651
        10         20         30         40         50         60 
MWLLVSVILI SRISSVGGEA TFCDFPKINH GILYDEEKYK PFSQVPTGEV FYYSCEYNFV 

        70         80         90        100        110        120 
SPSKSFWTRI TCTEEGWSPT PKCLRLCFFP FVENGHSESS GQTHLEGDTV QIICNTGYRL 

       130        140        150        160        170        180 
QNNENNISCV ERGWSTPPKC RSTDTSCVNP PTVQNAHILS RQMSKYPSGE RVRYECRSPY 

       190        200        210        220        230        240 
EMFGDEEVMC LNGNWTEPPQ CKDSTGKCGP PPPIDNGDIT SFPLSVYAPA SSVEYQCQNL 

       250        260        270        280        290        300 
YQLEGNKRIT CRNGQWSEPP KCLHPCVISR EIMENYNIAL RWTAKQKLYL RTGESAEFVC 

       310        320        330 
KRGYRLSSRS HTLRTTCWDG KLEYPTCAKR 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRI56100.
RefSeqNP_002104.2. NM_002113.2.
UniGeneHs.575869.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3ZD2X-ray1.99A/B19-143[»]
ProteinModelPortalQ03591.
SMRQ03591. Positions 19-143, 145-330.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109326. 2 interactions.
IntActQ03591. 1 interaction.
STRING9606.ENSP00000314299.

Polymorphism databases

DMDM218512041.

Proteomic databases

PaxDbQ03591.
PeptideAtlasQ03591.
PRIDEQ03591.

Protocols and materials databases

DNASU3078.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000320493; ENSP00000314299; ENSG00000244414.
GeneID3078.
KEGGhsa:3078.
UCSCuc001gtm.3. human.

Organism-specific databases

CTD3078.
GeneCardsGC01P196788.
HGNCHGNC:4888. CFHR1.
HPAHPA038915.
HPA038922.
HPA040726.
MIM134371. gene.
neXtProtNX_Q03591.
Orphanet93581. Atypical hemolytic uremic syndrome with anti-factor H antibodies.
329931. C3 glomerulonephritis.
93571. Dense deposit disease.
PharmGKBPA29265.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG146886.
HOGENOMHOG000049040.
HOVERGENHBG005665.
InParanoidQ03591.
OMAWLPTPKC.
PhylomeDBQ03591.
TreeFamTF326157.

Gene expression databases

ArrayExpressQ03591.
BgeeQ03591.
GenevestigatorQ03591.

Family and domain databases

InterProIPR000436. Sushi_SCR_CCP.
[Graphical view]
PfamPF00084. Sushi. 5 hits.
[Graphical view]
SMARTSM00032. CCP. 5 hits.
[Graphical view]
SUPFAMSSF57535. SSF57535. 5 hits.
PROSITEPS50923. SUSHI. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCFHR1.
GenomeRNAi3078.
NextBio12189.
PROQ03591.
SOURCESearch...

Entry information

Entry nameFHR1_HUMAN
AccessionPrimary (citable) accession number: Q03591
Secondary accession number(s): A8K465, Q3B774, Q9UJ17
Entry history
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: December 16, 2008
Last modified: April 16, 2014
This is version 122 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM