SEC31A

SEC31A

SEC31A

Protein-coding gene in the species Homo sapiens

Protein transport protein Sec31A is a protein that in humans is encoded by the SEC31A gene.[5][6][7]

Quick Facts Available structures, PDB ...

The protein encoded by this gene is similar to the SEC31 protein from yeast. The yeast SEC31 protein is known to be a component of the COPII protein complex, which is responsible for vesicle budding from endoplasmic reticulum (ER). This protein was found to colocalize with SEC13, one of the other components of COPII, in the subcellular structures corresponding to the vesicle transport function. An immunodepletion experiment confirmed that this protein is required for ER-Golgi transport. Alternative splicing results in multiple transcript variants encoding different isoforms.[7]

Halperin-Birk syndrome (HLBKS), a rare autosomal recessive neurodevelopmental disorder, is caused by a null mutation in the SEC31A gene.[8]

References

  1. [1]
    GRCh38: Ensembl release 89: ENSG00000138674 – Ensembl, May 2017
  2. [2]
    GRCm38: Ensembl release 89: ENSMUSG00000035325 – Ensembl, May 2017
  3. [3]
    "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. [4]
    "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. [5]
    Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, et al. (December 1998). "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 5 (6): 355–364. doi:10.1093/dnares/5.6.355. PMID 10048485.
  6. [6]
    Tang BL, Zhang T, Low DY, Wong ET, Horstmann H, Hong W (May 2000). "Mammalian homologues of yeast sec31p. An ubiquitously expressed form is localized to endoplasmic reticulum (ER) exit sites and is essential for ER-Golgi transport". The Journal of Biological Chemistry. 275 (18): 13597–13604. doi:10.1074/jbc.275.18.13597. PMID 10788476.
  7. [7]
    "Entrez Gene: SEC31A SEC31 homolog A (S. cerevisiae)".
  8. [8]
    Halperin D, Kadir R, Perez Y, Drabkin M, Yogev Y, Wormser O, et al. (March 2019). "SEC31A mutation affects ER homeostasis, causing a neurological syndrome". Journal of Medical Genetics. 56 (3): 139–148. doi:10.1136/jmedgenet-2018-105503. PMID 30464055. S2CID 53717389.

Further reading

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