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Q9H6K4 (OPA3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 106. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Optic atrophy 3 protein
Gene names
Name:OPA3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length179 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May play some role in mitochondrial processes.

Subcellular location

Mitochondrion Probable.

Tissue specificity

Ubiquitous. Most prominent expression in skeletal muscle and kidney. Ref.1

Involvement in disease

3-methylglutaconic aciduria 3 (MGA3) [MIM:258501]: A metabolic disorder that causes a neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy, spasticity, extrapyramidal dysfunction and cognitive deficit. Urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid is increased. MGA3 can be distinguished from MGA1 by the absence of increase of 3-hydroxyisovaleric acid levels.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1

Optic atrophy 3 (OPA3) [MIM:165300]: A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA3 is associated with cataract and a neurologic disorder characterized by extrapyramidal signs and ataxia.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Sequence similarities

Belongs to the OPA3 family.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Note: The two isoforms share the first coding exon and than differ due to a duplicated alternative second coding exon.
Isoform 1 (identifier: Q9H6K4-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9H6K4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     52-179: VEMRTKMRIM...ASHAVPASKK → LEMRTKMRIM...APPVAPASEK

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 179179Optic atrophy 3 protein
PRO_0000220763

Regions

Coiled coil103 – 16361 Potential

Natural variations

Alternative sequence52 – 179128VEMRT…PASKK → LEMRTKMRIMGFNAAAIKPL NEGAAAELGAELLGEGIIFI TACSCLMLEYWRHQLQQRRK EKERRVAREALRGEVGHLGL ALEELQAQVQATSTQLALEE LRAQLQEVRAHLCLRDPPPA PPVAPASEK in isoform 2.
VSP_032681
Natural variant931G → S in OPA3. Ref.5
VAR_033103
Natural variant1051Q → E in OPA3. Ref.5
VAR_033104

Experimental info

Isoform 2:
Sequence conflict1301G → E in BAC05415. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: 2FB48F84B24E5AE8

FASTA17919,996
        10         20         30         40         50         60 
MVVGAFPMAK LLYLGIRQVS KPLANRIKEA ARRSEFFKTY ICLPPAQLYH WVEMRTKMRI 

        70         80         90        100        110        120 
MGFRGTVIKP LNEEAAAELG AELLGEATIF IVGGGCLVLE YWRHQAQQRH KEEEQRAAWN 

       130        140        150        160        170 
ALRDEVGHLA LALEALQAQV QAAPPQGALE ELRTELQEVR AQLCNPGRSA SHAVPASKK 

« Hide

Isoform 2 [UniParc].

Checksum: 3D244FE24B3D8DBA
Show »

FASTA18020,255

References

« Hide 'large scale' references
[1]"Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews."
Anikster Y., Kleta R., Shaag A., Gahl W.A., Elpeleg O.
Am. J. Hum. Genet. 69:1218-1224(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN MGA3, TISSUE SPECIFICITY.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Brain.
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Kidney, Lung and Testis.
[4]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[5]"OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract."
Reynier P., Amati-Bonneau P., Verny C., Olichon A., Simard G., Guichet A., Bonnemains C., Malecaze F., Malinge M.C., Pelletier J.B., Calvas P., Dollfus H., Belenguer P., Malthiery Y., Lenaers G., Bonneau D.
J. Med. Genet. 41:E110-E110(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS OPA3 SER-93 AND GLU-105.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK025840 mRNA. Translation: BAB15255.1.
AK098798 mRNA. Translation: BAC05415.1.
BC005059 mRNA. Translation: AAH05059.1.
BC047316 mRNA. Translation: AAH47316.1.
BC064146 mRNA. Translation: AAH64146.1.
RefSeqNP_001017989.2. NM_001017989.2.
NP_079412.1. NM_025136.3.
UniGeneHs.466945.
Hs.723713.

3D structure databases

ProteinModelPortalQ9H6K4.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123176. 4 interactions.
IntActQ9H6K4. 3 interactions.
MINTMINT-8417711.
STRING9606.ENSP00000319817.

PTM databases

PhosphoSiteQ9H6K4.

Polymorphism databases

DMDM20139177.

Proteomic databases

PaxDbQ9H6K4.
PeptideAtlasQ9H6K4.
PRIDEQ9H6K4.

Protocols and materials databases

DNASU80207.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000263275; ENSP00000263275; ENSG00000125741. [Q9H6K4-1]
ENST00000323060; ENSP00000319817; ENSG00000125741. [Q9H6K4-2]
GeneID80207.
KEGGhsa:80207.
UCSCuc002pcj.4. human. [Q9H6K4-2]
uc002pck.4. human. [Q9H6K4-1]

Organism-specific databases

CTD80207.
GeneCardsGC19M046031.
H-InvDBHIX0174489.
HGNCHGNC:8142. OPA3.
HPAHPA044881.
MIM165300. phenotype.
258501. phenotype.
606580. gene.
neXtProtNX_Q9H6K4.
Orphanet67047. 3-methylglutaconic aciduria type 3.
67036. Autosomal dominant optic atrophy and cataract.
PharmGKBPA31929.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG241179.
HOGENOMHOG000007385.
HOVERGENHBG019109.
OMAHWIEMRT.
OrthoDBEOG7JMGG7.
PhylomeDBQ9H6K4.
TreeFamTF314653.

Gene expression databases

ArrayExpressQ9H6K4.
BgeeQ9H6K4.
CleanExHS_OPA3.
GenevestigatorQ9H6K4.

Family and domain databases

InterProIPR010754. OPA3-like.
[Graphical view]
PANTHERPTHR12499. PTHR12499. 1 hit.
PfamPF07047. OPA3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSOPA3. human.
GeneWikiOPA3.
GenomeRNAi80207.
NextBio70584.
PROQ9H6K4.
SOURCESearch...

Entry information

Entry nameOPA3_HUMAN
AccessionPrimary (citable) accession number: Q9H6K4
Secondary accession number(s): Q6P384, Q8N784
Entry history
Integrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: March 1, 2001
Last modified: April 16, 2014
This is version 106 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM