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This gene is a member of the receptors of complement activation (RCA) family and is located in the 'cluster RCA' region of chromosome 1. The genome is polymorphic at this locus with allele-specific splice variants encoding different isoforms, based on the presence/absence of long homologous repeats (LHRs). The gene encodes a monomeric single-pass type I membrane glycoprotein fo... See more...
Aliases for CR1 Gene
Aliases for CR1 Gene
External Ids for CR1 Gene
- HGNC: 2334
- NCBI Entrez Gene: 1378
- Ensembl: ENSG00000203710
- OMIM®: 120620
- UniProtKB/Swiss-Prot: P17927
Previous GeneCards Identifiers for CR1 Gene
- GC01P206329
- GC01P203379
- GC01P204312
- GC01P204753
- GC01P204057
- GC01P205736
- GC01P207669
- GC01P178362
Summaries for CR1 Gene
-
This gene is a member of the receptors of complement activation (RCA) family and is located in the 'cluster RCA' region of chromosome 1. The genome is polymorphic at this locus with allele-specific splice variants encoding different isoforms, based on the presence/absence of long homologous repeats (LHRs). The gene encodes a monomeric single-pass type I membrane glycoprotein found on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells. The Knops blood group system is a system of antigens located on this protein. The protein mediates cellular binding to particles and immune complexes that have activated complement. Decreases in expression of this protein and/or mutations in this gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus, sarcoidosis and Alzheimer's disease. Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria. [provided by RefSeq, May 2020]
GeneCards Summary for CR1 Gene
CR1 (Complement C3b/C4b Receptor 1 (Knops Blood Group)) is a Protein Coding gene. Diseases associated with CR1 include Malaria and Plasmodium Falciparum Malaria. Among its related pathways are Complement and coagulation cascades and Immune response Lectin induced complement pathway. Gene Ontology (GO) annotations related to this gene include complement component C3b binding and complement component C4b receptor activity. An important paralog of this gene is CR1L.
UniProtKB/Swiss-Prot Summary for CR1 Gene
-
Membrane immune adherence receptor that plays a critical role in the capture and clearance of complement-opsonized pathogens by erythrocytes and monocytes/macrophages (PubMed:2963069). Mediates the binding by these cells of particles and immune complexes that have activated complement to eliminate them from the circulation (PubMed:2963069). Acts also in the inhibition of spontaneous complement activation by impairing the formation and function of the alternative and classical pathway C3/C5 convertases, and by serving as a cofactor for the cleavage by factor I of C3b to iC3b, C3c and C3d,g, and of C4b to C4c and C4d (PubMed:2972794, PubMed:8175757). Plays also a role in immune regulation by contributing, upon ligand binding, to the generation of regulatory T cells from activated helper T cells (PubMed:25742728).
-
(Microbial infection) Acts as a receptor for Epstein-Barr virus.
Additional gene information for CR1 Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CR1 Gene
Genomics for CR1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CR1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CR1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CR1
- Top Transcription factor binding sites by QIAGEN in the CR1 gene promoter:
-
- c-Myb
- c-Rel
- GR
- GR-alpha
- GR-beta
Genomic Locations for CR1 Gene
Latest Assembly
- chr1:207,496,147-207,641,765
- (GRCh38/hg38)
- Size:
- 145,619 bases
- Orientation:
- Plus strand
Previous Assembly
- chr1:207,669,502-207,815,110
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 145,609 bases
- Orientation:
- Plus strand
Genomic View for CR1 Gene
Genes around CR1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q32.2 by HGNC
- 1q32.2 by Entrez Gene
- 1q32.2 by Ensembl
CR1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CR1 Gene
Proteins for CR1 Gene
-
Protein details for CR1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P17927-CR1_HUMAN
- Recommended name:
- Complement receptor type 1
- Protein Accession:
- P17927
- Q16744
- Q16745
- Q5SR43
- Q5SR45
- Q9UQV2
Protein attributes for CR1 Gene
- Size:
- 2039 amino acids
- Molecular mass:
- 223663 Da
- Quaternary structure:
-
- Interacts (via Sushi 1 and Sushi 2 domains) with complement factor C4b (PubMed:2972794, PubMed:8175757). Interacts (via Sushi 8 and Sushi 9 domains) with complement factor C3b (PubMed:2972794, PubMed:8175757). Interacts (via Sushi 24 and Sushi 25 domains) with MBL2 (PubMed:23460739, PubMed:29563915). Interacts with FCN2 (PubMed:2972794). Interacts (via Sushi 24 and Sushi 25 domains) with C1QA (PubMed:9324355, PubMed:29563915).
