Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
OPA1 OPA1 mitochondrial dynamin like GTPase	NPG , NTG , MGM1 , BERHS , largeG , MTDPS14	Homo sapiens	34	protein-coding	DNM1L , MX2 , MX1 , DNM2 , DNM3 , DNM1	3.6.5.5	605290

Summary

The protein encoded by this gene is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. The encoded protein localizes to the inner mitochondrial membrane and helps regulate mitochondrial stability and energy output. This protein also sequesters cytochrome c. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. [provided by RefSeq, Aug 2017]

GeneOntology

Function (1)

Go ID	Value	Evidence
0005525	enables GTP binding	IEA

Component (20)

Go ID	Value	Evidence
1904115	located_in axon cytoplasm	IEA
0005737	is_active_in cytoplasm	IBA
0005829	located_in cytosol	IDA
0030425	located_in dendrite	ISS
0016020	located_in membrane	HDA
0005874	is_active_in microtubule	IBA
0030061	located_in mitochondrial crista	IDA
0005743	is_active_in mitochondrial inner membrane	IDA
0005743	located_in mitochondrial inner membrane	ISS
0005743	located_in mitochondrial inner membrane	NAS
0005743	located_in mitochondrial inner membrane	TAS
0005758	is_active_in mitochondrial intermembrane space	IBA
0005758	is_active_in mitochondrial intermembrane space	IDA
0005758	located_in mitochondrial intermembrane space	IDA
0005758	located_in mitochondrial intermembrane space	ISS
0031966	is_active_in mitochondrial membrane	IBA
0005741	located_in mitochondrial outer membrane	IDA
0005739	located_in mitochondrion	HTP
0005739	located_in mitochondrion	IDA
0005654	located_in nucleoplasm	IDA

Process (26)

Go ID	Value	Evidence
0046039	involved_in GTP metabolic process	IDA
0006915	involved_in apoptotic process	IEA
0019896	involved_in axonal transport of mitochondrion	TAS
0090398	involved_in cellular senescence	IDA
0042407	involved_in cristae formation	IDA
0042407	involved_in cristae formation	IMP
0007007	involved_in inner mitochondrial membrane organization	IDA
0061025	involved_in membrane fusion	IEA
0097749	involved_in membrane tubulation	IDA
0000266	involved_in mitochondrial fission	TAS
0008053	involved_in mitochondrial fusion	IBA
0008053	involved_in mitochondrial fusion	IDA
0008053	involved_in mitochondrial fusion	IMP
0008053	involved_in mitochondrial fusion	TAS
0000002	involved_in mitochondrial genome maintenance	IMP
1990627	involved_in mitochondrial inner membrane fusion	IDA
0007005	acts_upstream_of_or_within mitochondrion organization	IMP
0007005	involved_in mitochondrion organization	NAS
0043066	involved_in negative regulation of apoptotic process	IDA
1902236	involved_in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IGI
0090201	involved_in negative regulation of release of cytochrome c from mitochondria	IMP
0001843	involved_in neural tube closure	IEA
2000330	involved_in positive regulation of T-helper 17 cell lineage commitment	ISS
0032740	involved_in positive regulation of interleukin-17 production	ISS
0051259	involved_in protein complex oligomerization	IDA
0007601	involved_in visual perception	IMP

Gene Loss events - OPA1 (1 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_P3GLF8	Trichechus manatus	Sirenia	LOF (frameshift, premature stop, ss)	Full	No	10.1093/icb/icy004