Q96TA2 (YMEL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 114.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended 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 |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||||
| Taxonomic identifier | 9606 [NCBI] | ||||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 773 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence 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 | |
| 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. |
Ontologies
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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 773 | 773 | ATP-dependent zinc metalloprotease YME1L1 | PRO_0000084667 | |||||
Regions | |||||||||
| Topological domain | 1 – 295 | 295 | Mitochondrial matrix Potential | ||||||
| Transmembrane | 296 – 316 | 21 | Helical; Potential | ||||||
| Topological domain | 317 – 773 | 457 | Mitochondrial intermembrane Potential | ||||||
| Nucleotide binding | 379 – 386 | 8 | ATP Potential | ||||||
Sites | |||||||||
| Active site | 600 | 1 | By similarity | ||||||
| Metal binding | 599 | 1 | Zinc; catalytic By similarity | ||||||
| Metal binding | 603 | 1 | Zinc; catalytic By similarity | ||||||
| Metal binding | 677 | 1 | Zinc; catalytic By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 57 – 113 | 57 | Missing in isoform 2 and isoform 3. | VSP_010017 | |||||
| Alternative sequence | 168 – 200 | 33 | Missing in isoform 3. | VSP_045336 | |||||
Experimental info | |||||||||
| Sequence conflict | 12 | 1 | V → F in AAK57555. Ref.1 | ||||||
Sequences
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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. 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. 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. 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. 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. |
| IPI | IPI00045946. IPI00099529. |
| RefSeq | NP_001240795.1. NM_001253866.1. NP_055078.1. NM_014263.3. NP_647473.1. NM_139312.2. |
| UniGene | Hs.499145. Hs.74647. |
3D structure databases | |
| ProteinModelPortal | Q96TA2. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q96TA2. 7 interactions. |
| STRING | 9606.ENSP00000318480. |
Protein family/group databases | |
| MEROPS | M41.A20. |
PTM databases | |
| PhosphoSite | Q96TA2. |
Polymorphism databases | |
| DMDM | 46397258. |
Proteomic databases | |
| PaxDb | Q96TA2. |
| PRIDE | Q96TA2. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000326799; ENSP00000318480; ENSG00000136758. ENST00000375972; ENSP00000365139; ENSG00000136758. ENST00000376016; ENSP00000365184; ENSG00000136758. |
| GeneID | 10730. |
| KEGG | hsa:10730. |
| UCSC | uc001iti.3. human. uc001itj.3. human. |
Organism-specific databases | |
| CTD | 10730. |
| GeneCards | GC10M027439. |
| H-InvDB | HIX0127242. |
| HGNC | HGNC:12843. YME1L1. |
| MIM | 607472. gene. |
| neXtProt | NX_Q96TA2. |
| PharmGKB | PA37434. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0465. |
| HOGENOM | HOG000217276. |
| HOVERGEN | HBG057127. |
| InParanoid | Q96TA2. |
| KO | K08955. |
| OMA | HTSHVSA. |
| PhylomeDB | Q96TA2. |
Gene expression databases | |
| ArrayExpress | Q96TA2. |
| Bgee | Q96TA2. |
| CleanEx | HS_YME1L1. |
| Genevestigator | Q96TA2. |
| GermOnline | ENSG00000136758. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR003593. AAA+_ATPase. IPR003959. ATPase_AAA_core. IPR003960. ATPase_AAA_CS. IPR005936. FtsH. IPR000642. Peptidase_M41. [Graphical view] |
| Pfam | PF00004. AAA. 1 hit. PF01434. Peptidase_M41. 1 hit. [Graphical view] |
| SMART | SM00382. AAA. 1 hit. [Graphical view] |
| TIGRFAMs | TIGR01241. FtsH_fam. 1 hit. |
| PROSITE | PS00674. AAA. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | YME1L1. human. |
| GenomeRNAi | 10730. |
| NextBio | 40734. |
| SOURCE | Search... |
Entry information
| Entry name | YMEL1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96TA2 Secondary accession number(s): B4DNM1 Q9UMR9 | ||||||||
| Entry history |
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| 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. | ||||||||
Relevant documents
| Peptidase families Classification of peptidase families and list of entries |
| Human chromosome 10 Human chromosome 10: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
