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The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PPFIBP1 (PPFIA Binding Protein 1) is a Protein Coding gene. Diseases associated with PPFIBP1 include Inflammatory Myofibroblastic Tumor. Among its related pathways are Glucose / Energy Metabolism and Neuroscience. Gene Ontology (GO) annotations related to this gene include integrase activity. An important paralog of this gene is PPFIBP2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA,IPI | 32296183 |
GO:0045296 | cadherin binding | HDA | 25468996 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | NAS | 9624153 |
GO:0005925 | focal adhesion | HDA | 21423176 |
GO:0048786 | presynaptic active zone | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Adhesion |
-
|
|
2 | Glucose / Energy Metabolism | ||
3 | Neuroscience |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007155 | cell adhesion | TAS | 9624153 |
GO:0007528 | neuromuscular junction development | IBA | 21873635 |
GO:0050808 | synapse organization | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6876 |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | ^ | 19a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP15: |
ExUns: | 19b | ^ | 20a | · | 20b | ^ | 21a | · | 21b | · | 21c | ^ | 22a | · | 22b | ^ | 23a | · | 23b | ^ | 24 | ^ | 25a | · | 25b | · | 25c | ^ | 26a | · | 26b | ^ | 27 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||||||
SP11: | |||||||||||||||||||||||||||||||||
SP12: | |||||||||||||||||||||||||||||||||
SP13: | |||||||||||||||||||||||||||||||||
SP14: | |||||||||||||||||||||||||||||||||
SP15: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PPFIBP1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PPFIBP1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PPFIBP1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PPFIBP1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ppfibp1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ppfibp1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PPFIBP1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PPFIBP1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PPFIBP1 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | LOC398525 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | PPFIBP1 (1 of 2) 31 |
|
OneToMany | |
ppfibp1 30 |
|
||||
PPFIBP1 (2 of 2) 31 |
|
OneToMany | |||
Dr.15202 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10751 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010342 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Liprin-beta 30 31 |
|
OneToMany | |
CG10743 32 |
|
|
|||
CG11206 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | hlb-1 30 31 |
|
OneToMany | |
T21H8.1 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs2194816 | - |
p.Val148Leu |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1406n100 | CNV | gain | 25217958 |
dgv189n27 | CNV | gain | 19166990 |
dgv2417n54 | CNV | gain | 21841781 |
dgv2420n54 | CNV | gain | 21841781 |
dgv271e199 | CNV | deletion | 23128226 |
dgv7e197 | CNV | deletion | 19546169 |
esv2168060 | CNV | deletion | 18987734 |
esv25573 | CNV | loss | 19812545 |
esv2658186 | CNV | deletion | 23128226 |
esv2745664 | CNV | deletion | 23290073 |
esv2745669 | CNV | deletion | 23290073 |
esv2745670 | CNV | deletion | 23290073 |
esv3365278 | CNV | duplication | 20981092 |
esv3628940 | CNV | gain | 21293372 |
esv3628943 | CNV | gain | 21293372 |
esv3628944 | CNV | loss | 21293372 |
esv3892167 | CNV | gain | 25118596 |
esv5097 | CNV | loss | 18987735 |
nsv436825 | CNV | insertion | 17901297 |
nsv470280 | CNV | gain | 18288195 |
nsv520981 | CNV | loss | 19592680 |
nsv521002 | CNV | loss | 19592680 |
nsv521872 | CNV | gain | 19592680 |
nsv557822 | CNV | loss | 21841781 |
nsv832358 | CNV | gain | 17160897 |
nsv957282 | CNV | deletion | 24416366 |
nsv976589 | CNV | duplication | 23825009 |
nsv976590 | CNV | duplication | 23825009 |
nsv976591 | CNV | duplication | 23825009 |
nsv976592 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
inflammatory myofibroblastic tumor |
|
|