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Protein

Complement factor H-related protein 1

Gene

CFHR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000080910-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:4888. CFHR1.

Subcellular locationi

GO - Cellular componenti

  • blood microparticle Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • extracellular space Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi3078.
MalaCardsiCFHR1.
OpenTargetsiENSG00000244414.
Orphaneti93581. Atypical hemolytic-uremic syndrome with anti-factor H antibodies.
329931. C3 glomerulonephritis.
93571. Dense deposit disease.
PharmGKBiPA29265.

Polymorphism and mutation databases

BioMutaiCFHR1.
DMDMi218512041.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
ChainiPRO_000000589619 – 330Complement factor H-related protein 1Add BLAST312

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi23 ↔ 72PROSITE-ProRule annotation1 Publication
Disulfide bondi55 ↔ 83PROSITE-ProRule annotation1 Publication
Disulfide bondi87 ↔ 129PROSITE-ProRule annotation1 Publication
Disulfide bondi114 ↔ 140PROSITE-ProRule annotation1 Publication
Glycosylationi126N-linked (GlcNAc...)1 Publication1
Disulfide bondi147 ↔ 190PROSITE-ProRule annotation
Disulfide bondi176 ↔ 201PROSITE-ProRule annotation
Glycosylationi194N-linked (GlcNAc...)1 Publication1
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

MaxQBiQ03591.
PaxDbiQ03591.
PeptideAtlasiQ03591.
PRIDEiQ03591.

Expressioni

Tissue specificityi

Expressed by the liver and secreted in plasma.

Gene expression databases

BgeeiENSG00000244414.
ExpressionAtlasiQ03591. baseline and differential.
GenevisibleiQ03591. HS.

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. 3 interactors.
IntActiQ03591. 1 interactor.
STRINGi9606.ENSP00000314299.

Structurei

Secondary structure

1330
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi21 – 24Combined sources4
Beta strandi31 – 33Combined sources3
Helixi36 – 38Combined sources3
Beta strandi44 – 46Combined sources3
Beta strandi50 – 55Combined sources6
Beta strandi66 – 73Combined sources8
Beta strandi76 – 79Combined sources4
Beta strandi84 – 87Combined sources4
Turni98 – 101Combined sources4
Beta strandi125 – 130Combined sources6
Beta strandi133 – 136Combined sources4
Beta strandi217 – 221Combined sources5
Beta strandi232 – 237Combined sources6
Beta strandi242 – 245Combined sources4
Beta strandi247 – 252Combined sources6
Beta strandi261 – 263Combined sources3
Helixi270 – 275Combined sources6
Beta strandi278 – 280Combined sources3
Helixi282 – 284Combined sources3
Beta strandi295 – 300Combined sources6
Beta strandi313 – 318Combined sources6

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3ZD2X-ray1.99A/B19-143[»]
4MUCX-ray2.90A/B205-329[»]
ProteinModelPortaliQ03591.
SMRiQ03591.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini22 – 84Sushi 1PROSITE-ProRule annotationAdd BLAST63
Domaini85 – 142Sushi 2PROSITE-ProRule annotationAdd BLAST58
Domaini145 – 203Sushi 3PROSITE-ProRule annotationAdd BLAST59
Domaini206 – 264Sushi 4PROSITE-ProRule annotationAdd BLAST59
Domaini273 – 329Sushi 5PROSITE-ProRule annotationAdd BLAST57

Sequence similaritiesi

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

Keywords - Domaini

Repeat, Signal, Sushi

Phylogenomic databases

eggNOGiENOG410IEY8. Eukaryota.
ENOG4111AE7. LUCA.
GeneTreeiENSGT00850000132282.
HOGENOMiHOG000049040.
HOVERGENiHBG005665.
InParanoidiQ03591.
OMAiWLPTPKC.
OrthoDBiEOG091G0J8N.
PhylomeDBiQ03591.
TreeFamiTF326157.

