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Protein

ATP-dependent zinc metalloprotease YME1L1

Gene

YME1L1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

ATP-dependent metalloprotease that catalyzes the degradation of folded and unfolded proteins with a suitable degron sequence in the mitochondrial intermembrane region (PubMed:26923599, PubMed:27786171). Plays an important role in regulating mitochondrial morphology and function by cleaving OPA1 at position S2, giving rise to a form of OPA1 that promotes maintenance of normal mitochondrial structure and mitochondrial protein metabolism (PubMed:18076378, PubMed:26923599, PubMed:27495975). 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 (PubMed:22262461). Required for normal, constitutive degradation of PRELID1 (PubMed:27495975). Catalyzes the degradation of OMA1 in response to membrane depolarization (PubMed:26923599). Required to control the accumulation of nonassembled respiratory chain subunits (NDUFB6, OX4 and ND1) (PubMed:22262461).5 Publications

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Zn2+1 PublicationNote: Binds 1 zinc ion per subunit.1 Publication

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=1.4 mM for ATP1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi599Zinc; catalyticBy similarity1
    <p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei600By similarity1
    Metal bindingi603Zinc; catalyticBy similarity1
    Metal bindingi677Zinc; catalyticBy similarity1

    Regions

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi379 – 386ATPSequence analysis8

    <p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

    GO - Biological processi

    <p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

    Molecular functionHydrolase, Metalloprotease, Protease
    LigandATP-binding, Metal-binding, Nucleotide-binding, Zinc

    Enzyme and pathway databases

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-8949664 Processing of SMDT1

    Protein family/group databases

    MEROPS protease database

    More...
    MEROPSi
    M41.026

    <p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
    Recommended name:
    ATP-dependent zinc metalloprotease YME1L1 (EC:3.4.24.-3 Publications)
    Alternative name(s):
    ATP-dependent metalloprotease FtsH1
    Meg-4
    Presenilin-associated metalloprotease
    Short name:
    PAMP
    YME1-like protein 1
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
    Name:YME1L1
    Synonyms:FTSH1, YME1L
    ORF Names:UNQ1868/PRO4304
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
    • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000136758.18

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:12843 YME1L1

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    607472 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q96TA2

    <p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 295Mitochondrial matrixSequence analysisAdd BLAST295
    <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei296 – 316HelicalSequence analysisAdd BLAST21
    Topological domaini317 – 773Mitochondrial intermembrane1 PublicationAdd BLAST457

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    <p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

    <p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

    Optic atrophy 11 (OPA11)1 Publication
    The disease may be caused by mutations affecting the gene represented in this entry.
    Disease descriptionAn autosomal recessive disease characterized by 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. OPA11 patients also manifest delayed psychomotor development, intellectual disability, ataxia, and leukoencephalopathy on brain imaging.
    See also OMIM:617302
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_076869206R → W in OPA11; does not affect localization to mitochondria; abolishes processing to mature form by MPP; results in decreased mitochondrial protein catabolism; has very low protease activity; results in mitochondrial fragmentation. 1 PublicationCorresponds to variant dbSNP:rs1057519312Ensembl.1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi439E → Q: Loss of ATPase and protease activity. Loss of PRELID1 degradation. Cannot restore OMA1 degradation in YME1L-depleted cells. 3 Publications1
    Mutagenesisi600E → Q: Loss of protease activity. Cannot restore OMA1 degradation in YME1L-depleted cells. 1 Publication1

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    10730

    MalaCards human disease database

    More...
    MalaCardsi
    YME1L1
    MIMi617302 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000136758

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA37434

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    YME1L1

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    46397258

    <p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000846671 – 773ATP-dependent zinc metalloprotease YME1L1Add BLAST773

    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

    Proteolytically processed by mitochondrial processing peptidase (MPP) to generate the mature form.1 Publication

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    Q96TA2

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    Q96TA2

    PaxDb, a database of protein abundance averages across all three domains of life

    More...
    PaxDbi
    Q96TA2

    PeptideAtlas

    More...
    PeptideAtlasi
    Q96TA2

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q96TA2

    ProteomicsDB human proteome resource

    More...
    ProteomicsDBi
    78222
    78223 [Q96TA2-2]

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q96TA2

    Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

    More...
    PhosphoSitePlusi
    Q96TA2

    <p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

    <p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

    High expression in cardiac and skeletal muscle mitochondria.1 Publication

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000136758 Expressed in 238 organ(s), highest expression level in endometrium

