UniProtKB - Q92496 (FHR4_HUMAN)
Protein
Complement factor H-related protein 4
Gene
CFHR4
Organism
Homo sapiens (Human)
Status
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
GO - Biological processi
- regulation of complement activation Source: Reactome
Enzyme and pathway databases
PathwayCommonsi | Q92496 |
Reactomei | R-HSA-977606, Regulation of Complement cascade |
Names & Taxonomyi
Protein namesi | Recommended name: Complement factor H-related protein 4Short name: FHR-4 |
Gene namesi | Name:CFHR4 Synonyms:CFHL4, FHR4 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:16979, CFHR4 |
MIMi | 605337, gene |
neXtProti | NX_Q92496 |
VEuPathDBi | HostDB:ENSG00000134365.12 |
Subcellular locationi
Extracellular region or secreted
Extracellular region or secreted
- extracellular region Source: Reactome
Keywords - Cellular componenti
SecretedPathology & Biotechi
Organism-specific databases
DisGeNETi | 10877 |
GeneReviewsi | CFHR4 |
MalaCardsi | CFHR4 |
OpenTargetsi | ENSG00000134365 |
Orphaneti | 93581, Atypical hemolytic uremic syndrome with anti-factor H antibodies |
PharmGKBi | PA134960382 |
Miscellaneous databases
Pharosi | Q92496, Tbio |
Genetic variation databases
BioMutai | CFHR4 |
DMDMi | 212276433 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 19 | Sequence analysisAdd BLAST | 19 | |
ChainiPRO_5000072607 | 20 – 578 | Complement factor H-related protein 4Add BLAST | 559 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 88 ↔ 134 | PROSITE-ProRule annotation | ||
Disulfide bondi | 117 ↔ 145 | PROSITE-ProRule annotation | ||
Glycosylationi | 127 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 149 ↔ 193 | PROSITE-ProRule annotation | ||
Disulfide bondi | 176 ↔ 204 | PROSITE-ProRule annotation | ||
Glycosylationi | 186 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 206 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 211 ↔ 254 | PROSITE-ProRule annotation | ||
Disulfide bondi | 240 ↔ 265 | PROSITE-ProRule annotation | ||
Disulfide bondi | 271 ↔ 320 | PROSITE-ProRule annotation | ||
Disulfide bondi | 303 ↔ 331 | PROSITE-ProRule annotation | ||
Disulfide bondi | 335 ↔ 381 | PROSITE-ProRule annotation | ||
Disulfide bondi | 364 ↔ 392 | PROSITE-ProRule annotation | ||
Glycosylationi | 374 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 396 ↔ 440 | PROSITE-ProRule annotation | ||
Disulfide bondi | 423 ↔ 451 | PROSITE-ProRule annotation | ||
Glycosylationi | 433 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 453 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 458 ↔ 501 | PROSITE-ProRule annotation | ||
Disulfide bondi | 487 ↔ 512 | PROSITE-ProRule annotation | ||
Disulfide bondi | 516 ↔ 567 | PROSITE-ProRule annotation | ||
Disulfide bondi | 550 ↔ 577 | PROSITE-ProRule annotation | ||
Glycosylationi | 557 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Post-translational modificationi
Glycosylated.
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
MassIVEi | Q92496 |
PaxDbi | Q92496 |
PeptideAtlasi | Q92496 |
PRIDEi | Q92496 |
ProteomicsDBi | 75268 [Q92496-1] 8914 |
PTM databases
GlyConnecti | 1928, 8 N-Linked glycans (1 site) |
GlyGeni | Q92496, 8 sites |
iPTMneti | Q92496 |
PhosphoSitePlusi | Q92496 |
Expressioni
Tissue specificityi
Expressed by the liver and secreted in plasma.
Gene expression databases
Bgeei | ENSG00000134365, Expressed in liver and 29 other tissues |
ExpressionAtlasi | Q92496, baseline and differential |
Genevisiblei | Q92496, HS |
Organism-specific databases
HPAi | ENSG00000134365, Tissue enriched (liver) |
Interactioni
Subunit structurei
Homodimer.
