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Q92496 (FHR4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 114. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Complement factor H-related protein 4

Short name=FHR-4
Gene names
Name:CFHR4
Synonyms:CFHL4, FHR4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length578 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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 9 Sushi (CCP/SCR) domains.

Ontologies

Keywords
   Cellular componentSecreted
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Signal
Sushi
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processlipid transport

Traceable author statement Ref.1. Source: GOC

   Cellular_componentextracellular region

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionlipid transporter activity

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q92496-1)

Also known as: FHR-4A;

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.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q92496-3)

Also known as: FHR-4B;

The sequence of this isoform differs from the canonical sequence as follows:
     80-326: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1919 Potential
Chain20 – 578559Complement factor H-related protein 4
PRO_5000072607

Regions

Domain20 – 8566Sushi 1
Domain86 – 14762Sushi 2
Domain148 – 20659Sushi 3
Domain209 – 26759Sushi 4
Domain268 – 33265Sushi 5
Domain333 – 39462Sushi 6
Domain395 – 45359Sushi 7
Domain456 – 51459Sushi 8
Domain515 – 57864Sushi 9
Compositional bias213 – 2164Poly-Pro
Compositional bias460 – 4634Poly-Pro

Amino acid modifications

Glycosylation1271N-linked (GlcNAc...) Potential
Glycosylation1861N-linked (GlcNAc...) Potential
Glycosylation2061N-linked (GlcNAc...) Potential
Glycosylation3741N-linked (GlcNAc...) Potential
Glycosylation4331N-linked (GlcNAc...) Potential
Glycosylation4531N-linked (GlcNAc...) Potential
Glycosylation5571N-linked (GlcNAc...) Potential
Disulfide bond88 ↔ 134 By similarity
Disulfide bond117 ↔ 145 By similarity
Disulfide bond149 ↔ 193 By similarity
Disulfide bond176 ↔ 204 By similarity
Disulfide bond211 ↔ 254 By similarity
Disulfide bond240 ↔ 265 By similarity
Disulfide bond271 ↔ 320 By similarity
Disulfide bond303 ↔ 331 By similarity
Disulfide bond335 ↔ 381 By similarity
Disulfide bond364 ↔ 392 By similarity
Disulfide bond396 ↔ 440 By similarity
Disulfide bond423 ↔ 451 By similarity
Disulfide bond458 ↔ 501 By similarity
Disulfide bond487 ↔ 512 By similarity
Disulfide bond516 ↔ 567 By similarity
Disulfide bond550 ↔ 577 By similarity

Natural variations

Alternative sequence201Missing in isoform 2.
VSP_046418
Alternative sequence80 – 326247Missing in isoform 3.
VSP_053528
Natural variant1251E → D. Ref.2
Corresponds to variant rs10801578 [ dbSNP | Ensembl ].
VAR_070195
Natural variant2101N → S. Ref.3
Corresponds to variant rs7417769 [ dbSNP | Ensembl ].
VAR_070196
Natural variant5531G → E.
Corresponds to variant rs10494745 [ dbSNP | Ensembl ].
VAR_047151

Experimental info

Sequence conflict791S → L in CAA66980. Ref.1
Sequence conflict791S → L in AAH74957. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (FHR-4A) [UniParc].

Last modified January 22, 2014. Version 3.
Checksum: CB80749443932B3F

FASTA57865,351
        10         20         30         40         50         60 
MLLLINVILT LWVSCANGQE VKPCDFPEIQ HGGLYYKSLR RLYFPAAAGQ SYSYYCDQNF 

        70         80         90        100        110        120 
VTPSGSYWDY IHCTQDGWSP TVPCLRTCSK SDVEIENGFI SESSSIYILN EETQYNCKPG 

       130        140        150        160        170        180 
YATAEGNSSG SITCLQNGWS TQPICIKFCD MPVFENSRAK SNGMWFKLHD TLDYECYDGY 

       190        200        210        220        230        240 
ESSYGNTTDS IVCGEDGWSH LPTCYNSSEN CGPPPPISNG DTTSFPQKVY LPWSRVEYQC 

