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OPA1

CANCER ATLAS

Gene description

 Optic atrophy 1 (autosomal dominant)

Protein class

 Disease related genes, Enzymes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Transporters

Protein evidence

 Evidence at protein level
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA036926
HPA036927

GENE INFORMATION

Gene name

 OPA1 (HGNC Symbol)

Synonyms

 FLJ12460, KIAA0567, MGM1, NPG, NTG

Description

 Optic atrophy 1 (autosomal dominant) (HGNC Symbol)

Entrez gene summary

 This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

Chromosome

 3

Cytoband

 q29

Chromosome location (bp)

 193593144 - 193697823

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000198836 (version 83.38)

Entrez gene

 4976

UniProt

 O60313 (UniProt - Evidence at protein level)

neXtProt

 NX_O60313

Antibodypedia

 OPA1 antibodies

PROTEIN BROWSER
«
OPA1-001
OPA1-002
OPA1-004
OPA1-005
OPA1-006
OPA1-009
OPA1-010
OPA1-011
OPA1-201
OPA1-202
OPA1-203
OPA1-204
»

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
OPA1-001
ENSP00000354681
ENST00000361908
O60313 [Direct mapping]
Dynamin-like 120 kDa protein, mitochondrial Dynamin-like 120 kDa protein, form S1
E5KLJ7 [Target identity:100%; Query identity:100%]
Mitochondrial dynamin-like 120 kDa protein; Optic atrophy 1 (Autosomal dominant), isoform CRA_d
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Transporters
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000002 [mitochondrial genome maintenance]
GO:0000266 [mitochondrial fission]
GO:0000287 [magnesium ion binding]
GO:0001843 [neural tube closure]
GO:0003924 [GTPase activity]
GO:0005515 [protein binding]
GO:0005525 [GTP binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005741 [mitochondrial outer membrane]
GO:0005743 [mitochondrial inner membrane]
GO:0005758 [mitochondrial intermembrane space]
GO:0006915 [apoptotic process]
GO:0007005 [mitochondrion organization]
GO:0007007 [inner mitochondrial membrane organization]
GO:0007568 [aging]
GO:0007601 [visual perception]
GO:0008053 [mitochondrial fusion]
GO:0008152 [metabolic process]
GO:0010636 [positive regulation of mitochondrial fusion]
GO:0014042 [positive regulation of neuron maturation]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0019896 [axon transport of mitochondrion]
GO:0030061 [mitochondrial crista]
GO:0030425 [dendrite]
GO:0031314 [extrinsic component of mitochondrial inner membrane]
GO:0090201 [negative regulation of release of cytochrome c from mitochondria]
GO:0090398 [cellular senescence]
GO:1900006 [positive regulation of dendrite development]
GO:1902236 [negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway]
Show all
 997 aa
115.9 kDa 		No 0
OPA1-002
ENSP00000376233
ENST00000392438
O60313 [Direct mapping]
Dynamin-like 120 kDa protein, mitochondrial Dynamin-like 120 kDa protein, form S1
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Transporters
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000002 [mitochondrial genome maintenance]
GO:0000266 [mitochondrial fission]
GO:0000287 [magnesium ion binding]
GO:0003924 [GTPase activity]
GO:0005515 [protein binding]
GO:0005525 [GTP binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005741 [mitochondrial outer membrane]
GO:0005743 [mitochondrial inner membrane]
GO:0005758 [mitochondrial intermembrane space]
GO:0006915 [apoptotic process]
GO:0007005 [mitochondrion organization]
GO:0007007 [inner mitochondrial membrane organization]
GO:0007601 [visual perception]
GO:0008053 [mitochondrial fusion]
GO:0008152 [metabolic process]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0019896 [axon transport of mitochondrion]
GO:0030061 [mitochondrial crista]
GO:0030425 [dendrite]
GO:0090201 [negative regulation of release of cytochrome c from mitochondria]
GO:0090398 [cellular senescence]
GO:1902236 [negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway]
Show all
 960 aa
111.6 kDa 		No 0
OPA1-004
ENSP00000376232
ENST00000392437
A8MXB6 [Direct mapping]
Dynamin-like 120 kDa protein, mitochondrial
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 166 aa
19.3 kDa 		No 0
OPA1-005
ENSP00000376231
ENST00000392436
C9JMB8 [Direct mapping]
Dynamin-like 120 kDa protein, mitochondrial
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 243 aa
27.9 kDa 		No 0
OPA1-006
ENSP00000409084
ENST00000434811
H7C321 [Direct mapping]
Dynamin-like 120 kDa protein, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 185 aa
21.3 kDa 		No 0
OPA1-009
ENSP00000398358
ENST00000445863
H7C141 [Direct mapping]
Dynamin-like 120 kDa protein, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 183 aa
21.3 kDa 		No 0
OPA1-010
ENSP00000411699
ENST00000429164
H7C3G2 [Direct mapping]
Dynamin-like 120 kDa protein, mitochondrial
Show all
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 131 aa
14.4 kDa 		No 0
OPA1-011
ENSP00000399877
ENST00000419435
C9JY58 [Direct mapping]
Dynamin-like 120 kDa protein, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 84 aa
9.8 kDa 		No 0
OPA1-201
ENSP00000354781
ENST00000361150
E5KLK1 [Direct mapping]
Dynamin-like 120 kDa protein, mitochondrial; Mitochondrial dynamin-like 120 kDa protein; Optic atrophy 1 (Autosomal dominant), isoform CRA_f
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0008152 [metabolic process]
Show all
 961 aa
111.8 kDa 		No 0
OPA1-202
ENSP00000355324
ENST00000361510
E5KLJ5 [Direct mapping]
Dynamin-like 120 kDa protein, mitochondrial; Mitochondrial dynamin-like 120 kDa protein; Optic atrophy 1 (Autosomal dominant), isoform CRA_g
Show all
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0008152 [metabolic process]
Show all
 1015 aa
117.7 kDa 		No 0
OPA1-203
ENSP00000355311
ENST00000361715
E5KLJ9 [Direct mapping]
Dynamin-like 120 kDa protein, mitochondrial; Mitochondrial dynamin-like 120 kDa protein; Optic atrophy 1 (Autosomal dominant), isoform CRA_h
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0008152 [metabolic process]
Show all
 979 aa
113.7 kDa 		No 0
OPA1-204
ENSP00000354429
ENST00000361828
E5KLJ6 [Direct mapping]
Dynamin-like 120 kDa protein, mitochondrial; Mitochondrial dynamin-like 120 kDa protein; Optic atrophy 1 (Autosomal dominant), isoform CRA_c
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0008152 [metabolic process]
Show all
 978 aa
113.5 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.