Neurodevelopmental MACPFs: The vertebrate astrotactins and BRINPs

Semin Cell Dev Biol. 2017 Dec:72:171-181. doi: 10.1016/j.semcdb.2017.05.005. Epub 2017 May 12.

Abstract

Astrotactins (ASTNs) and Bone morphogenetic protein/retinoic acid inducible neural-specific proteins (BRINPs) are two groups of Membrane Attack Complex/Perforin (MACPF) superfamily proteins that show overlapping expression in the developing and mature vertebrate nervous system. ASTN(1-2) and BRINP(1-3) genes are found at conserved loci in humans that have been implicated in neurodevelopmental disorders (NDDs). Here we review the tissue distribution and cellular localization of these proteins, and discuss recent studies that provide insight into their structure and interactions. We highlight the genetic relationships and co-expression of Brinps and Astns; and review recent knock-out mouse phenotypes that indicate a possible overlap in protein function between ASTNs and BRINPs.

Keywords: ASTN1; ASTN2; BRINP1; BRINP2; BRINP3; MACPF domain.

Publication types

  • Review

MeSH terms

  • Animals
  • Cell Cycle Proteins
  • Complement Membrane Attack Complex / genetics*
  • Complement Membrane Attack Complex / metabolism
  • Gene Expression Regulation, Developmental*
  • Glycoproteins / genetics
  • Glycoproteins / metabolism
  • Humans
  • Mice
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism
  • Nervous System / growth & development
  • Nervous System / metabolism*
  • Perforin / genetics*
  • Perforin / metabolism
  • Vertebrates / genetics*
  • Vertebrates / growth & development
  • Vertebrates / metabolism

Substances

  • Astn1 protein, mouse
  • BRINP1 protein, mouse
  • Cell Cycle Proteins
  • Complement Membrane Attack Complex
  • Glycoproteins
  • Nerve Tissue Proteins
  • Perforin