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Protein

Complement factor H-related protein 4

Gene

CFHR4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • lipid transporter activity Source: ProtInc
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000134365-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:16979. CFHR4.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi10877.
OpenTargetsiENSG00000134365.
PharmGKBiPA134960382.

Polymorphism and mutation databases

BioMutaiCFHR4.
DMDMi212276433.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 19Sequence analysisAdd BLAST19
ChainiPRO_500007260720 – 578Complement factor H-related protein 4Add BLAST559

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi88 ↔ 134PROSITE-ProRule annotation
Disulfide bondi117 ↔ 145PROSITE-ProRule annotation
Glycosylationi127N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi149 ↔ 193PROSITE-ProRule annotation
Disulfide bondi176 ↔ 204PROSITE-ProRule annotation
Glycosylationi186N-linked (GlcNAc...)Sequence analysis1
Glycosylationi206N-linked (GlcNAc...)Sequence analysis1
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
Glycosylationi374N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi396 ↔ 440PROSITE-ProRule annotation
Disulfide bondi423 ↔ 451PROSITE-ProRule annotation
Glycosylationi433N-linked (GlcNAc...)Sequence analysis1
Glycosylationi453N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi458 ↔ 501PROSITE-ProRule annotation
Disulfide bondi487 ↔ 512PROSITE-ProRule annotation
Disulfide bondi516 ↔ 567PROSITE-ProRule annotation
Disulfide bondi550 ↔ 577PROSITE-ProRule annotation
Glycosylationi557N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

Glycosylated.

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ92496.
PeptideAtlasiQ92496.
PRIDEiQ92496.

PTM databases

iPTMnetiQ92496.
PhosphoSitePlusiQ92496.

Expressioni

Tissue specificityi

Expressed by the liver and secreted in plasma.

Gene expression databases

BgeeiENSG00000134365.
CleanExiHS_CFHR4.
ExpressionAtlasiQ92496. baseline and differential.
GenevisibleiQ92496. HS.

Interactioni

Subunit structurei

Homodimer.

Protein-protein interaction databases

BioGridi116085. 3 interactors.
IntActiQ92496. 1 interactor.
STRINGi9606.ENSP00000356386.

Structurei

3D structure databases

ProteinModelPortaliQ92496.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini20 – 85Sushi 1PROSITE-ProRule annotationAdd BLAST66
Domaini86 – 147Sushi 2PROSITE-ProRule annotationAdd BLAST62
Domaini148 – 206Sushi 3PROSITE-ProRule annotationAdd BLAST59
Domaini209 – 267Sushi 4PROSITE-ProRule annotationAdd BLAST59
Domaini268 – 332Sushi 5PROSITE-ProRule annotationAdd BLAST65
Domaini333 – 394Sushi 6PROSITE-ProRule annotationAdd BLAST62
Domaini395 – 453Sushi 7PROSITE-ProRule annotationAdd BLAST59
Domaini456 – 514Sushi 8PROSITE-ProRule annotationAdd BLAST59
Domaini515 – 578Sushi 9PROSITE-ProRule annotationAdd BLAST64

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi213 – 216Poly-Pro4
Compositional biasi460 – 463Poly-Pro4

Sequence similaritiesi

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

Keywords - Domaini

Repeat, Signal, Sushi

Phylogenomic databases

eggNOGiENOG410IVNT. Eukaryota.
ENOG411156Y. LUCA.
GeneTreeiENSGT00850000132282.
HOGENOMiHOG000049040.
HOVERGENiHBG005665.
InParanoidiQ92496.
OMAiCTQDGWL.
OrthoDBiEOG091G00V4.
TreeFamiTF326157.

Family and domain databases

CDDicd00033. CCP. 4 hits.
InterProiIPR000436. Sushi_SCR_CCP_dom.
[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. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Sequence conflicti79S → L in CAA66980 (PubMed:9038172).Curated1
Sequence conflicti79S → L in AAH74957 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070195125E → D.1 PublicationCorresponds to variant rs10801578dbSNPEnsembl.1
Natural variantiVAR_070196210N → S.1 PublicationCorresponds to variant rs7417769dbSNPEnsembl.1
Natural variantiVAR_047151553G → E.Corresponds to variant rs10494745dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04641820Missing in isoform 2. 1 Publication1
Alternative sequenceiVSP_05352880 – 326Missing in isoform 3. 2 PublicationsAdd BLAST247

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]
GeneIDi10877.
KEGGihsa:10877.
UCSCiuc001gto.4. human. [Q92496-1]

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.
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.

3D structure databases

ProteinModelPortaliQ92496.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116085. 3 interactors.
IntActiQ92496. 1 interactor.
STRINGi9606.ENSP00000356386.

PTM databases

iPTMnetiQ92496.
PhosphoSitePlusiQ92496.

Polymorphism and mutation databases

BioMutaiCFHR4.
DMDMi212276433.

Proteomic databases

PaxDbiQ92496.
PeptideAtlasiQ92496.
PRIDEiQ92496.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000251424; ENSP00000251424; ENSG00000134365. [Q92496-3]
ENST00000367416; ENSP00000356386; ENSG00000134365. [Q92496-2]
GeneIDi10877.
KEGGihsa:10877.
UCSCiuc001gto.4. human. [Q92496-1]

Organism-specific databases

CTDi10877.
DisGeNETi10877.
GeneCardsiCFHR4.
GeneReviewsiCFHR4.
H-InvDBHIX0028795.
HGNCiHGNC:16979. CFHR4.
MIMi605337. gene.
neXtProtiNX_Q92496.
OpenTargetsiENSG00000134365.
PharmGKBiPA134960382.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IVNT. Eukaryota.
ENOG411156Y. LUCA.
GeneTreeiENSGT00850000132282.
HOGENOMiHOG000049040.
HOVERGENiHBG005665.
InParanoidiQ92496.
OMAiCTQDGWL.
OrthoDBiEOG091G00V4.
TreeFamiTF326157.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000134365-MONOMER.

Miscellaneous databases

ChiTaRSiCFHR4. human.
GeneWikiiCFHR4.
GenomeRNAii10877.
PROiQ92496.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000134365.
CleanExiHS_CFHR4.
ExpressionAtlasiQ92496. baseline and differential.
GenevisibleiQ92496. HS.

Family and domain databases

CDDicd00033. CCP. 4 hits.
InterProiIPR000436. Sushi_SCR_CCP_dom.
[Graphical view]
PfamiPF00084. Sushi. 8 hits.
[Graphical view]
SMARTiSM00032. CCP. 8 hits.
[Graphical view]
SUPFAMiSSF57535. SSF57535. 8 hits.
PROSITEiPS50923. SUSHI. 6 hits.
[Graphical view]
ProtoNetiSearch...

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 30, 2016
This is version 137 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.