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    YME1L1 YME1 like 1 ATPase [ Homo sapiens (human) ]

    Gene ID: 10730, updated on 8-Apr-2018
    Official Symbol
    YME1L1provided by HGNC
    Official Full Name
    YME1 like 1 ATPaseprovided by HGNC
    Primary source
    HGNC:HGNC:12843
    See related
    Ensembl:ENSG00000136758 MIM:607472; Vega:OTTHUMG00000017853
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FTSH; MEG4; PAMP; OPA11; YME1L
    Summary
    The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
    Expression
    Ubiquitous expression in thyroid (RPKM 32.8), testis (RPKM 26.7) and 25 other tissues See more
    Orthologs
    Location:
    10p12.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (27110111..27155051, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (27399040..27443349, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 238 member C (non-protein coding) Neighboring gene ankyrin repeat domain 26 Neighboring gene RNA, U6 small nuclear 490, pseudogene Neighboring gene microtubule associated serine/threonine kinase like Neighboring gene RNA, U2 small nuclear 24, pseudogene Neighboring gene acyl-CoA binding domain containing 5 Neighboring gene RNA, U7 small nuclear 12 pseudogene

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATP-dependent peptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    ATP-dependent peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATP-dependent peptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    metalloendopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    metallopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrial calcium ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    mitochondrial protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrial protein processing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrion organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein hexamerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein quality control for misfolded or incompletely synthesized proteins IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein quality control for misfolded or incompletely synthesized proteins IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane HDA PubMed 
    mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear body IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    ATP-dependent zinc metalloprotease YME1L1
    Names
    ATP-dependent metalloprotease FtsH1 homolog
    YME1-like protein 1
    meg-4
    presenilin-associated metalloprotease

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_047122.1 RefSeqGene

      Range
      5859..50168
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001253866.1NP_001240795.1  ATP-dependent zinc metalloprotease YME1L1 isoform 4

      See identical proteins and their annotated locations for NP_001240795.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AI042625, AJ132637, AK297973, AL162272, DA395557
      Consensus CDS
      CCDS58072.1
      UniProtKB/Swiss-Prot
      Q96TA2
      Related
      ENSP00000481724.1, ENST00000613434.4
      Conserved Domains (1) summary
      cl27568
      Location:243676
      TIP49; TIP49 C-terminus
    2. NM_014263.3NP_055078.1  ATP-dependent zinc metalloprotease YME1L1 isoform 3

      See identical proteins and their annotated locations for NP_055078.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal coding exon compared to transcript variant 1. However, it maintains the same reading frame, and encodes an isoform (3) that is missing a 57 aa segment compared to isoform 1.
      Source sequence(s)
      AI042625, AJ132637, AL162272, DA395557
      Consensus CDS
      CCDS7151.1
      UniProtKB/Swiss-Prot
      Q96TA2
      Related
      ENSP00000365184.3, OTTHUMP00000019360, ENST00000376016.7, OTTHUMT00000047305
      Conserved Domains (1) summary
      cl27568
      Location:276709
      TIP49; TIP49 C-terminus
    3. NM_139312.2NP_647473.1  ATP-dependent zinc metalloprotease YME1L1 isoform 1

      See identical proteins and their annotated locations for NP_647473.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AI042625, AJ132637, AL162272, DA395557, DA489399
      Consensus CDS
      CCDS7152.1
      UniProtKB/Swiss-Prot
      Q96TA2
      Related
      ENSP00000318480.3, OTTHUMP00000019361, ENST00000326799.7, OTTHUMT00000047306
      Conserved Domains (4) summary
      TIGR01241
      Location:333766
      FtsH_fam; ATP-dependent metalloprotease FtsH
      pfam00004
      Location:375506
      AAA; ATPase family associated with various cellular activities (AAA)
      pfam01434
      Location:586764
      Peptidase_M41; Peptidase family M41
      cl21455
      Location:331395
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

      Range
      27110111..27155051 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011519300.3XP_011517602.1  ATP-dependent zinc metalloprotease YME1L1 isoform X1

      Conserved Domains (4) summary
      TIGR01241
      Location:300733
      FtsH_fam; ATP-dependent metalloprotease FtsH
      pfam00004
      Location:342473
      AAA; ATPase family associated with various cellular activities (AAA)
      pfam01434
      Location:553731
      Peptidase_M41; Peptidase family M41
      cl21455
      Location:298362
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_139313.1: Suppressed sequence

      Description
      NM_139313.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
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