ENSG00000134389


Homo sapiens

Features
Gene ID: ENSG00000134389
  
Biological name :CFHR5
  
Synonyms : CFHR5 / complement factor H related 5 / Q9BXR6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q31.3
Gene start: 196977556
Gene end: 197009674
  
Corresponding Affymetrix probe sets: 208088_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000256785
NCBI entrez gene - 81494     See in Manteia.
OMIM - 608593
RefSeq - NM_030787
RefSeq - XM_011510020
RefSeq Peptide - NP_110414
swissprot - Q9BXR6
Ensembl - ENSG00000134389
  
Related genetic diseases (OMIM): 614809 - Nephropathy due to CFHR5 deficiency, 614809
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ENSGALG00000002431Gallus gallus
 Cfhr1ENSMUSG00000057037Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CFH / P08603 / complement factor HENSG0000000097153
CFHR1 / Q03591 / complement factor H related 1ENSG0000024441437
CFHR2 / P36980 / complement factor H related 2ENSG0000008091034
BX248415.1ENSG0000027691134
F13B / P05160 / coagulation factor XIII B chainENSG0000014327830
CFHR4 / Q92496 / complement factor H related 4ENSG0000013436526
CFHR3 / Q02985 / complement factor H related 3ENSG0000011678518
SELP / P16109 / selectin PENSG0000017417517
SELE / P16581 / selectin EENSG0000000790816
C4BPA / P04003 / complement component 4 binding protein alphaENSG0000012383815
APOH / P02749 / apolipoprotein HENSG0000009158312
CD46 / P15529 / CD46 moleculeENSG0000011733512
CD55 / P08174 / CD55 molecule (Cromer blood group)ENSG0000019635211
SELL / P14151 / selectin LENSG000001884048


Protein motifs (from Interpro)
Interpro ID Name
 IPR000436  Sushi/SCR/CCP domain
 IPR035976  Sushi/SCR/CCP superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006957 complement activation, alternative pathway NAS
 biological_processGO:0030449 regulation of complement activation TAS
 biological_processGO:0032091 negative regulation of protein binding IDA
 biological_processGO:0045919 positive regulation of cytolysis IMP
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0032991 protein-containing complex IMP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IMP
 molecular_functionGO:0046982 protein heterodimerization activity IDA


Pathways (from Reactome)
Pathway description
Regulation of Complement cascade


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000099 Glomerulonephritis 
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 HP:0000790 Hematuria "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators]
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 HP:0003676 Progressive disorder 
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 HP:0003774 End stage renal disease 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000125730 C3 / P01024 / complement C3  / complex / reaction
 ENSG00000134389 CFHR5 / Q9BXR6 / complement factor H related 5  / complex






 

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