ENSG00000244414


Homo sapiens

Features
Gene ID: ENSG00000244414
  
Biological name :CFHR1
  
Synonyms : CFHR1 / complement factor H related 1 / Q03591
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q31.3
Gene start: 196819757
Gene end: 196832189
  
Corresponding Affymetrix probe sets: 215388_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000314299
Ensembl peptide - ENSP00000356394
NCBI entrez gene - 3078     See in Manteia.
OMIM - 134371
RefSeq - NM_002113
RefSeq - XM_011509457
RefSeq Peptide - NP_002104
swissprot - B1AKG0
swissprot - Q03591
Ensembl - ENSG00000244414
  
Related genetic diseases (OMIM): 235400 - {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400
  603075 - {Macular degeneration, age-related, reduced risk of}, 603075
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(%)
CFHR2 / P36980 / complement factor H related 2ENSG0000008091071
BX248415.1ENSG0000027691171
CFHR5 / Q9BXR6 / complement factor H related 5ENSG0000013438964
CFH / P08603 / complement factor HENSG0000000097157
F13B / P05160 / coagulation factor XIII B chainENSG0000014327832
CFHR4 / Q92496 / complement factor H related 4ENSG0000013436531
CFHR3 / Q02985 / complement factor H related 3ENSG0000011678527
C4BPA / P04003 / complement component 4 binding protein alphaENSG0000012383820
SELE / P16581 / selectin EENSG0000000790816
SELP / P16109 / selectin PENSG0000017417516
CD46 / P15529 / CD46 moleculeENSG0000011733514
CD55 / P08174 / CD55 molecule (Cromer blood group)ENSG0000019635214
APOH / P02749 / apolipoprotein HENSG0000009158313
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:0006956 complement activation TAS
 biological_processGO:0030449 regulation of complement activation TAS
 biological_processGO:0032091 negative regulation of protein binding IMP
 biological_processGO:0045919 positive regulation of cytolysis IMP
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space TAS
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0072562 blood microparticle HDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IDA
 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
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000125730 C3 / P01024 / complement C3  / complex / reaction
 ENSG00000244414 CFHR1 / Q03591 / complement factor H related 1  / complex






 

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