Aliases for ANTKMT Gene

Aliases for ANTKMT Gene

  • Adenine Nucleotide Translocase Lysine Methyltransferase 2 3 5
  • Adenine Nucleotide Translocase Lysine N-Methyltransferase 3 4
  • Family With Sequence Similarity 173 Member A 2 3
  • C16orf24 3 4
  • ANT-KMT 3 4
  • FAM173A 3 4
  • Family With Sequence Similarity 173, Member A 2
  • Protein N-Lysine Methyltransferase FAM173A 3
  • Chromosome 16 Open Reading Frame 24 2
  • Protein FAM173A 3
  • EC 2.1.1.- 4
  • MGC2494 2
  • ANTKMT 5

External Ids for ANTKMT Gene

Previous HGNC Symbols for ANTKMT Gene

  • C16orf24
  • FAM173A

Previous GeneCards Identifiers for ANTKMT Gene

  • GC16P001140
  • GC16P001267

Summaries for ANTKMT Gene

GeneCards Summary for ANTKMT Gene

ANTKMT (Adenine Nucleotide Translocase Lysine Methyltransferase) is a Protein Coding gene. An important paralog of this gene is ATPSCKMT.

UniProtKB/Swiss-Prot Summary for ANTKMT Gene

  • Mitochondrial protein-lysine N-methyltransferase that trimethylates adenine nucleotide translocases ANT2/SLC25A5 and ANT3/SLC25A6, thereby regulating mitochondrial respiration (PubMed:31213526). Probably also trimethylates ANT1/SLC25A4 (PubMed:31213526).

Additional gene information for ANTKMT Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANTKMT Gene

Genomics for ANTKMT Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ANTKMT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J000713 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 -2.5 -2450 8.9 RNF2 SP1 ZBTB33 HNRNPL PRDM10 RFX1 SIX5 IKZF1 CTCF ZNF692 ANTKMT METRN lnc-FAM173A-1 CRAMP1 UBE2I TELO2 IFT140 WDR90 UNKL LUC7L
GH16J000723 Promoter 0.7 Ensembl 0.7 +3.3 3320 0.6 ZNF692 SCRT2 POLR2A SCRT1 PTBP1 BCOR ZFP69B CBX1 ZMYM3 KDM1A MN297336 piR-49075 CIAO3 ANTKMT CCDC78 HAGHL lnc-CCDC78-1
GH16J000727 Promoter 0.6 Ensembl 0.7 +4.6 4619 0.4 RBFOX2 POLR2A SNRNP70 ZEB1 HIC1 ZEB2 CCDC78 HAGHL MN297336 lnc-CCDC78-1 TELO2 WASH4P UNKL ENSG00000269482 ENSG00000268836 CRAMP1
GH16J000725 Enhancer 0.5 ENCODE 0.4 +5.2 5205 0.1 ZNF692 POLR2A ZEB1 ZFHX2 EGR2 GLIS2 ZEB2 CCDC78 HAGHL MN297336 lnc-CCDC78-1 ANTKMT
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANTKMT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANTKMT

Genomic Locations for ANTKMT Gene

Genomic Locations for ANTKMT Gene
chr16:720,581-722,590
(GRCh38/hg38)
Size:
2,010 bases
Orientation:
Plus strand
chr16:770,581-772,601
(GRCh37/hg19)
Size:
2,021 bases
Orientation:
Plus strand

Genomic View for ANTKMT Gene

Genes around ANTKMT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANTKMT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANTKMT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANTKMT Gene

Proteins for ANTKMT Gene

  • Protein details for ANTKMT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQD7-ANKMT_HUMAN
    Recommended name:
    Adenine nucleotide translocase lysine N-methyltransferase
    Protein Accession:
    Q9BQD7
    Secondary Accessions:
    • A2IDD4

    Protein attributes for ANTKMT Gene

    Size:
    235 amino acids
    Molecular mass:
    25130 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ANTKMT Gene

Post-translational modifications for ANTKMT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANTKMT Gene

No data available for DME Specific Peptides for ANTKMT Gene

Domains & Families for ANTKMT Gene

Gene Families for ANTKMT Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ANTKMT Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ANTKMT Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM173A (F173A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BQD7

UniProtKB/Swiss-Prot:

ANKMT_HUMAN :
  • The pre-methyltransferase (preMT) region is responsible for mitochondrial localization.
  • Belongs to the ANT/ATPSC lysine N-methyltransferase family.
Domain:
  • The pre-methyltransferase (preMT) region is responsible for mitochondrial localization.
Family:
  • Belongs to the ANT/ATPSC lysine N-methyltransferase family.
genes like me logo Genes that share domains with ANTKMT: view

Function for ANTKMT Gene

Molecular function for ANTKMT Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial protein-lysine N-methyltransferase that trimethylates adenine nucleotide translocases ANT2/SLC25A5 and ANT3/SLC25A6, thereby regulating mitochondrial respiration (PubMed:31213526). Probably also trimethylates ANT1/SLC25A4 (PubMed:31213526).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-lysyl-[protein] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl-[protein] + 3 S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:54192, Rhea:RHEA-COMP:9752, Rhea:RHEA-COMP:13826, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61961; Evidence={ECO:0000269|PubMed:31213526};.

