TMEM239

Last updated
TMEM239
Identifiers
Aliases TMEM239 , transmembrane protein 239
External IDs MGI: 1914016; HomoloGene: 122214; GeneCards: TMEM239; OMA:TMEM239 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001167670
NM_001318207

NM_025753

RefSeq (protein)

NP_001161142
NP_001305136

NP_080029

Location (UCSC) Chr 20: 2.82 – 2.82 Mb Chr 2: 130.25 – 130.25 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Within mammalia, TMEM239 orthologs are found in organisms belonging to eutheria and metatheria, but not prototheria. No human paralogs for TMEM239 have been identified.

Contents

Expression

Based on human expressed sequence tag (EST) profiles, TMEM239 appears to be expressed in the testis and the brain. [5] According to PaxDb, the abundance of TMEM239 falls within the bottom 10% relative to all other proteins in both mice and humans. [6] Overall, expression of TMEM239 is limited. TMEM239 appears to be expressed at moderate levels in the testes, with low expression in a variety of other tissues, including the brain and submaxillary gland.

Interactions

TMEM239 protein interactions appear to be implicated in cell signaling, membrane transport and immunology. Human T-cell leukemia virus type-1 Protein TAX-1 (TAX) and Beta-2-microglobulin (B2M) were found to interact with TMEM239 through a host-pathogen yeast two hybrid screen. [7]

Additional TMEM239 protein interactions were identified through a human interactome mapping project. Synthenein-1 (SDCBP) is involved in the trafficking of transmembrane proteins, in addition to neuro and immunomodulation, exosome biogenesis and tumorigenesis. [8] SDCBP is regulated by TGFB1-mediated SMAD2/3. A number of other cell signaling proteins physically associated with TMEM239, including Cyclic AMP-dependent transcription factor (ATF-7), FYVE, RhoGEF and PH domain-containing protein 2 (FGD2) and Syndecan binding protein (SDCBP).

The Golgi SNAP receptor complex member 1 (GOS1) was found to associate with TMEM239. [9] A member of the super-family of proteins called t-SNAREs, GOS1 mediates transport from the ER to the Golgi apparatus. [10] Lastly, the protein Alpha-N-methyltransferease (TAE1) was found to interact with TMEM239. TAE1 catalyzes the methylation of alpha-amino groups of Alanine or Serine residues in [Ala/Ser]-Pro-Lys motifs and Pro-Pro-Lys motifs. TAE1 is also responsible for methylating a number of ribosomal proteins. [11]

Clinical significance

SNP rs7360412, located in the 3’UTR of TMEM239, was identified in a genome-wide association study of quantitative phenotypes for bipolar disorder as a top marker for fractional anisotropy. [12] In this context, fractional anisotropy, as detected by diffusion tensor imaging, was used to assess white matter integrity. White matter integrity is highly heritable and reduced in both bipolar patients and their unaffected relatives.

RNA-seq was used to analyze the transcriptomes of human and Leishmania primary cutaneous lesions, in order to understand differences in host and parasitic factors influencing the progression of Localized Cutaneous Leishmaniasis (LCL) to Mucosal Leishmaniasis (ML). [13] Decreased expression of TMEM239 in a primary cutaneous lesions indicates a higher probability of ML development.

Related Research Articles

<span class="mw-page-title-main">Interactome</span> Complete set of molecular interactions in a biological cell

In molecular biology, an interactome is the whole set of molecular interactions in a particular cell. The term specifically refers to physical interactions among molecules but can also describe sets of indirect interactions among genes.

<span class="mw-page-title-main">Cutaneous leishmaniasis</span> Medical condition

Cutaneous leishmaniasis is the most common form of leishmaniasis affecting humans. It is a skin infection caused by a single-celled parasite that is transmitted by the bite of a phlebotomine sand fly. There are about thirty species of Leishmania that may cause cutaneous leishmaniasis.

<span class="mw-page-title-main">Separase</span> Mammalian protein found in Homo sapiens

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<i>Leishmania infantum</i> Species of parasitic protist

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<span class="mw-page-title-main">RAD23A</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">COPB2</span> Protein-coding gene in humans

Coatomer subunit beta is a protein that is encoded by the COPB2 gene in humans.

<span class="mw-page-title-main">EIF3C</span> Protein-coding gene in the species Homo sapiens

Eukaryotic translation initiation factor 3 subunit C (eIF3c) is a protein that in humans is encoded by the EIF3C gene.

<span class="mw-page-title-main">POLR1D</span> Protein-coding gene in the species Homo sapiens

DNA-directed RNA polymerases I and III subunit RPAC2 is a protein that in humans is encoded by the POLR1D gene.

<span class="mw-page-title-main">DCC1</span> Protein-coding gene in the species Homo sapiens

Sister chromatid cohesion protein DCC1 is a protein that in humans is encoded by the DSCC1 gene.

<span class="mw-page-title-main">CDC45-related protein</span> Protein-coding gene in the species Homo sapiens

CDC45 is a protein that in humans is encoded by the CDC45L gene.

