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Protein

Complement factor H-related protein 3

Gene

CFHR3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Might be involved in complement regulation.

Enzyme and pathway databases

ReactomeiR-HSA-977606 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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000116785.13
HGNCiHGNC:16980 CFHR3
MIMi605336 gene
neXtProtiNX_Q02985

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Hemolytic uremic syndrome atypical 1 (AHUS1)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry. A deletion encompassing CFHR1 and CFHR3 is associated with an increased risk of atypical hemolytic uremic syndrome, likely due to a defective regulation of complement activation (PubMed:17367211). Some patients carrying the deletion have serum anti-CFH autoantibodies (PubMed:18006700).2 Publications
Disease descriptionAn atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease.
See also OMIM:235400

Keywords - Diseasei

Hemolytic uremic syndrome

Organism-specific databases

DisGeNETi10878
GeneReviewsiCFHR3
MalaCardsiCFHR3
MIMi235400 phenotype
OpenTargetsiENSG00000116785
Orphaneti93581 Atypical hemolytic-uremic syndrome with anti-factor H antibodies
PharmGKBiPA134909646

Polymorphism and mutation databases

BioMutaiCFHR3
DMDMi13124752

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
ChainiPRO_000000589819 – 330Complement factor H-related protein 3Add BLAST312

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi23 ↔ 72PROSITE-ProRule annotation
Disulfide bondi55 ↔ 83PROSITE-ProRule annotation
Disulfide bondi87 ↔ 129PROSITE-ProRule annotation
Glycosylationi108N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi114 ↔ 140PROSITE-ProRule annotation
Disulfide bondi146 ↔ 192PROSITE-ProRule annotation
Disulfide bondi175 ↔ 203PROSITE-ProRule annotation
Glycosylationi185N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi205N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi210 ↔ 253PROSITE-ProRule annotation
Disulfide bondi239 ↔ 264PROSITE-ProRule annotation
Disulfide bondi268 ↔ 319PROSITE-ProRule annotation
Disulfide bondi302 ↔ 329PROSITE-ProRule annotation
Glycosylationi309N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ02985
PeptideAtlasiQ02985
PRIDEiQ02985
ProteomicsDBi58149
58150 [Q02985-2]

PTM databases

GlyConnecti1154
iPTMnetiQ02985
PhosphoSitePlusiQ02985

Expressioni

Tissue specificityi

Expressed by the liver and secreted in plasma.

Gene expression databases

BgeeiENSG00000116785 Expressed in 72 organ(s), highest expression level in right lobe of liver
CleanExiHS_CFHR3
ExpressionAtlasiQ02985 baseline and differential
GenevisibleiQ02985 HS

Interactioni

Protein-protein interaction databases

BioGridi116086, 4 interactors
IntActiQ02985, 1 interactor
STRINGi9606.ENSP00000356395

Structurei

3D structure databases

ProteinModelPortaliQ02985
SMRiQ02985
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini22 – 84Sushi 1PROSITE-ProRule annotationAdd BLAST63
Domaini85 – 142Sushi 2PROSITE-ProRule annotationAdd BLAST58
Domaini144 – 205Sushi 3PROSITE-ProRule annotationAdd BLAST62
Domaini208 – 266Sushi 4PROSITE-ProRule annotationAdd BLAST59
Domaini267 – 330Sushi 5PROSITE-ProRule annotationAdd BLAST64

Keywords - Domaini

Repeat, Signal, Sushi

Phylogenomic databases

eggNOGiENOG410IVIT Eukaryota
ENOG410ZN5E LUCA
GeneTreeiENSGT00910000143999
HOGENOMiHOG000049040
HOVERGENiHBG005665
InParanoidiQ02985
OMAiVEYECES
OrthoDBiEOG091G00V4
PhylomeDBiQ02985
TreeFamiTF326157

Family and domain databases

CDDicd00033 CCP, 3 hits
InterProiView protein in InterPro
IPR035976 Sushi/SCR/CCP_sf
IPR000436 Sushi_SCR_CCP_dom
PfamiView protein in Pfam
PF00084 Sushi, 4 hits
SMARTiView protein in SMART
SM00032 CCP, 4 hits
SUPFAMiSSF57535 SSF57535, 5 hits
PROSITEiView protein in PROSITE
PS50923 SUSHI, 3 hits

