Human Gene CFHR5 (ENST00000256785.5) from GENCODE V44
  Description: Homo sapiens complement factor H related 5 (CFHR5), mRNA. (from RefSeq NM_030787)
RefSeq Summary (NM_030787): This gene is a member of a small complement factor H (CFH) gene cluster on chromosome 1. Each member of this gene family contains multiple short consensus repeats (SCRs) typical of regulators of complement activation. The protein encoded by this gene has nine SCRs with the first two repeats having heparin binding properties, a region within repeats 5-7 having heparin binding and C reactive protein binding properties, and the C-terminal repeats being similar to a complement component 3 b (C3b) binding domain. This protein co-localizes with C3, binds C3b in a dose-dependent manner, and is recruited to tissues damaged by C-reactive protein. Allelic variations in this gene have been associated, but not causally linked, with two different forms of kidney disease: membranoproliferative glomerulonephritis type II (MPGNII) and hemolytic uraemic syndrome (HUS). [provided by RefSeq, Jan 2010]. Sequence Note: An in-frame AUG is located 24 codons upstream of the annotated translation start site but is not being annotated as a start site since it is not conserved and is in a weak Kozak sequence context.
Gencode Transcript: ENST00000256785.5
Gencode Gene: ENSG00000134389.11
Transcript (Including UTRs)
   Position: hg38 chr1:196,977,556-197,009,678 Size: 32,123 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg38 chr1:196,977,665-197,008,683 Size: 31,019 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:196,977,556-197,009,678)mRNA (may differ from genome)Protein (569 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FHR5_HUMAN
DESCRIPTION: RecName: Full=Complement factor H-related protein 5; Short=FHR-5; Flags: Precursor;
FUNCTION: Involved in complement regulation.
SUBUNIT: Binds C3b in vitro.
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma.
DISEASE: Note=Defects in CFHR5 have been found in patients with atypical hemolytic uremic syndrome and may contribute to the disease. Atypical hemolytic uremic syndrome is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. Susceptibility to the development of atypical hemolytic uremic syndrome can be conferred by mutations in various components of or regulatory factors in the complement cascade system. Other genes may play a role in modifying the phenotype.
SIMILARITY: Contains 9 Sushi (CCP/SCR) domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CFHR5
Diseases sorted by gene-association score: nephropathy due to cfhr5 deficiency* (1000), hemolytic uremic syndrome, atypical 1* (143), dense deposit disease/membranoproliferative glomerulonephritis type ii* (100), cfhr5-related dense deposit disease / membranoproliferative glomerulonephritis type ii* (100), glomerulonephritis (44), membranoproliferative glomerulonephritis (17), hemolytic-uremic syndrome (11), c3 glomerulopathy (10), dense deposit disease (9), macular degeneration, age-related, 1 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 24.83 RPKM in Liver
Total median expression: 24.92 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -16.40109-0.150 Picture PostScript Text
3' UTR -210.10995-0.211 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016060 - Complement_control_module
IPR000436 - Sushi_SCR_CCP

Pfam Domains:
PF00084 - Sushi repeat (SCR repeat)

ModBase Predicted Comparative 3D Structure on Q9BXR6
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
      
      
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0042803 protein homodimerization activity
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0006957 complement activation, alternative pathway
GO:0030449 regulation of complement activation
GO:0032091 negative regulation of protein binding
GO:0045919 positive regulation of cytolysis

Cellular Component:
GO:0005576 extracellular region
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  AK314026 - Homo sapiens cDNA, FLJ94686, highly similar to Homo sapiens complement factor H-related 5 (CFHL5), mRNA.
BC026282 - Homo sapiens complement factor H-related 5, mRNA (cDNA clone IMAGE:4733780), partial cds.
BC111773 - Homo sapiens complement factor H-related 5, mRNA (cDNA clone MGC:133240 IMAGE:40034462), complete cds.
AF295327 - Homo sapiens complement factor H-related protein 5 mRNA, complete cds.
AB590626 - Synthetic construct DNA, clone: pFN21AE1991, Homo sapiens CFHR5 gene for complement factor H-related 5, without stop codon, in Flexi system.
KJ894839 - Synthetic construct Homo sapiens clone ccsbBroadEn_04233 CFHR5 gene, encodes complete protein.
KR711558 - Synthetic construct Homo sapiens clone CCSBHm_00025975 CFHR5 (CFHR5) mRNA, encodes complete protein.
KR711559 - Synthetic construct Homo sapiens clone CCSBHm_00025977 CFHR5 (CFHR5) mRNA, encodes complete protein.
KR711560 - Synthetic construct Homo sapiens clone CCSBHm_00025978 CFHR5 (CFHR5) mRNA, encodes complete protein.
KR711561 - Synthetic construct Homo sapiens clone CCSBHm_00025979 CFHR5 (CFHR5) mRNA, encodes complete protein.
KR712261 - Synthetic construct Homo sapiens clone CCSBHm_00900225 CFHR5 (CFHR5) mRNA, encodes complete protein.
KR712266 - Synthetic construct Homo sapiens clone CCSBHm_00900230 CFHR5 (CFHR5) mRNA, encodes complete protein.
JD291136 - Sequence 272160 from Patent EP1572962.
JD147961 - Sequence 128985 from Patent EP1572962.
JD338547 - Sequence 319571 from Patent EP1572962.
JD420836 - Sequence 401860 from Patent EP1572962.
JD114030 - Sequence 95054 from Patent EP1572962.
JD257936 - Sequence 238960 from Patent EP1572962.
JD333398 - Sequence 314422 from Patent EP1572962.
JD303756 - Sequence 284780 from Patent EP1572962.
JD429071 - Sequence 410095 from Patent EP1572962.
JD503965 - Sequence 484989 from Patent EP1572962.
JD502860 - Sequence 483884 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9BXR6 (Reactome details) participates in the following event(s):

R-HSA-8851436 CFHR dimers bind C3b
R-HSA-977606 Regulation of Complement cascade
R-HSA-166658 Complement cascade
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: CFHL5, ENST00000256785.1, ENST00000256785.2, ENST00000256785.3, ENST00000256785.4, FHR5, FHR5_HUMAN, NM_030787, Q2NKK2, Q9BXR6, uc001gts.1, uc001gts.2, uc001gts.3, uc001gts.4, uc001gts.5, uc001gts.6
UCSC ID: ENST00000256785.5
RefSeq Accession: NM_030787
Protein: Q9BXR6 (aka FHR5_HUMAN)
CCDS: CCDS1387.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CFHR5:
mpgn (C3 Glomerulopathy)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.