<span class="mw-page-title-main">Oxysterol-binding protein</span>

The oxysterol-binding protein (OSBP)-related proteins (ORPs) are a family of lipid transfer proteins (LTPs). Concretely, they constitute a family of sterol and phosphoinositide binding and transfer proteins in eukaryotes that are conserved from yeast to humans. They are lipid-binding proteins implicated in many cellular processes related with oxysterol, including signaling, vesicular trafficking, lipid metabolism, and nonvesicular sterol transport.

<span class="mw-page-title-main">MSH4</span> Protein-coding gene in the species Homo sapiens

MutS protein homolog 4 is a protein that in humans is encoded by the MSH4 gene.

<span class="mw-page-title-main">Sirtuin 3</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">STK24</span> Protein-coding gene in the species Homo sapiens

Serine/threonine-protein kinase 24 is an enzyme that in humans is encoded by the STK24 gene located in the chromosome 13, band q32.2. It is also known as Mammalian STE20-like protein kinase 3 (MST-3). The protein is 443 amino acids long and its mass is 49 kDa.

<span class="mw-page-title-main">GCC1</span> Protein-coding gene in the species Homo sapiens

GRIP and coiled-coil domain-containing protein 1 is a protein that in humans is encoded by the GCC1 gene.

<span class="mw-page-title-main">KIAA0515</span> Protein-coding gene in the species Homo sapiens

Protein BAT2-like is a protein that in humans is encoded by the BAT2L gene.

<span class="mw-page-title-main">SEC24C</span> Protein-coding gene in the species Homo sapiens

Protein transport protein Sec24C is a protein that in humans is encoded by the SEC24C gene.

<span class="mw-page-title-main">FCHSD2</span> Protein-coding gene in the species Homo sapiens

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<i>Leishmania tropica</i> Species of protozoan parasite

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Set1 is a gene that codes for Histone-lysine N-methyltransferase and H3 lysine-4 specific proteins (H3K). Set1 proteins can also be referred to as COMPASS proteins. The first H3K4 methylase, Saccharomyces cerevisiae Set1/COMPASS, is highly conserved across a multitude of phylogenies. The histone methylation facilitated by Set1 is required for cell growth and transcription silencing through the repression of RNA polymerase II. The Set1C, COMPASS Complex, also aids in transcription elongation regulation and the maintenance of telomere length.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000198326 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000049692 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Transmembrane protein 239 (TMEM239)". www.ncbi.nlm.nih.gov. Retrieved 2016-02-27.
  6. "PaxDb". pax-db.org. Retrieved 2016-04-25.
  7. Simonis N, Rual JF, Lemmens I, Boxus M, Hirozane-Kishikawa T, Gatot JS, Dricot A, Hao T, Vertommen D, Legros S, Daakour S, Klitgord N, Martin M, Willaert JF, Dequiedt F, Navratil V, Cusick ME, Burny A, Van Lint C, Hill DE, Tavernier J, Kettmann R, Vidal M, Twizere JC (2012-03-29). "Host-pathogen interactome mapping for HTLV-1 and -2 retroviruses". Retrovirology. 9 (1): 26. doi: 10.1186/1742-4690-9-26 . PMC   3351729 . PMID   22458338.
  8. "SDCBP - Syntenin-1 - Homo sapiens (Human) - SDCBP gene & protein". www.uniprot.org. Retrieved 2016-04-25.
  9. Zhong Q, Pevzner SJ, Hao T, Wang Y, Mosca R, Menche J, Taipale M, Taşan M, Fan C, Yang X, Haley P, Murray RR, Mer F, Gebreab F, Tam S, MacWilliams A, Dricot A, Reichert P, Santhanam B, Ghamsari L, Calderwood MA, Rolland T, Charloteaux B, Lindquist S, Barabási AL, Hill DE, Aloy P, Cusick ME, Xia Y, Roth FP, Vidal M (2016-04-01). "An inter-species protein-protein interaction network across vast evolutionary distance". Molecular Systems Biology. 12 (4): 865. doi:10.15252/msb.20156484. PMC   4848758 . PMID   27107014.
  10. "GOS1 - Golgi SNAP receptor complex member 1 - Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) - GOS1 gene & protein". www.uniprot.org. Retrieved 2016-04-25.
  11. "TAE1 - Alpha N-terminal protein methyltransferase 1 - Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) - TAE1 gene & protein". www.uniprot.org. Retrieved 2016-04-25.
  12. Sprooten E, Fleming KM, Thomson PA, Bastin ME, Whalley HC, Hall J, Sussmann JE, McKirdy J, Blackwood D, Lawrie SM, McIntosh AM (April 2013). "White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder". Psychiatry Research. 206 (2–3): 223–31. doi:10.1016/j.psychres.2012.11.002. PMID   23218918. S2CID   22967553.
  13. Maretti-Mira AC, Bittner J, Oliveira-Neto MP, Liu M, Kang D, Li H, Pirmez C, Craft N (2012-09-13). "Transcriptome patterns from primary cutaneous Leishmania braziliensis infections associate with eventual development of mucosal disease in humans". PLOS Neglected Tropical Diseases. 6 (9): e1816. doi: 10.1371/journal.pntd.0001816 . PMC   3441406 . PMID   23029578.