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CR1L (Complement C3b/C4b Receptor 1 Like) is a Protein Coding gene. Diseases associated with CR1L include Complement Component Receptor 1 and Cortisone Reductase Deficiency. Among its related pathways are Tuberculosis and Hematopoietic cell lineage. An important paralog of this gene is CR1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001848 | complement binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0043235 | receptor complex | IDA | 23382219 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Complement and coagulation cascades | ||
2 | Hematopoietic cell lineage | ||
3 | Legionellosis | ||
4 | Toxoplasmosis |
.34
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5 | Malaria |
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0030449 | regulation of complement activation | IDA | 25284781 |
GO:0045916 | negative regulation of complement activation | IEA | -- |
GO:1903659 | regulation of complement-dependent cytotoxicity | IDA | 25284781 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||
SP2: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CR1L 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cr1l 30 17 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Cr1l 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | sele 31 |
|
ManyToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs12729569 | - | p.Asn402Asp | |||
rs2296158 | - | p.Arg116Gly | |||
rs2796257 | - | p.Leu491Pro | |||
rs3085 | - | p.Ile139Val | |||
rs6683902 | - | p.Ile455Val |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv25546 | CNV | loss | 19812545 |
esv2675458 | CNV | deletion | 23128226 |
esv2676306 | CNV | deletion | 23128226 |
esv2722106 | CNV | deletion | 23290073 |
esv2722117 | CNV | deletion | 23290073 |
esv27524 | CNV | loss | 19812545 |
esv2758993 | CNV | gain+loss | 17122850 |
esv3545666 | CNV | deletion | 23714750 |
esv3578397 | CNV | loss | 25503493 |
esv3588674 | CNV | gain | 21293372 |
esv3588675 | CNV | loss | 21293372 |
esv3891082 | CNV | loss | 25118596 |
nsv8735 | CNV | gain | 18304495 |
nsv8746 | CNV | loss | 18304495 |
nsv8757 | CNV | gain | 18304495 |
nsv945269 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
complement component receptor 1 |
|
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cortisone reductase deficiency |
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