Gene Symbol | OPA1 |
Entrez ID | 4976 |
Uniprot ID | O60313 |
Description | optic atrophy 1 (autosomal dominant) |
Chromosomal Location | chr3: 193,593,144-193,697,823 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0000002 |
mitochondrial genome maintenance |
The maintenance of the structure and integrity of the mitochondrial genome; includes replication and segregation of the mitochondrial chromosome. |
IMP |
BP |
GO:0000266 |
mitochondrial fission |
The division of a mitochondrion within a cell to form two or more separate mitochondrial compartments. |
TAS |
BP |
GO:0003374 |
dynamin family protein polymerization involved in mitochondrial fission |
The process of creating dynamin protein family polymers, compounds composed of a large number of dynamin family monomers around a lipid tube of a dividing mitochondrion. Dynamin polymers form around lipid tubes and contribute to membrane fission. |
IBA |
BP |
GO:0006915 |
apoptotic process |
A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
IEA |
BP |
GO:0007005 |
mitochondrion organization |
A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components. |
IMP|NAS |
BP |
GO:0007007 |
inner mitochondrial membrane organization |
A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the mitochondrial inner membrane. |
IDA |
BP |
GO:0007601 |
visual perception |
The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. |
IMP |
BP |
GO:0008053 |
mitochondrial fusion |
Merging of two or more mitochondria within a cell to form a single compartment. |
IDA|IMP|TAS |
BP |
GO:0010636 |
positive regulation of mitochondrial fusion |
Any process that increases the frequency, rate or extent of merging of two or more mitochondria within a cell to form a single compartment. |
IEA |
BP |
GO:0014042 |
positive regulation of neuron maturation |
Any process that activates or increases the frequency, rate or extent of neuron maturation. |
IEA |
BP |
GO:0019896 |
axonal transport of mitochondrion |
The directed movement of mitochondria along microtubules in nerve cell axons. |
TAS |
BP |
GO:0090201 |
negative regulation of release of cytochrome c from mitochondria |
Any process that decreases the rate, frequency or extent of release of cytochrome c from mitochondria, the process in which cytochrome c is enabled to move from the mitochondrial intermembrane space into the cytosol, which is an early step in apoptosis and leads to caspase activation. |
IMP |
BP |
GO:0090398 |
cellular senescence |
A cell aging process stimulated in response to cellular stress, whereby normal cells lose the ability to divide through irreversible cell cycle arrest. |
IDA |
BP |
GO:1900006 |
positive regulation of dendrite development |
Any process that activates or increases the frequency, rate or extent of dendrite development. |
IEA |
BP |
GO:1902236 |
negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway |
Any process that stops, prevents or reduces the frequency, rate or extent of an endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway. |
IGI |
CC |
GO:0005654 |
nucleoplasm |
That part of the nuclear content other than the chromosomes or the nucleolus. |
IDA |
CC |
GO:0005737 |
cytoplasm |
All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
IDA |
CC |
GO:0005739 |
mitochondrion |
A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
IDA |
CC |
GO:0005741 |
mitochondrial outer membrane |
The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope. |
IDA |
CC |
GO:0005743 |
mitochondrial inner membrane |
The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
ISS|NAS |
CC |
GO:0005758 |
mitochondrial intermembrane space |
The region between the inner and outer lipid bilayers of the mitochondrial envelope. |
IDA|ISS |
CC |
GO:0016020 |
membrane |
A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
IDA |
CC |
GO:0016021 |
integral component of membrane |
The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
IEA |
CC |
GO:0030061 |
mitochondrial crista |
