Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Metalloendopeptidase OMA1, mitochondrial

Gene

OMA1

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

Functioni

Metalloprotease that is part of the quality control system in the inner membrane of mitochondria. Following stress conditions that induce loss of mitochondrial membrane potential, mediates cleavage of OPA1 at S1 position, leading to OPA1 inactivation and negative regulation of mitochondrial fusion. May also cleave UQCC3 under these conditions. Its role in mitochondrial quality control is essential for regulating lipid metabolism as well as to maintain body temperature and energy expenditure under cold-stress conditions.By similarity1 Publication

Cofactori

Zn2+CuratedNote: Binds 1 zinc ion per subunit.Curated

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi327Zinc; catalyticPROSITE-ProRule annotation1
Active sitei328PROSITE-ProRule annotation1
Metal bindingi331Zinc; catalyticCurated1
Metal bindingi392Zinc; catalyticPROSITE-ProRule annotation1

GO - Molecular functioni

  • metal ion binding Source: UniProtKB-KW
  • metalloendopeptidase activity Source: UniProtKB

GO - Biological processi

  • cristae formation Source: Ensembl
  • diet induced thermogenesis Source: UniProtKB
  • energy homeostasis Source: UniProtKB
  • glucose metabolic process Source: UniProtKB
  • lipid metabolic process Source: UniProtKB
  • misfolded or incompletely synthesized protein catabolic process Source: UniProtKB
  • mitochondrial protein processing Source: UniProtKB
  • negative regulation of mitochondrial fusion Source: UniProtKB
  • response to stress Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Metalloprotease, Protease

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-169911. Regulation of Apoptosis.

Protein family/group databases

MEROPSiM48.017.

Names & Taxonomyi

Protein namesi
Recommended name:
Metalloendopeptidase OMA1, mitochondrial (EC:3.4.24.-)
Alternative name(s):
Metalloprotease-related protein 1
Short name:
MPRP-1
Overlapping with the m-AAA protease 1 homolog
Gene namesi
Name:OMA1
Synonyms:MPRP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:29661. OMA1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei196 – 216HelicalSequence analysisAdd BLAST21
Transmembranei341 – 361HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • mitochondrial inner membrane Source: UniProtKB-SubCell
  • mitochondrial membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi331H → A: Abolishes ability to cleave OPA1 at S1 position. 1 Publication1

Organism-specific databases

DisGeNETi115209.
OpenTargetsiENSG00000162600.
PharmGKBiPA134911478.

Polymorphism and mutation databases

BioMutaiOMA1.
DMDMi74751828.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 13MitochondrionSequence analysisAdd BLAST13
ChainiPRO_000030280914 – 524Metalloendopeptidase OMA1, mitochondrialAdd BLAST511

Post-translational modificationi

In normal conditions, cleaved into an inactive 40 kDa form. Following CCCP treatment that induces loss of mitochondrial membrane potential, the 40 kDa form is reduced in favor of an active 60 kDa form.1 Publication

Proteomic databases

EPDiQ96E52.
MaxQBiQ96E52.
PaxDbiQ96E52.
PeptideAtlasiQ96E52.
PRIDEiQ96E52.

PTM databases

iPTMnetiQ96E52.
PhosphoSitePlusiQ96E52.

Expressioni

Tissue specificityi

Widely expressed, with strong expression in the heart, skeletal muscle, kidney and liver.1 Publication

Gene expression databases

BgeeiENSG00000162600.
CleanExiHS_OMA1.
ExpressionAtlasiQ96E52. baseline and differential.
GenevisibleiQ96E52. HS.

Organism-specific databases

HPAiHPA055120.

Interactioni

Protein-protein interaction databases

BioGridi125420. 20 interactors.
IntActiQ96E52. 1 interactor.
STRINGi9606.ENSP00000360270.

Structurei

3D structure databases

ProteinModelPortaliQ96E52.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the peptidase M48 family.Curated

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2661. Eukaryota.
COG0501. LUCA.
GeneTreeiENSGT00390000007027.
HOVERGENiHBG096685.
InParanoidiQ96E52.
OMAiFAIIVGR.
OrthoDBiEOG091G087J.
PhylomeDBiQ96E52.
TreeFamiTF329133.

