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Aliases for HEMK1 Gene

Aliases for HEMK1 Gene

  • HemK Methyltransferase Family Member 1 2 3
  • M.HsaHemKP 3 4
  • HEMK 3 4
  • HEMK Homolog 7kb 3
  • EC 2.1.1.- 4
  • MTQ1 3

External Ids for HEMK1 Gene

Summaries for HEMK1 Gene

GeneCards Summary for HEMK1 Gene

HEMK1 (HemK Methyltransferase Family Member 1) is a Protein Coding gene. Diseases associated with HEMK1 include acrocephalosyndactylia. Among its related pathways are Phenylalanine metabolism and Histidine metabolism. GO annotations related to this gene include protein methyltransferase activity and N-methyltransferase activity.

UniProtKB/Swiss-Prot for HEMK1 Gene

  • N5-glutamine methyltransferase responsible for the methylation of the GGQ triplet of the mitochondrial translation release factor MTRF1L.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEMK1 Gene

Genomics for HEMK1 Gene

Genomic Location for HEMK1 Gene

Start:
50,569,152 bp from pter
End:
50,596,168 bp from pter
Size:
27,017 bases
Orientation:
Plus strand

Genomic View for HEMK1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HEMK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HEMK1 Gene

Regulatory Elements for HEMK1 Gene

Proteins for HEMK1 Gene

  • Protein details for HEMK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5R4-HEMK1_HUMAN
    Recommended name:
    HemK methyltransferase family member 1
    Protein Accession:
    Q9Y5R4
    Secondary Accessions:

    Protein attributes for HEMK1 Gene

    Size:
    338 amino acids
    Molecular mass:
    38231 Da
    Quaternary structure:
    No Data Available

neXtProt entry for HEMK1 Gene

Proteomics data for HEMK1 Gene at MOPED

Post-translational modifications for HEMK1 Gene

No Post-translational modifications

Other Protein References for HEMK1 Gene

No data available for DME Specific Peptides for HEMK1 Gene

Domains for HEMK1 Gene

Suggested Antigen Peptide Sequences for HEMK1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y5R4

UniProtKB/Swiss-Prot:

HEMK1_HUMAN
Family:
  • Belongs to the protein N5-glutamine methyltransferase family.:
    • Q9Y5R4
genes like me logo Genes that share domains with HEMK1: view

No data available for Gene Families for HEMK1 Gene

Function for HEMK1 Gene

Molecular function for HEMK1 Gene

UniProtKB/Swiss-Prot Function: N5-glutamine methyltransferase responsible for the methylation of the GGQ triplet of the mitochondrial translation release factor MTRF1L.

Enzyme Numbers (IUBMB) for HEMK1 Gene

Gene Ontology (GO) - Molecular Function for HEMK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0008168 methyltransferase activity --
GO:0008170 N-methyltransferase activity IEA --
GO:0008276 protein methyltransferase activity IEA --
genes like me logo Genes that share ontologies with HEMK1: view
genes like me logo Genes that share phenotypes with HEMK1: view

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for HEMK1 Gene

Localization for HEMK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEMK1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HEMK1 Gene COMPARTMENTS Subcellular localization image for HEMK1 gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HEMK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with HEMK1: view

Pathways for HEMK1 Gene

genes like me logo Genes that share pathways with HEMK1: view

Pathways by source for HEMK1 Gene

2 KEGG pathways for HEMK1 Gene

Gene Ontology (GO) - Biological Process for HEMK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006306 DNA methylation IEA --
GO:0006479 protein methylation IEA --
GO:0008152 metabolic process --
GO:0031167 rRNA methylation --
genes like me logo Genes that share ontologies with HEMK1: view

Transcripts for HEMK1 Gene

Unigene Clusters for HEMK1 Gene

HemK methyltransferase family member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HEMK1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b
SP1:
SP2: -
SP3:
SP4: - - -