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. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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
        10         20         30         40         50
MLLLINVILT LWVSCANGQV KPCDFPDIKH GGLFHENMRR PYFPVAVGKY
60 70 80 90 100
YSYYCDEHFE TPSGSYWDYI HCTQNGWSPA VPCLRKCYFP YLENGYNQNY
110 120 130 140 150
GRKFVQGNST EVACHPGYGL PKAQTTVTCT EKGWSPTPRC IRVRTCSKSD
160 170 180 190 200
IEIENGFISE SSSIYILNKE IQYKCKPGYA TADGNSSGSI TCLQNGWSAQ
210 220 230 240 250
PICINSSEKC GPPPPISNGD TTSFLLKVYV PQSRVEYQCQ PYYELQGSNY
260 270 280 290 300
VTCSNGEWSE PPRCIHPCII TEENMNKNNI KLKGRSDRKY YAKTGDTIEF
310 320 330
MCKLGYNANT SILSFQAVCR EGIVEYPRCE
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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q6NSD3Q6NSD3_HUMAN
CFHR3 protein
CFHR3 hCG_1724981
232Annotation score:
A0A087WYK9A0A087WYK9_HUMAN
Complement factor H-related protein...
CFHR3
195Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti123A → VR in CAA48639 (PubMed:8428964).Curated1
Sequence conflicti132K → N in CAA48639 (PubMed:8428964).Curated1
Sequence conflicti143V → D in CAA48639 (PubMed:8428964).Curated1
Sequence conflicti194Q → R in CAA48639 (PubMed:8428964).Curated1
Sequence conflicti241P → S in CAA48639 (PubMed:8428964).Curated1
Sequence conflicti260E → A in CAA48639 (PubMed:8428964).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04881771H → Y. Corresponds to variant dbSNP:rs17575274Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_043041144 – 204Missing in isoform 2. 1 PublicationAdd BLAST61

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X68679 mRNA Translation: CAA48639.1
AK298459 mRNA Translation: BAG60672.1
AL049741 Genomic DNA No translation available.
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.4 human [Q02985-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X68679 mRNA Translation: CAA48639.1
AK298459 mRNA Translation: BAG60672.1
AL049741 Genomic DNA No translation available.
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

3D structure databases

ProteinModelPortaliQ02985
SMRiQ02985
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116086, 4 interactors
IntActiQ02985, 1 interactor
STRINGi9606.ENSP00000356395

PTM databases

GlyConnecti1154
iPTMnetiQ02985
PhosphoSitePlusiQ02985

Polymorphism and mutation databases

BioMutaiCFHR3
DMDMi13124752

Proteomic databases

PaxDbiQ02985
PeptideAtlasiQ02985
PRIDEiQ02985
ProteomicsDBi58149
58150 [Q02985-2]

Protocols and materials databases

DNASUi10878
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000367425; ENSP00000356395; ENSG00000116785 [Q02985-1]
ENST00000391985; ENSP00000375845; ENSG00000116785 [Q02985-2]
GeneIDi10878
KEGGihsa:10878
UCSCiuc001gtl.4 human [Q02985-1]

Organism-specific databases

CTDi10878
DisGeNETi10878
EuPathDBiHostDB:ENSG00000116785.13
GeneCardsiCFHR3
GeneReviewsiCFHR3
HGNCiHGNC:16980 CFHR3
MalaCardsiCFHR3
MIMi235400 phenotype
605336 gene
neXtProtiNX_Q02985
OpenTargetsiENSG00000116785
Orphaneti93581 Atypical hemolytic-uremic syndrome with anti-factor H antibodies
PharmGKBiPA134909646
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IVIT Eukaryota
ENOG410ZN5E LUCA
GeneTreeiENSGT00910000143999
HOGENOMiHOG000049040
HOVERGENiHBG005665
InParanoidiQ02985
OMAiVEYECES
OrthoDBiEOG091G00V4
PhylomeDBiQ02985
TreeFamiTF326157

Enzyme and pathway databases

ReactomeiR-HSA-977606 Regulation of Complement cascade

Miscellaneous databases

ChiTaRSiCFHR3 human
GeneWikiiCFHR3
GenomeRNAii10878
PROiPR:Q02985
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000116785 Expressed in 72 organ(s), highest expression level in right lobe of liver
CleanExiHS_CFHR3
ExpressionAtlasiQ02985 baseline and differential
GenevisibleiQ02985 HS

Family and domain databases

CDDicd00033 CCP, 3 hits
InterProiView protein in InterPro
IPR035976 Sushi/SCR/CCP_sf
IPR000436 Sushi_SCR_CCP_dom
PfamiView protein in Pfam
PF00084 Sushi, 4 hits
SMARTiView protein in SMART
SM00032 CCP, 4 hits
SUPFAMiSSF57535 SSF57535, 5 hits
PROSITEiView protein in PROSITE
PS50923 SUSHI, 3 hits
ProtoNetiSearch...

Entry informationi

Entry nameiFHR3_HUMAN
AccessioniPrimary (citable) accession number: Q02985
Secondary accession number(s): B4DPR0, Q9UJ16
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: February 21, 2001
Last modified: November 7, 2018
This is version 153 of the entry and version 2 of the sequence. See 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
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