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Q9H6K4

- OPA3_HUMAN

UniProt

Q9H6K4 - OPA3_HUMAN

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Protein

Optic atrophy 3 protein

Gene

OPA3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

May play some role in mitochondrial processes.

GO - Biological processi

  1. growth Source: Ensembl
  2. mitochondrion morphogenesis Source: Ensembl
  3. neuromuscular process Source: Ensembl
  4. regulation of lipid metabolic process Source: Ensembl
  5. response to stimulus Source: UniProtKB-KW
  6. visual perception Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Sensory transduction, Vision

Names & Taxonomyi

Protein namesi
Recommended name:
Optic atrophy 3 protein
Gene namesi
Name:OPA3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:8142. OPA3.

Subcellular locationi

GO - Cellular componenti

  1. mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti93 – 931G → S in OPA3. 1 Publication
VAR_033103
Natural varianti105 – 1051Q → E in OPA3. 1 Publication
VAR_033104

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

MIMi165300. phenotype.
258501. phenotype.
Orphaneti67047. 3-methylglutaconic aciduria type 3.
67036. Autosomal dominant optic atrophy and cataract.
PharmGKBiPA31929.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 179179Optic atrophy 3 proteinPRO_0000220763Add
BLAST

Proteomic databases

MaxQBiQ9H6K4.
PaxDbiQ9H6K4.
PeptideAtlasiQ9H6K4.
PRIDEiQ9H6K4.

PTM databases

PhosphoSiteiQ9H6K4.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9H6K4.
CleanExiHS_OPA3.
ExpressionAtlasiQ9H6K4. baseline and differential.
GenevestigatoriQ9H6K4.

Organism-specific databases

HPAiHPA044881.

Interactioni

Protein-protein interaction databases

BioGridi123176. 5 interactions.
IntActiQ9H6K4. 3 interactions.
MINTiMINT-8417711.
STRINGi9606.ENSP00000319817.

Structurei

3D structure databases

ProteinModelPortaliQ9H6K4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili103 – 16361Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the OPA3 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG241179.
GeneTreeiENSGT00390000009795.
HOGENOMiHOG000007385.
HOVERGENiHBG019109.
InParanoidiQ9H6K4.
OMAiICKPIAN.
OrthoDBiEOG7JMGG7.
PhylomeDBiQ9H6K4.
TreeFamiTF314653.

Family and domain databases

InterProiIPR010754. OPA3-like.
[Graphical view]
PANTHERiPTHR12499. PTHR12499. 1 hit.
PfamiPF07047. OPA3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MVVGAFPMAK LLYLGIRQVS KPLANRIKEA ARRSEFFKTY ICLPPAQLYH
60 70 80 90 100
WVEMRTKMRI MGFRGTVIKP LNEEAAAELG AELLGEATIF IVGGGCLVLE
110 120 130 140 150
YWRHQAQQRH KEEEQRAAWN ALRDEVGHLA LALEALQAQV QAAPPQGALE
160 170
ELRTELQEVR AQLCNPGRSA SHAVPASKK
Length:179
Mass (Da):19,996
Last modified:March 1, 2001 - v1
Checksum:i2FB48F84B24E5AE8
GO
Isoform 2 (identifier: Q9H6K4-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:180
Mass (Da):20,255
Checksum:i3D244FE24B3D8DBA
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Isoform 2 (identifier: Q9H6K4-2)
Sequence conflicti130 – 1301G → E in BAC05415. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti93 – 931G → S in OPA3. 1 Publication
VAR_033103
Natural varianti105 – 1051Q → E in OPA3. 1 Publication
VAR_033104

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei52 – 179128VEMRT…PASKK → LEMRTKMRIMGFNAAAIKPL NEGAAAELGAELLGEGIIFI TACSCLMLEYWRHQLQQRRK EKERRVAREALRGEVGHLGL ALEELQAQVQATSTQLALEE LRAQLQEVRAHLCLRDPPPA PPVAPASEK in isoform 2. 2 PublicationsVSP_032681Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS12668.1. [Q9H6K4-1]
CCDS33052.1. [Q9H6K4-2]
RefSeqiNP_001017989.2. NM_001017989.2. [Q9H6K4-2]
NP_079412.1. NM_025136.3. [Q9H6K4-1]
UniGeneiHs.466945.
Hs.723713.