Relevant External Links for HEMK1 Gene

GeneLoc Exon Structure for
HEMK1
ECgene alternative splicing isoforms for
HEMK1

Expression for HEMK1 Gene

mRNA expression in normal human tissues for HEMK1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for HEMK1 Gene

SOURCE GeneReport for Unigene cluster for HEMK1 Gene Hs.517987

genes like me logo Genes that share expressions with HEMK1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HEMK1 Gene

Orthologs for HEMK1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HEMK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HEMK1 35
  • 93 (n)
  • 91.42 (a)
HEMK1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HEMK1 35
  • 85.52 (n)
  • 82.19 (a)
HEMK1 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HEMK1 35
  • 87.67 (n)
  • 85.21 (a)
HEMK1 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hemk1 35
  • 82.94 (n)
  • 78.99 (a)
Hemk1 16
Hemk1 36
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HEMK1 36
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEMK1 36
  • 50 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hemk1 35
  • 82.84 (n)
  • 78.99 (a)
chicken
(Gallus gallus)
Aves HEMK1 35
  • 61.36 (n)
  • 58.26 (a)
HEMK1 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HEMK1 36
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hemk1 35
  • 54.88 (n)
  • 52.19 (a)
zebrafish
(Danio rerio)
Actinopterygii hemk1 35
  • 54.76 (n)
  • 47.28 (a)
hemk1 36
  • 41 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9531 35
  • 48.9 (n)
  • 36.33 (a)
CG9531 36
  • 34 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MTQ1 36
  • 21 (a)
OneToOne
MTQ1 38
Species with no ortholog for HEMK1:
  • A. gosspyii yeast (Ashbya 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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 squirt (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)
  • worm (Caenorhabditis elegans)

Evolution for HEMK1 Gene

ENSEMBL:
Gene Tree for HEMK1 (if available)
TreeFam:
Gene Tree for HEMK1 (if available)

Paralogs for HEMK1 Gene

No data available for Paralogs for HEMK1 Gene

Variants for HEMK1 Gene

Sequence variations from dbSNP and Humsavar for HEMK1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs369092 -- 50,581,400(-) GCAGT(A/C)TAGTG utr-variant-3-prime
rs369418 -- 50,581,319(-) CCAAC(A/C)TAGAG utr-variant-3-prime
rs370235 -- 50,584,833(-) ttaca(A/C/G)cagca utr-variant-3-prime
rs370999 -- 50,584,635(-) cccca(C/G)aggag utr-variant-3-prime
rs379639 -- 50,576,906(-) CAtgg(C/G)caagt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HEMK1 Gene

Variant ID Type Subtype PubMed ID
nsv876770 CNV Loss 21882294
nsv460532 CNV Loss 19166990
nsv460533 CNV Loss 19166990

Relevant External Links for HEMK1 Gene

HapMap Linkage Disequilibrium report
HEMK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEMK1 Gene

Disorders for HEMK1 Gene

(1) MalaCards Diseases for HEMK1 Gene

Search for HEMK1 Gene in MalaCards »

(2) University of Copenhagen DISEASES for HEMK1 Gene

Relevant External Links for HEMK1

Genetic Association Database (GAD)
HEMK1
Human Genome Epidemiology (HuGE) Navigator
HEMK1
genes like me logo Genes that share disorders with HEMK1: view

No data available for UniProtKB/Swiss-Prot for HEMK1 Gene

Publications for HEMK1 Gene

  1. Is the HemK family of putative S-adenosylmethionine-dependent methyltransferases a "missing" zeta subfamily of adenine methyltransferases? A hypothesis. (PMID: 10690633) Bujnicki J.M. … Radlinska M. (IUBMB Life 1999) 2 3 23
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. The human mitochondrial translation release factor HMRF1L is methylated in the GGQ motif by the methyltransferase HMPrmC. (PMID: 18541145) Ishizawa T. … Takeuchi N. (Biochem. Biophys. Res. Commun. 2008) 3 4
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for HEMK1 Gene

Sources for HEMK1 Gene

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