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    cfi complement factor I [ Danio rerio (zebrafish) ]

    Gene ID: 557557, updated on 9-Dec-2024

    Summary

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    Official Symbol
    cfiprovided by ZNC
    Official Full Name
    complement factor Iprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-110922-7
    See related
    AllianceGenome:ZFIN:ZDB-GENE-110922-7
    Gene type
    protein coding
    RefSeq status
    MODEL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    gb:ai721528
    Summary
    Predicted to enable serine-type endopeptidase activity. Acts upstream of or within retinal blood vessel morphogenesis. Predicted to be located in extracellular region and membrane. Human ortholog(s) of this gene implicated in Kuhnt-Junius degeneration; age related macular degeneration 13; atypical hemolytic-uremic syndrome; complement factor I deficiency; and macular degeneration. Orthologous to human CFI (complement factor I). [provided by Alliance of Genome Resources, Dec 2024]
    Annotation information
    Annotation category: partial on reference assembly
    Orthologs
    human mouse all
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    Genomic context

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    See cfi in Genome Data Viewer
    Location:
    chromosome: 23
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 23 NC_007134.7 (45276998..45300481)
    105 previous assembly GRCz10 (GCF_000002035.5) Unplaced Scaffold NW_003336537.1 (14444..42415)

    Chromosome 23 - NC_007134.7Genomic Context describing neighboring genes Neighboring gene PC4 and SFRS1 interacting protein 1b Neighboring gene tetratricopeptide repeat domain 39B Neighboring gene sphingomyelin synthase 2b Neighboring gene coiled-coil domain containing 171 Neighboring gene axoneme-associated protein mst101(2)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration. Tan PL, et al. Invest Ophthalmol Vis Sci, 2017 Mar 1. PMID 28282489, Free PMC Article
    2. A functional variant in the CFI gene confers a high risk of age-related macular degeneration. van de Ven JP, et al. Nat Genet, 2013 Jul. PMID 23685748
    3. Fish complement C8 evolution, functional network analyses, and the theoretical interaction between C8 alpha chain and CD59. Li L, et al. Mol Immunol, 2020 Dec. PMID 33160183
    4. Ypel5 regulates liver development and function in zebrafish. Deng Y, et al. J Mol Cell Biol, 2023 Aug 3. PMID 36948605, Free PMC Article
    5. Molecular conservation of estrogen-response associated with cell cycle regulation, hormonal carcinogenesis and cancer in zebrafish and human cancer cell lines. Lam SH, et al. BMC Med Genomics, 2011 May 16. PMID 21575170, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables serine-type peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within retinal blood vessel morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    complement factor I
    XP_017209949.2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007134.7 Reference GRCz11 Primary Assembly

      Range
      45276998..45300481
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017354460.3 → XP_017209949.2  complement factor I

      UniProtKB/TrEMBL
      A0A8M6YYY8
    Nucleotide Protein Strain
    Heading Accession and Version

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