Q92496 (FHR4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Complement factor H-related protein 4
Short name=FHR-4

Gene names

Name:	CFHR4
Synonyms:	CFHL4, FHR4

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	331 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	Involved in complement regulation. Can associate with lipoproteins and may play a role in lipid metabolism.
Subunit structure	Homodimer.
Subcellular location	Secreted.
Tissue specificity	Expressed by the liver and secreted in plasma.
Post-translational modification	Glycosylated.
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 Direct protein sequencing Reference proteome
Gene Ontology (GO)
Cellular_component	extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	lipid transporter activity 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: Q92496-1)

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: Q92496-2)

The sequence of this isoform differs from the canonical sequence as follows:
     20-20: Missing.
     82-82: V → VPCLRTCSKS...CTQDGWLPTV

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 19	19	Potential
	Chain	20 – 331	312	Complement factor H-related protein 4		PRO_0000005899
Regions
	Domain	23 – 85	63	Sushi 1
	Domain	86 – 147	62	Sushi 2
	Domain	148 – 206	59	Sushi 3
	Domain	209 – 267	59	Sushi 4
	Domain	268 – 331	64	Sushi 5
Amino acid modifications
	Glycosylation	127	1	N-linked (GlcNAc...) Potential
	Glycosylation	186	1	N-linked (GlcNAc...) Potential
	Glycosylation	206	1	N-linked (GlcNAc...) Potential
	Glycosylation	310	1	N-linked (GlcNAc...) Potential
	Disulfide bond	24 ↔ 73		By similarity
	Disulfide bond	56 ↔ 84		By similarity
	Disulfide bond	88 ↔ 134		By similarity
	Disulfide bond	117 ↔ 145		By similarity
	Disulfide bond	149 ↔ 193		By similarity
	Disulfide bond	176 ↔ 204		By similarity
	Disulfide bond	211 ↔ 254		By similarity
	Disulfide bond	240 ↔ 265		By similarity
	Disulfide bond	269 ↔ 320		By similarity
	Disulfide bond	303 ↔ 330		By similarity
Natural variations
	Alternative sequence	20	1	Missing in isoform 2.		VSP_046418
	Alternative sequence	82	1	V → VPCLRTCSKSDVEIENGFIS ESSSIYILNEETQYNCKPGY ATAEGNSSGSITCLQNGWST QPICIKFCDMPVFENSRAKS NGMWFKLHDTLDYECYDGYE SSYGNTTDSIVCGEDGWSHL PTCYNSSENCGPPPPISNGD TTSFPQKVYLPWSRVEYQCQ SYYELQGSKYVTCSNGDWSE PPRCISMKPCEFPEIQHGHL YYENTRRPYFPVATGQSYSY YCDQNFVTPSGSYWDYIHCT QDGWLPTV in isoform 2.		VSP_046419
	Natural variant	306	1	G → E. Corresponds to variant rs10494745 [ dbSNP | Ensembl ].		VAR_047151
Experimental info
	Sequence conflict	79	1	S → L in CAA66980. Ref.1
	Sequence conflict	79	1	S → L in AAH74957. Ref.5
Isoform 2:
	Sequence conflict	124	1	E → D in BAF85441. Ref.2
	Sequence conflict	209	1	N → S in BAF85441. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 4, 2008. Version 2. Checksum: 503E04AB4C271424	FASTA	331	37,299
	10 20 30 40 50 60 MLLLINVILT LWVSCANGQE VKPCDFPEIQ HGGLYYKSLR RLYFPAAAGQ SYSYYCDQNF 70 80 90 100 110 120 VTPSGSYWDY IHCTQDGWSP TVPCLRTCSK SDIEIENGFI SESSSIYILN KEIQYKCKPG 130 140 150 160 170 180 YATADGNSSG SITCLQNGWS AQPICIKFCD MPVFENSRAK SNGMRFKLHD TLDYECYDGY 190 200 210 220 230 240 EISYGNTTGS IVCGEDGWSH FPTCYNSSEK CGPPPPISNG DTTSFLLKVY VPQSRVEYQC 250 260 270 280 290 300 QSYYELQGSN YVTCSNGEWS EPPRCIHPCI ITEENMNKNN IQLKGKSDIK YYAKTGDTIE 310 320 330 FMCKLGYNAN TSVLSFQAVC REGIVEYPRC E
	Isoform 2 [UniParc]. Checksum: 5998BCEC347D9EB3	FASTA	577	65,222
