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LRRFIP1 (LRR Binding FLII Interacting Protein 1) is a Protein Coding gene. Diseases associated with LRRFIP1 include Marasmus. Among its related pathways are HIV Life Cycle and Innate Immune System. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and double-stranded RNA binding. An important paralog of this gene is LRRFIP2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 14522076 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IBA | 21873635 |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IDA | 14522076 |
GO:0003677 | DNA binding | IEA,IDA | 23099021 |
GO:0003725 | double-stranded RNA binding | TAS | 9671805 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | TAS | 9671805 |
GO:0005829 | cytosol | TAS | -- |
GO:0005856 | cytoskeleton | TAS | 9671805 |
GO:0005886 | plasma membrane | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | FGFR1 mutant receptor activation | ||
2 | Cytosolic sensors of pathogen-associated DNA | ||
3 | HIV Life Cycle |
.45
|
|
4 | Innate Immune System |
.61
|
|
5 | Signaling by FGFR2 in disease |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 14522076 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0032481 | positive regulation of type I interferon production | TAS | -- |
GO:0051092 | positive regulation of NF-kappaB transcription factor activity | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | · | 12c | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | · | 16c | ^ | 17a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: |
ExUns: | 17b | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b |
---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||
SP2: | |||||||||
SP3: | |||||||||
SP4: | - | ||||||||
SP5: | |||||||||
SP6: | |||||||||
SP7: | |||||||||
SP8: | |||||||||
SP9: | |||||||||
SP10: | |||||||||
SP11: | - | ||||||||
SP12: | |||||||||
SP13: | - | ||||||||
SP14: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | LRRFIP1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LRRFIP1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Lrrfip1 30 17 31 |
|
OneToOne | |
Chimpanzee (Pan troglodytes) |
Mammalia | LRRFIP1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | LRRFIP1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | LRRFIP1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LRRFIP1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | LRRFIP1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | lrrfip1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.15436 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | lrrfip1b 30 31 |
|
OneToMany | |
lrrfip1a 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG8578 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | flap-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5234 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs113302264 | Benign: not provided | 237,749,309(+) |
C/T NM_001137550.2(LRRFIP1):c.780C>T (p.Ser260=) |
SYNONYMOUS | |
VAR_036037 | A breast cancer sample |
p.Ser68Cys |
|||
rs2001301 | - |
p.Asn418Ser |
|||
rs3213869 | - |
p.Gln275Arg |
|||
rs3739038 | - |
p.His783Asp |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1221e212 | CNV | loss | 25503493 |
dgv2181n106 | CNV | deletion | 24896259 |
dgv7345n54 | CNV | loss | 21841781 |
dgv7346n54 | CNV | loss | 21841781 |
dgv7347n54 | CNV | loss | 21841781 |
esv1004389 | CNV | deletion | 20482838 |
esv23602 | CNV | loss | 19812545 |
esv24426 | CNV | loss | 19812545 |
esv2660099 | CNV | deletion | 23128226 |
esv2664469 | CNV | deletion | 23128226 |
esv2721737 | CNV | deletion | 23290073 |
esv2721738 | CNV | deletion | 23290073 |
esv3561236 | CNV | deletion | 23714750 |
esv3594748 | CNV | loss | 21293372 |
esv4182 | CNV | loss | 18987735 |
esv997081 | CNV | insertion | 20482838 |
nsv1000252 | CNV | loss | 25217958 |
nsv1010093 | CNV | gain | 25217958 |
nsv1073026 | CNV | deletion | 25765185 |
nsv1122022 | CNV | deletion | 24896259 |
nsv3230 | CNV | insertion | 18451855 |
nsv507077 | OTHER | sequence alteration | 20534489 |
nsv508893 | CNV | insertion | 20534489 |
nsv518573 | CNV | gain | 19592680 |
nsv519961 | CNV | loss | 19592680 |
nsv584746 | CNV | loss | 21841781 |
nsv584752 | CNV | loss | 21841781 |
nsv584753 | CNV | loss | 21841781 |
nsv963784 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
marasmus |
|
|