CR1 (complement C3b/C4b receptor 1 (Knops blood group))

2007-02-01  

Identity

HGNC
CR1
LOCATION
1q32.2
LOCUSID
1378
ALIAS
C3BR,C4BR,CD35,KN
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1378
MIM: 120620
HGNC: 2334
Ensembl: ENSG00000203710

Variants:

dbSNP: 1378
ClinVar: 1378
TCGA: ENSG00000203710
COSMIC: CR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000203710ENST00000367049E9PDY4
ENSG00000203710ENST00000367051P17927
ENSG00000203710ENST00000367052Q5SR44
ENSG00000203710ENST00000367053P17927
ENSG00000203710ENST00000400960P17927
ENSG00000203710ENST00000529814H0YE06
ENSG00000203710ENST00000534202E9PQN4

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Complement and coagulation cascadesKEGGko04610
Hematopoietic cell lineageKEGGko04640
Complement and coagulation cascadesKEGGhsa04610
Hematopoietic cell lineageKEGGhsa04640
LeishmaniasisKEGGko05140
LeishmaniasisKEGGhsa05140
MalariaKEGGko05144
MalariaKEGGhsa05144
TuberculosisKEGGko05152
TuberculosisKEGGhsa05152
LegionellosisKEGGko05134
LegionellosisKEGGhsa05134
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Complement cascadeREACTOMER-HSA-166658
Regulation of Complement cascadeREACTOMER-HSA-977606
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164776637eculizumabChemicalClinicalAnnotationassociatedPD24038027
PA166122772paroxysmal nocturnal hemoglobinuriaDiseaseClinicalAnnotationassociatedPD24038027

References

Pubmed IDYearTitleCitations
197349032009Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease.889
197349032009Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease.889
206970302010Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes.158
206970302010Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes.158
205347412010Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.108
205347412010Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.108
205583872010Genetic variation and neuroimaging measures in Alzheimer disease.106
208555942010Complement receptor 1 is the host erythrocyte receptor for Plasmodium falciparum PfRh4 invasion ligand.92
205546272010Replication of CLU, CR1, and PICALM associations with alzheimer disease.86
205546272010Replication of CLU, CR1, and PICALM associations with alzheimer disease.86

Citation

Dessen P

CR1 (complement C3b/C4b receptor 1 (Knops blood group))

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46094/cr1