Human Gene MARCH5 (uc001khx.1) Description and Page Index
Description: Homo sapiens membrane-associated ring finger (C3HC4) 5 (MARCH5), mRNA. RefSeq Summary (NM_017824): MARCH5 is a ubiquitin ligase of the mitochondrial outer membrane that plays a role in the control of mitochondrial morphology by regulating mitofusin-2 (MFN2; MIM 608507) and DRP1 (DNM1L; MIM 603850) (Nakamura et al., 2006 [PubMed 16936636]).[supplied by OMIM, Mar 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803616.250655.1, SRR1803617.146891.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000358935.3/ ENSP00000351813.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr10:94,050,920-94,113,721 Size: 62,802 Total Exon Count: 6 Strand: + Coding Region Position: hg19 chr10:94,051,252-94,110,964 Size: 59,713 Coding Exon Count: 6
ID:MARH5_HUMAN DESCRIPTION: RecName: Full=E3 ubiquitin-protein ligase MARCH5; EC=6.3.2.-; AltName: Full=Membrane-associated RING finger protein 5; AltName: Full=Membrane-associated RING-CH protein V; Short=MARCH-V; AltName: Full=Mitochondrial ubiquitin ligase; Short=MITOL; AltName: Full=RING finger protein 153; FUNCTION: Mitochondrial E3 ubiquitin-protein ligase that plays a crucial role in the control of mitochondrial morphology by acting as a positive regulator of mitochondrial fission. May play a role in the prevention of cell senescence acting as a regulator of mitochondrial quality control. Promotes ubiquitination of FIS1, DNM1L and MFN1. PATHWAY: Protein modification; protein ubiquitination. SUBUNIT: Monomer and homodimer. Interacts with MFN1, MFN2, DNM1L and FIS1. SUBCELLULAR LOCATION: Mitochondrion outer membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane. Note=Authors show that the protein can be detected in endoplasmic reticulum (PubMed:14722266). Authors (PubMed:16874301) show its presence only in mitochondria (PubMed:16874301). TISSUE SPECIFICITY: Expressed in brain, heart, liver, lung, spleen, stomach, testis, skeletal and muscle. DOMAIN: The RING-CH-type zinc finger domain is required for E3 ligase activity (By similarity). PTM: Autoubiquitinated leading to degradation (short half-life). MISCELLANEOUS: By binding to and ubiquitinating two ALS1 variants of SOD1 (mSOD1 variants Arg-86 and Ala-94) it attenuates their cytotoxicity. SIMILARITY: Contains 1 RING-CH-type zinc finger.
Genetic Association Studies of Complex Diseases and Disorders
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 Q9NX47
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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.