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Q92496

- FHR4_HUMAN

UniProt

Q92496 - FHR4_HUMAN

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Protein

Complement factor H-related protein 4

Gene

CFHR4

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

Functioni

Involved in complement regulation. Can associate with lipoproteins and may play a role in lipid metabolism.

GO - Molecular functioni

  1. lipid transporter activity Source: ProtInc

GO - Biological processi

  1. lipid transport Source: GOC
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Complement factor H-related protein 4
Short name:
FHR-4
Gene namesi
Name:CFHR4
Synonyms:CFHL4, FHR4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:16979. CFHR4.

Subcellular locationi

GO - Cellular componenti

  1. extracellular region Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134960382.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1919Sequence AnalysisAdd
BLAST
Chaini20 – 578559Complement factor H-related protein 4PRO_5000072607Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi88 ↔ 134PROSITE-ProRule annotation
Disulfide bondi117 ↔ 145PROSITE-ProRule annotation
Glycosylationi127 – 1271N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi149 ↔ 193PROSITE-ProRule annotation
Disulfide bondi176 ↔ 204PROSITE-ProRule annotation
Glycosylationi186 – 1861N-linked (GlcNAc...)Sequence Analysis
Glycosylationi206 – 2061N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi211 ↔ 254PROSITE-ProRule annotation
Disulfide bondi240 ↔ 265PROSITE-ProRule annotation
Disulfide bondi271 ↔ 320PROSITE-ProRule annotation
Disulfide bondi303 ↔ 331PROSITE-ProRule annotation
Disulfide bondi335 ↔ 381PROSITE-ProRule annotation
Disulfide bondi364 ↔ 392PROSITE-ProRule annotation
Glycosylationi374 – 3741N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi396 ↔ 440PROSITE-ProRule annotation
Disulfide bondi423 ↔ 451PROSITE-ProRule annotation
Glycosylationi433 – 4331N-linked (GlcNAc...)Sequence Analysis
Glycosylationi453 – 4531N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi458 ↔ 501PROSITE-ProRule annotation
Disulfide bondi487 ↔ 512PROSITE-ProRule annotation
Disulfide bondi516 ↔ 567PROSITE-ProRule annotation
Disulfide bondi550 ↔ 577PROSITE-ProRule annotation
Glycosylationi557 – 5571N-linked (GlcNAc...)Sequence Analysis

Post-translational modificationi

Glycosylated.

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ92496.
PRIDEiQ92496.

Expressioni

Tissue specificityi

Expressed by the liver and secreted in plasma.

Gene expression databases

BgeeiQ92496.
CleanExiHS_CFHR4.
ExpressionAtlasiQ92496. baseline.
GenevestigatoriQ92496.

Interactioni

Subunit structurei

Homodimer.

Protein-protein interaction databases

BioGridi116085. 3 interactions.
IntActiQ92496. 1 interaction.
STRINGi9606.ENSP00000251424.

Structurei

3D structure databases

ProteinModelPortaliQ92496.
SMRiQ92496. Positions 21-578.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini20 – 8566Sushi 1PROSITE-ProRule annotationAdd
BLAST
Domaini86 – 14762Sushi 2PROSITE-ProRule annotationAdd
BLAST
Domaini148 – 20659Sushi 3PROSITE-ProRule annotationAdd
BLAST
Domaini209 – 26759Sushi 4PROSITE-ProRule annotationAdd
BLAST
Domaini268 – 33265Sushi 5PROSITE-ProRule annotationAdd
BLAST
Domaini333 – 39462Sushi 6PROSITE-ProRule annotationAdd
BLAST
Domaini395 – 45359Sushi 7PROSITE-ProRule annotationAdd
BLAST
Domaini456 – 51459Sushi 8PROSITE-ProRule annotationAdd
BLAST
Domaini515 – 57864Sushi 9PROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi213 – 2164Poly-Pro
Compositional biasi460 – 4634Poly-Pro

Sequence similaritiesi

Contains 9 Sushi (CCP/SCR) domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Sushi

Phylogenomic databases

eggNOGiNOG146710.
GeneTreeiENSGT00760000118803.
HOGENOMiHOG000049040.
HOVERGENiHBG005665.
InParanoidiQ92496.
OMAiQSYSYYC.
OrthoDBiEOG75XGK1.
TreeFamiTF326157.

Family and domain databases

InterProiIPR000436. Sushi_SCR_CCP.
[Graphical view]
PfamiPF00084. Sushi. 8 hits.
[Graphical view]
SMARTiSM00032. CCP. 8 hits.
[Graphical view]
SUPFAMiSSF57535. SSF57535. 8 hits.
PROSITEiPS50923. SUSHI. 6 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q92496-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MLLLINVILT LWVSCANGQE VKPCDFPEIQ HGGLYYKSLR RLYFPAAAGQ
60 70 80 90 100
SYSYYCDQNF VTPSGSYWDY IHCTQDGWSP TVPCLRTCSK SDVEIENGFI
110 120 130 140 150
SESSSIYILN EETQYNCKPG YATAEGNSSG SITCLQNGWS TQPICIKFCD
160 170 180 190 200
MPVFENSRAK SNGMWFKLHD TLDYECYDGY ESSYGNTTDS IVCGEDGWSH
210 220 230 240 250
LPTCYNSSEN CGPPPPISNG DTTSFPQKVY LPWSRVEYQC QSYYELQGSK
260 270 280 290 300
YVTCSNGDWS EPPRCISMKP CEFPEIQHGH LYYENTRRPY FPVATGQSYS
310 320 330 340 350
YYCDQNFVTP SGSYWDYIHC TQDGWLPTVP CLRTCSKSDI EIENGFISES
360 370 380 390 400
SSIYILNKEI QYKCKPGYAT ADGNSSGSIT CLQNGWSAQP ICIKFCDMPV
410 420 430 440 450
FENSRAKSNG MRFKLHDTLD YECYDGYEIS YGNTTGSIVC GEDGWSHFPT
460 470 480 490 500
CYNSSEKCGP PPPISNGDTT SFLLKVYVPQ SRVEYQCQSY YELQGSNYVT
510 520 530 540 550
CSNGEWSEPP RCIHPCIITE ENMNKNNIQL KGKSDIKYYA KTGDTIEFMC
560 570
KLGYNANTSV LSFQAVCREG IVEYPRCE
Length:578
Mass (Da):65,351
Last modified:January 22, 2014 - v3
Checksum:iCB80749443932B3F
GO
Isoform 2 (identifier: Q92496-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     20-20: Missing.