- (Microbial infection) Interacts with Epstein-Barr virus gp350.
Protein Expression for CR1 Gene
Post-translational modifications for CR1 Gene
-
Glycosylation at Asn56, Asn156, Asn252, Asn315, Asn410, Asn447, Asn509, Asn578, Asn702, Asn860, Asn897, Asn959, Asn1028, Asn1152, Asn1310, Asn1481, Asn1504, Asn1534, Asn1540, Asn1605, Asn1763, and Asn1908
- NX_P17927 (NX_P17927-1)
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- CR1_HUMAN (1929)
Other Protein References for CR1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences CR1 / CD35 Monoclonal Antibody
- G Biosciences Immunotag™ CR1 Polyclonal Antibody and Immunotag™ CR1 Antibody
- SouthernBiotech Mouse Anti-Human CD35-PE, Mouse Anti-Human CD35-FITC, and Mouse Anti-Human CD35-UNLB
- NSJ Bioreagents CD35 Antibody (Mouse Monoclonal)
- Novus Biologicals Antibodies for CR1
-
Abcam antibodies for CR1
- Invitrogen Antibodies for CR1 (AFLGC-CR1)
- antibodies-online: Show 290 available CR1 Antibodies ranked by validation data
- Compare Top CR1 Antibodies
-
Recommended
- 116 WB Antibodies (anti-human)
- 62 FACS Antibodies (anti-human)
- 52 IHC (p) Antibodies (anti-human)
- 42 IHC (f) Antibodies (anti-human)
- 24 IHC Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 5 IF Antibodies (anti-human)
- 3 IF/ICC Antibodies (anti-human)
- 2 IP Antibodies (anti-human)
- 1 ICFC Antibody (anti-human)
- 34 WB Antibodies (anti-mouse)
- 6 IHC (fro) Antibodies (anti-mouse)
- 5 FACS Antibodies (anti-mouse)
- 42 IHC (f) Antibodies (anti-baboon)
- 33 IHC (p) Antibodies (anti-baboon)
- 27 WB Antibodies (anti-baboon)
- 8 IHC Antibodies (anti-baboon)
- 6 FACS Antibodies (anti-baboon)
-
Custom Antibody ServicesProSci Antibodies for CR1
- complement component (3b/4b) receptor 1 (Knops blood group) [34-100]
- complement component (3b/4b) receptor 1 (Knops blood group) [33-339]
- complement component (3b/4b) receptor 1 (Knops blood group) [48-010]
- complement component (3b/4b) receptor 1 (Knops blood group) [99-511]
- complement component (3b/4b) receptor 1 (Knops blood group) [99-512]
- complement component (3b/4b) receptor 1 (Knops blood group) [99-513]
-
Santa Cruz Biotechnology (SCBT) Antibodies for CR1
- Sino Biological Antibodies for CR1
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CR1
- Origene Custom Protein Services for CR1
- Novus Biologicals proteins for CR1
- antibodies-online: Search results for available CR1 related products ranked by validation data
Assay products for research
- G Biosciences Immunotag™ Human CR1 (Complement Receptor type 1) ELISA
- RayBiotech Human CD35 ELISA
No data available for DME Specific Peptides for CR1 Gene
Domains & Families for CR1 Gene
Gene Families for CR1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Blood group antigen proteins
- CD markers
- Plasma proteins
- Predicted membrane proteins
Protein Domains for CR1 Gene
- InterPro:
- Blocks:
-
- Sushi domain/SCR domain/CCP module
Suggested Antigen Peptide Sequences for CR1 Gene
- GenScript: Design optimal peptide antigens:
-
- C3b/C4b receptor (CR1_HUMAN)
- CR1 protein domain SCR25 (Q5SBJ5_HUMAN)
- CR1 protein domain SCR25 (Q5SBJ6_HUMAN)
- CR1 protein domain SCR25 (Q5SBJ7_HUMAN)
- CR1 protein domain SCR25 (Q5SBJ8_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P17927- Family:
-
- Belongs to the receptors of complement activation (RCA) family.
