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    ATP5MK ATP synthase membrane subunit k [ Homo sapiens (human) ]

    Gene ID: 84833, updated on 17-Jun-2024

    Summary

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    Official Symbol
    ATP5MKprovided by HGNC
    Official Full Name
    ATP synthase membrane subunit kprovided by HGNC
    Primary source
    HGNC:HGNC:30889
    See related
    Ensembl:ENSG00000173915 MIM:615204; AllianceGenome:HGNC:30889
    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
    AGP; DAPIT; USMG5; ATP5MD; MC5DN6; HCVFTP2; bA792D24.4
    Summary
    Located in mitochondrion. Part of mitochondrial proton-transporting ATP synthase complex. Implicated in mitochondrial complex V (ATP synthase) deficiency nuclear type 6. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in heart (RPKM 49.0), colon (RPKM 44.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ATP5MK in Genome Data Viewer
    Location:
    10q24.33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (103389050..103396475, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (104276349..104283775, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (105148807..105156232, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105037310-105037914 Neighboring gene internexin neuronal intermediate filament protein alpha Neighboring gene polycomb group ring finger 6 Neighboring gene RNA, U11 small nuclear 3, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105110125-105110630 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2778 Neighboring gene NANOG hESC enhancer GRCh37_chr10:105114252-105114806 Neighboring gene Sharpr-MPRA regulatory region 5935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2779 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3957 Neighboring gene TATA-box binding protein associated factor 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105155495-105156327 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105156867-105157368 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105157369-105157869 Neighboring gene microRNA 1307 Neighboring gene programmed cell death 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105211118-105211738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105211739-105212360 Neighboring gene calcium homeostasis modulator family member 2

    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
    • 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. DAPIT Over-Expression Modulates Glucose Metabolism and Cell Behaviour in HEK293T Cells. Kontro H, et al. PLoS One, 2015. PMID 26161955, Free PMC Article
    2. Knockdown of DAPIT (diabetes-associated protein in insulin-sensitive tissue) results in loss of ATP synthase in mitochondria. Ohsakaya S, et al. J Biol Chem, 2011 Jun 10. PMID 21345788, Free PMC Article
    3. Study of transactivating effect of pre-S2 protein of hepatitis B virus and cloning of genes transactivated by pre-S2 protein with suppression subtractive hybridization. Ji D, et al. World J Gastroenterol, 2005 Sep 21. PMID 16222733, Free PMC Article
    4. 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
    5. Cellular and tissue expression of DAPIT, a phylogenetically conserved peptide. Kontro H, et al. Eur J Histochem, 2012 May 22. PMID 22688299, Free PMC Article

    See all (67) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. To determine whether USMG5 is related to the development of heart failure, authors performed clinical and experimental studies. Microarray analysis showed that the expression levels of USMG5 were positively correlated with those of natriuretic peptide precursor A in the human failed myocardium.
      Title: Heat Failure Phenotypes Induced by Knockdown of DAPIT in Zebrafish: A New Insight into Mechanism of Dilated Cardiomyopathy.
    2. DAPIT over-expression thus appears to modulate mitochondrial functions and alter cellular regulations, promote anaerobic metabolism and induce EMT-like transition.
      Title: DAPIT Over-Expression Modulates Glucose Metabolism and Cell Behaviour in HEK293T Cells.
    3. confirm the mitochondrial presence of DAPIT on cellular level. We also show that DAPIT is localized in lysosomes of HUVEC and HEK 293T cells
      Title: Cellular and tissue expression of DAPIT, a phylogenetically conserved peptide.
    4. a critical role of DAPIT in maintaining the ATP synthase population in mitochondria and raise an intriguing possibility of active role of DAPIT in cellular energy metabolism.
      Title: Knockdown of DAPIT (diabetes-associated protein in insulin-sensitive tissue) results in loss of ATP synthase in mitochondria.
    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

    Associated conditions

    Description Tests
    Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6
    MedGen: C5231461 OMIM: 618683 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog

    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

    Clone Names

    • MGC14697, DKFZp566D211

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in proton motive force-driven ATP synthesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of mitochondrial proton-transporting ATP synthase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of mitochondrial proton-transporting ATP synthase complex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    part_of mitochondrial proton-transporting ATP synthase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of mitochondrial proton-transporting ATP synthase complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ATP synthase membrane subunit K, mitochondrial
    Names
    ATP synthase membrane subunit DAPIT, mitochondrial
    Diabetes Associated Protein in Insulin-sensitive Tissues
    HCV F-transactivated protein 2
    diabetes-associated protein in insulin-sensitive tissues
    up-regulated during skeletal muscle growth 5 homolog
    up-regulated during skeletal muscle growth protein 5
    upregulated during skeletal muscle growth 5 homolog

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001206426.2 → NP_001193355.1  ATP synthase membrane subunit K, mitochondrial

      See identical proteins and their annotated locations for NP_001193355.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) is a predominant transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AJ272056, AL110185
      Consensus CDS
      CCDS7548.1
      UniProtKB/Swiss-Prot
      B2R4N2, D3DR92, Q96IX5
      Related
      ENSP00000311245.3, ENST00000309579.7
      Conserved Domains (1) summary
      pfam14960
      Location:1 → 51
      ATP_synth_reg; ATP synthase regulation

    2. NM_001206427.2 → NP_001193356.1  ATP synthase membrane subunit K, mitochondrial

      See identical proteins and their annotated locations for NP_001193356.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an additional exon in the 5' UTR and encodes the same protein, compared to variant 1.
      Source sequence(s)
      AL110185, CN367000, DW446355
      Consensus CDS
      CCDS7548.1
      UniProtKB/Swiss-Prot
      B2R4N2, D3DR92, Q96IX5
      Related
      ENSP00000358830.1, ENST00000369815.6
      Conserved Domains (1) summary
      pfam14960
      Location:1 → 51
      ATP_synth_reg; ATP synthase regulation

    3. NM_032747.4 → NP_116136.1  ATP synthase membrane subunit K, mitochondrial

      See identical proteins and their annotated locations for NP_116136.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an additional exon in the 5' UTR and encodes the same protein, compared to variant 1.
      Source sequence(s)
      AI479343, BC007087, DW446355
      Consensus CDS
      CCDS7548.1
      UniProtKB/Swiss-Prot
      B2R4N2, D3DR92, Q96IX5
      Related
      ENSP00000337705.4, ENST00000337003.4
      Conserved Domains (1) summary
      pfam14960
      Location:1 → 51
      ATP_synth_reg; ATP synthase regulation

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      103389050..103396475 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024448237.2 → XP_024304005.1  ATP synthase membrane subunit K, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B2R4N2, D3DR92, Q96IX5
      Related
      ENSP00000358840.1, ENST00000369825.6
      Conserved Domains (1) summary
      pfam14960
      Location:1 → 51
      ATP_synth_reg; ATP synthase regulation

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      104276349..104283775 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366999.1 → XP_054222974.1  ATP synthase membrane subunit K, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B2R4N2, D3DR92, Q96IX5
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96IX5.1 GenPept UniProtKB/Swiss-Prot:Q96IX5

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