Details for: CFHR1

Gene ID: 3078

Symbol: CFHR1

Ensembl ID: ENSG00000244414

Description: complement factor H related 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.51
    Marker Score: 2529
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 2.21
    Marker Score: 1521
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.38
    Marker Score: 877
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7691
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.11
    Marker Score: 3633
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.07
    Marker Score: 2727
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251821
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71838
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48063
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30409
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5353
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.9
    Marker Score: 691
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5295
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1268
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 712
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 401
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 180
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.66
    Marker Score: 434
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.62
    Marker Score: 492
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.57
    Marker Score: 150
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.55
    Marker Score: 2047
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 0.5
    Marker Score: 1405
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.5
    Marker Score: 480
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.48
    Marker Score: 264
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 281
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.41
    Marker Score: 229
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 376
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.36
    Marker Score: 208
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.36
    Marker Score: 149
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.31
    Marker Score: 215
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.3
    Marker Score: 159.5
  • Cell Name: reticular cell (CL0000432)
    Fold Change: 0.21
    Marker Score: 75
  • Cell Name: theca cell (CL0000503)
    Fold Change: 0.21
    Marker Score: 147
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.2
    Marker Score: 189
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.19
    Marker Score: 104
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.16
    Marker Score: 63
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.15
    Marker Score: 976
  • Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
    Fold Change: 0.15
    Marker Score: 236
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.14
    Marker Score: 155
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.14
    Marker Score: 30
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.13
    Marker Score: 61
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.13
    Marker Score: 73
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.13
    Marker Score: 136
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.12
    Marker Score: 66
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.12
    Marker Score: 254
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.11
    Marker Score: 71
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.11
    Marker Score: 119
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.1
    Marker Score: 433
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.1
    Marker Score: 171
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.1
    Marker Score: 188
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.1
    Marker Score: 30
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.09
    Marker Score: 22
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.08
    Marker Score: 55
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.08
    Marker Score: 164
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.08
    Marker Score: 101.5
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.08
    Marker Score: 36
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.08
    Marker Score: 52
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.08
    Marker Score: 447
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.07
    Marker Score: 41
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.07
    Marker Score: 111
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.07
    Marker Score: 47
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.07
    Marker Score: 41
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.07
    Marker Score: 34
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.06
    Marker Score: 23
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.06
    Marker Score: 447
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.06
    Marker Score: 104
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.06
    Marker Score: 35
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.05
    Marker Score: 64
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.05
    Marker Score: 31
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.05
    Marker Score: 24
  • Cell Name: alpha-beta T cell (CL0000789)
    Fold Change: 0.05
    Marker Score: 39
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 0.05
    Marker Score: 259
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.05
    Marker Score: 740
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    Fold Change: 0.05
    Marker Score: 29
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 0.05
    Marker Score: 13
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.05
    Marker Score: 21
  • Cell Name: chondrocyte (CL0000138)
    Fold Change: 0.04
    Marker Score: 20
  • Cell Name: pre-conventional dendritic cell (CL0002010)
    Fold Change: 0.04
    Marker Score: 13
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.04
    Marker Score: 50
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.04
    Marker Score: 11
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.04
    Marker Score: 30
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.04
    Marker Score: 42
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.04
    Marker Score: 55.5
  • Cell Name: gamma-delta T cell (CL0000798)
    Fold Change: 0.04
    Marker Score: 27
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.04
    Marker Score: 21
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.04
    Marker Score: 44
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.04
    Marker Score: 10
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.04
    Marker Score: 11
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.04
    Marker Score: 13
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 0.04
    Marker Score: 11
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.04
    Marker Score: 24
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.04
    Marker Score: 219
  • Cell Name: mucosal invariant T cell (CL0000940)
    Fold Change: 0.04
    Marker Score: 32
  • Cell Name: lung neuroendocrine cell (CL1000223)
    Fold Change: 0.04
    Marker Score: 10
  • Cell Name: inflammatory cell (CL0009002)
    Fold Change: 0.03
    Marker Score: 15
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.03
    Marker Score: 11
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.03
    Marker Score: 21
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.03
    Marker Score: 35
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.03
    Marker Score: 40