Function for CR1 Gene
Molecular function for CR1 Gene
- UniProtKB/Swiss-Prot Function:
- Membrane immune adherence receptor that plays a critical role in the capture and clearance of complement-opsonized pathogens by erythrocytes and monocytes/macrophages (PubMed:2963069). Mediates the binding by these cells of particles and immune complexes that have activated complement to eliminate them from the circulation (PubMed:2963069). Acts also in the inhibition of spontaneous complement activation by impairing the formation and function of the alternative and classical pathway C3/C5 convertases, and by serving as a cofactor for the cleavage by factor I of C3b to iC3b, C3c and C3d,g, and of C4b to C4c and C4d (PubMed:2972794, PubMed:8175757). Plays also a role in immune regulation by contributing, upon ligand binding, to the generation of regulatory T cells from activated helper T cells (PubMed:25742728).
- UniProtKB/Swiss-Prot Function:
- (Microbial infection) Acts as a receptor for Epstein-Barr virus.
- GENATLAS Biochemistry:
- complement component (3b/4b) receptor 1 (see RCA@)
Phenotypes From GWAS Catalog for CR1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001618 | virus receptor activity | IEA | -- |
| GO:0001851 | complement component C3b binding | IDA | 2972794 |
| GO:0001855 | complement component C4b binding | IDA | 2972794 |
| GO:0001861 | complement component C4b receptor activity | IDA | 2972794 |
| GO:0004877 | complement component C3b receptor activity | IDA | 2972794 |
Phenotypes for CR1 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CR1 - Starting at $85 >
- * CR1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CR1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CR1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CR1
miRNA for CR1 Gene
- miRTarBase miRNAs that target CR1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CR1
- Browse OriGene Inhibitory RNA Products For CR1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CR1
Clone products for research
- Applied Biological Materials (abm): Clones for CR1 - Starting at $45 >
- * CR1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for CR1
- Addgene plasmids for CR1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CR1
Cell Lines for research
-
Horizon Cell Lines for CR1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CR1 Gene
Localization for CR1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CR1 Gene
- Membrane. Single-pass type I membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| cytoskeleton | 2 |
| nucleus | 2 |
| cytosol | 2 |
| lysosome | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005856 | cytoskeleton | IDA | 18684861 |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | IDA | 6910481 |
| GO:0009986 | cell surface | IDA | 2972794 |
| GO:0016020 | membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CR1 Gene
Pathways & Interactions for CR1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Immune response Lectin induced complement pathway |
Immune response Alternative complement pathway
.56
Immune response Lectin induced complement pathway
.56
Immune response Classical complement pathway
.55
|
|
| 2 | Innate Immune System |
.61
|
|
| 3 | Complement and coagulation cascades | ||
| 4 | Hematopoietic cell lineage | ||
| 5 | Legionellosis | ||
Pathways by source for CR1 Gene
1 Sino Biological pathway for CR1 Gene
2 BioSystems pathways for CR1 Gene
5 Reactome pathways for CR1 Gene
7 KEGG pathways for CR1 Gene
3 GeneGo (Thomson Reuters) pathways for CR1 Gene
- Immune response Alternative complement pathway
- Immune response Classical complement pathway
- Immune response Lectin induced complement pathway
1 R&D Systems pathway for CR1 Gene
1 Qiagen pathway for CR1 Gene
- Phagocytosis of Microbes
Interacting Proteins for CR1 Gene
GPS-Prot Interaction Network for CR1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001970 | positive regulation of activation of membrane attack complex | IMP | 11981823 |
| GO:0001971 | negative regulation of activation of membrane attack complex | IDA | 31862673 |
| GO:0002376 | immune system process | IEA | -- |
| GO:0002430 | complement receptor mediated signaling pathway | IDA | 16360013 |
| GO:0002435 | immune complex clearance by erythrocytes | IDA | 24022490 |
Drugs & Compounds for CR1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for CR1 Gene
