OPA1

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 VIEW

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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

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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