Note: No experimental confirmation available.

Show »
Length:577
Mass (Da):65,222
Checksum:i5998BCEC347D9EB3
GO
Isoform 3 (identifier: Q92496-3) [UniParc]FASTAAdd to Basket

Also known as: FHR-4B

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

Show »
Length:331
Mass (Da):37,299
Checksum:i503E04AB4C271424
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti79 – 791S → L in CAA66980. (PubMed:9038172)Curated
Sequence conflicti79 – 791S → L in AAH74957. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti125 – 1251E → D.1 Publication
Corresponds to variant rs10801578 [ dbSNP | Ensembl ].
VAR_070195
Natural varianti210 – 2101N → S.1 Publication
Corresponds to variant rs7417769 [ dbSNP | Ensembl ].
VAR_070196
Natural varianti553 – 5531G → E.
Corresponds to variant rs10494745 [ dbSNP | Ensembl ].
VAR_047151

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei20 – 201Missing in isoform 2. 1 PublicationVSP_046418
Alternative sequencei80 – 326247Missing in isoform 3. 2 PublicationsVSP_053528Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS41451.1. [Q92496-3]
CCDS55671.1. [Q92496-2]
RefSeqiNP_001188479.1. NM_001201550.2. [Q92496-1]
NP_001188480.1. NM_001201551.1. [Q92496-2]
NP_006675.2. NM_006684.4. [Q92496-3]
UniGeneiHs.710100.

Genome annotation databases

EnsembliENST00000251424; ENSP00000251424; ENSG00000134365. [Q92496-3]
ENST00000367416; ENSP00000356386; ENSG00000134365. [Q92496-2]
ENST00000367418; ENSP00000356388; ENSG00000134365.
GeneIDi10877.
KEGGihsa:10877.
UCSCiuc001gto.3. human. [Q92496-1]

Polymorphism databases

DMDMi212276433.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
CCDSi CCDS41451.1. [Q92496-3 ]
CCDS55671.1. [Q92496-2 ]
RefSeqi NP_001188479.1. NM_001201550.2. [Q92496-1 ]
NP_001188480.1. NM_001201551.1. [Q92496-2 ]
NP_006675.2. NM_006684.4. [Q92496-3 ]
UniGenei Hs.710100.

3D structure databases

ProteinModelPortali Q92496.
SMRi Q92496. Positions 21-578.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116085. 3 interactions.
IntActi Q92496. 1 interaction.
STRINGi 9606.ENSP00000251424.

Polymorphism databases

DMDMi 212276433.

Proteomic databases

PaxDbi Q92496.
PRIDEi Q92496.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000251424 ; ENSP00000251424 ; ENSG00000134365 . [Q92496-3 ]
ENST00000367416 ; ENSP00000356386 ; ENSG00000134365 . [Q92496-2 ]
ENST00000367418 ; ENSP00000356388 ; ENSG00000134365 .
GeneIDi 10877.
KEGGi hsa:10877.
UCSCi uc001gto.3. human. [Q92496-1 ]

Organism-specific databases

CTDi 10877.
GeneCardsi GC01P196857.
GeneReviewsi CFHR4.
H-InvDB HIX0028795.
HGNCi HGNC:16979. CFHR4.
MIMi 605337. gene.
neXtProti NX_Q92496.
PharmGKBi PA134960382.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG146710.
GeneTreei ENSGT00760000118803.
HOGENOMi HOG000049040.
HOVERGENi HBG005665.
InParanoidi Q92496.
OMAi QSYSYYC.
OrthoDBi EOG75XGK1.
TreeFami TF326157.

Miscellaneous databases

ChiTaRSi CFHR4. human.
GeneWikii CFHR4.
GenomeRNAii 10877.
NextBioi 41303.
PROi Q92496.
SOURCEi Search...

Gene expression databases

Bgeei Q92496.
CleanExi HS_CFHR4.
ExpressionAtlasi Q92496. baseline.
Genevestigatori Q92496.

Family and domain databases

InterProi IPR000436. Sushi_SCR_CCP.
[Graphical view ]
Pfami PF00084. Sushi. 8 hits.
[Graphical view ]
SMARTi SM00032. CCP. 8 hits.
[Graphical view ]
SUPFAMi SSF57535. SSF57535. 8 hits.
PROSITEi PS50923. SUSHI. 6 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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.

Entry informationi

Entry nameiFHR4_HUMAN
AccessioniPrimary (citable) accession number: Q92496
Secondary accession number(s): A8K9N7
, B1ALQ9, C9J7J7, Q5DVJ7, Q9UJY6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: January 22, 2014
Last modified: November 26, 2014
This is version 121 of the entry and version 3 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, Direct protein sequencing, 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