PPFIBP1 - PPFIA binding protein 1 Gene
Also Known as L2; SGT2; hSGT2; hSgt2p; NEDSMBA
Species: Homo sapiens
About PPFIBP1
This gene has 18 transcripts (splice variants), 284 orthologues, 5 paralogues and is associated with 81 phenotypes. Ubiquitous expression in ovary (RPKM 22.3), heart (RPKM 16.3) and 24 other tissues.
Summary
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 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001198915.2 | NP_001185844.1 | liprin-beta-1 isoform 3 |
| NM_001198916.2 | NP_001185845.2 | liprin-beta-1 isoform 4 |
| NM_003622.4 | NP_003613.4 | liprin-beta-1 isoform 1 |
| NM_177444.3 | NP_803193.3 | liprin-beta-1 isoform 2 |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15161933 | GOA |
| Biological Process GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| involved in cortical microtubule organization |
IMP
IMP: Inferred from mutant phenotype
|
24120883 | GOA |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| located in cell cortex |
IDA
IDA: Inferred from direct assay
|
24120883 | GOA |
PPFIBP1 Protein Structure
SAM_1: SAM domain (Sterile alpha motif) (646 - 708)
SAM_1: SAM domain (Sterile alpha motif) (720 - 780)
SAM_2: SAM domain (Sterile alpha motif) (807 - 873)
- 0
- 200
- 400
- 600
- 800
- 1011 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
liprin-beta-1 |
|
PPFIBP1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Verweise |
|---|---|---|---|---|---|---|---|
|
Intra
|
PPFIBP1 | Q86W92 | YWHAZ | Homo sapiens | P63104 | 15161933 | |
|
Intra
|
PPFIBP1 | Q86W92 | PBX2 | Homo sapiens | P40425 | 32296183 | |
|
Intra
|
PPFIBP1 | Q86W92 | PBX2 | Homo sapiens | P40425 | 32296183 | |
|
Intra
|
PPFIBP1 | Q86W92 | YWHAE | Homo sapiens | P62258 | 36931259 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
|
| Microcephaly |
|
|
| Malignant Giant Cell Tumor Of Soft Parts |
|
|
| Inflammatory Myofibroblastic Tumor |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | PPFIBP1 | VGNC | VGNC:97807 |
| Canis familiaris | PPFIBP1 | VGNC | VGNC:44847 |
| Felis catus | PPFIBP1 | VGNC | VGNC:68985 |
| Mus musculus | PPFIBP1 | MGD | MGI:1914783 |
| Rattus norvegicus | PPFIBP1 | RGD | RGD:1310010 |
| Bos taurus | PPFIBP1 | VGNC | VGNC:33193 |
| Others | PPFIBP1 | NCBI |