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Q96TA2 (YMEL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 125. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
ATP-dependent zinc metalloprotease YME1L1

EC=3.4.24.-
Alternative name(s):
ATP-dependent metalloprotease FtsH1
Meg-4
Presenilin-associated metalloprotease
Short name=PAMP
YME1-like protein 1
Gene names
Name:YME1L1
Synonyms:FTSH1, YME1L
ORF Names:UNQ1868/PRO4304
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length773 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Putative ATP-dependent protease which plays a role in mitochondrial protein metabolism. Ensures cell proliferation, maintains normal cristae morphology and complex I respiration activity, promotes antiapoptotic activity and protects mitochondria from the accumulation of oxidatively damaged membrane proteins. Requires to control the accumulation of nonassembled respiratory chain subunits (NDUFB6, OX4 and ND1). Seems to act in the processing of OPA1. Ref.8 Ref.10

Cofactor

Binds 1 zinc ion per subunit Potential.

Subunit structure

Exists in several complexes of 600-1100 kDa. Ref.10

Subcellular location

Mitochondrion inner membrane Ref.2 Ref.10.

Tissue specificity

High expression in cardiac and skeletal muscle mitochondria. Ref.10

Sequence similarities

In the N-terminal section; belongs to the AAA ATPase family.

In the C-terminal section; belongs to the peptidase M41 family.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96TA2-1)

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: Q96TA2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     57-113: Missing.
Note: Mutagenesis of Glu-543 to Gln does not complement excessive accumulation of subunits (NDUFB6, COX4,ND1) due to YME1 deletion mutant. Probably has no ATPase activity.
Isoform 3 (identifier: Q96TA2-3)

The sequence of this isoform differs from the canonical sequence as follows:
     57-113: Missing.
     168-200: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 773773ATP-dependent zinc metalloprotease YME1L1 HAMAP-Rule MF_01458
PRO_0000084667

Regions

Topological domain1 – 295295Mitochondrial matrix Potential
Transmembrane296 – 31621Helical; Potential
Topological domain317 – 773457Mitochondrial intermembrane Potential
Nucleotide binding379 – 3868ATP Potential

Sites

Active site6001 By similarity
Metal binding5991Zinc; catalytic By similarity
Metal binding6031Zinc; catalytic By similarity
Metal binding6771Zinc; catalytic By similarity

Natural variations

Alternative sequence57 – 11357Missing in isoform 2 and isoform 3.
VSP_010017
Alternative sequence168 – 20033Missing in isoform 3.
VSP_045336

Experimental info

Sequence conflict121V → F in AAK57555. Ref.1

Sequences

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

Last modified April 13, 2004. Version 2.
Checksum: FB77990F4D7B3A58

FASTA77386,455
        10         20         30         40         50         60 
MFSLSSTVQP QVTVPLSHLI NAFHTPKNTS VSLSGVSVSQ NQHRDVVPEH EAPSSECMFS 

        70         80         90        100        110        120 
DFLTKLNIVS IGKGKIFEGY RSMFMEPAKR MKKSLDTTDN WHIRPEPFSL SIPPSLNLRD 

       130        140        150        160        170        180 
LGLSELKIGQ IDQLVENLLP GFCKGKNISS HWHTSHVSAQ SFFENKYGNL DIFSTLRSSC 

       190        200        210        220        230        240 
LYRHHSRALQ SICSDLQYWP VFIQSRGFKT LKSRTRRLQS TSERLAETQN IAPSFVKGFL 

       250        260        270        280        290        300 
LRDRGSDVES LDKLMKTKNI PEAHQDAFKT GFAEGFLKAQ ALTQKTNDSL RRTRLILFVL 

       310        320        330        340        350        360 
LLFGIYGLLK NPFLSVRFRT TTGLDSAVDP VQMKNVTFEH VKGVEEAKQE LQEVVEFLKN 

       370        380        390        400        410        420 
PQKFTILGGK LPKGILLVGP PGTGKTLLAR AVAGEADVPF YYASGSEFDE MFVGVGASRI 

       430        440        450        460        470        480 
RNLFREAKAN APCVIFIDEL DSVGGKRIES PMHPYSRQTI NQLLAEMDGF KPNEGVIIIG 

       490        500        510        520        530        540 
ATNFPEALDN ALIRPGRFDM QVTVPRPDVK GRTEILKWYL NKIKFDQSVD PEIIARGTVG 

       550        560        570        580        590        600 
FSGAELENLV NQAALKAAVD GKEMVTMKEL EFSKDKILMG PERRSVEIDN KNKTITAYHE 

       610        620        630        640        650        660 
SGHAIIAYYT KDAMPINKAT IMPRGPTLGH VSLLPENDRW NETRAQLLAQ MDVSMGGRVA 

       670        680        690        700        710        720 
EELIFGTDHI TTGASSDFDN ATKIAKRMVT KFGMSEKLGV MTYSDTGKLS PETQSAIEQE 

       730        740        750        760        770 
IRILLRDSYE RAKHILKTHA KEHKNLAEAL LTYETLDAKE IQIVLEGKKL EVR 

« Hide

Isoform 2 [UniParc].

Checksum: 17828316886DF7C5
Show »

FASTA71679,832
Isoform 3 [UniParc].

