Genomic organization, chromosomal localization, alternative splicing, and isoforms of the human synaptosome-associated protein-23 gene implicated in vesicle-membrane fusion processes

P. A. Lazo, M. Nadal, M. Ferrer, E. Area, J. Hernández-Torres, S. M. Nabokina, F. Mollinedo, Xavier P. Estivill

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Synaptosome-associated protein-23 (SNAP23) is a component of the cellular mechanism required for specific membrane fusion and targetting of intracellular vesicles. We have cloned the full-length human cDNA and the SNAP23 gene. The SNAP23 gene has eight exons, with the initiation codon located in exon 2, and maps to the human chromosome 15q21-22 region. The human SNAP23 gene can generate two types of message, the full-length message (SNAP23A) and a shorter message (SNAP23B). The latter is the result of alternative splicing where exon 5 is joined to exon 7 and the skipping of exon 6; it thus lacks a region that is required for non-specific binding to plasma membranes. The two isoforms, expressed as fusion proteins with glutathione-S-transferase, interact in vitro with human syntaxin 6, thus retaining the specific protein interaction required for membrane fusion. Alterations in the SNAP23 gene might be involved in neurological and other diseases with defects in vesicle-membrane fusion processes that map to 15q15-21.

Original languageEnglish
Pages (from-to)211-215
Number of pages5
JournalHuman Genetics
Volume108
Issue number3
DOIs
Publication statusPublished - 2001
Externally publishedYes

Fingerprint

Membrane Fusion
Synaptosomes
Alternative Splicing
Protein Isoforms
Exons
Proteins
Qa-SNARE Proteins
Chromosomes, Human, Pair 22
Initiator Codon
Human Chromosomes
Glutathione Transferase
Complementary DNA
Cell Membrane

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Genomic organization, chromosomal localization, alternative splicing, and isoforms of the human synaptosome-associated protein-23 gene implicated in vesicle-membrane fusion processes. / Lazo, P. A.; Nadal, M.; Ferrer, M.; Area, E.; Hernández-Torres, J.; Nabokina, S. M.; Mollinedo, F.; Estivill, Xavier P.

In: Human Genetics, Vol. 108, No. 3, 2001, p. 211-215.

Research output: Contribution to journalArticle

Lazo, P. A. ; Nadal, M. ; Ferrer, M. ; Area, E. ; Hernández-Torres, J. ; Nabokina, S. M. ; Mollinedo, F. ; Estivill, Xavier P. / Genomic organization, chromosomal localization, alternative splicing, and isoforms of the human synaptosome-associated protein-23 gene implicated in vesicle-membrane fusion processes. In: Human Genetics. 2001 ; Vol. 108, No. 3. pp. 211-215.
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AU - Area, E.

AU - Hernández-Torres, J.

AU - Nabokina, S. M.

AU - Mollinedo, F.

AU - Estivill, Xavier P.

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