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
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.
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.
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.
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):