    CleanEx database of gene expression profiles

    More...
    CleanExi
    HS_YME1L1

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q96TA2 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q96TA2 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA066953

    <p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

    <p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Homohexamer; may also form heterohexamers (PubMed:27786171). Exists in several complexes of 600-1100 kDa (PubMed:22262461, PubMed:27495975). Interacts with AFG1L (PubMed:26759378).4 Publications

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    115954, 50 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    Q96TA2, 56 interactors

    Molecular INTeraction database

    More...
    MINTi
    Q96TA2

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000318480

    <p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

    3D structure databases

    Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

    More...
    ProteinModelPortali
    Q96TA2

    SWISS-MODEL Repository - a database of annotated 3D protein structure models

    More...
    SMRi
    Q96TA2

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    Search...

    <p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

    <p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

    In the N-terminal section; belongs to the AAA ATPase family.Curated
    In the C-terminal section; belongs to the peptidase M41 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG0734 Eukaryota
    COG0465 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00550000074836

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000217276

    The HOVERGEN Database of Homologous Vertebrate Genes

    More...
    HOVERGENi
    HBG057127

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q96TA2

    KEGG Orthology (KO)

    More...
    KOi
    K08955

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    CLYRQHS

    Database of Orthologous Groups

    More...
    OrthoDBi
    EOG091G02Y9

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q96TA2

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF105005

    Family and domain databases

    HAMAP database of protein families

    More...
    HAMAPi
    MF_01458 FtsH, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR003593 AAA+_ATPase
    IPR003959 ATPase_AAA_core
    IPR003960 ATPase_AAA_CS
    IPR005936 FtsH
    IPR027417 P-loop_NTPase
    IPR000642 Peptidase_M41
    IPR037219 Peptidase_M41-like

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF00004 AAA, 1 hit
    PF01434 Peptidase_M41, 1 hit

    Simple Modular Architecture Research Tool; a protein domain database

    More...
    SMARTi
    View protein in SMART
    SM00382 AAA, 1 hit

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF140990 SSF140990, 1 hit
    SSF52540 SSF52540, 1 hit

    TIGRFAMs; a protein family database

    More...
    TIGRFAMsi
    TIGR01241 FtsH_fam, 1 hit

    PROSITE; a protein domain and family database

    More...
    PROSITEi
    View protein in PROSITE
    PS00674 AAA, 1 hit

    <p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

    This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q96TA2-1) [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
    MFSLSSTVQP QVTVPLSHLI NAFHTPKNTS VSLSGVSVSQ NQHRDVVPEH
    60 70 80 90 100
    EAPSSECMFS DFLTKLNIVS IGKGKIFEGY RSMFMEPAKR MKKSLDTTDN
    110 120 130 140 150
    WHIRPEPFSL SIPPSLNLRD LGLSELKIGQ IDQLVENLLP GFCKGKNISS
    160 170 180 190 200
    HWHTSHVSAQ SFFENKYGNL DIFSTLRSSC LYRHHSRALQ SICSDLQYWP
    210 220 230 240 250
    VFIQSRGFKT LKSRTRRLQS TSERLAETQN IAPSFVKGFL LRDRGSDVES
    260 270 280 290 300
    LDKLMKTKNI PEAHQDAFKT GFAEGFLKAQ ALTQKTNDSL RRTRLILFVL
    310 320 330 340 350
    LLFGIYGLLK NPFLSVRFRT TTGLDSAVDP VQMKNVTFEH VKGVEEAKQE
    360 370 380 390 400
    LQEVVEFLKN PQKFTILGGK LPKGILLVGP PGTGKTLLAR AVAGEADVPF
    410 420 430 440 450
    YYASGSEFDE MFVGVGASRI RNLFREAKAN APCVIFIDEL DSVGGKRIES
    460 470 480 490 500
    PMHPYSRQTI NQLLAEMDGF KPNEGVIIIG ATNFPEALDN ALIRPGRFDM
    510 520 530 540 550
    QVTVPRPDVK GRTEILKWYL NKIKFDQSVD PEIIARGTVG FSGAELENLV
    560 570 580 590 600
    NQAALKAAVD GKEMVTMKEL EFSKDKILMG PERRSVEIDN KNKTITAYHE
    610 620 630 640 650
    SGHAIIAYYT KDAMPINKAT IMPRGPTLGH VSLLPENDRW NETRAQLLAQ
    660 670 680 690 700
    MDVSMGGRVA EELIFGTDHI TTGASSDFDN ATKIAKRMVT KFGMSEKLGV
    710 720 730 740 750
    MTYSDTGKLS PETQSAIEQE IRILLRDSYE RAKHILKTHA KEHKNLAEAL
    760 770
    LTYETLDAKE IQIVLEGKKL EVR
    Length:773
    Mass (Da):86,455
    Last modified:April 13, 2004 - v2
    <p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iFB77990F4D7B3A58
    GO
    Isoform 2 (identifier: Q96TA2-2) [UniParc]FASTAAdd to basket

