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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CR1 Gene

protein-coding GIFtS: 66
GCID: GC01P207669

complement component (3b/4b) receptor 1 (Knops blood group)

(Previous names: complement component (3b/4b) receptor 1, including Knops...)

Explore 105 diseases affiliated with
CR1 via

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Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Complement Component (3b/4b) Receptor 1 (Knops Blood Group)¹ ²		Complement Component (3b/4b) Receptor 1, Including Knops Blood Group System¹
C3BR² ³ ⁵		C4BR²
CD35¹ ²		C3-Binding Protein²
KN¹ ²		Complement Component Receptor 1²
C3b/C4b Receptor² ³		Complement Receptor Type 1²
CD35 Antigen² ³		Knops Blood Group Antigen²

External Ids:	HGNC: 2334¹	Entrez Gene: 1378²	Ensembl: ENSG00000203710⁷	OMIM: 120620⁵	UniProtKB: P17927³

Export aliases for CR1 gene to outside databases

Previous GC identifers: GC01P206329 GC01P203379 GC01P204312 GC01P204753 GC01P204057 GC01P205736 GC01P178362

(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 CR1:

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 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 its gene have been associated with

gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus and sarcoidosis. Mutations

in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection

against severe malaria. Alternate allele-specific splice variants, encoding different isoforms, have been

characterized. Additional allele specific isoforms, including a secreted form, have been described but have not been

fully characterized. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CR1_HUMAN, P17927

Function: Mediates cellular binding of particles and immune complexes that have activated complement

Gene Wiki entry for CR1 (Complement receptor 1)

(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_167186.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CR1 gene promoter:
GR c-Rel GR-beta c-Myb GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CR1 promoter sequence

Search SABiosciences Chromatin IP Primers for CR1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CR1

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

Entrez Gene cytogenetic band: 1q32 Ensembl cytogenetic band: 1q32.2 HGNC cytogenetic band: 1q32

CR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CR1 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P207669: view genomic region (about GC identifiers)

Start:	207,669,473 bp from pter	End:	207,815,110 bp from pter
Size:	145,638 bases	Orientation:	plus strand

(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: CR1_HUMAN, P17927 (See protein sequence)

Recommended Name: Complement receptor type 1 precursor

Size: 2039 amino acids; 223663 Da

Subunit: Monomer

Subcellular location: Membrane; Single-pass type I membrane protein

5 PDB 3D structures from and Proteopedia for CR1:

1GKG (3D)

1GKN (3D)

1GOP (3D)

1PPQ (3D)

2Q7Z (3D)

Secondary accessions: Q16744 Q16745 Q5SR43 Q5SR45 Q9UQV2

Explore the universe of human proteins at neXtProt for CR1: NX_P17927

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P17927

CR1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000564.2 NP_000642.3

ENSEMBL proteins:

ENSP00000356019 ENSP00000356018 ENSP00000356020 ENSP00000383744 ENSP00000436139

ENSP00000356016 ENSP00000434718

Reactome Protein details: P17927
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for CR1 (CD35)
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	GenScript Custom Purified and Recombinant Proteins Services for CR1
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CR1

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	IDA	6910481
GO:0009986	cell surface	IDA	6978375

CR1 for ontologies About GeneDecksing

CR1 Antibody Products:

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	Abcam antibodies for CR1
	Uscn Antibodies for CR1
	ThermoFisher Antibodies for CR1

Assay Products for CR1:

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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CR1

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

CR1 for domains About GeneDecksing

1 InterPro domain/family:

IPR000436 Sushi_SCR_CCP

Graphical View of Domain Structure for InterPro Entry P17927

ProtoNet protein and cluster: P17927

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

UniProtKB/Swiss-Prot: CR1_HUMAN, P17927

Similarity: Belongs to the receptors of complement activation (RCA) family

Similarity: Contains 30 Sushi (CCP/SCR) domains

(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: CR1_HUMAN, P17927

Function: Mediates cellular binding of particles and immune complexes that have activated complement

Genatlas biochemistry entry for CR1:

complement component (3b/4b) receptor 1 (see RCA@)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): CR1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CR1
		8 QIAGEN miScript miRNA Assays for microRNAs that regulate CR1:
		hsa-miR-28-3p hsa-miR-3140-3p hsa-miR-653 hsa-miR-3611 hsa-miR-1267 hsa-miR-578 hsa-miR-3662 hsa-miR-518f*

		SwitchGear 3'UTR luciferase reporter plasmid: CR1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CR1 OriGene shRNA RFP: CR1 OriGene siRNA: CR1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CR1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for CR1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CR1 (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CR1 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: CR1 (NM_001295)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CR1
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CR1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CR1
		Search LifeMap BioReagents cell lines for CR1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CR1

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
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:0004872	receptor activity	--	--
GO:0004877	complement component C3b receptor activity	IDA	2972794