mRNA/cDNA for CR1 Gene
- 3 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000367049 9937 nts (view in UCSC)
- ENST00000367050 2393 nts (view in UCSC)
- ENST00000367051 6948 nts (view in UCSC)
- ENST00000367052 6948 nts (view in UCSC)
- ENST00000367053 6948 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CR1 - Starting at $85 >
- * CR1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CR1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CR1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CR1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CR1
- Browse OriGene Inhibitory RNA Products For CR1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CR1
Clone products for research
- Applied Biological Materials (abm): Clones for CR1 - Starting at $45 >
- * CR1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for CR1
- Addgene plasmids for CR1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CR1
Relevant External Links for CR1 Gene
- GeneLoc Exon Structure for
- CR1
Expression for CR1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
- monocyte
- leukocytes
- monocyte-derived dendritic cells
- neutrophils
- Inner Cell Mass (Early Embryonic Tissues)
-
Spleen (Hematopoietic System)
mRNA differential expression in normal tissues according to GTEx for CR1 Gene
This gene is overexpressed in Whole Blood (x31.7) and Spleen (x7.4).
This gene is overexpressed in Urine (50.9) and Neutrophil (8.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CR1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CR1
SOURCE GeneReport for Unigene cluster for CR1 Gene:
Hs.334019mRNA Expression by UniProt/SwissProt for CR1 Gene:
P17927-CR1_HUMAN
Tissue specificity:
Present on erythrocytes, a subset of T cells, mature B cells, follicular dendritic cells, monocytes and granulocytes.
Evidence on tissue expression from TISSUES for CR1 Gene
- Spleen(3.3)
- Blood(3)
- Lymph node(2.9)
- Kidney(2.4)
- Bone marrow(2.4)
- Intestine(2.3)
- Heart(2.3)
Primer products for research
-
OriGene qPCR primer pairs for CR1
Gene Expression Assays for research
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CR1 Gene
Orthologs for CR1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CR1 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | LOC102157092 29 |
|
||
| -- 30 |
|
OneToMany | |||
| Mouse (Mus musculus) |
Mammalia | Cr1l 30 |
|
OneToMany | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 30 |
|
OneToMany | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 30 |
|
OneToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 30 |
|
OneToMany | |
| Zebrafish (Danio rerio) |
Actinopterygii | ntd5 30 |
|
OneToMany | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG10186 31 |
|
|
|
| fw 30 |
|
ManyToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | T07H6.5 31 |
|
|
|
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToMany |
- Species where no ortholog for CR1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- Cow (Bos Taurus)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rat (Rattus norvegicus)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
Evolution for CR1 Gene
- ENSEMBL:
- Gene Tree for CR1 (if available)
- TreeFam:
- Gene Tree for CR1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CR1: view image
- Alliance of Genome Resources:
- Additional Orthologs for CR1
Paralogs for CR1 Gene
Paralogs for CR1 Gene
(6) SIMAP similar genes for CR1 Gene using alignment to 22 proteins:
- CR1_HUMAN
- E9PDY4_HUMAN
- E9PQN4_HUMAN
- H0YE06_HUMAN
- Q5SBJ5_HUMAN
- Q5SBJ6_HUMAN
- Q5SBJ7_HUMAN
- Q5SBJ8_HUMAN
- Q5SBJ9_HUMAN
- Q5SBK0_HUMAN
- Q5SBK1_HUMAN
- Q5SBK2_HUMAN
- Q5SBK3_HUMAN
- Q5SBK4_HUMAN
- Q5SBK5_HUMAN
- Q5SBK6_HUMAN
- Q5SR44_HUMAN
- Q9HB98_HUMAN
- Q9HB99_HUMAN
- Q9HC54_HUMAN
- Q9HC55_HUMAN
- V6EYC3_HUMAN
Pseudogenes.org Pseudogenes for CR1 Gene
Variants for CR1 Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for CR1 Gene
- CR1_HUMAN-P17927
- CR1 contains a system of antigens called the Knops blood group system. Polymorphisms within this system are involved in malarial rosetting, a process associated with cerebral malaria, the major cause of mortality in Plasmodium falciparum malaria. Common Knops system antigens include McCoy (McC) and Sl(a)/Vil (Kn4, or Swain-Langley; Vil or Villien). Sl(a-) phenotype is more common in persons of African descent and may protect against fatal malaria.
