PPFIBP1 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
PPFIBP1
Official Name
PPFIA binding protein 1 [Source:HGNC Symbol;Acc:HGNC:9249]
Ensembl ID
ENSG00000110841
Bio databases IDs NCBI: 8496 Ensembl: ENSG00000110841
Aliases PPFIA binding protein 1, liprin beta 1
Synonyms 4632409B19Rik, hSGT2, hSgt2p, L2, Liprin beta 1, Liprin β 1, NEDSMBA, PPFIA binding protein 1, PTPRF interacting protein, binding protein 1 (liprin beta 1), PTPRF interacting protein, binding protein 1 (liprin β 1), SGT2
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PPFIBP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Cortexillin I, coiled coil
  • Nuf2, DHR10-like domain
  • Autophagy protein 16 (ATG16)
  • Ezrin/radixin/moesin, alpha-helical domain
  • SAM (Sterile alpha motif )
  • Coiled-coiled domain of autophagy-related 16 (Atg16) family proteins
  • SAM domain
  • Rabaptin
  • coiled-coil domain
  • protein binding
  • Sterile alpha motif
  • SAM domain (Sterile alpha motif)
  • Growth-arrest specific micro-tubule binding
  • liprin homology domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • neurodevelopmental disorder with seizures, microcephaly and brain abnormalities
  • non-insulin-dependent diabetes mellitus
  • tinnitus
regulated by
role in cell
  • adhesion

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • Cytoplasm
  • perinuclear region
  • cell cortex
  • cytosol
  • plasma membrane projections
  • lamellipodia

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human PPFIBP1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • neuromuscular junction development
  • cell adhesion

Cellular Component

Where in the cell the gene product is active
  • presynaptic active zone
  • focal adhesion
  • cytosol
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • cadherin binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.