2. Gene
  3. PPFIBP1 - PPFIA binding protein 1 Gene

PPFIBP1 - PPFIA binding protein 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as L2; SGT2; hSGT2; hSgt2p; NEDSMBA

Gene ID: 8496 | Gene type: protein coding

About PPFIBP1

Cytogenetic location: 12p11.23-p11.22 Genomic coordinates (GRCh38): 12:27,524,206-27,695,564 (from NCBI)

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
15161933 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cortical microtubule organization IMP
IMP: Inferred from mutant phenotype
24120883 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cell cortex IDA
IDA: Inferred from direct assay
24120883 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PPFIBP1 Protein Structure

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (646 - 708)

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (720 - 780)

SAM_2

SAM_2: SAM domain (Sterile alpha motif) (807 - 873)

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  • 800
  • 1011 a.a.
Protein Preferred Names Protein Names

liprin-beta-1

PTPRF interacting protein, binding protein 1 (liprin beta 1)

PPFIBP1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
PPFIBP1 Q86W92 YWHAZ Homo sapiens P63104
Pull Down
15161933
Intra
PPFIBP1 Q86W92 PBX2 Homo sapiens P40425
Y2H Prey Pooling
32296183
Intra
PPFIBP1 Q86W92 PBX2 Homo sapiens P40425
Y2H Array
32296183
Intra
PPFIBP1 Q86W92 YWHAE Homo sapiens P62258
Crosslink
36931259
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities

NEDSMBA
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Malignant Giant Cell Tumor Of Soft Parts

Malignant Giant Cell Neoplasm Of Soft Parts
Inflammatory Myofibroblastic Tumor

Inflammatory Fibrosarcoma
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10943 PPFIBP1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

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