Biomedical Engineering Reference
In-Depth Information
binding and peptide GPCRs. GA annotations related to this gene include tachykinin
receptor activity and substance P receptor (SPR) activity. An important paralogy of
this gene is GPR83.
More than half of the origin human genetic diseases are caused by amino acid
substitutions. So the present study is aimed at studying single nucleotide poly-
morphisms (SNP) in TACR1 gene that tells about of the gene and function of the
protein. Defects in TACR1 gene can cause telogen ef
uvium, liver, skin diseases,
and nervous pains. It is to identify SNPs which are deleterious for functioning of
TACR1 protein and causing above-speci
fl
ed diseases [
6
8
].
-
2 Dataset Description
A SNP is a DNA sequence which is in the form of a A, T, C, and G in the genome
(or other shared sequence), different members of a biological species, or paired
chromosomes.
SNP are within coding sequences of gene, noncoding regions of gene, or
intergenic regions (regions between genes). SNPs within a coding sequence do not
change the amino acid sequence of the protein that is produced, due to loss of the
origin genetic code.
SNPs in the coding region are of two types, synonymous and non-synonymous
SNPs. Synonymous SNPs do not affect the protein sequence, while non-synony-
mous SNPs change the amino acid sequence of protein. The non-synonymous SNPs
are of two types: (a) missense and (b) nonsense.
SNPs that are not available in coding regions also may still affect gene splicing,
transcription factor binding, messenger RNA (mRNA) degradation, or the sequence
of noncoding RNA. Gene expression affects the type of SNP is referred has an
expression SNP (eSNP) and may be upstream or downstream from the gene.
NK1 is the recent study of medications that possesses unique antidepressant,
anxiolytic, and antiemetic properties. The discovery of NK1 receptor antagonists
was a turning point in the prevention of the vomiting. The registered clinical use of
NK1 receptor antagonists was the treatment of emesis, associated with liver and
skin diseases.
The tachykinin receptor 1 (TACR1) also known as NK1 receptor (NK1R) or
SPR is a G protein-coupled receptor (GPCR) found in the CNS and peripheral
nervous system (PNS). The endogenous ligand for this receptor is substance P,
although it has some af
nity for other tachykinins. The protein is the product of the
TACR1 gene.
There are SNPs present in TACR1 gene (dbSNP database) [
9
]. There are in total
3,638 SNPs present in TACR1 genes. In this paper, we consider 20 of them which
are coding non-synonymous SNPs. SNPs are present in 3
′
′
UTR.
(SIFT tools using considered these followed to 2.17 % of total SNPs constitute non
coding synonymous SNPs. 2.33 % SNPs are present in 3
UTR region and 5
′
UTR region and 1.12 %
in 5
′
UTR region.)
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