Human Gene MUS81 (ENST00000308110.9) from GENCODE V44
Description: Homo sapiens MUS81 structure-specific endonuclease subunit (MUS81), transcript variant 3, non-coding RNA. (from RefSeq NR_146598) RefSeq Summary (NM_025128): This gene encodes a structure-specific endonuclease which belongs to the XPF/MUS81 endonuclease family and plays a critical role in the resolution of recombination intermediates during DNA repair after inter-strand cross-links, replication fork collapse, and DNA double-strand breaks. The encoded protein associates with one of two closely related essential meiotic endonuclease proteins (EME1 or EME2) to form a complex that processes DNA secondary structures. It contains an N-terminal DEAH helicase domain, an excision repair cross complementation group 4 (ERCC4) endonuclease domain, and two tandem C-terminal helix-hairpin-helix domains. Mice with a homozygous knockout of the orthologous gene have significant meiotic defects including the failure to repair a subset of DNA double strand breaks. [provided by RefSeq, Jun 2017]. Gencode Transcript: ENST00000308110.9 Gencode Gene: ENSG00000172732.12 Transcript (Including UTRs) Position: hg38 chr11:65,860,433-65,866,439 Size: 6,007 Total Exon Count: 16 Strand: + Coding Region Position: hg38 chr11:65,860,754-65,866,052 Size: 5,299 Coding Exon Count: 16
ID:MUS81_HUMAN DESCRIPTION: RecName: Full=Crossover junction endonuclease MUS81; EC=3.1.22.-; FUNCTION: Interacts with EME1 and EME2 to form a DNA structure- specific endonuclease with substrate preference for branched DNA structures with a 5'-end at the branch nick. Typical substrates include 3'-flap structures, replication forks and nicked Holliday junctions. May be required in mitosis for the processing of stalled or collapsed replication forks. COFACTOR: Magnesium. SUBUNIT: May self-associate. Interacts with EME1, EME2 and CHEK2. Interacts with BLM, and this interaction may stimulate the endonuclease activity of MUS81. Interacts with SLX4/BTBD12; this interaction is direct and links the MUS81-EME1 complex to SLX4, which may coordinate the action of the structure-specific endonuclease during DNA repair. Interacts with DCLRE1B/Apollo. INTERACTION: Q96AY2:EME1; NbExp=4; IntAct=EBI-2370806, EBI-2370825; Q8IY92:SLX4; NbExp=8; IntAct=EBI-2370806, EBI-2370740; SUBCELLULAR LOCATION: Nucleus, nucleolus. Note=Recruited to foci of DNA damage in S-phase cells. TISSUE SPECIFICITY: Widely expressed. DEVELOPMENTAL STAGE: Expressed in S phase and G2 phase. INDUCTION: Up-regulated in cells treated with agents that damage DNA or block replication. This up-regulation seems to be independent of transcription. SIMILARITY: Belongs to the XPF family. SIMILARITY: Contains 1 ERCC4 domain. SEQUENCE CAUTION: Sequence=BAB14953.1; Type=Erroneous initiation;
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 Q96NY9
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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.