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APBB1IP (Amyloid Beta Precursor Protein Binding Family B Member 1 Interacting Protein) is a Protein Coding gene. Among its related pathways are RET signaling and Integrin alphaIIb beta3 signaling. An important paralog of this gene is RAPH1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 22084112 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005886 | plasma membrane | IDA,IBA | -- |
GO:0005925 | focal adhesion | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
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2 | Paradoxical activation of RAF signaling by kinase inactive BRAF | ||
3 | Integrin alphaIIb beta3 signaling | ||
4 | Developmental Biology |
.51
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5 | Cytokine Signaling in Immune system |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002291 | T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell | IEA | -- |
GO:0007165 | signal transduction | IEA | -- |
GO:0045785 | positive regulation of cell adhesion | IEA | -- |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||
SP4: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | APBB1IP 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | APBB1IP 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | APBB1IP 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Apbb1ip 32 |
|
||
mouse (Mus musculus) |
Mammalia | Apbb1ip 17 33 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | APBB1IP 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | APBB1IP 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | APBB1IP 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | APBB1IP 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | apbb1ip 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | apbb1ip 33 32 |
|
OneToOne | |
zgc63968 32 |
|
||||
fruit fly (Drosophila melanogaster) |
Insecta | pico 33 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | mig-10 33 |
|
OneToMany |
SNP ID | Clin | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000018341 | -- | 26,516,568(+) | C/A/T | intron_variant | |
rs1000031655 | -- | 26,475,038(+) | G/T | genic_upstream_transcript_variant, intron_variant | |
rs1000039312 | -- | 26,504,692(+) | A/G | intron_variant | |
rs1000048075 | -- | 26,450,884(+) | C/G | genic_upstream_transcript_variant, intron_variant | |
rs1000060830 | -- | 26,556,702(+) | G/A | intron_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv381n106 | CNV | deletion | 24896259 |
esv2129666 | CNV | deletion | 18987734 |
esv2477507 | CNV | deletion | 19546169 |
esv2669291 | CNV | deletion | 23128226 |
esv2734362 | CNV | deletion | 23290073 |
esv2734373 | CNV | deletion | 23290073 |
esv2734384 | CNV | deletion | 23290073 |
esv3305653 | CNV | mobile element insertion | 20981092 |
esv3308386 | CNV | mobile element insertion | 20981092 |
esv3327751 | CNV | insertion | 20981092 |
esv3397237 | CNV | insertion | 20981092 |
esv3430362 | CNV | insertion | 20981092 |
esv3546049 | CNV | deletion | 23714750 |
esv3622690 | CNV | loss | 21293372 |
esv3891778 | CNV | gain | 25118596 |
esv4688 | CNV | loss | 18987735 |
esv9007 | CNV | loss | 19470904 |
nsv1043832 | CNV | gain | 25217958 |
nsv1069033 | CNV | deletion | 25765185 |
nsv1151992 | CNV | deletion | 26484159 |
nsv24111 | CNV | deletion | 16902084 |
nsv476554 | CNV | novel sequence insertion | 20440878 |
nsv520311 | CNV | gain | 19592680 |
nsv523178 | CNV | loss | 19592680 |
nsv550229 | CNV | loss | 21841781 |
nsv951257 | CNV | duplication | 24416366 |
nsv956893 | CNV | deletion | 24416366 |
No disorders were found for APBB1IP Gene.