    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.
    Show »
    Length:716
    Mass (Da):79,832
    Checksum:i17828316886DF7C5
    GO
    Isoform 3 (identifier: Q96TA2-3) [UniParc]FASTAAdd to basket

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

    Show »
    Length:683
    Mass (Da):75,982
    Checksum:i8A037ED99ED7D2E3
    GO

    <p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

    There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    Q96I63Q96I63_HUMAN
    ATP-dependent zinc metalloprotease ...
    YME1L1
    740Annotation score:

    Annotation score:2 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    R4GNA5R4GNA5_HUMAN
    ATP-dependent zinc metalloprotease ...
    YME1L1
    243Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    Q5T8D2Q5T8D2_HUMAN
    ATP-dependent zinc metalloprotease ...
    YME1L1
    248Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    Q5T8D1Q5T8D1_HUMAN
    ATP-dependent zinc metalloprotease ...
    YME1L1
    253Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    Q6PJ89Q6PJ89_HUMAN
    ATP-dependent zinc metalloprotease ...
    YME1L1
    136Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti12V → F in AAK57555 (Ref. 1) Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_076869206R → W in OPA11; does not affect localization to mitochondria; abolishes processing to mature form by MPP; results in decreased mitochondrial protein catabolism; has very low protease activity; results in mitochondrial fragmentation. 1 PublicationCorresponds to variant dbSNP:rs1057519312Ensembl.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_01001757 – 113Missing in isoform 2 and isoform 3. 4 PublicationsAdd BLAST57
    Alternative sequenceiVSP_045336168 – 200Missing in isoform 3. 1 PublicationAdd BLAST33

    Sequence databases

    Select the link destinations:

    EMBL nucleotide sequence database

    More...
    EMBLi

    GenBank nucleotide sequence database

    More...
    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...
    DDBJi
    Links Updated
    AF151782 mRNA Translation: AAK57555.1
    AJ132637 mRNA Translation: CAB51858.1
    AY358484 mRNA Translation: AAQ88848.1
    AK297973 mRNA Translation: BAG60283.1
    AL162272 Genomic DNA No translation available.
    AL160291 Genomic DNA No translation available.
    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

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS58072.1 [Q96TA2-3]
    CCDS7151.1 [Q96TA2-2]
    CCDS7152.1 [Q96TA2-1]

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_001240795.1, NM_001253866.1 [Q96TA2-3]
    NP_055078.1, NM_014263.3 [Q96TA2-2]
    NP_647473.1, NM_139312.2 [Q96TA2-1]

    UniGene gene-oriented nucleotide sequence clusters

    More...
    UniGenei
    Hs.499145
    Hs.74647

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000326799; ENSP00000318480; ENSG00000136758 [Q96TA2-1]
    ENST00000376016; ENSP00000365184; ENSG00000136758 [Q96TA2-2]
    ENST00000613434; ENSP00000481724; ENSG00000136758 [Q96TA2-3]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    10730

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:10730

    UCSC genome browser

    More...
    UCSCi
    uc001iti.4 human [Q96TA2-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    <p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

    <p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AF151782 mRNA Translation: AAK57555.1
    AJ132637 mRNA Translation: CAB51858.1
    AY358484 mRNA Translation: AAQ88848.1
    AK297973 mRNA Translation: BAG60283.1
    AL162272 Genomic DNA No translation available.
    AL160291 Genomic DNA No translation available.
    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
    CCDSiCCDS58072.1 [Q96TA2-3]
    CCDS7151.1 [Q96TA2-2]
    CCDS7152.1 [Q96TA2-1]
    RefSeqiNP_001240795.1, NM_001253866.1 [Q96TA2-3]
    NP_055078.1, NM_014263.3 [Q96TA2-2]
    NP_647473.1, NM_139312.2 [Q96TA2-1]
    UniGeneiHs.499145
    Hs.74647

