Q96E52 (OMA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Metalloendopeptidase OMA1, mitochondrial
EC=3.4.24.-

Alternative name(s):
Metalloprotease-related protein 1
Short name=MPRP-1

Gene names

Name:	OMA1
Synonyms:	MPRP1

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	524 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Mitochondrial protease By similarity.
Cofactor	Binds 1 zinc ion per subunit Potential.
Subcellular location	Mitochondrion membrane; Multi-pass membrane protein Potential.
Tissue specificity	Widely expressed, with strong expression in the heart, skeletal muscle, kidney and liver. Ref.1
Sequence similarities	Belongs to the peptidase M48 family.
Caution	According to Ref.1, it localizes in the endoplasmic reticulum. However, the presence of a predicted transit peptide and the mitochondrial localization of orthologous protein in fungi suggests that the endoplasmic reticulum localization is unsure.
Sequence caution	The sequence BAC03583.1 differs from that shown. Reason: Erroneous initiation. The sequence CAI13522.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI13523.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI13524.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI13525.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI13526.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI22238.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Cellular component	Membrane Mitochondrion
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transit peptide Transmembrane Transmembrane helix
Ligand	Metal-binding Zinc
Molecular function	Hydrolase Metalloprotease Protease
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	proteolysis Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrial membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW metalloendopeptidase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q96E52-1)

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: Q96E52-2)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 13	13	Mitochondrion Potential
	Chain	14 – 524	511	Metalloendopeptidase OMA1, mitochondrial		PRO_0000302809
Regions
	Transmembrane	196 – 216	21	Helical; Potential
	Transmembrane	341 – 361	21	Helical; Potential
Sites
	Active site	328	1	By similarity
	Metal binding	327	1	Zinc; catalytic By similarity
	Metal binding	331	1	Zinc; catalytic By similarity
	Metal binding	392	1	Zinc; catalytic By similarity
Natural variations
	Alternative sequence	456 – 524	69	ALKIR…KRTGS → LVREEKFIEQPEQIAELTLN SFIQNTEICRS in isoform 2.		VSP_027958
	Natural variant	67	1	N → K. Corresponds to variant rs34466938 [ dbSNP | Ensembl ].		VAR_034958
	Natural variant	69	1	H → Y in a patient with amyotrophic lateral sclerosis. Ref.7		VAR_065755
	Natural variant	117	1	P → L. Ref.7 Corresponds to variant rs17117720 [ dbSNP | Ensembl ].		VAR_034959
	Natural variant	211	1	F → C. Corresponds to variant rs17117699 [ dbSNP | Ensembl ].		VAR_034960
	Natural variant	226	1	L → V in a colorectal cancer sample; somatic mutation. Ref.6		VAR_035708
	Natural variant	272	1	E → G in a patient with amyotrophic lateral sclerosis. Ref.7		VAR_065756
	Natural variant	329	1	I → L. Ref.7 Corresponds to variant rs17117678 [ dbSNP | Ensembl ].		VAR_034961
	Natural variant	365	1	D → Y. Ref.7		VAR_065757

