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

Summary

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: mouse all
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Genomic context

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.

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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 EBI GWAS CatalogPubMed
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH78847 (e-PCR)
- UniSTS:66201

RH47040 (e-PCR)
- UniSTS:73400

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 more info	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)

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
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
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

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

103389050..103396475 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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