Details for: CFHR1

Gene ID: 3078

Symbol: CFHR1

Ensembl ID: ENSG00000244414

Description: complement factor H related 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 10.8069
    Cell Significance Index: 181.7700
  • Cell Name: liver dendritic cell (CL2000055)
    Fold Change: 8.1692
    Cell Significance Index: 21.5500
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 6.0209
    Cell Significance Index: 55.8800
  • Cell Name: theca cell (CL0000503)
    Fold Change: 1.1370
    Cell Significance Index: 6.6800
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.0176
    Cell Significance Index: 15.0200
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.9448
    Cell Significance Index: 14.3500
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.6287
    Cell Significance Index: 5.2000
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.6020
    Cell Significance Index: 1.3900
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.5240
    Cell Significance Index: 3.1400
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.5100
    Cell Significance Index: 7.8900
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.4036
    Cell Significance Index: 3.3900
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.3461
    Cell Significance Index: 3.2900
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.3451
    Cell Significance Index: 1.9900
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.2798
    Cell Significance Index: 2.1500
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.1788
    Cell Significance Index: 2.2900
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.1370
    Cell Significance Index: 1.4300
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.0689
    Cell Significance Index: 1.1600
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.0385
    Cell Significance Index: 0.3800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0275
    Cell Significance Index: 0.5800
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.0051
    Cell Significance Index: 0.1000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0008
    Cell Significance Index: -0.0400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0013
    Cell Significance Index: -2.4500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0017
    Cell Significance Index: -3.1600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0021
    Cell Significance Index: -3.2300
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0021
    Cell Significance Index: -0.0800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0024
    Cell Significance Index: -3.3100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0030
    Cell Significance Index: -1.6400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0031
    Cell Significance Index: -2.3000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0033
    Cell Significance Index: -2.4900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0041
    Cell Significance Index: -2.3200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0042
    Cell Significance Index: -1.2100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0053
    Cell Significance Index: -1.9000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0072
    Cell Significance Index: -3.2900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0078
    Cell Significance Index: -1.0700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0089
    Cell Significance Index: -0.9100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0099
    Cell Significance Index: -1.9900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0106
    Cell Significance Index: -0.2900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0137
    Cell Significance Index: -0.3600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0142
    Cell Significance Index: -2.5600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0153
    Cell Significance Index: -2.6200
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: -0.0168
    Cell Significance Index: -0.1900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0176
    Cell Significance Index: -1.1100
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0177
    Cell Significance Index: -0.7700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0178
    Cell Significance Index: -0.8300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0183
    Cell Significance Index: -2.1000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0186
    Cell Significance Index: -2.7100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0233
    Cell Significance Index: -2.7200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0257
    Cell Significance Index: -3.3200
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: -0.0328
    Cell Significance Index: -0.3900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0358
    Cell Significance Index: -2.4100
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: -0.0401
    Cell Significance Index: -0.4400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0402
    Cell Significance Index: -2.4700
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.0403
    Cell Significance Index: -0.6400
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: -0.0406
    Cell Significance Index: -0.4700
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.0443
    Cell Significance Index: -0.5900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0449
    Cell Significance Index: -3.3500
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.0454
    Cell Significance Index: -0.6300
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.0454
    Cell Significance Index: -0.4400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0479
    Cell Significance Index: -2.6900
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: -0.0481
    Cell Significance Index: -0.4700
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0497
    Cell Significance Index: -0.5400
  • Cell Name: myelocyte (CL0002193)
    Fold Change: -0.0580
    Cell Significance Index: -0.6200
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: -0.0581
    Cell Significance Index: -0.5600
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: -0.0611
    Cell Significance Index: -0.2300
  • Cell Name: myoblast (CL0000056)
    Fold Change: -0.0611
