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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CFHR1 Gene

protein-coding   GIFtS: 51
GCID: GC01P196788

complement factor H-related 1

(Previous names: H factor (complement)-like 1, complement factor H-related...)
(Previous symbols: HFL1, CFHL1, CFHR1P, HFL2, CFHL1P)
 Explore 29 diseases affiliated with
CFHR1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CFHR1    

Aliases
for CFHR1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Complement Factor H-Related 11 2     H36-21 2
CFHL11 2 3 5     Complement Factor H-Related 1 Pseudogene1 2
FHR11 2 3 5     H Factor (Complement)-Like 11 2
HFL11 2 3 5     H Factor (Complement)-Like 21 2
CFHL1 2 3     H Factor-Like Protein 12 3
CFHL1P1 2 3     FHR-12 3
CFHR1P1 2 3     H362 3
HFL21 2 3     H-Factor-Like 12 3
H36-11 2     Complement Factor H-Related Protein 12

External Ids:    HGNC: 48881   Entrez Gene: 30782   Ensembl: ENSG000002444147   OMIM: 1343715   UniProtKB: Q035913   

Export aliases for CFHR1 gene to outside databases

Previous GC identifer: GC01P195056


Summaries
for CFHR1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for CFHR1:
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)

UniProtKB/Swiss-Prot: FHR1_HUMAN, Q03591
Function: Might be involved in complement regulation. Can associate with lipoproteins and may play a role in lipid
metabolism

Gene Wiki entry for CFHR1


Genomic Views
for CFHR1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CFHR1 gene promoter:
         MEF-2A   Pax-6   Zic1   aMEF-2   NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CFHR1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CFHR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CFHR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q32   Ensembl cytogenetic band:  1q31.3   HGNC cytogenetic band: 1q32

CFHR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CFHR1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P196788:  view genomic region     (about GC identifiers)

Start:
 196,788,861 bp from pter      End:
 196,801,319 bp from pter
Size:
 12,459 bases      Orientation:
 plus strand

Proteins
for CFHR1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: FHR1_HUMAN, Q03591 (See protein sequence)
Recommended Name: Complement factor H-related protein 1 precursor  
Size: 330 amino acids; 37651 Da
Subcellular location: Secreted
Secondary accessions: A8K465 Q3B774 Q9UJ17

Explore the universe of human proteins at neXtProt for CFHR1: NX_Q03591

Post-translational modifications:

  • N-glycosylated. Two forms are observed; one with a single side chain and the other with two1
  • View neXtProt modification sites for NX_Q03591

    • CFHR1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002104.2  
    ENSEMBL proteins: 
     ENSP00000356394   ENSP00000314299  

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    Uscn Proteins for CFHR1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space TAS1711047


    CFHR1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for CFHR1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CFHR1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR000436 Sushi_SCR_CCP

    Graphical View of Domain Structure for InterPro Entry Q03591

    ProtoNet protein and cluster: Q03591

    1 Blocks protein family: IPB000436 Sushi domain/SCR domain/CCP module

    UniProtKB/Swiss-Prot: FHR1_HUMAN, Q03591
    Similarity: Contains 5 Sushi (CCP/SCR) domains


    Function
    for CFHR1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: FHR1_HUMAN, Q03591
    Function: Might be involved in complement regulation. Can associate with lipoproteins and may play a role in lipid
    metabolism

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate CFHR1:
    hsa-miR-3658
    SwitchGear 3'UTR luciferase reporter plasmid: CFHR1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CFHR1

    1 GenomeRNAi human phenotype for CFHR1:
     Decreased viability with pacli 


    Pathways & Interactions
    for CFHR1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CFHR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5 Interacting proteins for CFHR1 (Q035913 ENSP000003142994) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LBPP184283, ENSP000002174074I2D: score=3 STRING: ENSP00000217407
    APOA1P026473, ENSP000002368504I2D: score=1 STRING: ENSP00000236850
    CFHP086033, ENSP000003563994I2D: score=1 STRING: ENSP00000356399
    C3ENSP000002459074STRING: ENSP00000245907
    PRDX4ENSP000003686464STRING: ENSP00000368646
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006956complement activation TAS1711047


