Structural annotation of Beta-1,4-N-acetyl galactosaminyltransferase 1 (B4GALNT1) causing Hereditary Spastic Paraplegia 26

Rubina Dad, Uzma Malik, Aneela Javed, Berge A. Minassian, Muhammad Jawad Hassan

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Beta-1,4-N-acetyl galactosaminyltransferase 1, B4GALNT1, is a GM2/GD2 synthase, involved in the expression of glycosphingolipids (GSLs) containing sialic acid. Mutations in the gene B4GALNT1 cause Hereditary Spastic Paraplegia 26 (HSP26). In present study we have made attempt to predict the potential structural of the human B4GALNT1 protein. The results illustrated that the amino acid sequences of B4GALNT1 are not 100% conserved among selected twenty species. One signal peptide and one transmembrane domain predicted in human wild type B4GALNT1 protein with aliphatic index of 92.76 and theoretical (iso-electric point) pI of 8.93. It was a kind of unstable protein with Grand average of hydropathicity (GRAVY) of − 0.127. Various post-translational modifications were also predicted to exist in B4GALNT1 and predicted to interact with different proteins including ST8SIA5, SLC33A1, GLB1 and others. In the final round, reported missense mutations have shown the further decrease in stability of the protein. This in-silico analysis of B4GALNT1 protein will provide the basis for the further studies on structural variations and biological pathways involving B4GALNT1 in the HSP26.

Original languageEnglish (US)
Pages (from-to)258-263
Number of pages6
JournalGene
Volume626
DOIs
StatePublished - Aug 30 2017

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Hereditary Spastic Paraplegia
(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase
Proteins
Glycosphingolipids
Protein Stability
N-Acetylneuraminic Acid
Missense Mutation
Post Translational Protein Processing
Protein Sorting Signals
Computer Simulation
Amino Acid Sequence
Mutation
Genes

Keywords

  • 3-D structure of B4galnt1
  • B4GALNT1
  • Bioinformatics tools
  • HSP26
  • Structural insights

ASJC Scopus subject areas

  • Genetics

Cite this

Structural annotation of Beta-1,4-N-acetyl galactosaminyltransferase 1 (B4GALNT1) causing Hereditary Spastic Paraplegia 26. / Dad, Rubina; Malik, Uzma; Javed, Aneela; Minassian, Berge A.; Hassan, Muhammad Jawad.

In: Gene, Vol. 626, 30.08.2017, p. 258-263.

Research output: Contribution to journalArticle

Dad, Rubina ; Malik, Uzma ; Javed, Aneela ; Minassian, Berge A. ; Hassan, Muhammad Jawad. / Structural annotation of Beta-1,4-N-acetyl galactosaminyltransferase 1 (B4GALNT1) causing Hereditary Spastic Paraplegia 26. In: Gene. 2017 ; Vol. 626. pp. 258-263.
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abstract = "Beta-1,4-N-acetyl galactosaminyltransferase 1, B4GALNT1, is a GM2/GD2 synthase, involved in the expression of glycosphingolipids (GSLs) containing sialic acid. Mutations in the gene B4GALNT1 cause Hereditary Spastic Paraplegia 26 (HSP26). In present study we have made attempt to predict the potential structural of the human B4GALNT1 protein. The results illustrated that the amino acid sequences of B4GALNT1 are not 100{\%} conserved among selected twenty species. One signal peptide and one transmembrane domain predicted in human wild type B4GALNT1 protein with aliphatic index of 92.76 and theoretical (iso-electric point) pI of 8.93. It was a kind of unstable protein with Grand average of hydropathicity (GRAVY) of − 0.127. Various post-translational modifications were also predicted to exist in B4GALNT1 and predicted to interact with different proteins including ST8SIA5, SLC33A1, GLB1 and others. In the final round, reported missense mutations have shown the further decrease in stability of the protein. This in-silico analysis of B4GALNT1 protein will provide the basis for the further studies on structural variations and biological pathways involving B4GALNT1 in the HSP26.",
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