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    CFHR1 complement factor H related 1 [ Homo sapiens (human) ]

    Gene ID: 3078, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CFHR1provided by HGNC
    Official Full Name
    complement factor H related 1provided by HGNC
    Primary source
    HGNC:HGNC:4888
    See related
    Ensembl:ENSG00000244414 MIM:134371; AllianceGenome:HGNC:4888
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    H36; CFHL; FHR1; HFL1; HFL2; CFHL1; FHL-1; FHR-1; H36-1; H36-2; CFHL1P; CFHR1P
    Summary
    This gene encodes a secreted protein belonging to the complement factor H protein family. It binds to Pseudomonas aeruginosa elongation factor Tuf together with plasminogen, which is proteolytically activated. It is proposed that Tuf acts as a virulence factor by acquiring host proteins to the pathogen surface, controlling complement, and facilitating tissue invasion. Mutations in this gene are associated with an increased risk of atypical hemolytic-uremic syndrome. [provided by RefSeq, Oct 2009]
    Expression
    Biased expression in liver (RPKM 605.6) and gall bladder (RPKM 13.9) See more
    Orthologs
    all
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    Genomic context

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    See CFHR1 in Genome Data Viewer
    Location:
    1q31.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (196819731..196832189)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (196788861..196801319)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak637 silencer Neighboring gene complement factor H Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2274 Neighboring gene MPRA-validated peak638 silencer Neighboring gene complement factor H related 3 Neighboring gene complement factor H-related protein 3-like Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:196827453-196828652 Neighboring gene Sharpr-MPRA regulatory region 8052 Neighboring gene uncharacterized LOC105371675 Neighboring gene complement factor H related 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Factor H-related protein 1 (FHR-1) is associated with atherosclerotic cardiovascular disease. Irmscher S, et al. Sci Rep, 2021 Nov 18. PMID 34795372, Free PMC Article
    2. Cutting Edge: FHR-1 Binding Impairs Factor H-Mediated Complement Evasion by the Malaria Parasite Plasmodium falciparum. Reiss T, et al. J Immunol, 2018 Dec 15. PMID 30455399
    3. Relevance of complement factor H-related 1 (CFHR1) genotypes in age-related macular degeneration. Martínez-Barricarte R, et al. Invest Ophthalmol Vis Sci, 2012 Mar 1. PMID 22247456
    4. CFHR1 involvement in bile duct carcinoma: Insights from a data mining study. Liu Y, et al. Anal Biochem, 2024 May. PMID 38286352
    5. CFHR1 is a potentially downregulated gene in lung adenocarcinoma. Wu G, et al. Mol Med Rep, 2019 Oct. PMID 31485643, Free PMC Article

    See all (106) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CFHR1 involvement in bile duct carcinoma: Insights from a data mining study.
      Title: CFHR1 involvement in bile duct carcinoma: Insights from a data mining study.
    2. The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases.
      Title: The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases.
    3. CFH-CFHR1 hybrid genes in two cases of atypical hemolytic uremic syndrome.
      Title: CFH-CFHR1 hybrid genes in two cases of atypical hemolytic uremic syndrome.
    4. CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome.
      Title: CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome.
    5. Anti-factor H antibody and its role in atypical hemolytic uremic syndrome.
      Title: Anti-factor H antibody and its role in atypical hemolytic uremic syndrome.
    6. Factor H-Related Protein 1 Drives Disease Susceptibility and Prognosis in C3 Glomerulopathy.
      Title: Factor H-Related Protein 1 Drives Disease Susceptibility and Prognosis in C3 Glomerulopathy.
    7. Complement Factor H-Related Proteins FHR1 and FHR5 Interact With Extracellular Matrix Ligands, Reduce Factor H Regulatory Activity and Enhance Complement Activation.
      Title: Complement Factor H-Related Proteins FHR1 and FHR5 Interact With Extracellular Matrix Ligands, Reduce Factor H Regulatory Activity and Enhance Complement Activation.
    8. High prevalence of CFHR deletions in Indian women with pregnancy-associated hemolytic uremic syndrome.
      Title: High prevalence of CFHR deletions in Indian women with pregnancy-associated hemolytic uremic syndrome.
    9. A synthetic protein as efficient multitarget regulator against complement over-activation.
      Title: A synthetic protein as efficient multitarget regulator against complement over-activation.
    10. Factor H-related protein 1 (FHR-1) is associated with atherosclerotic cardiovascular disease.
      Title: Factor H-related protein 1 (FHR-1) is associated with atherosclerotic cardiovascular disease.
    Submit: New GeneRIF Correction See all GeneRIFs (79)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.
    EBI GWAS Catalog
    Genome-wide association study identifies susceptibility loci for IgA nephropathy.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC104329

