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    ATP5MJ ATP synthase membrane subunit j [ Homo sapiens (human) ]

    Gene ID: 9556, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ATP5MJprovided by HGNC
    Official Full Name
    ATP synthase membrane subunit jprovided by HGNC
    Primary source
    HGNC:HGNC:1188
    See related
    Ensembl:ENSG00000156411 MIM:604573; AllianceGenome:HGNC:1188
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MLQ; MP68; PLPM; 6.8PL; ATP5MPL; C14orf2
    Summary
    Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in heart (RPKM 56.0), colon (RPKM 47.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ATP5MJ in Genome Data Viewer
    Location:
    14q32.33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (103912288..103921529, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (98149583..98158840, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (104378625..104387866, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 regulatory subunit 13B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6177 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6178 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6179 Neighboring gene PPP1R13B divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6180 Neighboring gene uncharacterized LOC105370689 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9113 Neighboring gene Sharpr-MPRA regulatory region 8463 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104347808-104348489 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104377123-104377623 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104387521-104388196 Neighboring gene tudor domain containing 9 Neighboring gene RD3 like Neighboring gene RNA, 7SL, cytoplasmic 634, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Population of ATP synthase molecules in mitochondria is limited by available 6.8-kDa proteolipid protein (MLQ). Fujikawa M, et al. Genes Cells, 2014 Feb. PMID 24330338
    2. USP9X deubiquitinates and stabilizes CDC123 to promote breast carcinogenesis through regulating cell cycle. Song N, et al. Mol Carcinog, 2023 Oct. PMID 37314216
    3. Organization of Subunits in the Membrane Domain of the Bovine F-ATPase Revealed by Covalent Cross-linking. Lee J, et al. J Biol Chem, 2015 May 22. PMID 25851905, Free PMC Article
    4. Binding of phosphatase inhibitor-2 to prolyl isomerase Pin1 modifies specificity for mitotic phosphoproteins. Li M, et al. Biochemistry, 2008 Jan 8. PMID 18062707
    5. Assembly of human mitochondrial ATP synthase through two separate intermediates, F1-c-ring and b-e-g complex. Fujikawa M, et al. FEBS Lett, 2015 Sep 14. PMID 26297831

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MLQ is a potential regulator of the mitochondrial ATP synthesis
      Title: Population of ATP synthase molecules in mitochondria is limited by available 6.8-kDa proteolipid protein (MLQ).
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in proton motive force-driven ATP synthesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    part_of proton-transporting ATP synthase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of proton-transporting ATP synthase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    ATP synthase subunit ATP5MJ, mitochondrial
    Names
    6.8 kDa mitochondrial proteolipid protein
    6.8-kDa proteolipid with N-terminal sequence Met-Leu-Gln (MLQ)
    ATP synthase membrane subunit 6.8PL
    ATP synthase subunit ATP5MPL, mitochondrial

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001127393.2 → NP_001120865.1  ATP synthase subunit ATP5MJ, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_001120865.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes an additonal exon containing an in-frame AUG upstream of the start site used in variant 1. The resulting predicted protein isoform (2) has a short distinct N-terminus compared to isoform 1.
      Source sequence(s)
      BC000429, CB127906, DA526965
      Consensus CDS
      CCDS45169.1
      Related
      ENSP00000401770.2, ENST00000414262.6
      Conserved Domains (1) summary
      pfam08039
      Location:18 → 74
      Mit_proteolip; Mitochondrial proteolipid

    2. NM_004894.3 → NP_004885.1  ATP synthase subunit ATP5MJ, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_004885.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the predominant isoform (1).
      Source sequence(s)
      AF054175, BC000429
      Consensus CDS
      CCDS9986.1
      UniProtKB/Swiss-Prot
      B2R588, G3V5Q3, P56378, Q86TT7
      Related
      ENSP00000286953.4, ENST00000286953.8
      Conserved Domains (1) summary
      pfam08039
      Location:1 → 57
      Mit_proteolip; Mitochondrial proteolipid

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      103912288..103921529 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      98149583..98158840 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P56378.1 GenPept UniProtKB/Swiss-Prot:P56378

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