OPA1

GENERAL INFORMATION

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Gene name

OPA1

Gene description

Optic atrophy 1 (autosomal dominant)

Protein class

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

Predicted localization

Intracellular

Number of transcripts

12
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in a granular pattern in most tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA036926 , HPA036927
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Salivary gland

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

4976

UniProt

O60313 (UniProt - Evidence at protein level)

neXtProt

NX_O60313

Antibodypedia

OPA1 antibodies


PROTEIN BROWSER

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ENST00000361150
 
ENST00000361510
 
ENST00000361715
 
ENST00000361828
 
ENST00000361908
 
ENST00000392436
 
ENST00000392437
 
ENST00000392438
 
ENST00000419435
 
ENST00000429164
 
ENST00000434811
 
ENST00000445863
 
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PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

OPA1-001 ENSP00000354681
ENST00000361908
O60313
Show all »
Show » Show » 997 115.9 No 0
OPA1-002 ENSP00000376233
ENST00000392438
O60313
Show all »
Show » Show » 960 111.6 No 0
OPA1-004 ENSP00000376232
ENST00000392437
A8MXB6
Show all »
Show » 166 19.3 No 0
OPA1-005 ENSP00000376231
ENST00000392436
C9JMB8
Show all »
Show » 243 27.9 No 0
OPA1-006 ENSP00000409084
ENST00000434811
Show » 185 21.3 No 0
OPA1-009 ENSP00000398358
ENST00000445863
H7C141
Show all »
Show » 183 21.3 No 0
OPA1-010 ENSP00000411699
ENST00000429164
Show » 131 14.4 No 0
OPA1-011 ENSP00000399877
ENST00000419435
C9JY58
Show all »
Show » 84 9.8 No 0
OPA1-201 ENSP00000354781
ENST00000361150
E5KLK1
Show all »
Show » Show » 961 111.8 No 0
OPA1-202 ENSP00000355324
ENST00000361510
E5KLJ5
Show all »
Show » Show » 1015 117.7 No 0
OPA1-203 ENSP00000355311
ENST00000361715
E5KLJ9
Show all »
Show » Show » 979 113.7 No 0
OPA1-204 ENSP00000354429
ENST00000361828
E5KLJ6
Show all »
Show » Show » 978 113.5 No 0