Family and domain databases

InterProiIPR001915. Peptidase_M48.
[Graphical view]
PfamiPF01435. Peptidase_M48. 1 hit.
[Graphical view]
PROSITEiPS00142. ZINC_PROTEASE. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96E52-1) [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
MSFICGLQSA ARNHVFFRFN SLSNWRKCNT LASTSRGCHQ VQVNHIVNKY
60 70 80 90 100
QGLGVNQCDR WSFLPGNFHF YSTFNNKRTG GLSSTKSKEI WRITSKCTVW
110 120 130 140 150
NDAFSRQLLI KEVTAVPSLS VLHPLSPASI RAIRNFHTSP RFQAAPVPLL
160 170 180 190 200
LMILKPVQKL FAIIVGRGIR KWWQALPPNK KEVVKENIRK NKWKLFLGLS
210 220 230 240 250
SFGLLFVVFY FTHLEVSPIT GRSKLLLLGK EQFRLLSELE YEAWMEEFKN
260 270 280 290 300
DMLTEKDARY LAVKEVLCHL IECNKDVPGI SQINWVIHVV DSPIINAFVL
310 320 330 340 350
PNGQMFVFTG FLNSVTDIHQ LSFLLGHEIA HAVLGHAAEK AGMVHLLDFL
360 370 380 390 400
GMIFLTMIWA ICPRDSLALL CQWIQSKLQE YMFNRPYSRK LEAEADKIGL
410 420 430 440 450
LLAAKACADI RASSVFWQQM EFVDSLHGQP KMPEWLSTHP SHGNRVEYLD
460 470 480 490 500
RLIPQALKIR EMCNCPPLSN PDPRLLFKLS TKHFLEESEK EDLNITKKQK
510 520
MDTLPIQKQE QIPLTYIVEK RTGS
Length:524
Mass (Da):60,120
Last modified:December 1, 2001 - v1
Checksum:iF8F9B37489B0EFF1
GO
Isoform 2 (identifier: Q96E52-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     456-524: ALKIREMCNC...TYIVEKRTGS → LVREEKFIEQPEQIAELTLNSFIQNTEICRS

Note: No experimental confirmation available.
Show »
Length:486
Mass (Da):55,744
Checksum:iF2D48060E2D25826
GO

Sequence cautioni

The sequence BAC03583 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAI13522 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI13523 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI13524 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI13525 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI13526 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI22238 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03495867N → K.Corresponds to variant rs34466938dbSNPEnsembl.1
Natural variantiVAR_06575569H → Y in a patient with amyotrophic lateral sclerosis. 1 PublicationCorresponds to variant rs75220198dbSNPEnsembl.1
Natural variantiVAR_034959117P → L.1 PublicationCorresponds to variant rs17117720dbSNPEnsembl.1
Natural variantiVAR_034960211F → C.Corresponds to variant rs17117699dbSNPEnsembl.1
Natural variantiVAR_035708226L → V in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_065756272E → G in a patient with amyotrophic lateral sclerosis. 1 PublicationCorresponds to variant rs139938730dbSNPEnsembl.1
Natural variantiVAR_034961329I → L.1 PublicationCorresponds to variant rs17117678dbSNPEnsembl.1
Natural variantiVAR_065757365D → Y.1 PublicationCorresponds to variant rs77980955dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_027958456 – 524ALKIR…KRTGS → LVREEKFIEQPEQIAELTLN SFIQNTEICRS in isoform 2. 1 PublicationAdd BLAST69

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB048348 mRNA. Translation: BAC79381.1.
AL365187 Genomic DNA. Translation: CAI13522.1. Sequence problems.
AL365187 Genomic DNA. Translation: CAI13523.1. Sequence problems.
AL365187 Genomic DNA. Translation: CAI13524.1. Sequence problems.
AL365187 Genomic DNA. Translation: CAI13525.1. Sequence problems.
AL365187, AL109845 Genomic DNA. Translation: CAI13526.1. Sequence problems.
AL109845, AL365187 Genomic DNA. Translation: CAI22238.1. Sequence problems.
AL365187, AL109845 Genomic DNA. Translation: CAI13527.1.
AL109845, AL365187 Genomic DNA. Translation: CAI22239.1.
CH471059 Genomic DNA. Translation: EAX06631.1.
CH471059 Genomic DNA. Translation: EAX06632.1.
CH471059 Genomic DNA. Translation: EAX06633.1.
BC012915 mRNA. Translation: AAH12915.1.
AK091101 mRNA. Translation: BAC03583.1. Different initiation.
CCDSiCCDS608.1. [Q96E52-1]
RefSeqiNP_660286.1. NM_145243.4. [Q96E52-1]
UniGeneiHs.425769.

