OPA1 (OPA1 mitochondrial dynamin like GTPase)

2012-02-01  

Identity

HGNC
OPA1
LOCATION
3q29
LOCUSID
4976
ALIAS
BERHS,MGM1,MTDPS14,NPG,NTG,largeG
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4976
MIM: 605290
HGNC: 8140
Ensembl: ENSG00000198836

Variants:

dbSNP: 4976
ClinVar: 4976
TCGA: ENSG00000198836
COSMIC: OPA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198836ENST00000361150O60313
ENSG00000198836ENST00000361510O60313
ENSG00000198836ENST00000361715E5KLJ9
ENSG00000198836ENST00000361828O60313
ENSG00000198836ENST00000361908O60313
ENSG00000198836ENST00000392436C9JMB8
ENSG00000198836ENST00000392437O60313
ENSG00000198836ENST00000419435C9JY58
ENSG00000198836ENST00000429164H7C3G2
ENSG00000198836ENST00000434811H7C321
ENSG00000198836ENST00000445863H7C141
ENSG00000198836ENST00000642289A0A2R8Y5E2
ENSG00000198836ENST00000642445C9JMB8
ENSG00000198836ENST00000642593A0A2R8YD53
ENSG00000198836ENST00000643329A0A2R8Y3X5
ENSG00000198836ENST00000643737A0A2R8Y514
ENSG00000198836ENST00000644595A0A2R8YE78
ENSG00000198836ENST00000644629A0A2R8Y4G4
ENSG00000198836ENST00000644841A0A2R8Y4Q3
ENSG00000198836ENST00000644959A0A2R8YGE5
ENSG00000198836ENST00000645553A0A2R8YDM2
ENSG00000198836ENST00000646085A0A2R8Y5G3
ENSG00000198836ENST00000646277A0A2R8YE54
ENSG00000198836ENST00000646544A0A2R8YFD1
ENSG00000198836ENST00000646699A0A2R8Y5E2
ENSG00000198836ENST00000646793O60313

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Programmed Cell DeathREACTOMER-HSA-5357801
ApoptosisREACTOMER-HSA-109581
Regulation of ApoptosisREACTOMER-HSA-169911

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
153562672004Roles of the mammalian mitochondrial fission and fusion mediators Fis1, Drp1, and Opa1 in apoptosis.334
125094222003Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis.318
177094292007OPA1 processing controls mitochondrial fusion and is regulated by mRNA splicing, membrane potential, and Yme1L.276
177094302007Regulation of the mitochondrial dynamin-like protein Opa1 by proteolytic cleavage.176
170030402006Proteolytic processing of OPA1 links mitochondrial dysfunction to alterations in mitochondrial morphology.150
181583172008OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.139
149702232004Loss of the intermembrane space protein Mgm1/OPA1 induces swelling and localized constrictions along the lengths of mitochondria.133
180654392008Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.118
194939562009Mitochondrial OPA1, apoptosis, and heart failure.112
182229912008OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion.107

Citation

Dessen P

OPA1 (OPA1 mitochondrial dynamin like GTPase)

Atlas Genet Cytogenet Oncol Haematol. 2012-02-01

Online version: http://atlasgeneticsoncology.org/gene/52594/opa1