Q03591 (FHR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	CFHR1
Synonyms:	CFHL, CFHL1, CFHL1P, CFHR1P, FHR1, HFL1, HFL2

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. 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 component	Secreted
Coding sequence diversity	Polymorphism
Domain	Repeat Signal Sushi
PTM	Disulfide bond Glycoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	complement activation Traceable author statement Ref.6. Source: ProtInc
Cellular_component	extracellular space Traceable author statement Ref.6. Source: ProtInc
Complete GO annotation...

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 1		PRO_0000005896
Regions
	Domain	22 – 84	63	Sushi 1
	Domain	85 – 142	58	Sushi 2
	Domain	145 – 203	59	Sushi 3
	Domain	206 – 264	59	Sushi 4
	Domain	273 – 329	57	Sushi 5
Amino acid modifications
	Glycosylation	126	1	N-linked (GlcNAc...) Ref.9
	Glycosylation	194	1	N-linked (GlcNAc...) Ref.9
	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	147 ↔ 190		By similarity
	Disulfide bond	176 ↔ 201		By similarity
	Disulfide bond	208 ↔ 251		By similarity
	Disulfide bond	237 ↔ 262		By similarity
	Disulfide bond	266 ↔ 317		By similarity
	Disulfide bond	300 ↔ 327		By similarity
Natural variations
	Natural variant	157	1	H → Y. Ref.1 Ref.3 Ref.6 Corresponds to variant rs425757 [ dbSNP | Ensembl ].		VAR_001980
	Natural variant	159	1	L → V. Ref.1 Ref.3 Ref.6		VAR_001981
	Natural variant	175	1	E → Q. Ref.1 Ref.3 Ref.6 Corresponds to variant rs388862 [ dbSNP | Ensembl ].		VAR_001982
	Natural variant	296	1	A → V. Corresponds to variant rs16840561 [ dbSNP | Ensembl ].		VAR_048816
Experimental info
	Sequence conflict	71	1	T → N in CAA39666. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Q03591 [UniParc]. Last modified December 16, 2008. Version 2. Checksum: C0A1B38B8B34B6EF	FASTA	330	37,651
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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, MASS SPECTROMETRY. 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.

IPI

IPI00011264.

PIR

I56100.

RefSeq

NP_002104.2. NM_002113.2.

UniGene

Hs.575869.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
3ZD2	X-ray	1.99	A/B	19-143	[»]

ProteinModelPortal

Q03591.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q03591. 1 interaction.

STRING

9606.ENSP00000314299.

Polymorphism databases

DMDM

218512041.

Proteomic databases

PaxDb

Q03591.

PeptideAtlas

Q03591.

PRIDE

Q03591.

Protocols and materials databases

DNASU

3078.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000320493; ENSP00000314299; ENSG00000244414.

GeneID

3078.

KEGG

hsa:3078.

UCSC

uc001gtm.3. human.

Organism-specific databases

CTD

3078.

GeneCards

GC01P196788.

HGNC

HGNC:4888. CFHR1.

HPA

HPA038915.
HPA038922.
HPA040726.

MIM

134371. gene.

neXtProt

NX_Q03591.

Orphanet

93581. Atypical hemolytic uremic syndrome with antibody anti-factor H.

PharmGKB

PA29265.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG146886.

HOGENOM

HOG000049040.

HOVERGEN

HBG005665.

InParanoid

Q03591.

OMA

WLPTPKC.

PhylomeDB

Q03591.

Gene expression databases

ArrayExpress

Q03591.

Bgee

Q03591.

Genevestigator

Q03591.

GermOnline

ENSG00000080910. Homo sapiens.

Family and domain databases

InterPro

IPR000436. Sushi_SCR_CCP.
[Graphical view]

Pfam

PF00084. Sushi. 5 hits.
[Graphical view]

SMART

SM00032. CCP. 5 hits.
[Graphical view]

SUPFAM

SSF57535. Complement_control_module. 5 hits.

PROSITE

PS50923. SUSHI. 4 hits.
[Graphical view]

ProtoNet

Search...

Other

GenomeRNAi

3078.

NextBio

12189.

SOURCE

Search...

Entry information

Entry name

FHR1_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 112 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.