Checksum: 8A037ED99ED7D2E3
Show »

FASTA68375,982

References

« Hide 'large scale' references
[1]"Human ATP-dependent metalloprotease (FtsH1) homolog mRNA."
Miyata T., Inagi R., Yasuda Y., Kurokawa K.
Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Identification and characterization of YME1L1, a novel paraplegin-related gene."
Coppola M., Pizzigoni A., Banfi S., Bassi M.T., Casari G., Incerti B.
Genomics 66:48-54(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), SUBCELLULAR LOCATION.
Tissue: Fetal brain.
[3]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[4]"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] (ISOFORM 3).
[5]"The DNA sequence and comparative analysis of human chromosome 10."
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. expand/collapse author list , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]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. expand/collapse author list , 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].
[7]"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] (ISOFORM 2).
Tissue: Muscle and Placenta.
[8]"Metalloprotease-mediated OPA1 processing is modulated by the mitochondrial membrane potential."
Guillery O., Malka F., Landes T., Guillou E., Blackstone C., Lombes A., Belenguer P., Arnoult D., Rojo M.
Biol. Cell 100:315-325(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION IN PROCESSING OF OPA1.
[9]"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].
[10]"YME1L controls the accumulation of respiratory chain subunits and is required for apoptotic resistance, cristae morphogenesis and cell proliferation."
Stiburek L., Cesnekova J., Kostkova O., Fornuskova D., Vinsova K., Wenchich L., Houstek J., Zeman J.
Mol. Biol. Cell 23:1010-1023(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, FUNCTION, SUBUNIT, MUTAGENESIS (ISOFORM 2).
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF151782 mRNA. Translation: AAK57555.1.
AJ132637 mRNA. Translation: CAB51858.1.
AY358484 mRNA. Translation: AAQ88848.1.
AK297973 mRNA. Translation: BAG60283.1.
AL162272 Genomic DNA. Translation: CAC19650.2.
AL162272, AL160291 Genomic DNA. Translation: CAI12217.1.
AL160291, AL162272 Genomic DNA. Translation: CAI16906.1.
AL160291, AL162272 Genomic DNA. Translation: CAI16907.1.
CH471072 Genomic DNA. Translation: EAW86068.1.
CH471072 Genomic DNA. Translation: EAW86069.1.
CH471072 Genomic DNA. Translation: EAW86070.1.
CH471072 Genomic DNA. Translation: EAW86071.1.
CH471072 Genomic DNA. Translation: EAW86072.1.
BC023507 mRNA. Translation: AAH23507.1.
BC024032 mRNA. Translation: AAH24032.1.
CCDSCCDS58072.1. [Q96TA2-3]
CCDS7151.1. [Q96TA2-2]
CCDS7152.1. [Q96TA2-1]
RefSeqNP_001240795.1. NM_001253866.1. [Q96TA2-3]
NP_055078.1. NM_014263.3. [Q96TA2-2]
NP_647473.1. NM_139312.2. [Q96TA2-1]
UniGeneHs.499145.
Hs.74647.

3D structure databases

ProteinModelPortalQ96TA2.
SMRQ96TA2. Positions 334-765.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115954. 19 interactions.
IntActQ96TA2. 11 interactions.
MINTMINT-3058738.
STRING9606.ENSP00000318480.

Protein family/group databases

MEROPSM41.026.

PTM databases

PhosphoSiteQ96TA2.

Polymorphism databases

DMDM46397258.

Proteomic databases

MaxQBQ96TA2.
PaxDbQ96TA2.
PRIDEQ96TA2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000326799; ENSP00000318480; ENSG00000136758. [Q96TA2-1]
ENST00000375972; ENSP00000365139; ENSG00000136758. [Q96TA2-3]
ENST00000376016; ENSP00000365184; ENSG00000136758. [Q96TA2-2]
GeneID10730.
KEGGhsa:10730.
UCSCuc001iti.3. human. [Q96TA2-1]
uc001itj.3. human. [Q96TA2-2]
uc010qdl.2. human.

Organism-specific databases

CTD10730.
GeneCardsGC10M027439.
H-InvDBHIX0127242.
HGNCHGNC:12843. YME1L1.
MIM607472. gene.
neXtProtNX_Q96TA2.
PharmGKBPA37434.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0465.
HOGENOMHOG000217276.
HOVERGENHBG057127.
InParanoidQ96TA2.
KOK08955.
OMAWHTSHVS.
OrthoDBEOG7BP824.
PhylomeDBQ96TA2.
TreeFamTF105005.

Gene expression databases

ArrayExpressQ96TA2.
BgeeQ96TA2.
CleanExHS_YME1L1.
GenevestigatorQ96TA2.

Family and domain databases

Gene3D3.40.50.300. 1 hit.
HAMAPMF_01458. FtsH.
InterProIPR003593. AAA+_ATPase.
IPR003959. ATPase_AAA_core.
IPR003960. ATPase_AAA_CS.
IPR005936. FtsH.
IPR027417. P-loop_NTPase.
IPR000642. Peptidase_M41.
[Graphical view]
PfamPF00004. AAA. 1 hit.
PF01434. Peptidase_M41. 1 hit.
[Graphical view]
SMARTSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
TIGRFAMsTIGR01241. FtsH_fam. 1 hit.
PROSITEPS00674. AAA. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSYME1L1. human.
GeneWikiYME1L1.
GenomeRNAi10730.
NextBio40734.
PROQ96TA2.
SOURCESearch...

Entry information

Entry nameYMEL1_HUMAN
AccessionPrimary (citable) accession number: Q96TA2
Secondary accession number(s): B4DNM1 expand/collapse secondary AC list , D3DRV8, D3DRV9, Q5T8D9, Q9H1Q0, Q9UMR9
Entry history
Integrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: April 13, 2004
Last modified: July 9, 2014
This is version 125 of the entry and version 2 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

Peptidase families

Classification of peptidase families and list of entries

MIM cross-references

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

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM