Protein Description

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

No pathways found.

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

No databases found.

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