Enzyme Numbers (IUBMB) for ANTKMT Gene

Phenotypes From GWAS Catalog for ANTKMT Gene

Gene Ontology (GO) - Molecular Function for ANTKMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008168 methyltransferase activity IEA --
GO:0016279 protein-lysine N-methyltransferase activity IEA,IDA 31213526
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with ANTKMT: view
genes like me logo Genes that share phenotypes with ANTKMT: view

Animal Models for ANTKMT Gene

MGI Knock Outs for ANTKMT:
  • Antkmt Antkmt<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANTKMT

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ANTKMT Gene

Localization for ANTKMT Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANTKMT Gene

Mitochondrion membrane. Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANTKMT gene
Compartment Confidence
mitochondrion 5
cytosol 2
extracellular 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ANTKMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 31213526
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with ANTKMT: view

Pathways & Interactions for ANTKMT Gene

PathCards logo

SuperPathways for ANTKMT Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANTKMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0018022 peptidyl-lysine methylation IEA --
GO:0018023 peptidyl-lysine trimethylation IDA 31213526
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with ANTKMT: view

No data available for Pathways by source and SIGNOR curated interactions for ANTKMT Gene

Drugs & Compounds for ANTKMT Gene

No Compound Related Data Available

Transcripts for ANTKMT Gene

mRNA/cDNA for ANTKMT Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANTKMT

Alternative Splicing Database (ASD) splice patterns (SP) for ANTKMT Gene

No ASD Table

Relevant External Links for ANTKMT Gene

GeneLoc Exon Structure for
ANTKMT

Expression for ANTKMT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ANTKMT

SOURCE GeneReport for Unigene cluster for ANTKMT Gene:

Hs.166244

Evidence on tissue expression from TISSUES for ANTKMT Gene

  • Eye(4)
genes like me logo Genes that share expression patterns with ANTKMT: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANTKMT Gene

Orthologs for ANTKMT Gene

This gene was present in the common ancestor of animals.

Orthologs for ANTKMT Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FAM173A 30 31
  • 98.87 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FAM173A 30 31
  • 86.61 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fam173a 30
  • 79.73 (n)
Mouse
(Mus musculus)
Mammalia Fam173a 30 31
  • 78.37 (n)
OneToOne
Antkmt 17
Oppossum
(Monodelphis domestica)
Mammalia FAM173A 31
  • 70 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FAM173A 31
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FAM173A 30 31
  • 66.67 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FAM173A 31
  • 57 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fam173a 30
  • 66.5 (n)
Zebrafish
(Danio rerio)
Actinopterygii fam173a 30 31
  • 55.56 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG3337 31
  • 35 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea Y39A1A.21 31
  • 33 (a)
OneToMany
Species where no ortholog for ANTKMT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ANTKMT Gene

ENSEMBL:
Gene Tree for ANTKMT (if available)
TreeFam:
Gene Tree for ANTKMT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ANTKMT: view image

Paralogs for ANTKMT Gene

Paralogs for ANTKMT Gene

genes like me logo Genes that share paralogs with ANTKMT: view

Variants for ANTKMT Gene

Additional dbSNP identifiers (rs#s) for ANTKMT Gene

Structural Variations from Database of Genomic Variants (DGV) for ANTKMT Gene

Variant ID Type Subtype PubMed ID
dgv4825n54 CNV loss 21841781
esv2422427 CNV duplication 17116639
nsv1160325 CNV duplication 26073780
nsv1160326 CNV duplication 26073780
nsv457311 CNV loss 19166990
nsv471063 CNV loss 18288195
nsv471065 CNV gain 18288195
nsv516590 CNV loss 19592680
nsv526903 CNV loss 19592680
nsv571012 CNV loss 21841781
nsv571021 CNV loss 21841781
nsv571022 CNV loss 21841781
nsv9321 CNV gain+loss 18304495
nsv952898 CNV deletion 24416366

Variation tolerance for ANTKMT Gene

Gene Damage Index Score: 3.27; 52.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANTKMT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANTKMT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANTKMT Gene

Disorders for ANTKMT Gene

No disorders were found for ANTKMT Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ANTKMT Gene

Publications for ANTKMT Gene

  1. Human FAM173A is a mitochondrial lysine-specific methyltransferase that targets adenine nucleotide translocase and affects mitochondrial respiration. (PMID: 31213526) Małecki JM … Falnes PØ (The Journal of biological chemistry 2019) 2 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PMID: 11157797) Daniels RJ … Higgs DR (Human molecular genetics 2001) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. A germline-specific class of small RNAs binds mammalian Piwi proteins. (PMID: 16751776) Girard A … Carmell MA (Nature 2006) 3

Products for ANTKMT Gene

Sources for ANTKMT Gene