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: F8F9B37489B0EFF1	FASTA	524	60,120
	10 20 30 40 50 60 MSFICGLQSA ARNHVFFRFN SLSNWRKCNT LASTSRGCHQ VQVNHIVNKY QGLGVNQCDR 70 80 90 100 110 120 WSFLPGNFHF YSTFNNKRTG GLSSTKSKEI WRITSKCTVW NDAFSRQLLI KEVTAVPSLS 130 140 150 160 170 180 VLHPLSPASI RAIRNFHTSP RFQAAPVPLL LMILKPVQKL FAIIVGRGIR KWWQALPPNK 190 200 210 220 230 240 KEVVKENIRK NKWKLFLGLS SFGLLFVVFY FTHLEVSPIT GRSKLLLLGK EQFRLLSELE 250 260 270 280 290 300 YEAWMEEFKN DMLTEKDARY LAVKEVLCHL IECNKDVPGI SQINWVIHVV DSPIINAFVL 310 320 330 340 350 360 PNGQMFVFTG FLNSVTDIHQ LSFLLGHEIA HAVLGHAAEK AGMVHLLDFL GMIFLTMIWA 370 380 390 400 410 420 ICPRDSLALL CQWIQSKLQE YMFNRPYSRK LEAEADKIGL LLAAKACADI RASSVFWQQM 430 440 450 460 470 480 EFVDSLHGQP KMPEWLSTHP SHGNRVEYLD RLIPQALKIR EMCNCPPLSN PDPRLLFKLS 490 500 510 520 TKHFLEESEK EDLNITKKQK MDTLPIQKQE QIPLTYIVEK RTGS
	Isoform 2 [UniParc]. Checksum: F2D48060E2D25826	FASTA	486	55,744
	10 20 30 40 50 60 MSFICGLQSA ARNHVFFRFN SLSNWRKCNT LASTSRGCHQ VQVNHIVNKY QGLGVNQCDR 70 80 90 100 110 120 WSFLPGNFHF YSTFNNKRTG GLSSTKSKEI WRITSKCTVW NDAFSRQLLI KEVTAVPSLS 130 140 150 160 170 180 VLHPLSPASI RAIRNFHTSP RFQAAPVPLL LMILKPVQKL FAIIVGRGIR KWWQALPPNK 190 200 210 220 230 240 KEVVKENIRK NKWKLFLGLS SFGLLFVVFY FTHLEVSPIT GRSKLLLLGK EQFRLLSELE 250 260 270 280 290 300 YEAWMEEFKN DMLTEKDARY LAVKEVLCHL IECNKDVPGI SQINWVIHVV DSPIINAFVL 310 320 330 340 350 360 PNGQMFVFTG FLNSVTDIHQ LSFLLGHEIA HAVLGHAAEK AGMVHLLDFL GMIFLTMIWA 370 380 390 400 410 420 ICPRDSLALL CQWIQSKLQE YMFNRPYSRK LEAEADKIGL LLAAKACADI RASSVFWQQM 430 440 450 460 470 480 EFVDSLHGQP KMPEWLSTHP SHGNRVEYLD RLIPQLVREE KFIEQPEQIA ELTLNSFIQN TEICRS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of a human cDNA sequence which encodes a novel membrane-associated protein containing a zinc metalloprotease motif." Bao Y.-C., Tsuruga H., Hirai M., Yasuda K., Yokoi N., Kitamura T., Kumagai H. DNA Res. 10:123-128(2003) [PubMed: 12886954] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
[2]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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] (ISOFORM 1). Tissue: Liver.
[5]	"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] OF 160-524 (ISOFORM 2). Tissue: Substantia nigra.
[6]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-226.
[7]	"Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis." Daoud H., Valdmanis P.N., Gros-Louis F., Belzil V., Spiegelman D., Henrion E., Diallo O., Desjarlais A., Gauthier J., Camu W., Dion P.A., Rouleau G.A. Arch. Neurol. 68:587-593(2011) [PubMed: 21220648] [Abstract] Cited for: VARIANTS TYR-69; LEU-117; GLY-272; LEU-329 AND TYR-365.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00061229. IPI00168213.
RefSeq	NP_660286.1. NM_145243.3.
UniGene	Hs.425769.
3D structure databases
ProteinModelPortal	Q96E52.
SMR	Q96E52. Positions 253-338.
ModBase	Search...
Protein-protein interaction databases
STRING	Q96E52.
Protein family/group databases
MEROPS	M48.017.
Polymorphism databases
DMDM	74751828.
Proteomic databases
PRIDE	Q96E52.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000371226; ENSP00000360270; ENSG00000162600.
GeneID	115209.
KEGG	hsa:115209.
UCSC	uc001cyx.1. human. uc001cyy.1. human.
Organism-specific databases
CTD	115209.
GeneCards	GC01M058881.
H-InvDB	HIX0077405.
HGNC	HGNC:29661. OMA1.
neXtProt	NX_Q96E52.
PharmGKB	PA134911478.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG04675.
GeneTree	ENSGT00390000007027.
HOVERGEN	HBG096685.
InParanoid	Q96E52.
OMA	LEYEAWM.
PhylomeDB	Q96E52.
Gene expression databases
ArrayExpress	Q96E52.
Bgee	Q96E52.
CleanEx	HS_OMA1.
Genevestigator	Q96E52.
Family and domain databases
InterPro	IPR001915. Peptidase_M48. [Graphical view]
Pfam	PF01435. Peptidase_M48. 1 hit. [Graphical view]
PROSITE	PS00142. ZINC_PROTEASE. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	79540.

Entry information

Entry name

OMA1_HUMAN

Accession

Primary (citable) accession number: Q96E52
Secondary accession number(s): D3DQ54 , Q5T3G6, Q5T3G7, Q5T3G8, Q5T3G9, Q5T3H0, Q8NBB3

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 11, 2007
Last sequence update:	December 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.