    Cell Significance Index: -0.6000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0628
    Cell Significance Index: -2.7800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0635
    Cell Significance Index: -2.2300
  • Cell Name: erythroblast (CL0000765)
    Fold Change: -0.0704
    Cell Significance Index: -0.8400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0709
    Cell Significance Index: -3.3300
  • Cell Name: mature T cell (CL0002419)
    Fold Change: -0.0709
    Cell Significance Index: -0.5100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0729
    Cell Significance Index: -2.7600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0736
    Cell Significance Index: -2.4100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0738
    Cell Significance Index: -2.3500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0748
    Cell Significance Index: -2.0400
  • Cell Name: chondroblast (CL0000058)
    Fold Change: -0.0750
    Cell Significance Index: -0.4400
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: -0.0756
    Cell Significance Index: -0.5400
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: -0.0765
    Cell Significance Index: -0.4700
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0786
    Cell Significance Index: -2.3200
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.0789
    Cell Significance Index: -1.1300
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0804
    Cell Significance Index: -0.9100
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.0831
    Cell Significance Index: -1.6900
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: -0.0833
    Cell Significance Index: -0.5100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0849
    Cell Significance Index: -2.2700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0866
    Cell Significance Index: -2.4700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0872
    Cell Significance Index: -1.8500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0890
    Cell Significance Index: -1.4900
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0891
    Cell Significance Index: -2.2700
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: -0.0911
    Cell Significance Index: -1.2400
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: -0.0934
    Cell Significance Index: -1.0300
  • Cell Name: monocyte (CL0000576)
    Fold Change: -0.0939
    Cell Significance Index: -1.0800
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0945
    Cell Significance Index: -3.4700
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0950
    Cell Significance Index: -2.3700
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: -0.0975
    Cell Significance Index: -0.7700
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0989
    Cell Significance Index: -1.4600
  • Cell Name: peridermal cell (CL0000078)
    Fold Change: -0.0994
    Cell Significance Index: -0.6200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1022
    Cell Significance Index: -2.7300
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.1027
    Cell Significance Index: -2.5600
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.1027
    Cell Significance Index: -1.4400
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.1040
    Cell Significance Index: -1.3600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1047
    Cell Significance Index: -1.5000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** CFHR1 is a member of the complement factor H (CFH) family, which is known for its ability to regulate the complement system. CFHR1 is primarily expressed in various cell types, including endothelial cells, dendritic cells, and epithelial cells. Its expression is also observed in specific tissues, such as the brain, where it is expressed in GABAergic interneurons. Notably, CFHR1 is structurally similar to CFH, but its specific function is distinct. **Pathways and Functions:** CFHR1 is involved in several key pathways, including: 1. **Complement activation regulation**: CFHR1 acts as a negative regulator of the complement cascade, preventing excessive activation and subsequent inflammation. 2. **Blood microparticle formation**: CFHR1 is involved in the formation and stabilization of blood microparticles, which are small vesicles released from cells during activation. 3. **Immune system modulation**: CFHR1 influences immune responses by modulating the activity of various immune cells, including dendritic cells and granulocytes. 4. **Cytolysis by host of symbiont cells**: CFHR1 may play a role in regulating the cytolytic activity of host cells against symbiotic microorganisms. **Functions:** CFHR1's primary function is to regulate the complement system by binding to complement component C3b, thereby preventing its deposition on host cells and subsequent activation of the complement cascade. Additionally, CFHR1 is involved in the regulation of protein binding, influencing the interactions between proteins and cells. **Clinical Significance:** Dysregulation of the complement system has been implicated in various diseases, including: 1. **Complement-mediated thrombotic microangiopathies**: CFHR1 variants have been associated with an increased risk of developing thrombotic microangiopathies, such as atypical hemolytic uremic syndrome (aHUS). 2. **Autoimmune disorders**: CFHR1's role in regulating the immune system makes it a potential target for the development of therapeutic strategies for autoimmune diseases, such as lupus and rheumatoid arthritis. 3. **Neurological disorders**: CFHR1's expression in the brain suggests its potential involvement in neurological disorders, such as Alzheimer's disease and Parkinson's disease. In conclusion, CFHR1 is a vital component of the immune system, playing a crucial role in regulating the complement cascade and preventing excessive inflammation. Further research into CFHR1's functions and clinical significance is necessary to fully appreciate its importance in human health and disease.

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 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 9 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 PANTHER 2 PDB 2 PDBsum 2 PIR 1 PRO 1 PROSITE 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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.