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

    Gene ID: 84833, updated on 7-Jan-2024

    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 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
    NEW
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    Genomic context

    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

    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

    Bibliography

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    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)

    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_001206426.2NP_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:151
      ATP_synth_reg; ATP synthase regulation
    2. NM_001206427.2NP_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:151
      ATP_synth_reg; ATP synthase regulation
    3. NM_032747.4NP_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:151
      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_024448237.2XP_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:151
      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_054366999.1XP_054222974.1  ATP synthase membrane subunit K, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B2R4N2, D3DR92, Q96IX5