CR1 for ontologies About GeneDecksing

(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

Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Immune response_Alternative complement pathway

	Immune response Alternative complement pathway	1.00			Immune response_Lectin induced complement pathway	0.56
	Immune response_Alternative complement pathway	1.00			Immune response Lectin Induced complement pathway	0.56

Immune response_Classical complement pathway

Immune response_Classical complement pathway

1.00

Immune response Classic complement pathway

0.98

Immune System

Immune System

1.00

Innate Immune System

0.46

Complement and coagulation cascades

Complement and coagulation cascades

1.00

Complement and Coagulation Cascades

0.72

Phagocytosis of Microbes

Phagocytosis of Microbes

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for CR1

	Immune response Alternative complement pathway
	Immune response Classic complement pathway
	Immune response Lectin Induced complement pathway

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for CR1

Phagocytosis of Microbes

3 GeneGo (Thomson Reuters) Pathways for CR1

	Immune response Alternative complement pathway
	Immune response Classical complement pathway
	Immune response Lectin induced complement pathway

1 BioSystems Pathway for CR1

Complement and Coagulation Cascades

4 Reactome Pathways for CR1

	Regulation of Complement cascade
	Complement cascade
	Immune System
	Innate Immune System

5 Kegg Pathways (Kegg details for CR1):

	Complement and coagulation cascades
	Hematopoietic cell lineage
	Leishmaniasis
	Malaria
	Tuberculosis

CR1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CR1

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

5/10 Interacting proteins for CR1 (P17927³ ENSP00000356016⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 10)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
C3	P01024³, ENSP00000245907⁴	I2D: score=2 STRING: ENSP00000245907
CD55	P08174³, ENSP00000316333⁴	I2D: score=2 STRING: ENSP00000316333
FUT4	P22083³, ENSP00000351602⁴	I2D: score=2 STRING: ENSP00000351602
CR2	P20023³, ENSP00000356024⁴	I2D: score=3 STRING: ENSP00000356024
C1QA	P02745³, ENSP00000363773⁴	I2D: score=1 STRING: ENSP00000363773

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006958	complement activation, classical pathway	IEA	--
GO:0030449	regulation of complement activation	TAS	--
GO:0045087	innate immune response	TAS	--
GO:0045957	negative regulation of complement activation, alternative pathway	IDA	10531307
GO:0045959	negative regulation of complement activation, classical pathway	IDA	6910481

CR1 for ontologies About GeneDecksing

(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

CR1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CR1
10/41 Novoseek chemical compound relationships for CR1 gene (see all 41) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tp 10	88.7	13	17081086 (2), 16498508 (1), 14691437 (1), 17336690 (1) (see all 12)
fmlp	65.7	44	2141826 (4), 1826092 (4), 8656040 (3), 9313830 (3) (see all 17)
hind iii	54	26	12486610 (4), 1671871 (4), 15578041 (2), 9614933 (2) (see all 7)
cr2+	53	1	7957570 (1)
n-formylmethionyl-leucylphenylalanine	48.9	10	10213273 (1), 8894710 (1), 19176760 (1), 14723618 (1)
anaphylatoxin	46.1	5	11414360 (1), 8765013 (1)
zymosan	44.9	1	1330163 (1)
mycophenolate sodium	35.8	1	15701440 (1)
mannose	14.1	5	1593222 (1), 8144972 (1), 8969271 (1), 12626795 (1)
polysaccharide	10.7	3	15388259 (1), 8811881 (1)

Search CenterWatch for drugs/clinical trials and news about CR1

(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 CR1 gene (2 alternative transcripts):

NM_000573.3 NM_000651.4

Unigene Cluster for CR1:

Complement component (3b/4b) receptor 1 (Knops blood group)

Hs.334019 [show with all ESTs]

Unigene Representative Sequence: NM_000651

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000367050(uc009xcj.1) ENST00000367052 ENST00000367051 ENST00000367053(uc009xck.1 uc001hfy.3 uc021pij.1)

ENST00000400960 ENST00000530487(uc010psg.1) ENST00000534202 ENST00000367049(uc009xcl.1 uc001hfx.3)

ENST00000434033 ENST00000450439 ENST00000436595 ENST00000529814

miRNA Products:		OriGene 3'-UTR Clone (see all 2): CR1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CR1
		8 QIAGEN miScript miRNA Assays for microRNAs that regulate CR1:
		hsa-miR-28-3p hsa-miR-3140-3p hsa-miR-653 hsa-miR-3611 hsa-miR-1267 hsa-miR-578 hsa-miR-3662 hsa-miR-518f*

		SwitchGear 3'UTR luciferase reporter plasmid: CR1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CR1 OriGene shRNA RFP: CR1 OriGene siRNA: CR1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CR1