       250        260        270        280        290        300 
QSYYELQGSK YVTCSNGDWS EPPRCISMKP CEFPEIQHGH LYYENTRRPY FPVATGQSYS 

       310        320        330        340        350        360 
YYCDQNFVTP SGSYWDYIHC TQDGWLPTVP CLRTCSKSDI EIENGFISES SSIYILNKEI 

       370        380        390        400        410        420 
QYKCKPGYAT ADGNSSGSIT CLQNGWSAQP ICIKFCDMPV FENSRAKSNG MRFKLHDTLD 

       430        440        450        460        470        480 
YECYDGYEIS YGNTTGSIVC GEDGWSHFPT CYNSSEKCGP PPPISNGDTT SFLLKVYVPQ 

       490        500        510        520        530        540 
SRVEYQCQSY YELQGSNYVT CSNGEWSEPP RCIHPCIITE ENMNKNNIQL KGKSDIKYYA 

       550        560        570 
KTGDTIEFMC KLGYNANTSV LSFQAVCREG IVEYPRCE 

« Hide

Isoform 2 [UniParc].

Checksum: 5998BCEC347D9EB3
Show »

FASTA57765,222
Isoform 3 (FHR-4B) [UniParc].

Checksum: 503E04AB4C271424
Show »

FASTA33137,299

References

« Hide '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 3), PARTIAL PROTEIN SEQUENCE.
Tissue: Liver.
[2]"FHR-4A: a new factor H-related protein is encoded by the human FHR-4 gene."
Jozsi M., Richter H., Loschmann I., Skerka C., Buck F., Beisiegel U., Erdei A., Zipfel P.F.
Eur. J. Hum. Genet. 13:321-329(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUSHI DOMAINS, ALTERNATIVE SPLICING, VARIANT ASP-125.
Tissue: Liver.
[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. expand/collapse author list , 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), VARIANT SER-210.
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. expand/collapse author list , 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]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. expand/collapse author list , 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].
[6]"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 3).
[7]"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.
[8]"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.
AJ640130 mRNA. Translation: CAG26679.2.
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.
RefSeqNP_001188479.1. NM_001201550.2.
NP_001188480.1. NM_001201551.1.
NP_006675.2. NM_006684.4.
UniGeneHs.710100.

3D structure databases

ProteinModelPortalQ92496.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116085. 3 interactions.
IntActQ92496. 1 interaction.
STRING9606.ENSP00000251424.

Polymorphism databases

DMDM212276433.

Proteomic databases

PaxDbQ92496.
PRIDEQ92496.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000251424; ENSP00000251424; ENSG00000134365. [Q92496-3]
ENST00000367416; ENSP00000356386; ENSG00000134365. [Q92496-2]
ENST00000367418; ENSP00000356388; ENSG00000134365.
GeneID10877.
KEGGhsa:10877.
UCSCuc001gto.3. human. [Q92496-1]

Organism-specific databases

CTD10877.
GeneCardsGC01P196857.
H-InvDBHIX0028795.
HGNCHGNC:16979. CFHR4.
MIM605337. gene.
neXtProtNX_Q92496.
PharmGKBPA134960382.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG146710.
HOGENOMHOG000049040.
HOVERGENHBG005665.
OMAQSYSYYC.
OrthoDBEOG75XGK1.
TreeFamTF326157.

Gene expression databases

ArrayExpressQ92496.
BgeeQ92496.
CleanExHS_CFHR4.
GenevestigatorQ92496.

Family and domain databases

InterProIPR000436. Sushi_SCR_CCP.
[Graphical view]
PfamPF00084. Sushi. 8 hits.
[Graphical view]
SMARTSM00032. CCP. 8 hits.
[Graphical view]
SUPFAMSSF57535. SSF57535. 8 hits.
PROSITEPS50923. SUSHI. 6 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCFHR4.
GenomeRNAi10877.
NextBio41303.
PROQ92496.
SOURCESearch...

Entry information

Entry nameFHR4_HUMAN
AccessionPrimary (citable) accession number: Q92496
Secondary accession number(s): A8K9N7 expand/collapse secondary AC list , B1ALQ9, C9J7J7, Q5DVJ7, Q9UJY6
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: January 22, 2014
Last modified: April 16, 2014
This is version 114 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM