Jump to content

User:Yee cassandra/sandbox

From Wikipedia, the free encyclopedia
Tex36 on the long arm of chromosome 10, located at q26.13

TEX36

[edit]

TEX36, testes expressed 36, is a protein that in humans is encoded by the tex36 gene. The encoded protein is highly expressed in fetal and placental tissue suggesting that it is involved in development.

Gene

[edit]

Locus

Common Aliases

Size of gene, number of exons (not mRNA)

Testes expressed 36, also known as C10orf122 or BA383C5.1 is a protein encoding gene.[1] This protein has yet to have a known function. The verified gene sequence was confirmed in NCBI on November 26, 2016. It has cytogenetic bands at 10q26.13. TEX36 is also a member of the Human CCDS set CCDS44493.1.[2]

The protein is encoded by 4 exons.  There are two variants of testes expressed sequence 36 protein, 1 and 2.  Variants 1 and 2 both contain 4 exons, but isoform 1 has the longer transcript with an alternately spliced 4 exons, than variant 2 consists of 129 amino acids, with a different terminating region.

mRNA

[edit]

isoforms/alt splicing (from NCBI gene)

Protein

[edit]
Shows post-translational modifications of TEX36 including phosphorylation sites represented by red flags and green lines, amidation sites where there are brackets, pat4 residues with grey flags, the MAPK interacting motif, and HDNR motif.

Primary sequence & variants/isoforms

molecular weights, pI, compositional features

domains and motifs

secondary structure

tertiary and quaternary structure

post-translational modifications

subcellular localization

The protein coded by TEX36, commonly referred to as testes expressed sequence 36 protein, has a mass of 21,545 Da and is composed of 186 amino acids.[1]  The protein interacts with PPP1CC, protein phosphatase 1 catalytic subunit, gamma isozyme based on a Two Hybrid screen, and IRF3, interferon regulatory factor 3 based on an Affinity capture-MS.[3]

Expression

[edit]

DNA to variety of mRAN variants, variety of protein isoforms

Tissue expression pattern (NCBI GEO data)

Expression level

Regulation of Expression

[edit]

epigenetic

transcription -- promoter, TF that might bind to regulatory sequence

Post-transcription -- transcript variants (alt. splicing regulation)

Translational and mRNA stability -- stem loops in mRNA near AUG, stem loops in 3'UTR, miRNA targets

Protein level - ubiquitination, glycation

Function

[edit]

Interacting Proteins

[edit]

Proteins found in Y2H screens, developmental; functional; FULL names

Clinical Significance

[edit]

Pathology

Disease Association

Variants

TEX36 is one of 77 proteins expressed by testes capable of interacting with PP1, human testis protein protein phosphatase 1.[4] One variant of TEX36, p.R142H, was found across all patients in a study on intracranial aneurysms.  However, there was no further research on the gene and its protein function.[5] TEX36 has also been found to be a commonly downregulated gene in patients with microalbuminuria compared to those with normoalbuminuria.[6]  Because of the variant associated with intracranial aneurysms and its downregulation associated with various albumin levels, protein changes in TEX36 either in variants or expression levels could be deleterious, but there is no confirmation on these assumptions.[7]

Unrooted phylogenetic tree based on alignment data of TEX36 protein, including 20 orthologs of the protein

Homology

[edit]

Paralogs

Ortholog Space

[edit]

There are many species that have an ortholog of TEX36, these include: mammals, birds, reptiles, amphibians, fish, echinoids, anthozoans, and mollusks. There are no confirmed orthologs in bacteria, fungi/metazoans, plants, or archaea.

Distant homologs

[edit]

Homologous domains

Phylogeny

Citations

[edit]
  1. ^ a b GeneCards, Human Gene Database, entry on TEX36, [http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEX36]
  2. ^ Ensembl entry on Gene: TEX36, [http://useast.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000175018;r=10:125576522-125683144]
  3. ^ BioGRID3.4 Result Summary on TEX36, [https://thebiogrid.org/132412]
  4. ^ Fardilha, M., Esteves, S. L., Korrodi-Gregório, L., Vintém, A. P., Domingues, S. C., Rebelo, S., ... & e Silva, E. F. D. C. (2011). Identification of the human testis protein phosphatase 1 interactome. Biochemical pharmacology82(10), 1403-1415.
  5. ^ Yan, J., Hitomi, T., Takenaka, K., Kato, M., Kobayashi, H., Okuda, H., ... & Koizumi, A. (2015). Genetic study of intracranial aneurysms. Stroke, STROKEAHA-114.
  6. ^ Lokman, F. E., Seman, N. A., al-Safi Ismail, A., Azwany Yaacob, N., Mustafa, N., Khir, A. S., ... & Wan Mohamud, W. N. (2011). Gene expression profiling in ethnic Malays with type 2 diabetes mellitus, with and without diabetic nephropathy. Journal of nephrology24(6), 778.
  7. ^ Hitchcock, E., & Gibson, W. T. (2016). A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling. Journal of Genetic Counseling, 1-11.