Q9H6K4 (OPA3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Optic atrophy 3 protein

Gene names

Name:

OPA3

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	179 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Defects in OPA3 are the cause of 3-methylglutaconic aciduria type 3 (MGA3) [MIM:258501]; also known as optic atrophy plus syndrome or Costeff optic atrophy syndrome. MGA3 is an autosomal recessive 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. Ref.1 Defects in OPA3 are the cause of optic atrophy type 3 (OPA3) [MIM:165300]; also known as autosomal dominant optic atrophy and cataract (ADOAC) or cataract, optic atrophy and neurologic disorder. Hereditary optic atrophy form a heterogeneous group of disorders. The autosomal dominant forms are characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disk pallor, color vision deficits and centrocecal scotoma of variable density. Ref.5
Sequence similarities	Belongs to the OPA3 family.

Ontologies

Keywords
Biological process	Sensory transduction Vision
Cellular component	Mitochondrion
Coding sequence diversity	Alternative splicing
Disease	Cataract Disease mutation
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	response to stimulus Inferred from electronic annotation. Source: UniProtKB-KW visual perception Inferred from mutant phenotype Ref.5. Source: UniProtKB
Cellular component	mitochondrion Non-traceable author statement Ref.1. Source: UniProtKB
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
	Sequence conflict	130	1	G → E in BAC05415. Ref.2

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 179	179	Optic atrophy 3 protein		PRO_0000220763
Regions
	Coiled coil	103 – 163	61	Potential
Natural variations
	Alternative sequence	52 – 179	128	VEMRT…PASKK → LEMRTKMRIMGFNAAAIKPL NEGAAAELGAELLGEGIIFI TACSCLMLEYWRHQLQQRRK EKERRVAREALRGEVGHLGL ALEELQAQVQATSTQLALEE LRAQLQEVRAHLCLRDPPPA PPVAPASEK in isoform 2.		VSP_032681
	Natural variant	93	1	G → S in OPA3. Ref.5		VAR_033103
	Natural variant	105	1	Q → E in OPA3. Ref.5		VAR_033104

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 2FB48F84B24E5AE8	FASTA	179	19,996
	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
	Isoform 2 [UniParc]. Checksum: 3D244FE24B3D8DBA	FASTA	180	20,255
	10 20 30 40 50 60 MVVGAFPMAK LLYLGIRQVS KPLANRIKEA ARRSEFFKTY ICLPPAQLYH WLEMRTKMRI 70 80 90 100 110 120 MGFNAAAIKP LNEGAAAELG AELLGEGIIF ITACSCLMLE YWRHQLQQRR KEKERRVARE 130 140 150 160 170 180 ALRGEVGHLG LALEELQAQV QATSTQLALE ELRAQLQEVR AHLCLRDPPP APPVAPASEK

References

	« Hide 'large scale' referencesShow '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: 11668429] [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. , 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: 14702039] [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: 15489334] [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: 21269460] [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: 15342707] [Abstract] Cited for: VARIANTS OPA3 SER-93 AND GLU-105.
+	Additional computationally mapped references.

Web resources

GeneReviews

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.
IPI	IPI00018600. IPI00556519.
RefSeq	NP_001017989.2. NM_001017989.2. NP_079412.1. NM_025136.3.
UniGene	Hs.466945. Hs.723713.
3D structure databases
ProteinModelPortal	Q9H6K4.
ModBase	Search...
Protein-protein interaction databases
STRING	Q9H6K4.
Polymorphism databases
DMDM	20139177.
Proteomic databases
PeptideAtlas	Q9H6K4.
PRIDE	Q9H6K4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000263275; ENSP00000263275; ENSG00000125741.
GeneID	80207.
KEGG	hsa:80207.
UCSC	uc002pcj.2. human. uc002pck.2. human.
Organism-specific databases
CTD	80207.
GeneCards	GC19M046031.
H-InvDB	HIX0015236.
HGNC	HGNC:8142. OPA3.
HPA	HPA044881.
MIM	165300. phenotype. 258501. phenotype. 606580. gene.
neXtProt	NX_Q9H6K4.
Orphanet	67047. 3-methylglutaconic aciduria type 3. 67036. Autosomal dominant optic atrophy and cataract.
PharmGKB	PA31929.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG20225.
GeneTree	ENSGT00390000009795.
HOVERGEN	HBG019109.
OMA	PVANRIK.
Gene expression databases
ArrayExpress	Q9H6K4.
Bgee	Q9H6K4.
CleanEx	HS_OPA3.
Genevestigator	Q9H6K4.
GermOnline	ENSG00000125741. Homo sapiens.
Family and domain databases
InterPro	IPR010754. OPA3-like. [Graphical view]
PANTHER	PTHR12499. OPA3-like. 1 hit.
Pfam	PF07047. OPA3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	70584.
SOURCE	Search...

Entry information

Entry name

OPA3_HUMAN

Accession

Primary (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:	January 25, 2012
This is version 85 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.