Any of the inward folds of the mitochondrial inner membrane. Their number, extent, and shape differ in mitochondria from different tissues and organisms. They appear to be devices for increasing the surface area of the mitochondrial inner membrane, where the enzymes of electron transport and oxidative phosphorylation are found. Their shape can vary with the respiratory state of the mitochondria. |
IDA |
CC |
GO:0030425 |
dendrite |
A neuron projection that has a short, tapering, often branched, morphology, receives and integrates signals from other neurons or from sensory stimuli, and conducts a nerve impulse towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
ISS |
CC |
GO:0031314 |
extrinsic component of mitochondrial inner membrane |
The component of mitochondrial inner membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
IEA |
CC |
GO:1904115 |
axon cytoplasm |
Any cytoplasm that is part of a axon. |
IEA |
MF |
GO:0000287 |
magnesium ion binding |
Interacting selectively and non-covalently with magnesium (Mg) ions. |
NAS |
MF |
GO:0003924 |
GTPase activity |
Catalysis of the reaction: GTP + H2O = GDP + phosphate. |
TAS |
MF |
GO:0005515 |
protein binding |
Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). |
IPI |
MF |
GO:0005525 |
GTP binding |
Interacting selectively and non-covalently with GTP, guanosine triphosphate. |
IEA |
MF |
GO:0008017 |
microtubule binding |
Interacting selectively and non-covalently with microtubules, filaments composed of tubulin monomers. |
IBA |
Domain ID | Description |
---|---|
IPR001401 |
Dynamin, GTPase domain |
IPR022812 |
Dynamin superfamily |
IPR027417 |
P-loop containing nucleoside triphosphate hydrolase |
IPR030381 |
Dynamin-type guanine nucleotide-binding (G) domain |
IPR033047 |
Dynamin-like 120 kDa protein, mitochondrial |
UMLS CUI | UMLS Term |
---|---|
C0029408 |
Degenerative Polyarthritis |
C0338508 |
Optic Atrophy, Autosomal Dominant |
Tissue | Cell Type |
---|---|
appendix |
glandular cells |
duodenum |
glandular cells |
heart muscle |
myocytes |
kidney |
cells in tubules |
ovary |
follicle cells |
parathyroid gland |
glandular cells |
small intestine |
glandular cells |
stomach |
glandular cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
22951915 |
Haozi et al. |
2012 |
Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
KAT2B |
8850 |
Q92831 |
0.52 |
APLP2 |
334 |
Q06481 |
0.63 |
ASPH |
444 |
Q12797 |
0.63 |
BCL2L1 |
598 |
Q07817 |
0.63 |
KPNA3 |
3840 |
O00505 |
0.63 |
LMNA |
4000 |
P02545 |
0.63 |
NEFM |
4741 |
P07197 |
0.63 |
SREBF2 |
6721 |
Q12772 |
0.63 |
SSFA2 |
6744 |
P28290 |
0.63 |
CNTN2 |
6900 |
Q02246 |
0.63 |
ICAM5 |
7087 |
Q9UMF0 |
0.63 |
HGS |
9146 |
O14964 |
0.63 |
IL32 |
9235 |
P24001 |
0.63 |
NCOR1 |
9611 |
O75376 |
0.63 |
NUP58 |
9818 |
Q9BVL2 |
0.63 |
TOX4 |
9878 |
O94842 |
0.63 |
PIBF1 |
10464 |
Q8WXW3 |
0.63 |
TAB2 |
23118 |
Q9NYJ8 |
0.63 |
DAAM2 |
23500 |
Q86T65 |
0.63 |
PACSIN1 |
29993 |
Q9BY11 |
0.63 |
EXOC4 |
60412 |
Q96A65 |
0.63 |
ZNF655 |
79027 |
Q8N720 |
0.63 |
LRRK2 |
120892 |
Q5S007 |
0.65 |
APP |
351 |
P05067 |
0.66 |
SIRT3 |
23410 |
Q9NTG7 |
0.68 |
BNIP3 |
664 |
Q12983 |
0.78 |
DNASE2 |
1777 |
O00115 |
0.49 |
ECH1 |
1891 |
Q13011 |
0.49 |
EEF2 |
1938 |
P13639 |
0.49 |
HADHB |
3032 |
P55084 |
0.49 |
ILF3 |
3609 |
Q12906 |
0.49 |
NDUFA9 |
4704 |
Q16795 |
0.49 |
NDUFS1 |
4719 |
P28331 |
0.49 |
NDUFS8 |
4728 |
O00217 |
0.49 |
NPTX1 |
4884 |
Q15818 |
0.49 |
NR4A2 |
4929 |
P43354 |
0.49 |
EHD1 |
10938 |
Q9H4M9 |
0.49 |
HTRA2 |
27429 |
O43464 |
0.49 |
ARHGAP17 |
55114 |
Q68EM7 |
0.49 |
NIT2 |
56954 |
Q9NQR4 |
0.49 |
HSP90AA5P |
730211 |
Q58FG0 |
0.49 |
ADD1 |
118 |
P35611 |
0.63 |
EGFR |
1956 |
P00533 |
0.63 |
ELAVL1 |
1994 |
Q15717 |
0.63 |
ESR1 |
2099 |
P03372 |
0.63 |
IL13RA1 |
3597 |
P78552 |
0.63 |
MCM2 |
4171 |
P49736 |
0.63 |
NTRK1 |
4914 |
P04629 |
0.63 |
PARK2 |
5071 |
O60260 |
0.63 |
SCN2B |
6327 |
O60939 |
0.63 |
CUL3 |
8452 |
Q13618 |
0.63 |
SCGN |
10590 |
O76038 |
0.63 |
SPAG5 |
10615 |
Q96R06 |
0.63 |
PRDX3 |
10935 |
P30048 |
0.63 |
PTP4A3 |
11156 |
O75365 |
0.63 |
CAND1 |
55832 |
Q86VP6 |
0.63 |
CTNNBIP1 |
56998 |
Q9NSA3 |
0.63 |
UTP3 |
57050 |
Q9NQZ2 |
0.63 |
UNK |
85451 |
Q9C0B0 |
0.63 |
SMAD2 |
4087 |
Q15796 |
0.72 |
SMAD3 |
4088 |
P84022 |
0.72 |
MME |
4311 |
P08473 |
0.72 |
XRCC3 |
7517 |
O43542 |
0.72 |
MYC |
4609 |
P01106 |
0.86 |