    3D structure databases

    ProteinModelPortaliQ96TA2
    SMRiQ96TA2
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi115954, 50 interactors
    IntActiQ96TA2, 56 interactors
    MINTiQ96TA2
    STRINGi9606.ENSP00000318480

    Protein family/group databases

    MEROPSiM41.026

    PTM databases

    iPTMnetiQ96TA2
    PhosphoSitePlusiQ96TA2

    Polymorphism and mutation databases

    BioMutaiYME1L1
    DMDMi46397258

    Proteomic databases

    EPDiQ96TA2
    MaxQBiQ96TA2
    PaxDbiQ96TA2
    PeptideAtlasiQ96TA2
    PRIDEiQ96TA2
    ProteomicsDBi78222
    78223 [Q96TA2-2]

    Protocols and materials databases

    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000326799; ENSP00000318480; ENSG00000136758 [Q96TA2-1]
    ENST00000376016; ENSP00000365184; ENSG00000136758 [Q96TA2-2]
    ENST00000613434; ENSP00000481724; ENSG00000136758 [Q96TA2-3]
    GeneIDi10730
    KEGGihsa:10730
    UCSCiuc001iti.4 human [Q96TA2-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    10730
    DisGeNETi10730
    EuPathDBiHostDB:ENSG00000136758.18

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    YME1L1

    H-Invitational Database, human transcriptome db

    More...
    H-InvDBi
    HIX0127242
    HGNCiHGNC:12843 YME1L1
    HPAiHPA066953
    MalaCardsiYME1L1
    MIMi607472 gene
    617302 phenotype
    neXtProtiNX_Q96TA2
    OpenTargetsiENSG00000136758
    PharmGKBiPA37434

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG0734 Eukaryota
    COG0465 LUCA
    GeneTreeiENSGT00550000074836
    HOGENOMiHOG000217276
    HOVERGENiHBG057127
    InParanoidiQ96TA2
    KOiK08955
    OMAiCLYRQHS
    OrthoDBiEOG091G02Y9
    PhylomeDBiQ96TA2
    TreeFamiTF105005

    Enzyme and pathway databases

    ReactomeiR-HSA-8949664 Processing of SMDT1

    Miscellaneous databases

    ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

    More...
    ChiTaRSi
    YME1L1 human

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    YME1L1

    Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

    More...
    GenomeRNAii
    10730

    Protein Ontology

    More...
    PROi
    PR:Q96TA2

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000136758 Expressed in 238 organ(s), highest expression level in endometrium
    CleanExiHS_YME1L1
    ExpressionAtlasiQ96TA2 baseline and differential
    GenevisibleiQ96TA2 HS

    Family and domain databases

    HAMAPiMF_01458 FtsH, 1 hit
    InterProiView protein in InterPro
    IPR003593 AAA+_ATPase
    IPR003959 ATPase_AAA_core
    IPR003960 ATPase_AAA_CS
    IPR005936 FtsH
    IPR027417 P-loop_NTPase
    IPR000642 Peptidase_M41
    IPR037219 Peptidase_M41-like
    PfamiView protein in Pfam
    PF00004 AAA, 1 hit
    PF01434 Peptidase_M41, 1 hit
    SMARTiView protein in SMART
    SM00382 AAA, 1 hit
    SUPFAMiSSF140990 SSF140990, 1 hit
    SSF52540 SSF52540, 1 hit
    TIGRFAMsiTIGR01241 FtsH_fam, 1 hit
    PROSITEiView protein in PROSITE
    PS00674 AAA, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    Search...

    <p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

    <p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiYMEL1_HUMAN
    <p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96TA2
    Secondary accession number(s): B4DNM1
    , D3DRV8, D3DRV9, Q5T8D9, Q9H1Q0, Q9UMR9
    <p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 13, 2004
    Last sequence update: April 13, 2004
    Last modified: December 5, 2018
    This is version 166 of the entry and version 2 of the sequence. See complete history.
    <p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

    <p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. SIMILARITY comments
      Index of protein domains and families
    2. Human chromosome 10
      Human chromosome 10: entries, gene names and cross-references to MIM
    3. Peptidase families
      Classification of peptidase families and list of entries
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    6. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    UniProt is an ELIXIR core data resource
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