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0OPA3_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameOPA3
DescriptionOptic atrophy 3 protein.
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GON/A
Domain Architecture (Details)
InterPro domains unassigned to SynO:
This family consists of several optic atrophy 3 (OPA3) proteins. OPA3 deficiency causes type III 3-methylglutaconic aciduria (MGA) in humans. This disease manifests with early bilateral optic atrophy.pasticity.xtrapyramidal dysfunction.taxia.nd cognitive deficits.ut normal longevity .
  IPR010754:Optic atrophy 3
IPR010754:OPA3 
Evalue:-90.1487426757813 
Location:7-139
SequencesProtein: OPA3_HUMAN (179 aa)
mRNA: NM_025136
Local Annotation
Synapse Ontology
mitochondria are frequently observed in the vicinity of the synaptic vesicle clusters, in agreement with the ATP requirement of several steps of the vesicle cycle.
sdb:0118 mitochondria  (Evidence:keywords)
KO assignmentNot mapped to KEGG
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 457 residues, 50747641-50749009Exon2: 67 residues, 50779720-50779917Exon3: 2 residues, -Jump to OPA3_HUMAN  
Tune and view alternative isoforms
Loci Cluster (Details)Loci: 3116 50100878-50104489 ~-4K 19057(APOE)(+)Loci: 3117 50234137-50266053 ~-32K 19065(SFRS16)(+)Loci: 4398 50407718-50429309 ~-22K 19076(-)Loci: 3118 50446389-50500381 ~-54K 19078(MARK4)(+)Loci: 4399 50546685-50565669 ~-19K 19089(ERCC2)(-)Loci: 4400 50747641-50779917 ~-32K 19109(OPA3)(-)Loci: 4401 50804499-50834509 ~-30K 19111(EML2)(-)Loci: 3119 50863341-50877557 ~-14K 19113(GIPR)(+)Loci: 4402 51134630-51168497 ~-34K 19134(NOVA2)(-)Loci: 3120 51542133-51585943 ~-44K 19149(PPP5C)(+)Loci: 3121 51796351-51805878 ~-10K 19157(CALM1)(+)Loci: 4403 51869413-51911506 ~-42K 19161(PRKD2)(-)Loci: 4404 52033262-52046043 ~-13K 19167(AP2S1)(-)Loci: 3115 50004177-50016517 ~-12K 19053(LU)(+)Link out to UCSC