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Other Information

**Key characteristics:** * It is a transmembrane protein with a molecular weight of approximately 140 kDa. * It is a member of the Complement factor H family of proteins. * It is expressed in high levels in the blood of individuals with hemolytic diseases. **Pathways and functions:** * CFHR1 is a regulator of the classical and alternative complement pathways. * It binds to complement component c3b, which is a key activator of the complement cascade. * By binding to c3b, CFHR1 prevents the formation of the C3 convertase complex, which is responsible for the initiation of the complement cascade. * This prevents the activation of downstream complement components and the subsequent formation of C5, C6, and C7, which are the proteins that are responsible for the lysis of red blood cells. **Clinical significance:** * Mutations in CFHR1 have been linked to the development of hemolytic diseases. * In hemolytic diseases, the complement cascade is overactive, leading to the destruction of red blood cells. * CFHR1 is a potential target for the treatment of hemolytic diseases. **Additional information:** * CFHR1 is a highly conserved protein, with a similar protein found in other mammals. * It is expressed in low levels in healthy individuals. * It is induced in the blood in response to injury or infection.

Genular Protein ID: 4019353817

Symbol: FHR1_HUMAN

Name: Complement factor H-related protein 1

UniProtKB Accession Codes:

Q03591 A8K465 Q3B774 Q9UJ17

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 9 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 PANTHER 2 PDB 4 PDBsum 2 PIR 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1826708

Title: 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

PubMed ID: 10781834

Title: 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

DOI: 10.1016/s0161-5890(00)00024-9

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1711047

Title: Molecular cloning of a human serum protein structurally related to complement factor H.

PubMed ID: 1711047

DOI: 10.1016/s0021-9258(18)99058-7

PubMed ID: 1825108

Title: 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

PubMed ID: 8172644

Title: Complement factor H and related proteins: an expanding family of complement-regulatory proteins?

PubMed ID: 8172644

DOI: 10.1016/0167-5699(94)90155-4

PubMed ID: 16335952

Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.

PubMed ID: 16335952

DOI: 10.1021/pr0502065

PubMed ID: 17367211

Title: Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome.

PubMed ID: 17367211

DOI: 10.1371/journal.pgen.0030041

PubMed ID: 18006700

Title: Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency.

PubMed ID: 18006700

DOI: 10.1182/blood-2007-09-109876

PubMed ID: 23204165

Title: Glycerol-3-phosphate dehydrogenase 2 is a novel factor H-, factor H-like protein 1-, and plasminogen-binding surface protein of Candida albicans.

PubMed ID: 23204165

DOI: 10.1093/infdis/jis718

PubMed ID: 23487775

Title: Dimerization of complement factor H-related proteins modulates complement activation in vivo.

PubMed ID: 23487775

DOI: 10.1073/pnas.1219260110

Sequence Information:

  • Length: 330
  • Mass: 37651
  • Checksum: C0A1B38B8B34B6EF
  • Sequence:
    • MWLLVSVILI SRISSVGGEA TFCDFPKINH GILYDEEKYK PFSQVPTGEV FYYSCEYNFV 
SPSKSFWTRI TCTEEGWSPT PKCLRLCFFP FVENGHSESS GQTHLEGDTV QIICNTGYRL 
QNNENNISCV ERGWSTPPKC RSTDTSCVNP PTVQNAHILS RQMSKYPSGE RVRYECRSPY 
EMFGDEEVMC LNGNWTEPPQ CKDSTGKCGP PPPIDNGDIT SFPLSVYAPA SSVEYQCQNL 
YQLEGNKRIT CRNGQWSEPP KCLHPCVISR EIMENYNIAL RWTAKQKLYL RTGESAEFVC 
KRGYRLSSRS HTLRTTCWDG KLEYPTCAKR

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.