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables complement component C3b binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in complement activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cytolysis by host of symbiont cells IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of protein binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in blood microparticle HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    complement factor H-related protein 1
    Names
    H factor (complement)-like 1
    H factor (complement)-like 2
    H-factor-like 1
    complement factor H-related 1 pseudogene
    h factor-like protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013060.1 RefSeqGene

      Range
      5001..17459
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_149

    mRNA and Protein(s)

    1. NM_001379306.1 → NP_001366235.1  complement factor H-related protein 1 isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AL049741
      UniProtKB/TrEMBL
      B1AKG0
      Conserved Domains (1) summary
      PHA02927
      Location:90 → 312
      PHA02927; secreted complement-binding protein; Provisional

    2. NM_001379307.1 → NP_001366236.1  complement factor H-related protein 1 isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AL049741
      Consensus CDS
      CCDS91131.1
      UniProtKB/TrEMBL
      A0A8V8TNS5
      Related
      ENSP00000514391.1, ENST00000699454.1

    3. NM_001379308.1 → NP_001366237.1  complement factor H-related protein 1 isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AL049741
      Conserved Domains (1) summary
      PHA02927
      Location:52 → 274
      PHA02927; secreted complement-binding protein; Provisional

    4. NM_001379309.1 → NP_001366238.1  complement factor H-related protein 1 isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AL049741
      Conserved Domains (1) summary
      PHA02927
      Location:51 → 273
      PHA02927; secreted complement-binding protein; Provisional

    5. NM_001379310.1 → NP_001366239.1  complement factor H-related protein 1 isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AL049741
      Conserved Domains (1) summary
      PHA02927
      Location:42 → 264
      PHA02927; secreted complement-binding protein; Provisional

    6. NM_001379311.1 → NP_001366240.1  complement factor H-related protein 1 isoform 7 precursor

      Status: REVIEWED

      Source sequence(s)
      AL049741
      Conserved Domains (1) summary
      PHA02927
      Location:72 → 261
      PHA02927; secreted complement-binding protein; Provisional

    7. NM_001379312.1 → NP_001366241.1  complement factor H-related protein 1 isoform 8 precursor

      Status: REVIEWED

      Source sequence(s)
      AL049741
      Consensus CDS
      CCDS91132.1
      UniProtKB/TrEMBL
      A0A8V8TQ26
      Related
      ENSP00000514392.1, ENST00000699455.1
      Conserved Domains (1) summary
      PHA02927
      Location:26 → 248
      PHA02927; secreted complement-binding protein; Provisional

    8. NM_002113.3 → NP_002104.2  complement factor H-related protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_002104.2

      Status: REVIEWED

      Source sequence(s)
      AL049741
      Consensus CDS
      CCDS1386.1
      UniProtKB/Swiss-Prot
      A8K465, Q03591, Q3B774, Q9UJ17
      UniProtKB/TrEMBL
      B1AKG0
      Related
      ENSP00000314299.5, ENST00000320493.10
      Conserved Domains (1) summary
      cd00033
      Location:208 → 262
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      196819731..196832189
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q03591.2 GenPept UniProtKB/Swiss-Prot:Q03591

    Gene LinkOut

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