Human Gene MKRN1 (uc003vvu.4) Description and Page Index
Description: Homo sapiens makorin ring finger protein 1 (MKRN1), transcript variant 2, mRNA. RefSeq Summary (NM_001145125): This gene encodes a protein that belongs to a novel class of zinc finger proteins. The encoded protein functions as a transcriptional co-regulator, and as an E3 ubiquitin ligase that promotes the ubiquitination and proteasomal degradation of target proteins. The protein encoded by this gene is thought to regulate RNA polymerase II-catalyzed transcription. Substrates for this protein's E3 ubiquitin ligase activity include the capsid protein of the West Nile virus and the catalytic subunit of the telomerase ribonucleoprotein. This protein controls cell cycle arrest and apoptosis by regulating p21, a cell cycle regulator, and the tumor suppressor protein p53. Pseudogenes of this gene are present on chromosomes 1, 3, 9, 12 and 20, and on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]. Transcript (Including UTRs) Position: hg19 chr7:140,155,983-140,179,369 Size: 23,387 Total Exon Count: 7 Strand: - Coding Region Position: hg19 chr7:140,156,448-140,171,804 Size: 15,357 Coding Exon Count: 4
ID:MKRN1_HUMAN DESCRIPTION: RecName: Full=E3 ubiquitin-protein ligase makorin-1; EC=6.3.2.-; AltName: Full=RING finger protein 61; FUNCTION: E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. These substrates include FILIP1, p53/TP53, CDKN1A and TERT. Keeps cells alive by suppressing p53/TP53 under normal conditions, but stimulates apoptosis by repressing CDKN1A under stress conditions. Acts as a negative regulator of telomerase. Has negative and positive effects on RNA polymerase II-dependent transcription. PATHWAY: Protein modification; protein ubiquitination. SUBUNIT: Interacts with p53/TP53 and CDKN1A. Interacts with TERT, modulating telomere length homeostasis. TISSUE SPECIFICITY: Ubiquitous. INDUCTION: Frequently induced in esophageal squamous cell carcinoma (SCC) tissues. PTM: Auto-ubiquitinated; which leads to proteasomal degradation. SIMILARITY: Contains 4 C3H1-type zinc fingers. SIMILARITY: Contains 1 RING-type zinc finger.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): MKRN1 CDC HuGE Published Literature: MKRN1
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UHC7
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.