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

Gene ID: 84833, updated on 23-Nov-2021

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
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
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

See ATP5MK in Genome Data Viewer
Location:
10q24.33
Exon count:
6
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (103389050..103396505, complement)
105.20201022 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 polycomb group ring finger 6 Neighboring gene RNA, U11 small nuclear 3, pseudogene Neighboring gene Sharpr-MPRA regulatory region 5935 Neighboring gene TATA-box binding protein associated factor 5 Neighboring gene microRNA 1307 Neighboring gene programmed cell death 11 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
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
GeneReviews: Not available
Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6
MedGen: C5231461 OMIM: 618683 GeneReviews: Not available
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Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC14697, DKFZp566D211

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
part_of mitochondrial proton-transporting ATP synthase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 
located_in mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 

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)

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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_001206426.2NP_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
    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
    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
    Q96IX5
    Related
    ENSP00000337705.4, ENST00000337003.4
    Conserved Domains (1) summary
    pfam14960
    Location:151
    ATP_synth_reg; ATP synthase regulation

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    103389050..103396505 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Related
    ENSP00000358840.1, ENST00000369825.6
    Conserved Domains (1) summary
    pfam14960
    Location:151
    ATP_synth_reg; ATP synthase regulation
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