Binary interactionsi
Hide detailsIsoform 1 [Q92496-1]
With | #Exp. | IntAct |
---|---|---|
C3 [P01024] | 5 | EBI-22033617,EBI-905851 |
CFB [P00751] | 2 | EBI-22033617,EBI-1223668 |
CFP [P27918] | 2 | EBI-22033617,EBI-9038570 |
CRP [P02741] | 23 | EBI-22033617,EBI-1395983 |
Isoform 3 [Q92496-3]
With | #Exp. | IntAct |
---|---|---|
CFB [P00751] | 2 | EBI-22033638,EBI-1223668 |
CFP [P27918] | 2 | EBI-22033638,EBI-9038570 |
CRP [P02741] | 5 | EBI-22033638,EBI-1395983 |
Protein-protein interaction databases
BioGRIDi | 116085, 3 interactors |
IntActi | Q92496, 10 interactors |
STRINGi | 9606.ENSP00000356386 |
Miscellaneous databases
RNActi | Q92496, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 20 – 85 | Sushi 1PROSITE-ProRule annotationAdd BLAST | 66 | |
Domaini | 86 – 147 | Sushi 2PROSITE-ProRule annotationAdd BLAST | 62 | |
Domaini | 148 – 206 | Sushi 3PROSITE-ProRule annotationAdd BLAST | 59 | |
Domaini | 209 – 267 | Sushi 4PROSITE-ProRule annotationAdd BLAST | 59 | |
Domaini | 268 – 332 | Sushi 5PROSITE-ProRule annotationAdd BLAST | 65 | |
Domaini | 333 – 394 | Sushi 6PROSITE-ProRule annotationAdd BLAST | 62 | |
Domaini | 395 – 453 | Sushi 7PROSITE-ProRule annotationAdd BLAST | 59 | |
Domaini | 456 – 514 | Sushi 8PROSITE-ProRule annotationAdd BLAST | 59 | |
Domaini | 515 – 578 | Sushi 9PROSITE-ProRule annotationAdd BLAST | 64 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 213 – 216 | Poly-Pro | 4 | |
Compositional biasi | 460 – 463 | Poly-Pro | 4 |
Keywords - Domaini
Repeat, Signal, SushiPhylogenomic databases
eggNOGi | ENOG502SM0B, Eukaryota |
GeneTreei | ENSGT00940000154386 |
HOGENOMi | CLU_020107_6_0_1 |
InParanoidi | Q92496 |
OMAi | PRCRLMK |
OrthoDBi | 296899at2759 |
TreeFami | TF326157 |
Family and domain databases
CDDi | cd00033, CCP, 4 hits |
InterProi | View protein in InterPro IPR035976, Sushi/SCR/CCP_sf IPR000436, Sushi_SCR_CCP_dom |
Pfami | View protein in Pfam PF00084, Sushi, 8 hits |
SMARTi | View protein in SMART SM00032, CCP, 8 hits |
SUPFAMi | SSF57535, SSF57535, 8 hits |
PROSITEi | View protein in PROSITE PS50923, SUSHI, 6 hits |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q92496-1) [UniParc]FASTAAdd to basket
Also known as: FHR-4A
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A0C4DH21 | A0A0C4DH21_HUMAN | Complement factor H-related protein... | CFHR4 | 331 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 79 | S → L in CAA66980 (PubMed:9038172).Curated | 1 | |
Sequence conflicti | 79 | S → L in AAH74957 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070195 | 125 | E → D1 PublicationCorresponds to variant dbSNP:rs10801578Ensembl. | 1 | |
Natural variantiVAR_070196 | 210 | N → S1 PublicationCorresponds to variant dbSNP:rs7417769Ensembl. | 1 | |
Natural variantiVAR_047151 | 553 | G → E. Corresponds to variant dbSNP:rs10494745Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_046418 | 20 | Missing in isoform 2. 1 Publication | 1 | |
Alternative sequenceiVSP_053528 | 80 – 326 | Missing in isoform 3. 2 PublicationsAdd BLAST | 247 |
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 AL139418 Genomic DNA No translation available. BX248415 Genomic DNA No translation available. 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] |
Genome annotation databases