- CR1_HUMAN-P17927
- Other polymorphic forms of CR1 contain 23, 37 or 44 Sushi (CCP/SCR) domains instead of the 30 Sushi (CCP/SCR) domains. The most frequent alleles are the F allotype (shown here) and the S allotype (37 repeat Sushi domains). The gene frequencies of the F allotype and S allotype are 0.87 and 0.11 in Caucasians, 0.82 and 0.11 in African Americans, 0.89 and 0.11 in Mexicans.
- CR1_HUMAN-P17927
- Genetic variations in CR1 resulting in CR1 deficiency are involved in protection against severe malaria [MIM:611162]. Parasitized red blood cells (RBCs) from children suffering from severe malaria often adhere to complement receptor 1 (CR1) on uninfected RBCs to form clumps of cells known as rosettes. CR1-deficient red blood cells show greatly reduced rosetting and CR1 deficiency occurs in healthy individuals from malaria-endemic regions.
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CR1 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 993828 | Uncertain Significance: none provided | 207,611,754(+) |
G/T NM_000651.6(CR1):c.6373G>T (p.Val2125Leu) |
MISSENSE | |
| 994233 | Uncertain Significance: none provided | 207,611,706(+) |
G/A NM_000651.6(CR1):c.6325G>A (p.Gly2109Ser) |
MISSENSE | |
| rs115988205 | Likely Benign: not provided | 207,607,240(+) |
C/A NM_000573.4(CR1):c.4461-11C>A |
INTRON | |
| rs1160995265 | Uncertain Significance: not provided | 207,545,489(+) |
C/T NM_000651.6(CR1):c.2413+5C>T |
INTRON | |
| rs1571590802 | Uncertain Significance: Anxiety; Hypothyroidism; Polyarticular arthritis | 207,609,676(+) |
C/A NM_000651.6(CR1):c.6283C>A (p.His2095Asn) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
97.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
11.67;
93.19% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CR1 Gene
- Blood Group Antigen Gene Mutation Database (BGMUT)
- Blood Group System
- Human Gene Mutation Database (HGMD)
- CR1
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- CR1
- Leiden Open Variation Database (LOVD)
- CR1
SNP Genotyping and Copy Number Assays for research
Disorders for CR1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| malaria |
|
|
| plasmodium falciparum malaria |
|
|
| follicular dendritic cell sarcoma |
|
|
| histiocytic and dendritic cell cancer |
|
|
| glomerulonephritis |
|
|
Search CR1 in MalaCards
View complete list of genes associated with diseases
Genatlas disease for CR1 Gene
lupus systemic syndrome
Additional Disease Information for CR1
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot for CR1 Gene
Publications for CR1 Gene
- A human complement receptor 1 polymorphism that reduces Plasmodium falciparum rosetting confers protection against severe malaria. (PMID: 14694201) Cockburn IA … Rowe JA (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 40 72
- CR1 levels and gene polymorphisms exhibit differential association with falciparum malaria in regions of varying disease endemicity. (PMID: 19480840) Sinha S … Habib S (Human immunology 2009) 3 22 40
- A complement receptor-1 polymorphism with high frequency in malaria endemic regions of Asia but not Africa. (PMID: 15578041) Thomas BN … Moulds JM (Genes and immunity 2005) 3 22 40
- Polymorphisms of complement receptor 1 and interleukin-10 genes and systemic lupus erythematosus: a meta-analysis. (PMID: 16133175) Nath SK … Lee YH (Human genetics 2005) 3 22 40
- Quantitative polymorphism of complement receptor type 1 (CR1) in patients undergoing haemodialysis. (PMID: 15069174) Tamano M … Tomino Y (Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2004) 3 22 40
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- complement component (3b/4b) receptor 1 (Knops blood group) [34-100]
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