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

Gene ID: 84833, updated on 27-Nov-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 proton-transporting ATP synthase complex. Implicated in mitochondrial complex V (ATP synthase) deficiency nuclear type 6. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in heart (RPKM 49.0), colon (RPKM 44.8) and 25 other tissues See more
Orthologs
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (103389050..103396475, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (104276349..104283775, complement)
RS_2024_09 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. 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
  3. 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
  4. 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
  5. 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

See all (83) 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)

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 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in mitochondrion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
part_of proton-transporting ATP synthase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of proton-transporting ATP synthase complex IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 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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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_2024_08

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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