Ensembli | ENST00000251424; ENSP00000251424; ENSG00000134365 [Q92496-3] ENST00000367416; ENSP00000356386; ENSG00000134365 [Q92496-2] ENST00000608469; ENSP00000477162; ENSG00000134365 [Q92496-1] |
GeneIDi | 10877 |
KEGGi | hsa:10877 |
UCSCi | uc001gto.4, human [Q92496-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 AL139418 Genomic DNA No translation available. BX248415 Genomic DNA No translation available. 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] |
3D structure databases
SMRi | Q92496 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 116085, 3 interactors |
IntActi | Q92496, 10 interactors |
STRINGi | 9606.ENSP00000356386 |
PTM databases
GlyConnecti | 1928, 8 N-Linked glycans (1 site) |
GlyGeni | Q92496, 8 sites |
iPTMneti | Q92496 |
PhosphoSitePlusi | Q92496 |
Genetic variation databases
BioMutai | CFHR4 |
DMDMi | 212276433 |
Proteomic databases
MassIVEi | Q92496 |
PaxDbi | Q92496 |
PeptideAtlasi | Q92496 |
PRIDEi | Q92496 |
ProteomicsDBi | 75268 [Q92496-1] 8914 |
Protocols and materials databases
Antibodypediai | 55923, 69 antibodies |
Genome annotation databases
Ensembli | ENST00000251424; ENSP00000251424; ENSG00000134365 [Q92496-3] ENST00000367416; ENSP00000356386; ENSG00000134365 [Q92496-2] ENST00000608469; ENSP00000477162; ENSG00000134365 [Q92496-1] |
GeneIDi | 10877 |
KEGGi | hsa:10877 |
UCSCi | uc001gto.4, human [Q92496-1] |
Organism-specific databases
CTDi | 10877 |
DisGeNETi | 10877 |
GeneCardsi | CFHR4 |
GeneReviewsi | CFHR4 |
HGNCi | HGNC:16979, CFHR4 |
HPAi | ENSG00000134365, Tissue enriched (liver) |
MalaCardsi | CFHR4 |
MIMi | 605337, gene |
neXtProti | NX_Q92496 |
OpenTargetsi | ENSG00000134365 |
Orphaneti | 93581, Atypical hemolytic uremic syndrome with anti-factor H antibodies |
PharmGKBi | PA134960382 |
VEuPathDBi | HostDB:ENSG00000134365.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502SM0B, Eukaryota |
GeneTreei | ENSGT00940000154386 |
HOGENOMi | CLU_020107_6_0_1 |
InParanoidi | Q92496 |
OMAi | PRCRLMK |
OrthoDBi | 296899at2759 |
TreeFami | TF326157 |
Enzyme and pathway databases
PathwayCommonsi | Q92496 |
Reactomei | R-HSA-977606, Regulation of Complement cascade |
Miscellaneous databases
BioGRID-ORCSi | 10877, 8 hits in 877 CRISPR screens |
GeneWikii | CFHR4 |
GenomeRNAii | 10877 |
Pharosi | Q92496, Tbio |
PROi | PR:Q92496 |
RNActi | Q92496, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000134365, Expressed in liver and 29 other tissues |
ExpressionAtlasi | Q92496, baseline and differential |
Genevisiblei | Q92496, HS |
Family and domain databases
CDDi | cd00033, CCP, 4 hits |
InterProi | View protein in InterPro IPR035976, Sushi/SCR/CCP_sf IPR000436, Sushi_SCR_CCP_dom |
Pfami | View protein in Pfam PF00084, Sushi, 8 hits |
SMARTi | View protein in SMART SM00032, CCP, 8 hits |
SUPFAMi | SSF57535, SSF57535, 8 hits |
PROSITEi | View protein in PROSITE PS50923, SUSHI, 6 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | FHR4_HUMAN | |
Accessioni | Q92496Primary (citable) accession number: Q92496 Secondary accession number(s): A8K9N7 Q9UJY6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 21, 2001 |
Last sequence update: | January 22, 2014 | |
Last modified: | February 10, 2021 | |
This is version 164 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot