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

Gene ID: 9556, updated on 28-Oct-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, Oct 2024]
Expression
Ubiquitous expression in heart (RPKM 56.0), colon (RPKM 47.1) and 25 other tissues See more
Orthologs
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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. 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
  3. Binding of phosphatase inhibitor-2 to prolyl isomerase Pin1 modifies specificity for mitotic phosphoproteins. Li M, et al. Biochemistry, 2008 Jan 8. PMID 18062707
  4. 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
  5. Identification of two proteins associated with mammalian ATP synthase. Meyer B, et al. Mol Cell Proteomics, 2007 Oct. PMID 17575325

See all (26) 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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