Q02985 (FHR3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Complement factor H-related protein 3
Short name=FHR-3

Alternative name(s):
DOWN16
H factor-like protein 3

Gene names

Name:	CFHR3
Synonyms:	CFHL3, FHR3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	330 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Might be involved in complement regulation.
Subcellular location	Secreted.
Tissue specificity	Expressed by the liver and secreted in plasma.
Sequence similarities	Contains 5 Sushi (CCP/SCR) domains.

Ontologies

Keywords
Cellular component	Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Signal Sushi
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	extracellular space Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q02985-1)

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.

Isoform 2 (identifier: Q02985-2)

The sequence of this isoform differs from the canonical sequence as follows:
     144-204: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 18	18	Potential
	Chain	19 – 330	312	Complement factor H-related protein 3		PRO_0000005898
Regions
	Domain	22 – 84	63	Sushi 1
	Domain	85 – 142	58	Sushi 2
	Domain	144 – 205	62	Sushi 3
	Domain	208 – 266	59	Sushi 4
	Domain	267 – 330	64	Sushi 5
Amino acid modifications
	Glycosylation	108	1	N-linked (GlcNAc...) Ref.7
	Glycosylation	185	1	N-linked (GlcNAc...) Potential
	Glycosylation	205	1	N-linked (GlcNAc...) Ref.7
	Glycosylation	309	1	N-linked (GlcNAc...) Ref.7
	Disulfide bond	23 ↔ 72		By similarity
	Disulfide bond	55 ↔ 83		By similarity
	Disulfide bond	87 ↔ 129		By similarity
	Disulfide bond	114 ↔ 140		By similarity
	Disulfide bond	146 ↔ 192		By similarity
	Disulfide bond	175 ↔ 203		By similarity
	Disulfide bond	210 ↔ 253		By similarity
	Disulfide bond	239 ↔ 264		By similarity
	Disulfide bond	268 ↔ 319		By similarity
	Disulfide bond	302 ↔ 329		By similarity
Natural variations
	Alternative sequence	144 – 204	61	Missing in isoform 2.		VSP_043041
	Natural variant	71	1	H → Y. Corresponds to variant rs17575274 [ dbSNP | Ensembl ].		VAR_048817
Experimental info
	Sequence conflict	123	1	A → VR in CAA48639. Ref.1
	Sequence conflict	132	1	K → N in CAA48639. Ref.1
	Sequence conflict	143	1	V → D in CAA48639. Ref.1
	Sequence conflict	194	1	Q → R in CAA48639. Ref.1
	Sequence conflict	241	1	P → S in CAA48639. Ref.1
	Sequence conflict	260	1	E → A in CAA48639. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 21, 2001. Version 2. Checksum: 67B64121D71CD65F	FASTA	330	37,323
	10 20 30 40 50 60 MLLLINVILT LWVSCANGQV KPCDFPDIKH GGLFHENMRR PYFPVAVGKY YSYYCDEHFE 70 80 90 100 110 120 TPSGSYWDYI HCTQNGWSPA VPCLRKCYFP YLENGYNQNY GRKFVQGNST EVACHPGYGL 130 140 150 160 170 180 PKAQTTVTCT EKGWSPTPRC IRVRTCSKSD IEIENGFISE SSSIYILNKE IQYKCKPGYA 190 200 210 220 230 240 TADGNSSGSI TCLQNGWSAQ PICINSSEKC GPPPPISNGD TTSFLLKVYV PQSRVEYQCQ 250 260 270 280 290 300 PYYELQGSNY VTCSNGEWSE PPRCIHPCII TEENMNKNNI KLKGRSDRKY YAKTGDTIEF 310 320 330 MCKLGYNANT SILSFQAVCR EGIVEYPRCE
	Isoform 2 [UniParc]. Checksum: 401F2F121B468DFA	FASTA	269	30,720
	10 20 30 40 50 60 MLLLINVILT LWVSCANGQV KPCDFPDIKH GGLFHENMRR PYFPVAVGKY YSYYCDEHFE 70 80 90 100 110 120 TPSGSYWDYI HCTQNGWSPA VPCLRKCYFP YLENGYNQNY GRKFVQGNST EVACHPGYGL 130 140 150 160 170 180 PKAQTTVTCT EKGWSPTPRC IRVNSSEKCG PPPPISNGDT TSFLLKVYVP QSRVEYQCQP 190 200 210 220 230 240 YYELQGSNYV TCSNGEWSEP PRCIHPCIIT EENMNKNNIK LKGRSDRKYY AKTGDTIEFM 250 260 CKLGYNANTS ILSFQAVCRE GIVEYPRCE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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, MASS SPECTROMETRY. Tissue: Liver.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	X68679 mRNA. Translation: CAA48639.1. AK298459 mRNA. Translation: BAG60672.1. AL049741 Genomic DNA. Translation: CAB53064.1. BC058009 mRNA. Translation: AAH58009.1.
IPI	IPI00027507. IPI00908535.
PIR	A45222.
RefSeq	NP_001160096.1. NM_001166624.1. NP_066303.2. NM_021023.5.
UniGene	Hs.709217.
3D structure databases
ProteinModelPortal	Q02985.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q02985. 1 interaction.
STRING	9606.ENSP00000356395.
Polymorphism databases
DMDM	13124752.
Proteomic databases
PaxDb	Q02985.
PeptideAtlas	Q02985.
PRIDE	Q02985.
Protocols and materials databases
DNASU	10878.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000367425; ENSP00000356395; ENSG00000116785. ENST00000391985; ENSP00000375845; ENSG00000116785.
GeneID	10878.
KEGG	hsa:10878.
UCSC	uc001gtl.3. human.
Organism-specific databases
CTD	10878.
GeneCards	GC01P196743.
HGNC	HGNC:16980. CFHR3.
MIM	605336. gene.
neXtProt	NX_Q02985.
Orphanet	93581. Atypical hemolytic uremic syndrome with antibody anti-factor H.
PharmGKB	PA134909646.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG146710.
HOGENOM	HOG000049040.
HOVERGEN	HBG005665.
InParanoid	Q02985.
OMA	CIRINST.
PhylomeDB	Q02985.
Enzyme and pathway databases
Reactome	REACT_6900. Immune System.
Gene expression databases
ArrayExpress	Q02985.
Bgee	Q02985.
CleanEx	HS_CFHR3.
Genevestigator	Q02985.
GermOnline	ENSG00000116785. Homo sapiens.
Family and domain databases
InterPro	IPR000436. Sushi_SCR_CCP. [Graphical view]
Pfam	PF00084. Sushi. 4 hits. [Graphical view]
SMART	SM00032. CCP. 4 hits. [Graphical view]
SUPFAM	SSF57535. Complement_control_module. 5 hits.
PROSITE	PS50923. SUSHI. 3 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	10878.
NextBio	41307.
SOURCE	Search...

Entry information

Entry name

FHR3_HUMAN

Accession

Primary (citable) accession number: Q02985
Secondary accession number(s): B4DPR0, Q9UJ16

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 1, 1994
Last sequence update:	February 21, 2001
Last modified:	May 1, 2013
This is version 110 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.