Biology:RTP3 (gene)

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Short description: Protein-coding gene in the species Homo sapiens

RTP3 (receptor transporter protein 3) is a gene located on chromosome 3 in humans that encodes the RTP3 protein.[1] Its expression is liver-restricted.[2]

Gene

Aliases for RTP3 in Homo sapiens include LTM1, TMEM7, and Z3CXXC3.[1] It is located at locus 3p21.31 and contains two exons. It spans a total of 2,974 base pairs, between bases 46497976 and 46500950 on chromosome 3.[citation needed]

Protein

There is only one known protein isoform in humans, which is 232 amino acids long and has a predicted molecular weight of 26.9 kDa.[3] It has a predicted isoelectric point of 9.[4] The protein contains a transmembrane domain near the C-terminus. The protein is rich in cysteine and tryptophan and is poor in aspartic acid.[5]

Gene regulation

Regulation of the RTP3 gene appears to be tissue-specific, as it is expressed almost exclusively in the liver, with low levels of expression in the testes, thyroid, kidney, and adrenal gland.[1][6]

There are some poorly-conserved binding sites for miRNA molecules in the 3' untranslated region of the gene.[7] One of these is miRNA-29, which has been found to affect progression of liver tumors in mouse models.[8]

Homologs

Orthologs

Many animal species contain orthologs of the RTP3 gene, including various species of mammals, rodents, and birds.[9]

Paralogs

RTP3 has several paralogs in humans, including other members of the RTP family.[9]

Interacting proteins

While there is experimental evidence RTP3 may potentially be able to interact with proteins involved in olfactory signaling, as it contains shared homology with other members of the RTP family that do so, it is unlikely that it contributes greatly to olfactory signaling pathways due to its expression being almost exclusive to the liver.[10][11]

Clinical significance

The RTP3 gene has been found to be downregulated in liver carcinomas.[12] In cell lines that do not contain p53, a tumor suppressor protein, RTP3 has found to be more highly expressed than in cell lines that do contain the protein.[13]

Single-nucleotide polymorphisms in the promoter and intron of the RTP3 gene have been associated with increased risk of hip fracture, suggesting possible involvement of the gene in the TGF-β signaling pathway.[11]

References

  1. 1.0 1.1 1.2 "RTP3 receptor transporter protein 3 [Homo sapiens (human) - Gene - NCBI"]. https://www.ncbi.nlm.nih.gov/gene/?term=Homo+sapiens+RTP3. 
  2. "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Mol Cell Proteomics 13 (2): 397–406. February 2014. doi:10.1074/mcp.M113.035600. PMID 24309898. 
  3. "receptor-transporting protein 3 [Homo sapiens (human) - Protein - NCBI"]. https://www.ncbi.nlm.nih.gov/protein/NP_113628.1. 
  4. "ExPASy - Compute pI/Mw tool". https://web.expasy.org/compute_pi/. 
  5. "The EMBL-EBI search and sequence analysis tools APIs in 2019". Nucleic Acids Res 47 (W1): W636–W641. July 2019. doi:10.1093/nar/gkz268. PMID 30976793. 
  6. "Definition, conservation and epigenetics of housekeeping and tissue-enriched genes". BMC Genomics 10: 269. June 2009. doi:10.1186/1471-2164-10-269. PMID 19534766. 
  7. "Predicting effective microRNA target sites in mammalian mRNAs". eLife 4. August 2015. doi:10.7554/eLife.05005. PMID 26267216. 
  8. "Distinct anti-oncogenic effect of various microRNAs in different mouse models of liver cancer". Oncotarget 6 (9): 6977–88. March 2015. doi:10.18632/oncotarget.3166. PMID 25762642. 
  9. 9.0 9.1 "Ensembl 2020". Nucleic Acids Res 48 (D1): D682–D688. January 2020. doi:10.1093/nar/gkz966. PMID 31691826. 
  10. "Members of RTP and REEP gene families influence functional bitter taste receptor expression". J Biol Chem 281 (29): 20650–9. July 2006. doi:10.1074/jbc.M513637200. PMID 16720576. 
  11. 11.0 11.1 "Genome-wide association study for femoral neck bone geometry". J Bone Miner Res 25 (2): 320–9. February 2010. doi:10.1359/jbmr.090726. PMID 20175129. 
  12. "The interferon-alpha responsive gene TMEM7 suppresses cell proliferation and is downregulated in human hepatocellular carcinoma". Cancer Genet Cytogenet 177 (1): 6–15. August 2007. doi:10.1016/j.cancergencyto.2007.04.007. PMID 17693185. 
  13. "Definition of ubiquitination modulator COP1 as a novel therapeutic target in human hepatocellular carcinoma". Cancer Res 70 (21): 8264–9. November 2010. doi:10.1158/0008-5472.CAN-10-0749. PMID 20959491.