Family and domain databases

CDDicd00033. CCP. 3 hits.
InterProiIPR000436. Sushi_SCR_CCP_dom.
[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

        10         20         30         40         50
MWLLVSVILI SRISSVGGEA TFCDFPKINH GILYDEEKYK PFSQVPTGEV
60 70 80 90 100
FYYSCEYNFV SPSKSFWTRI TCTEEGWSPT PKCLRLCFFP FVENGHSESS
110 120 130 140 150
GQTHLEGDTV QIICNTGYRL QNNENNISCV ERGWSTPPKC RSTDTSCVNP
160 170 180 190 200
PTVQNAHILS RQMSKYPSGE RVRYECRSPY EMFGDEEVMC LNGNWTEPPQ
210 220 230 240 250
CKDSTGKCGP PPPIDNGDIT SFPLSVYAPA SSVEYQCQNL YQLEGNKRIT
260 270 280 290 300
CRNGQWSEPP KCLHPCVISR EIMENYNIAL RWTAKQKLYL RTGESAEFVC
310 320 330
KRGYRLSSRS HTLRTTCWDG KLEYPTCAKR
Length:330
Mass (Da):37,651
Last modified:December 16, 2008 - v2
Checksum:iC0A1B38B8B34B6EF
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti71T → N in CAA39666 (PubMed:1711047).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_001980157H → Y.3 PublicationsCorresponds to variant rs425757dbSNPEnsembl.1
Natural variantiVAR_001981159L → V.3 PublicationsCorresponds to variant rs113811987dbSNPEnsembl.1
Natural variantiVAR_001982175E → Q.3 PublicationsCorresponds to variant rs388862dbSNPEnsembl.1
Natural variantiVAR_048816296A → V.Corresponds to variant rs16840561dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.
UCSCiuc001gtn.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3ZD2X-ray1.99A/B19-143[»]
4MUCX-ray2.90A/B205-329[»]
ProteinModelPortaliQ03591.
SMRiQ03591.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109326. 3 interactors.
IntActiQ03591. 1 interactor.
STRINGi9606.ENSP00000314299.

Polymorphism and mutation databases

BioMutaiCFHR1.
DMDMi218512041.

Proteomic databases

MaxQBiQ03591.
PaxDbiQ03591.
PeptideAtlasiQ03591.
PRIDEiQ03591.

Protocols and materials databases

DNASUi3078.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000320493; ENSP00000314299; ENSG00000244414.
GeneIDi3078.
KEGGihsa:3078.
UCSCiuc001gtn.4. human.

Organism-specific databases

CTDi3078.
DisGeNETi3078.
GeneCardsiCFHR1.
GeneReviewsiCFHR1.
HGNCiHGNC:4888. CFHR1.
HPAiHPA038915.
HPA038922.
HPA040726.
MalaCardsiCFHR1.
MIMi134371. gene.
neXtProtiNX_Q03591.
OpenTargetsiENSG00000244414.
Orphaneti93581. Atypical hemolytic-uremic syndrome with anti-factor H antibodies.
329931. C3 glomerulonephritis.
93571. Dense deposit disease.
PharmGKBiPA29265.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEY8. Eukaryota.
ENOG4111AE7. LUCA.
GeneTreeiENSGT00850000132282.
HOGENOMiHOG000049040.
HOVERGENiHBG005665.
InParanoidiQ03591.
OMAiWLPTPKC.
OrthoDBiEOG091G0J8N.
PhylomeDBiQ03591.
TreeFamiTF326157.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000080910-MONOMER.

Miscellaneous databases

GeneWikiiCFHR1.
GenomeRNAii3078.
PROiQ03591.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000244414.
ExpressionAtlasiQ03591. baseline and differential.
GenevisibleiQ03591. HS.

Family and domain databases

CDDicd00033. CCP. 3 hits.
InterProiIPR000436. Sushi_SCR_CCP_dom.
[Graphical view]
PfamiPF00084. Sushi. 5 hits.
[Graphical view]
SMARTiSM00032. CCP. 5 hits.
[Graphical view]
SUPFAMiSSF57535. SSF57535. 5 hits.
PROSITEiPS50923. SUSHI. 4 hits.
[Graphical view]
ProtoNetiSearch...

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: November 30, 2016
This is version 145 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.