    CFHR1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for CFHR1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CFHR1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CFHR1
    1 Novoseek chemical compound relationship for CFHR1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    heparin 35.6 2 10408366 (2)

    Search CenterWatch for drugs/clinical trials and news about CFHR1 / FHR1 

    Transcripts
    for CFHR1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for CFHR1 gene: 
    NM_002113.2  

    Unigene Cluster for CFHR1:

    Complement factor H-related 1
    Hs.575869  [show with all ESTs]
    Unigene Representative Sequence: BC107771
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367424 ENST00000320493(uc001gtm.3 uc001gtn.3) ENST00000498248
    ENST00000472961 ENST00000468079 ENST00000480960

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate CFHR1:
    hsa-miR-3658
    SwitchGear 3'UTR luciferase reporter plasmid: CFHR1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CFHR1
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    Additional cDNA sequence: 

    AK290830.1 AK311681.1 BC016755.1 BC107771.1 M65292.1 M65293.1 X56209.1 

    14 DOTS entries:

    DT.92463758  DT.95211965  DT.100828430  DT.92463766  DT.100828418  DT.100828424  DT.100828432  DT.95211960 
    DT.452545  DT.95211955  DT.95211982  DT.100828419  DT.121361166  DT.95212008 

    24/361 AceView cDNA sequences (see all 361):

    F01572 BF063270 CA391822 NM_000186 AV681856 Y00716 F05314 AA705945 
    AV700023 BC016755 CR616715 BX955865 CR598844 BX475912 BQ183146 BM982662 
    AL540473 AA384423 AI683097 D58028 CD722316 BF868682 R29055 BG617334 

    GeneLoc Exon Structure


    Expression
    for CFHR1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CFHR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CFHR1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneMaxillary ProcessBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CFHR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CFHR1

    SOURCE GeneReport for Unigene cluster: Hs.575869

    UniProtKB/Swiss-Prot: FHR1_HUMAN, Q03591
    Tissue specificity: Expressed by the liver and secreted in plasma

        SABiosciences Custom PCR Arrays for CFHR1
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CFHR1

    Orthologs
    for CFHR1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for CFHR1 gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves --
    		 Uncharacterized protein
    		 10(a)
    		 1 → many
    		 8(2667080-2699650)
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    (see all 3)    		 --
    		 6(a)
    16(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 GL343440.1(798097-825141)
    GL343432.1(118490-172091)
    zebrafish
    (Danio rerio)    		 Actinopterygii CR352286.16
    CR759867.16
    (see all 12)    		 --

    (see all 12)    		 possible ortholog
    possible ortholog
    (see all 12)    		 19(45874989-46606132)
    19(45630467-45650934)
    worm
    (Caenorhabditis elegans)    		 Secernentea T07H6.46
    		 Protein T07H6.4
    		 4(a)
    		 possible ortholog
    		 X(6281881-6286136)


    ENSEMBL Gene Tree for CFHR1 (if available)
    TreeFam Gene Tree for CFHR1 (if available) 

    Paralogs
    for CFHR1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CFHR1 gene
    F13B2  CFHR42  APOH2  CFHR22  CFHR52  CFH2  CFHR32  
    8 SIMAP similar genes for CFHR1 using alignment to 2 protein entries:     FHR1_HUMAN (see all proteins):
    CFHL1P    CFHR2    HF    CFH    CFHR5    CFHR3
    CFHR4    FHR4

    CFHR1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CFHR1
    PGOHUM00000245143


