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Aliases for HEMK1 Gene

Aliases for HEMK1 Gene

  • HemK Methyltransferase Family Member 1 2 3 5
  • M.HsaHemKP 3 4
  • HEMK 3 4
  • Testis Secretory Sperm-Binding Protein Li 225n 3
  • HEMK Homolog 7kb 3
  • EC 2.1.1.- 4
  • MTQ1 3

External Ids for HEMK1 Gene

Previous GeneCards Identifiers for HEMK1 Gene

  • GC03P050581
  • GC03P050606

Summaries for HEMK1 Gene

GeneCards Summary for HEMK1 Gene

HEMK1 (HemK Methyltransferase Family Member 1) is a Protein Coding gene. GO annotations related to this gene include 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

Regulatory Elements for HEMK1 Gene

Enhancers for HEMK1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HEMK1 on UCSC Golden Path with GeneCards custom track

Promoters for HEMK1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HEMK1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HEMK1 Gene

Chromosome:
3
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

Genes around HEMK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HEMK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HEMK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

    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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HEMK1 Gene

No data available for DME Specific Peptides for HEMK1 Gene

Domains & Families 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 :
  • Belongs to the protein N5-glutamine methyltransferase family.
Family:
  • Belongs to the protein N5-glutamine methyltransferase family.
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:0005515 protein binding IPI 25416956
GO:0008168 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

Animal Model Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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 4
cytosol 2
nucleus 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for HEMK1 Gene

Pathways & Interactions for HEMK1 Gene

SuperPathways for HEMK1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HEMK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006479 protein methylation IEA --
genes like me logo Genes that share ontologies with HEMK1: view

No data available for Pathways by source and SIGNOR curated interactions for HEMK1 Gene

Drugs & Compounds for HEMK1 Gene

(7) Drugs for HEMK1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Histidine Approved Nutra 0
S-Adenosylmethionine Approved Nutra 0
Tetrahydrofolic acid Approved Nutra 0
3-hydroxyanthranilic acid Experimental Pharma 0
5-methyltetrahydrofolate Experimental Pharma 0

(15) Additional Compounds for HEMK1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1,6-Dimethoxypyrene
1-Hydroxy-6-methoxypyrene
1-Hydroxyphenanthrene
  • 1-phenanthrenol
  • phenanthren-1-ol
1-Hydroxypyrene
  • 1-Hydroxy pyrene
  • 1-HYDROXYPYRENE
  • 1-Pyrenol
  • Pyren-1-ol
5315-79-7
1-Methoxyphenanthrene
genes like me logo Genes that share compounds 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

Protein differential expression in normal tissues from HIPED for HEMK1 Gene

This gene is overexpressed in Bone (67.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with HEMK1: view

Protein tissue co-expression partners for HEMK1 Gene

- Elite partner

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia HEMK1 35
  • 93 (n)
  • 91.42 (a)
HEMK1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hemk1 35
  • 82.84 (n)
  • 78.99 (a)
oppossum
(Monodelphis domestica)
Mammalia HEMK1 36
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEMK1 36
  • 50 (a)
OneToOne
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
rs2232250 - 50,577,534(+) TAAGC(A/G)GGAAG nc-transcript-variant, reference, missense
rs2232251 - 50,577,559(+) ACCCA(C/G/T)GAGAA nc-transcript-variant, reference, missense
rs366288 -- 50,585,879(+) ATCTC(A/C)TATTG nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs369092 -- 50,581,400(-) GCAGT(A/C)TAGTG intron-variant, nc-transcript-variant, utr-variant-3-prime
rs369418 -- 50,581,319(-) CCAAC(A/C)TAGAG intron-variant, nc-transcript-variant, utr-variant-3-prime

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

Variation tolerance for HEMK1 Gene

Residual Variation Intolerance Score: 38% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.36; 53.82% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for HEMK1 Gene

Disorders for HEMK1 Gene

Relevant External Links for HEMK1

Genetic Association Database (GAD)
HEMK1
Human Genome Epidemiology (HuGE) Navigator
HEMK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HEMK1

No disorders were found for HEMK1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3
  5. 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

Products for HEMK1 Gene

Sources for HEMK1 Gene

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