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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. OPA1, optic atrophy 1 (autosomal dominant)
Sequence ID:NM_015560
NM_130831
NM_130832
NM_130833
NM_130834
NM_130835
NM_130836
NM_130837
RefSeqGene ID:NG_011605
Entrez Gene ID:4976
Ensembl ID:ENSG00000198836

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data

  • This gene is found in these cDNA libraries from the following tissue types:
    b-cell, bone, bone marrow, brain, cartilage, cerebellum, cerebrum, colon, ear, embryonic tissue, endocrine, eye, fetus, gastrointestinal tract, heart, kidney, liver, lung, lymph node, lymphoreticular, mammary gland, muscle, nervous, ovary, pancreas, pancreatic islet, parathyroid, pituitary gland, placenta, pooled tissue, prostate, salivary gland, skin, soft tissue, stem cell, stomach, synovium, t-cell, testis, thymus, thyroid, uncharacterized tissue, uterus, vascular
  • SAGE Anatomic Viewer
  • SAGE Digital Northern

  • Monochromatic SAGE/cDNA Virtual Northern

  • Two-dimensional array displays (similar expression pattern in NCI60 microarray data or SAGE data)

Associated Diseases (from OMIM)

DiseaseOther Genes
GLAUCOMA, NORMAL TENSIONOPTN
OPTIC ATROPHY 1 
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY 

Cytogenetic Location (from UniGene)

Cytogenetic Location:3q28-q29Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:3: 193311111 - 193415315

 Exon Info From UCSC:
NM_015560
NM_130831
NM_130832
NM_130833
NM_130834
NM_130835
NM_130836
NM_130837

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
4214698Full LengthBC075805optic atrophy 1 (autosomal dominant)
4825622IncompleteBC035393optic atrophy 1 (autosomal dominant)
5297785IncompleteBC043443optic atrophy 1 (autosomal dominant)

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_056375  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_015560 NP_056375 O60313 Dynamin_N
NM_130831 NP_570844    
NM_130832 NP_570845    
NM_130833 NP_570846    
NM_130834 NP_570847    
NM_130835 NP_570848    
NM_130836 NP_570849    
NM_130837 NP_570850    

Related Sequences

 
mRNAGenPeptSwissProt
BC058013 AAH58013 Q6PEK6
BC075805 AAH75805 O60313
AB011139 BAA25493 O60313

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens OPA1 NP_570846 M.musculus Opa1 74143 Gene Info NP_598513 97
R.norvegicus Opa1 171116   NP_598269 96
A.gambiae AgaP_AGAP011286 1270645   XP_309360 59
D.melanogaster opa1-like 36578   NP_725369 56
C.elegans eat-3 174476   NP_495986 54

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)