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

Gene ID: 9556, updated on 5-Aug-2022

Summary

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
Predicted to be located in mitochondrion. Predicted to be integral component of membrane. Predicted to be part of mitochondrial proton-transporting ATP synthase complex. [provided by Alliance of Genome Resources, Apr 2022]
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

See ATP5MJ in Genome Data Viewer
Location:
14q32.33
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (103912288..103921529, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (98149583..98158840, complement)
105.20220307 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 PPP1R13B divergent transcript Neighboring gene uncharacterized LOC105370689 Neighboring gene Sharpr-MPRA regulatory region 8463 Neighboring gene tudor domain containing 9 Neighboring gene RD3 like Neighboring gene RNA, 7SL, cytoplasmic 634, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
involved_in proton motive force-driven ATP synthesis IC
Inferred by Curator
more info
PubMed 

General protein information

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_001127393.2NP_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
    UniProtKB/Swiss-Prot
    P56378
    UniProtKB/TrEMBL
    A0A024R6N3
    Related
    ENSP00000401770.2, ENST00000414262.6
    Conserved Domains (1) summary
    pfam08039
    Location:1874
    Mit_proteolip; Mitochondrial proteolipid
  2. NM_004894.3NP_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
    P56378, Q86TT7
    Related
    ENSP00000286953.4, ENST00000286953.8
    Conserved Domains (1) summary
    pfam08039
    Location:157
    Mit_proteolip; Mitochondrial proteolipid

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)