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- Table of Contents
17 Q&As
16 Q&As
Facts about Dynamin-like 120 kDa protein, mitochondrial.
Binds lipid membranes enriched in negatively charged phospholipids, such as cardiolipin, and promotes membrane tubulation (PubMed:20185555). The intrinsic GTPase activity is reduced, and is strongly increased by interaction with lipid membranes (PubMed:20185555).
Human | |
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Gene Name: | OPA1 |
Uniprot: | O60313 |
Entrez: | 4976 |
Belongs to: |
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TRAFAC class dynamin-like GTPase superfamily |
BERHS; EC 3.6.5.5; FLJ12460; KIAA0567dynamin-like 120 kDa protein, mitochondrial; LargeG; lilr3; MGM1; mitochondrial dynamin-like GTPase; MTDPS14; NPG; NPGlargeG; NTG; NTGmitochondrial dynamin-like 120 kDa protein; OPA1; optic atrophy 1 (autosomal dominant); Optic atrophy protein 1
Mass (kDA):
111.631 kDA
Human | |
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Location: | 3q29 |
Sequence: | 3; NC_000003.12 (193593144..193697811) |
Highly expressed in retina. Also expressed in brain, testis, heart and skeletal muscle. Isoform 1 expressed in retina, skeletal muscle, heart, lung, ovary, colon, thyroid gland, leukocytes and fetal brain. Isoform 2 expressed in colon, liver, kidney, thyroid gland and leukocytes. Low levels of all isoforms expressed in a variety of tissues.
Mitochondrion inner membrane; Single-pass membrane protein. Mitochondrion intermembrane space. Mitochondrion membrane. Detected at contact sites between endoplamic reticulum and mitochondrion membranes.
PMID: 20843780 by Wang W., et al. Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
PMID: 11810270 by Delettre C., et al. Mutation spectrum and splicing variants in the OPA1 gene.