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Q02985

- FHR3_HUMAN

UniProt

Q02985 - FHR3_HUMAN

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Protein

Complement factor H-related protein 3

Gene

CFHR3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

Might be involved in complement regulation.

Enzyme and pathway databases

ReactomeiREACT_118707. 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
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:16980. CFHR3.

Subcellular locationi

GO - Cellular componenti

  1. blood microparticle Source: UniProt
  2. extracellular space Source: ProtInc
  3. extracellular vesicular exosome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

Orphaneti93581. Atypical hemolytic-uremic syndrome with anti-factor H antibodies.
PharmGKBiPA134909646.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1818Sequence AnalysisAdd
BLAST
Chaini19 – 330312Complement factor H-related protein 3PRO_0000005898Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi23 ↔ 72PROSITE-ProRule annotation
Disulfide bondi55 ↔ 83PROSITE-ProRule annotation
Disulfide bondi87 ↔ 129PROSITE-ProRule annotation
Glycosylationi108 – 1081N-linked (GlcNAc...)1 Publication
Disulfide bondi114 ↔ 140PROSITE-ProRule annotation
Disulfide bondi146 ↔ 192PROSITE-ProRule annotation
Disulfide bondi175 ↔ 203PROSITE-ProRule annotation
Glycosylationi185 – 1851N-linked (GlcNAc...)Sequence Analysis
Glycosylationi205 – 2051N-linked (GlcNAc...)1 Publication
Disulfide bondi210 ↔ 253PROSITE-ProRule annotation
Disulfide bondi239 ↔ 264PROSITE-ProRule annotation
Disulfide bondi268 ↔ 319PROSITE-ProRule annotation
Disulfide bondi302 ↔ 329PROSITE-ProRule annotation
Glycosylationi309 – 3091N-linked (GlcNAc...)1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ02985.
PeptideAtlasiQ02985.
PRIDEiQ02985.

Expressioni

Tissue specificityi

Expressed by the liver and secreted in plasma.

Gene expression databases

BgeeiQ02985.
CleanExiHS_CFHR3.
ExpressionAtlasiQ02985. baseline and differential.
GenevestigatoriQ02985.

Interactioni

Protein-protein interaction databases

BioGridi116086. 2 interactions.
IntActiQ02985. 1 interaction.
STRINGi9606.ENSP00000356395.

Structurei

3D structure databases

ProteinModelPortaliQ02985.
SMRiQ02985. Positions 20-330.
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
Domaini144 – 20562Sushi 3PROSITE-ProRule annotationAdd
BLAST
Domaini208 – 26659Sushi 4PROSITE-ProRule annotationAdd
BLAST
Domaini267 – 33064Sushi 5PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

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

Keywords - Domaini

Repeat, Signal, Sushi

Phylogenomic databases

eggNOGiNOG146710.
GeneTreeiENSGT00760000118803.
HOGENOMiHOG000049040.
HOVERGENiHBG005665.
InParanoidiQ02985.
OMAiCIRINST.
OrthoDBiEOG75XGK1.
PhylomeDBiQ02985.
TreeFamiTF326157.

Family and domain databases

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

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. Align

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti123 – 1231A → VR in CAA48639. (PubMed:8428964)Curated
Sequence conflicti132 – 1321K → N in CAA48639. (PubMed:8428964)Curated
Sequence conflicti143 – 1431V → D in CAA48639. (PubMed:8428964)Curated
Sequence conflicti194 – 1941Q → R in CAA48639. (PubMed:8428964)Curated
Sequence conflicti241 – 2411P → S in CAA48639. (PubMed:8428964)Curated
Sequence conflicti260 – 2601E → A in CAA48639. (PubMed:8428964)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti71 – 711H → Y.
Corresponds to variant rs17575274 [ dbSNP | Ensembl ].
VAR_048817

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei144 – 20461Missing in isoform 2. 1 PublicationVSP_043041Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X68679 mRNA. Translation: CAA48639.1.
AK298459 mRNA. Translation: BAG60672.1.
AL049741 Genomic DNA. Translation: CAB53064.1.
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.3. human. [Q02985-1]
uc010poy.2. human. [Q02985-2]

Polymorphism databases

DMDMi13124752.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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. Translation: CAB53064.1 .
BC058009 mRNA. Translation: AAH58009.1 .
CCDSi CCDS30958.1. [Q02985-1 ]
CCDS53453.1. [Q02985-2 ]
PIRi A45222.
RefSeqi NP_001160096.1. NM_001166624.1. [Q02985-2 ]
NP_066303.2. NM_021023.5. [Q02985-1 ]
UniGenei Hs.709217.

3D structure databases

ProteinModelPortali Q02985.
SMRi Q02985. Positions 20-330.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116086. 2 interactions.
IntActi Q02985. 1 interaction.
STRINGi 9606.ENSP00000356395.

Polymorphism databases

DMDMi 13124752.

Proteomic databases

PaxDbi Q02985.
PeptideAtlasi Q02985.
PRIDEi Q02985.

Protocols and materials databases

DNASUi 10878.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000367425 ; ENSP00000356395 ; ENSG00000116785 . [Q02985-1 ]
ENST00000391985 ; ENSP00000375845 ; ENSG00000116785 . [Q02985-2 ]
GeneIDi 10878.
KEGGi hsa:10878.
UCSCi uc001gtl.3. human. [Q02985-1 ]
uc010poy.2. human. [Q02985-2 ]

Organism-specific databases

CTDi 10878.
GeneCardsi GC01P196743.
GeneReviewsi CFHR3.
HGNCi HGNC:16980. CFHR3.
MIMi 605336. gene.
neXtProti NX_Q02985.
Orphaneti 93581. Atypical hemolytic-uremic syndrome with anti-factor H antibodies.
PharmGKBi PA134909646.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG146710.
GeneTreei ENSGT00760000118803.
HOGENOMi HOG000049040.
HOVERGENi HBG005665.
InParanoidi Q02985.
OMAi CIRINST.
OrthoDBi EOG75XGK1.
PhylomeDBi Q02985.
TreeFami TF326157.

Enzyme and pathway databases

Reactomei REACT_118707. Regulation of Complement cascade.

Miscellaneous databases

GeneWikii CFHR3.
GenomeRNAii 10878.
NextBioi 41307.
PROi Q02985.
SOURCEi Search...

Gene expression databases

Bgeei Q02985.
CleanExi HS_CFHR3.
ExpressionAtlasi Q02985. baseline and differential.
Genevestigatori Q02985.

Family and domain databases

InterProi IPR000436. Sushi_SCR_CCP.
[Graphical view ]
Pfami PF00084. Sushi. 4 hits.
[Graphical view ]
SMARTi SM00032. CCP. 4 hits.
[Graphical view ]
SUPFAMi SSF57535. SSF57535. 5 hits.
PROSITEi PS50923. SUSHI. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A novel short consensus repeat-containing molecule is related to human complement factor H."
    Skerka C., Kuehn S., Guenther K., Lingelbach K., Zipfel P.F.
    J. Biol. Chem. 268:2904-2908(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    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] (ISOFORM 2).
    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] (ISOFORM 1).
    Tissue: Liver.
  6. "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.
  7. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
    Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
    J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-108; ASN-205 AND ASN-309.
    Tissue: Liver.

Entry informationi

Entry nameiFHR3_HUMAN
AccessioniPrimary (citable) accession number: Q02985
Secondary accession number(s): B4DPR0, Q9UJ16
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: February 21, 2001
Last modified: October 29, 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

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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3