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		GenScript: all cDNA clones in your preferred vector: CR1 (NM_001295)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CR1
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CR1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CR1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse / rat CR1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CR1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CR1

Additional cDNA sequence:

AK298486.1 AK309342.1 BC032550.1 X05309.1 X14362.1 Y00816.1

5 DOTS entries:

DT.452445 DT.86852963 DT.101982006 DT.95368968 DT.75171528

24/30 AceView cDNA sequences (see all 30):

BX094042 T66824 AY114160 AI240881 BU662944 M11617 AI735459 T27695

BE552138 T66823 BU662562 BF374618 AW609089 BF240184 AW293797 H73873

AW809858 BE842195 R01561 BE842236 R00897 AW387993 BE842203 BF374648

GeneLoc Exon Structure

(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

CR1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGGACCTCCA

About this image

CR1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 4 LifeMap Cells

Name

Category

Parietal epithelial cells (PEC) (Adult Stem / Progenitor Cell)

Epithelium, Kidney

VAL-9 (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Enriched erythrocyte-like cells (Generation and expan...)

Parietal epithelial cells (PEC) (Adult Stem / Progenitor Cell)

Epithelium, Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CR1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CR1

SOURCE GeneReport for Unigene cluster: Hs.334019

UniProtKB/Swiss-Prot: CR1_HUMAN, P17927

Tissue specificity: Present on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells

SABiosciences Custom PCR Arrays for CR1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CR1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse / rat CR1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CR1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CR1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CR1

(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 CR1 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	C4BPA⁶ C4BPA⁶ (see all 4)	hypothetical protein LOC419851 complement component 4 binding protein, alpha chai... (see all 4)	9(a) 33(a) (see all 4)	possible ortholog 1 ↔ many (see all 4)	26(2446262-2453125) 26(2498376-2510187)
lizard (Anolis carolinensis)	Reptilia	CD46⁶	--	19(a)	1 → many	GL343255.1(1967040-1983402)
zebrafish (Danio rerio)	Actinopterygii	CR352286.1⁶ CR759867.1⁶ (see all 5)	--	7(a) (see all 5)	possible ortholog possible ortholog (see all 5)	19(45874989-46606132) 19(45630467-45650934)
worm (Caenorhabditis elegans)	Secernentea	T07H6.5³	--	25(a)		X(6321807-6326652) --

ENSEMBL Gene Tree for CR1 (if available)
TreeFam Gene Tree for CR1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CR1 gene

CSMD1² SEZ6L2² SELP² C4BPA² CR2² SELL² CR1L² CSMD3²

SEZ6² SELE² SEZ6L² CSMD2² CD55² CD46² SVEP1²

6 SIMAP similar genes for CR1 using alignment to 21 protein entries: CR1_HUMAN (see all proteins):

CR1L cd21 CR2 CD55 DAF CFHR5

CR1 for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for CR1
PGOHUM00000245187 PGOHUM00000245190

(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

UniProtKB/Swiss-Prot: CR1_HUMAN, P17927

Polymorphism: 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

Polymorphism: 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

Polymorphism: 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

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs115257007^1,2	F,	--	207667495(+)	`GAAATC/AACTGA`	2	--	us2k¹		1		NA	120
rs12078329^1,2	C,F,A,H,	--	207667497(+)	`AATCAC/TTGAGA`	2	--	us2k¹		5		NS EA WA	386
rs143175263^1,2	C,	--	207667502(+)	`CTGAG-/AGGTTG`	2	--	us2k¹		0	--	--	--	--
rs188170517^1,2		--	207667520(+)	`CAAGTA/CTCCGA`	2	--	us2k¹		0	--	--	--	--
rs148073435^1,2		--	207667523(+)	`GTCTCC/TGAGCA`	2	--	us2k¹		0	--	--	--	--
rs76124527^1,2	F,	--	207667549(+)	`GAGTCA/GGAGGA`	2	--	us2k¹		2		WA NA	238
rs143409565^1,2		--	207667577(+)	`ACAGGC/TAGAGA`	2	--	us2k¹		0	--	--	--	--
rs74151013^1,2	C,	--	207667603(+)	`GGAAGG/TCCAGG`	2	--	us2k¹		2		WA	120
rs145804217^1,2		--	207667695(+)	`CAGGAA/GCTCAA`	2	--	us2k¹		0	--	--	--	--
rs181965500^1,2		--	207667745(+)	`GGATAC/TCAGCA`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CR1 (207669473 - 207815110 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 20 variations for CR1
15/20 CNVs (see all 20): 65759 74877 65758 84826 71082 84824 74878 31682 84828 34761 34763 84827 74876 6807 30451
Human Gene Mutation Database (HGMD): CR1

Locus Specific Mutation Databases (LSDB): CR1
Blood Group Antigen Gene Mutation Database (BGMUT) blood group system

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CR1

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(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