Genome annotation databases

EnsembliENST00000263275; ENSP00000263275; ENSG00000125741. [Q9H6K4-1]
ENST00000323060; ENSP00000319817; ENSG00000125741. [Q9H6K4-2]
GeneIDi80207.
KEGGihsa:80207.
UCSCiuc002pcj.4. human. [Q9H6K4-2]
uc002pck.4. human. [Q9H6K4-1]

Polymorphism databases

DMDMi20139177.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS12668.1. [Q9H6K4-1 ]
CCDS33052.1. [Q9H6K4-2 ]
RefSeqi NP_001017989.2. NM_001017989.2. [Q9H6K4-2 ]
NP_079412.1. NM_025136.3. [Q9H6K4-1 ]
UniGenei Hs.466945.
Hs.723713.

3D structure databases

ProteinModelPortali Q9H6K4.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123176. 5 interactions.
IntActi Q9H6K4. 3 interactions.
MINTi MINT-8417711.
STRINGi 9606.ENSP00000319817.

PTM databases

PhosphoSitei Q9H6K4.

Polymorphism databases

DMDMi 20139177.

Proteomic databases

MaxQBi Q9H6K4.
PaxDbi Q9H6K4.
PeptideAtlasi Q9H6K4.
PRIDEi Q9H6K4.

Protocols and materials databases

DNASUi 80207.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000263275 ; ENSP00000263275 ; ENSG00000125741 . [Q9H6K4-1 ]
ENST00000323060 ; ENSP00000319817 ; ENSG00000125741 . [Q9H6K4-2 ]
GeneIDi 80207.
KEGGi hsa:80207.
UCSCi uc002pcj.4. human. [Q9H6K4-2 ]
uc002pck.4. human. [Q9H6K4-1 ]

Organism-specific databases

CTDi 80207.
GeneCardsi GC19M046031.
GeneReviewsi OPA3.
H-InvDB HIX0174489.
HGNCi HGNC:8142. OPA3.
HPAi HPA044881.
MIMi 165300. phenotype.
258501. phenotype.
606580. gene.
neXtProti NX_Q9H6K4.
Orphaneti 67047. 3-methylglutaconic aciduria type 3.
67036. Autosomal dominant optic atrophy and cataract.
PharmGKBi PA31929.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG241179.
GeneTreei ENSGT00390000009795.
HOGENOMi HOG000007385.
HOVERGENi HBG019109.
InParanoidi Q9H6K4.
OMAi ICKPIAN.
OrthoDBi EOG7JMGG7.
PhylomeDBi Q9H6K4.
TreeFami TF314653.

Miscellaneous databases

ChiTaRSi OPA3. human.
GeneWikii OPA3.
GenomeRNAii 80207.
NextBioi 70584.
PROi Q9H6K4.
SOURCEi Search...

Gene expression databases

Bgeei Q9H6K4.
CleanExi HS_OPA3.
ExpressionAtlasi Q9H6K4. baseline and differential.
Genevestigatori Q9H6K4.

Family and domain databases

InterProi IPR010754. OPA3-like.
[Graphical view ]
PANTHERi PTHR12499. PTHR12499. 1 hit.
Pfami PF07047. OPA3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  5. Cited for: VARIANTS OPA3 SER-93 AND GLU-105.

Entry informationi

Entry nameiOPA3_HUMAN
AccessioniPrimary (citable) accession number: Q9H6K4
Secondary accession number(s): Q6P384, Q8N784
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: March 1, 2001
Last modified: October 29, 2014
This is version 110 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3