	10 20 30 40 50 60 MLLLINVILT LWVSCANGQV KPCDFPEIQH GGLYYKSLRR LYFPAAAGQS YSYYCDQNFV 70 80 90 100 110 120 TPSGSYWDYI HCTQDGWSPT VPCLRTCSKS DVEIENGFIS ESSSIYILNE ETQYNCKPGY 130 140 150 160 170 180 ATAEGNSSGS ITCLQNGWST QPICIKFCDM PVFENSRAKS NGMWFKLHDT LDYECYDGYE 190 200 210 220 230 240 SSYGNTTDSI VCGEDGWSHL PTCYNSSENC GPPPPISNGD TTSFPQKVYL PWSRVEYQCQ 250 260 270 280 290 300 SYYELQGSKY VTCSNGDWSE PPRCISMKPC EFPEIQHGHL YYENTRRPYF PVATGQSYSY 310 320 330 340 350 360 YCDQNFVTPS GSYWDYIHCT QDGWLPTVPC LRTCSKSDIE IENGFISESS SIYILNKEIQ 370 380 390 400 410 420 YKCKPGYATA DGNSSGSITC LQNGWSAQPI CIKFCDMPVF ENSRAKSNGM RFKLHDTLDY 430 440 450 460 470 480 ECYDGYEISY GNTTGSIVCG EDGWSHFPTC YNSSEKCGPP PPISNGDTTS FLLKVYVPQS 490 500 510 520 530 540 RVEYQCQSYY ELQGSNYVTC SNGEWSEPPR CIHPCIITEE NMNKNNIQLK GKSDIKYYAK 550 560 570 TGDTIEFMCK LGYNANTSVL SFQAVCREGI VEYPRCE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The human factor H-related protein 4 (FHR-4). A novel short consensus repeat-containing protein is associated with human triglyceride-rich lipoproteins." Skerka C., Hellwage J., Weber W., Tilkorn A., Buck F., Marti T., Kampen E., Beisiegel U., Zipfel P.F. J. Biol. Chem. 272:5627-5634(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PARTIAL PROTEIN SEQUENCE. Tissue: Liver.
[2]	"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.
[3]	"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].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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).
[6]	"Promoter region of complement factor H-related 4 (fHR-4) gene." Male D.A., Ormsby R.J., Giannakis E., Gordon D.L. Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-19.
[7]	"Biochemical and functional characterization of the factor-H-related protein 4 (FHR-4)." Hellwage J., Skerka C., Zipfel P.F. Immunopharmacology 38:149-157(1997) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	X98337 mRNA. Translation: CAA66980.1. AK292752 mRNA. Translation: BAF85441.1. BX248415, AL139418 Genomic DNA. Translation: CAH70075.1. AL139418, BX248415 Genomic DNA. Translation: CAI21980.1. CH471067 Genomic DNA. Translation: EAW91266.1. BC074957 mRNA. Translation: AAH74957.1. AF190816 Genomic DNA. Translation: AAF05951.1.
IPI	IPI00021578. IPI00644977.
RefSeq	NP_001188479.1. NM_001201550.2. NP_006675.2. NM_006684.4.
UniGene	Hs.710100.
3D structure databases
ProteinModelPortal	Q92496.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q92496. 1 interaction.
STRING	9606.ENSP00000251424.
Polymorphism databases
DMDM	212276433.
Proteomic databases
PaxDb	Q92496.
PRIDE	Q92496.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000251424; ENSP00000251424; ENSG00000134365. ENST00000367416; ENSP00000356386; ENSG00000134365.
GeneID	10877.
KEGG	hsa:10877.
UCSC	uc001gto.3. human.
Organism-specific databases
CTD	10877.
GeneCards	GC01P196857.
H-InvDB	HIX0028795.
HGNC	HGNC:16979. CFHR4.
MIM	605337. gene.
neXtProt	NX_Q92496.
PharmGKB	PA134960382.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG146710.
HOGENOM	HOG000049040.
HOVERGEN	HBG005665.
PhylomeDB	Q92496.
Gene expression databases
ArrayExpress	Q92496.
Bgee	Q92496.
CleanEx	HS_CFHR4.
Genevestigator	Q92496.
GermOnline	ENSG00000134365. 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	10877.
NextBio	41303.
SOURCE	Search...

Entry information

Entry name

FHR4_HUMAN

Accession

Primary (citable) accession number: Q92496
Secondary accession number(s): A8K9N7 , B1ALQ9, C9J7J7, Q9UJY6

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 21, 2001
Last sequence update:	November 4, 2008
Last modified:	May 1, 2013
This is version 106 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.