Genome annotation databases

EnsembliENST00000371226; ENSP00000360270; ENSG00000162600. [Q96E52-1]
GeneIDi115209.
KEGGihsa:115209.
UCSCiuc001cyy.4. human. [Q96E52-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB048348 mRNA. Translation: BAC79381.1.
AL365187 Genomic DNA. Translation: CAI13522.1. Sequence problems.
AL365187 Genomic DNA. Translation: CAI13523.1. Sequence problems.
AL365187 Genomic DNA. Translation: CAI13524.1. Sequence problems.
AL365187 Genomic DNA. Translation: CAI13525.1. Sequence problems.
AL365187, AL109845 Genomic DNA. Translation: CAI13526.1. Sequence problems.
AL109845, AL365187 Genomic DNA. Translation: CAI22238.1. Sequence problems.
AL365187, AL109845 Genomic DNA. Translation: CAI13527.1.
AL109845, AL365187 Genomic DNA. Translation: CAI22239.1.
CH471059 Genomic DNA. Translation: EAX06631.1.
CH471059 Genomic DNA. Translation: EAX06632.1.
CH471059 Genomic DNA. Translation: EAX06633.1.
BC012915 mRNA. Translation: AAH12915.1.
AK091101 mRNA. Translation: BAC03583.1. Different initiation.
CCDSiCCDS608.1. [Q96E52-1]
RefSeqiNP_660286.1. NM_145243.4. [Q96E52-1]
UniGeneiHs.425769.

3D structure databases

ProteinModelPortaliQ96E52.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125420. 20 interactors.
IntActiQ96E52. 1 interactor.
STRINGi9606.ENSP00000360270.

Protein family/group databases

MEROPSiM48.017.

PTM databases

iPTMnetiQ96E52.
PhosphoSitePlusiQ96E52.

Polymorphism and mutation databases

BioMutaiOMA1.
DMDMi74751828.

Proteomic databases

EPDiQ96E52.
MaxQBiQ96E52.
PaxDbiQ96E52.
PeptideAtlasiQ96E52.
PRIDEiQ96E52.

Protocols and materials databases

DNASUi115209.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371226; ENSP00000360270; ENSG00000162600. [Q96E52-1]
GeneIDi115209.
KEGGihsa:115209.
UCSCiuc001cyy.4. human. [Q96E52-1]

Organism-specific databases

CTDi115209.
DisGeNETi115209.
GeneCardsiOMA1.
H-InvDBHIX0077405.
HGNCiHGNC:29661. OMA1.
HPAiHPA055120.
neXtProtiNX_Q96E52.
OpenTargetsiENSG00000162600.
PharmGKBiPA134911478.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2661. Eukaryota.
COG0501. LUCA.
GeneTreeiENSGT00390000007027.
HOVERGENiHBG096685.
InParanoidiQ96E52.
OMAiFAIIVGR.
OrthoDBiEOG091G087J.
PhylomeDBiQ96E52.
TreeFamiTF329133.

Enzyme and pathway databases

ReactomeiR-HSA-169911. Regulation of Apoptosis.

Miscellaneous databases

GenomeRNAii115209.
PROiQ96E52.

Gene expression databases

BgeeiENSG00000162600.
CleanExiHS_OMA1.
ExpressionAtlasiQ96E52. baseline and differential.
GenevisibleiQ96E52. HS.

Family and domain databases

InterProiIPR001915. Peptidase_M48.
[Graphical view]
PfamiPF01435. Peptidase_M48. 1 hit.
[Graphical view]
PROSITEiPS00142. ZINC_PROTEASE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiOMA1_HUMAN
AccessioniPrimary (citable) accession number: Q96E52
Secondary accession number(s): D3DQ54
, Q5T3G6, Q5T3G7, Q5T3G8, Q5T3G9, Q5T3H0, Q8NBB3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: December 1, 2001
Last modified: November 30, 2016
This is version 127 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

Caution

Was initially reported to localize in the endoplasmic reticulum (PubMed:12886954). However, it was later shown that it localizes to mitochondrion (PubMed:20038677).2 Publications

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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. Peptidase families
    Classification of peptidase families and list of entries
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.