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APBB1IP (Amyloid Beta Precursor Protein Binding Family B Member 1 Interacting Protein) is a Protein Coding gene. Diseases associated with APBB1IP include Leukocyte Adhesion Deficiency, Type I and Cerebral Cavernous Malformations. Among its related pathways are RET signaling and Paradoxical activation of RAF signaling by kinase inactive BRAF. 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 | IBA,IDA | -- |
GO:0005925 | focal adhesion | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
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2 | Paradoxical activation of RAF signaling by kinase inactive BRAF | ||
3 | Integrin alphaIIb beta3 signaling | ||
4 | Developmental Biology |
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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 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | APBB1IP 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | APBB1IP 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Apbb1ip 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Apbb1ip 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | APBB1IP 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | APBB1IP 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | APBB1IP 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | APBB1IP 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | apbb1ip 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | apbb1ip 30 31 |
|
OneToOne | |
zgc63968 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | pico 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | mig-10 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
718773 | Benign: not provided | 26,560,760(+) | C/T | MISSENSE_VARIANT | |
722250 | Benign: not provided | 26,511,839(+) | C/T | SYNONYMOUS_VARIANT | |
768352 | Benign: not provided | 26,567,352(+) | C/T | MISSENSE_VARIANT | |
780852 | Benign: not provided | 26,567,336(+) | G/A | MISSENSE_VARIANT | |
rs34081356 | - | p.Thr404Ala |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
leukocyte adhesion deficiency, type i |
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cerebral cavernous malformations |
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leukocyte adhesion deficiency, type iii |
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