DEPDC7
| DEPDC7 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | DEPDC7, TR2, dJ85M6.4, DEP domain containing 7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 612294; MGI: 2139258; GeneCards: DEPDC7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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DEP Domain Containing Protein 7 (DEPDC7) is a protein of unknown function located on chromosome 11 bases 33,015,863-33,033,581.[5] The cytogenetic location is 11p13.[5] DEPDC7 has several aliases: DEP Domain Containing 7, DJ85M6.4, Novel 58.3 KDA Protein, Protein TR2/D15, and TR2.[6] The DEPDC7 gene is 17,718 base pairs long and has 8 exons and 9 introns.[7] The gene is capable of making 6 different mRNA transcripts.[7] Two functional domains can be found within this gene's sequence: DEP (Dishevelled, Egl-10, and Pleckstrin) domain and RhoGAP domain.[8]
Gene
[edit]Transcription produces 4 alternatively spliced variants and 2 unspliced forms.[7] Isoform 1 is the longest of all the variants containing all 8 exons.[8] It codes for 511 amino acids.[8] Northern blot analysis detected that the DEPDC7 transcript in humans was expressed highly in the liver and moderately expressed in the kidney.[5] Hypomethylation of one of the DEPDC7 introns was related to the appearance of depression symptoms.[9]
Structure
[edit]
The protein is 511 amino acids long and has a molecular weight of 58310.[10]
DEP domain is named after the 3 proteins it was initially found in: Dishevelled, Egl-10, and Pleckstrin.[7] Dishevelled plays a key role in the transduction of the Wg/Wnt signal.[7] This signal goes from the cell surface to the nucleus.[7] Dishevelled is a segment polarity protein needed to make coherent arrays of polarized cells and segments in embryos.[7] It also plays a role in wingless signaling. Egl-10 regulates G-protein signaling in the central nervous system.[7] Pleckstrin has 2 PH domains flanking the DEP domain and is the major substrate of protein kinase C in platelets.[7] The DEP domain within DEPDC7 was found to bind with CARMA2 and CARMA3 proteins.[11]
Clinical significance
[edit]DEPDC7 could have a role in tumor suppression. Overexpression inhibits the proliferation of hepatoma cells blocks the cell cycle transition from the G0/G1 to S phase, and inhibits the migration and invasion of hematoma cells.[12] DEPDC7 could potentially regulate neural development and physiology and could participate in epigenetic processes of striatal neurons.[13] Genomic rearrangement within 11p12 and 11p14 were associated with WAGR syndrome.[14]
Paralogs
[edit]DEPDC7 has a paralog: DEPDC1B, a protein coding gene.
References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000121690 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027173 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- 1 2 3 "OMIM Entry - * 612294 - DEP Domain-Containing Protein 7; DEPDC7". www.omim.org. Retrieved 2019-02-11.
- ↑ "DEPDC7 gene DEP Domain Containing 7". www.genecards.org. Retrieved 2019-02-11.
- 1 2 3 4 5 6 7 8 9 Thierry-Mieg D, Thierry-Mieg J. "AceView: gene:DEPDC7, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView". www.ncbi.nlm.nih.gov. Retrieved 2019-02-11.
- 1 2 3 "Homo sapiens DEP domain containing 7 (DEPDC7), transcript variant 1, mRNA". 2018-11-22.
- ↑ Córdova-Palomera A, Fatjó-Vilas M, Palma-Gudiel H, Blasco-Fontecilla H, Kebir O, Fañanás L (September 2015). "Further evidence of DEPDC7 DNA hypomethylation in depression: A study in adult twins". European Psychiatry. 30 (6): 715–718. doi:10.1016/j.eurpsy.2015.04.001. PMID 25952135. S2CID 33225192.
- ↑ "The European Bioinformatics Institute < EMBL-EBI". www.ebi.ac.uk. European Bioinformatics Institute. 1998-05-01. Retrieved 2019-02-11.
- ↑ D'Andrea EL, Ferravante A, Scudiero I, Zotti T, Reale C, Pizzulo M, et al. (2014). "The Dishevelled, EGL-10 and pleckstrin (DEP) domain-containing protein DEPDC7 binds to CARMA2 and CARMA3 proteins, and regulates NF-κB activation". PLOS ONE. 9 (12) e116062. Bibcode:2014PLoSO...9k6062D. doi:10.1371/journal.pone.0116062. PMC 4277425. PMID 25541973.
- ↑ Liao Z, Wang X, Wang X, Li L, Lin D (December 2017). "DEPDC7 inhibits cell proliferation, migration and invasion in hepatoma cells". Oncology Letters. 14 (6): 7332–7338. doi:10.3892/ol.2017.7128. PMC 5755016. PMID 29344171.
- ↑ Liao Z, Wang X, Lin D, Zou Q (September 2017). "Construction and Identification of the RNAi Recombinant Lentiviral Vector Targeting Human DEPDC7 Gene". Interdisciplinary Sciences, Computational Life Sciences. 9 (3): 350–356. doi:10.1007/s12539-016-0162-y. PMID 27016254. S2CID 7150784.
- ↑ Seabra CM, Quental S, Neto AP, Carvalho F, Gonçalves J, Oliveira JP, et al. (September 2014). "A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia". Reproductive Biomedicine Online. 29 (3): 388–391. doi:10.1016/j.rbmo.2014.04.017. PMID 24912414.