- Also known as
- PLEXA4; PLXNA4A; PLXNA4B; FAYV2820; PRO34003
- Expression
- Broad expression in fat (RPKM 7.3), brain (RPKM 3.4) and 14 other tissues See more
- Preferred Names
- plexin-A4
- Names
- epididymis secretory sperm binding protein
Plexin-A4 isoform 1 precursor( longest isoform)
https://www.ncbi.nlm.nih.gov/protein/NP_065962.1
Conserved Domains (7) summary
Conserved Domains (7) summary
- cd11274
Location:39 → 511 - Sema_plexin_A4; The Sema domain, a protein interacting module, of Plexin A4
- cd00603
Location:1142 → 1222 - IPT_PCSR; IPT domain of Plexins and Cell Surface Receptors (PCSR) and related proteins . This subgroup contains IPT domains of plexins, receptors, like the plasminogen-related growth factor receptors, the hepatocyte growth factor-scatter factors, and the ...
- cd01179
Location:955 → 1038 - IPT_plexin_repeat2; Second repeat of the IPT domain of Plexins and Cell Surface Receptors (PCSR) . Plexins are involved in the regulation of cell proliferation and of cellular adhesion and repulsion receptors. In general, there are three copies of the IPT domain present ...
- cd01180
Location:858 → 953 - IPT_plexin_repeat1; First repeat of the IPT domain of Plexins and Cell Surface Receptors (PCSR) . Plexins are involved in the regulation of cell proliferation and of cellular adhesion and repulsion receptors. In general, there are three copies of the IPT domain present ...
- cd01181
Location:1040 → 1140 - IPT_plexin_repeat3; Third repeat of the IPT domain of Plexins and Cell Surface Receptors (PCSR) . Plexins are involved in the regulation of cell proliferation and of cellular adhesion and repulsion receptors. In general, there are three copies of the IPT domain present ...
- pfam01437
Location:509 → 555 - PSI; Plexin repeat
- pfam08337
Location:1311 → 1864 - Plexin cytoplasmic RasGAP domain
This family features the C-terminal regions of various plexins. Plexins are receptors for semaphorins, and plexin signalling is important in path finding and patterning of both neurons and developing blood vessels. The cytoplasmic region, which has been called a SEX domain in some members of this family, is involved in downstream signalling pathways, by interaction with proteins such as Rac1, RhoD, Rnd1 and other plexins. This domain acts as a RasGAP domain.
Compare: Short isoforms:
Plexin isoform 2
522 a.a.
https://www.ncbi.nlm.nih.gov/protein/NP_861440.2
Related articles in PubMed
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PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation.
Jun G, et al. Ann Neurol, 2014 Sep. PMID 25043464, Free PMC Article
Genome-wide significant association was identified with a PLXNA4 single nucleotide polymorphism (rs277470) located in a region encoding the semaphorin-3A (SEMA3A) binding domain (meta-analysis p value [meta-P] = 4.1 × 10(-8) ). A test for association with the entire region was also significant (meta-P = 3.2 × 10(-4) ). Transfection of SH-SY5Y cells or primary rat neurons with full-length PLXNA4 (TS1) increased tau phosphorylation with stimulated by SEMA3A. The opposite effect was observed when cells were transfected with shorter isoforms (TS2 and TS3). However, transfection of any isoform into HEK293 cells stably expressing amyloid β (Aβ) precursor protein (APP) did not result in differential effects on APP processing or Aβ production. Late stage AD cases (n = 9) compared to controls (n = 5) had 1.9-fold increased expression of TS1 in cortical brain tissue (p = 1.6 × 10(-4) ). Expression of TS1 was significantly correlated with the Clinical Dementia Rating score (ρ = 0.75, p = 2.2 × 10(-4) ), plaque density (ρ = 0.56, p = 0.01), and Braak stage (ρ = 0.54, p = 0.02).
INTERPRETATION:
Our results indicate that PLXNA4 has a role in AD pathogenesis through isoform-specific effects on tau phosphorylation.
- Rare variants in PLXNA4 and Parkinson's disease. Schulte EC, et al. PLoS One, 2013. PMID 24244438, Free PMC Article
- The molecular genetic architecture of self-employment. van der Loos MJ, et al. PLoS One, 2013. PMID 23593239, Free PMC Article
- Plexin-A4 promotes tumor progression and tumor angiogenesis by enhancement of VEGF and bFGF signaling. Kigel B, et al. Blood, 2011 Oct 13. PMID 21832283
- 2006 expressed-sequence tags derived from human chromosome 7-enriched cDNA libraries. Touchman JW, et al. Genome Res, 1997 Mar. PMID 9074931
GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?
- Both CLU and PLXNA4 have been genetically associated with Alzheimer disease (AD) risk and our data thus provide a direct relationship between two AD risk genes. Our data suggest that increasing the levels of PLXNA4 or targeting CLU-PLXNA4 interactions may have therapeutic value in AD.
- Data indicate that plexin A1-4 (PLXNA1-4) mediation of neuroanatomical traits can be detected using in vivo neuroimaging techniques.
- There is a significant association between Alzheimer's disease risk and SNPs in PLXNA4.
- Rare variants in PLXNA4 and Parkinson's disease.
- Plexin-A4 promotes tumor progression and tumor angiogenesis by enhancement of VEGF and bFGF signaling.
- Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
- Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
- Observational study of gene-disease association. (HuGE Navigator)
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