    Genomic Variants
    for CFHR1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/397 NCBI SNPs in CFHR1 are shown (see all 397)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs4416141,2
    		F,A,--196786861(-) TTCGGT/CGGGTC 1 -- us2k11Minor allele frequency- C:0.13NA 120
    rs4416071,2
    		C,--196786875(-) TCTCCT/CGCTCC 1 -- us2k13Minor allele frequency- C:0.40NA EA 242
    rs1428830191,2
    		--196786898(+) CTGCCA/GTTTAC 1 -- us2k10--------
    rs1502362741,2
    		--196786913(+) ACCCTC/TGGAAA 1 -- us2k10--------
    rs2017328141,2
    		--196786941(+) GGAAT-/GTCCCA 1 -- us2k10--------
    rs4241501,2
    		--196786957(-) CTGCAA/C/GCTGGG 1 -- us2k11NA 2
    rs1824263571,2
    		--196787020(+) TTCCAG/TGGTGA 1 -- us2k10--------
    rs1494179311,2
    		--196787029(+) GAGGCA/GATGCC 1 -- us2k10--------
    rs1850843991,2
    		--196787032(+) GCAATG/TCCCCG 1 -- us2k10--------
    rs1178890681,2
    		F,--196787036(+) TGCCCC/TGCCCA 1 -- us2k11Minor allele frequency- T:0.03EA 120

    HapMap Linkage Disequilibrium report for CFHR1 (196788861 - 196801319 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 38 variations for CFHR1
         15/37 CNVs (see all 37): 34655 2054 84768 43700 34747 30448 74845 22933 1345 34583 70900 74846 2343 8932 84770
         1 Indel: 10822
    Human Gene Mutation Database (HGMD): CFHR1

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    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CFHR1
    DNA2.0 Custom Variant and Variant Library Synthesis for CFHR1

    Disorders / Diseases
    for CFHR1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    CFHR1 for disorders           About GeneDecksing

    OMIM gene information: 134371   
    OMIM disorders: 603075  235400  
    20/29 diseases for CFHR1 (see all 29):    About MalaCards
    hemolytic-uremic syndrome    atypical hemolytic-uremic syndrome    macular degeneration, age-related, reduced risk of    factor h and factor h-like
    age related macular degeneration    macular degeneration    systemic lupus erythematosus    non-hodgkin lymphoma
    membranoproliferative glomerulonephritis    lupus erythematosus    lyme disease    relapsing fever
    haemophilus influenzae    hodgkin's lymphoma    glomerulonephritis    periodontitis
    hepatitis c    periodontal disease    influenza    hepatitis b

    2 diseases from the University of Copenhagen DISEASES database for CFHR1:
    hemolytic-uremic syndrome     Age related macular degeneration

    2 Novoseek disease relationships for CFHR1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    uremic syndrome 72.5 4 19861685 (2), 18449173 (1), 19528535 (1)
    lyme disease 66.7 3 19858303 (1)

    Human Genome Epidemiology (HuGE) Navigator: CFHR1 (14 documents)

    Export disorders for CFHR1 gene to outside databases

    Publications
    for CFHR1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CFHR1 gene, integrated from 9 sources (see all 100):
    (articles sorted by number of sources associating them with CFHR1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of a human serum protein structurally related to complement factor H. (PubMed id 1711047)1, 2, 3 Skerka C.... Zipfel P.F. (1991)
    2. Cloning of the 1.4-kb mRNA species of human complement factor H reveals a novel member of the short consensus repeat family related to the carboxy terminal of the classical 150-kDa molecule. (PubMed id 1826708)1, 2, 3 Estaller C.... Weiss E.H. (1991)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    4. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Complement factor H: sequence analysis of 221 kb of human genomic DNA containing the entire fH, fHR-1 and fHR-3 genes. (PubMed id 10781834)1, 2 Male D.A.... Gordon D.L. (2000)
    7. Complement factor H and related proteins: an expanding family of complement-regulatory proteins? (PubMed id 8172644)1, 2 Zipfel P.F. and Skerka C. (1994)
    8. Two major serum components antigenically related to complement factor H are different glycosylation forms of a single protein with no factor H-like complement regulatory functions. (PubMed id 1825108)1, 2 Timmann C.... Horstmann R.D. (1991)
    9. Factor H and factor H-related protein 1 bind to human neutrophils via complement receptor 3, mediate attachment to Candida albicans, and enhance neutrophil antimicrobial activity. (PubMed id 20008295)1, 9 Losse J....JA^zsi M. (2010)
    10. Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patien ts with atypical hemolytic uremic syndrome. (PubMed id 19861685)1, 9 Moore I....Marchbank K.J. (2010)

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    Entrez Gene: 3078 HGNC: 4888 AceView: CFH Ensembl:ENSG00000244414 euGenes: HUgn3078
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