CR1 for disorders           About GeneDecksing

OMIM gene information: 120620
OMIM disorders: 607486  611162
20/105 diseases for CR1 (see all 105):    About MalaCards

complement component receptor 1 systemic lupus erythematosus lupus erythematosus gallbladder carcinoma

glomerulonephritis sarcoidosis malaria guillain-barre syndrome

complement factor h deficiency age related macular degeneration dendritic cell sarcoma follicular dendritic cell sarcoma

fibrous histiocytoma afibrinogenemia follicular dendritic cell tumor myasthenia gravis

malignant fibrous histiocytoma plasmodium falciparum malaria arthus reaction carcinoma

6 diseases from the University of Copenhagen DISEASES database for CR1:

Leukemia Systemic lupus erythematosus Malaria Nephritis

Complement deficiency Alzheimer's disease

10/97 Novoseek disease relationships for CR1 gene (see all 97) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lupus erythematosus systemic	59.9	61	15529364 (2), 16133175 (2), 1833542 (2), 1352746 (2) (see all 33)
proliferative diffuse glomerulonephritis	49.4	3	8809140 (1), 10787010 (1)
malaria falciparum	49.1	13	19480840 (3), 11425154 (2), 16277654 (1), 18954261 (1) (see all 6)
afibrinogenemia	48.5	1	10358211 (1)
lupus nephritis	46.5	9	1821024 (3), 11135068 (3), 8809140 (1)
malaria cerebral	41.9	6	18954261 (4), 15578041 (1)
malaria	38	41	14694201 (4), 12486610 (3), 18954261 (3), 12445729 (2) (see all 18)
anemia severe	38	1	10666228 (1)
hemolysis	34.3	5	15334181 (2), 19367713 (1), 1828610 (1)
anemia hemolytic	30.6	5	10343158 (1), 7529808 (1), 10640768 (1), 10698335 (1)

Genatlas disease: CR1

lupus systemic syndrome

Genetic Association Database (GAD): CR1
Human Genome Epidemiology (HuGE) Navigator: CR1 (52 documents)

Export disorders for CR1 gene to outside databases

(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 CR1 gene, integrated from 9 sources (see all 588):
(articles sorted by number of sources associating them with CR1)

Utopia: connect your pdf to the dynamic
world of online information

A human complement receptor 1 polymorphism that reduces Plasmodium falciparum rosetting confers protection against severe malaria. (PubMed id 14694201)^{1, 2, 4, 9} Cockburn I.A....Rowe J.A. (2004)
Association of complement receptor 1 (CR1, CD35, C3b/C4b receptor) density polymorphism with glomerulonephritis in Indian subjects. (PubMed id 15072851)^{1, 4, 9} Katyal M....Das N. (2004)
Polymorphisms of complement receptor 1 and interleukin-10 genes and systemic lupus erythematosus: a meta-analysis. (PubMed id 16133175)^{1, 4, 9} Nath S.K....Lee Y.H. (2005)
Genetic and structural polymorphism of complement receptor 1 in normal Indian subjects. (PubMed id 14556965)^{1, 4, 9} Katyal M....Das N. (2003)
Quantitative polymorphism of complement receptor type 1 (CR1) in patients undergoing haemodialysis. (PubMed id 15069174)^{1, 4, 9} Tamano M....Tomino Y. (2004)
Structure of the C3b binding site of CR1 (CD35), the immune adherence receptor. (PubMed id 11955431)^{1, 2, 9} Smith B.O.... Barlow P.N. (2002)
The C3b/C4b receptor is recognized by the Knops, McCoy, Swain-langley, and York blood group antisera. (PubMed id 1708809)^{1, 3, 9} Moulds J.M....Atkinson J.P. (1991)
A complement receptor-1 polymorphism with high frequency in malaria endemic regions of Asia but not Africa. (PubMed id 15578041)^{1, 4, 9} Thomas B.N....Moulds J.M. (2005)
The polymorphism C5507G of complement receptor 1 does not explain idiopathic pulmonary fibrosis among the Finns. (PubMed id 15733500)^{1, 4, 9} Hodgson U....Laitinen T. (2005)
Complement receptor 1 polymorphisms associated with resistance to severe malaria in Kenya. (PubMed id 16277654)^{1, 4, 9} Thathy V....Stoute J.A. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1378	HGNC: 2334	AceView: CR1L	Ensembl:ENSG00000203710	euGenes: HUgn1378
ECgene: CR1	Kegg: 1378	H-InvDB: CR1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CR1	Pharmacogenomics, SNPs, Pathways
dbRBC/BGMUT	http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=knops

Intellectual Property for CR1 gene
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Patent Information for CR1 gene:
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complement component (3b/4b) receptor 1 (Knops blood group)

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CR1 Gene

complement component (3b/4b) receptor 1 (Knops blood group)

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