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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.

Additional gene information for HEMK1 Gene

No data available for Entrez Gene Summary , CIViC 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H050598 2.5 VISTA FANTOM5 Ensembl ENCODE dbSUPER 24 +37.3 37335 15 HDGF FOXA2 PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 TMEM115 HEMK1 RBM6 RAD54L2 RBM5 C3orf18 SEMA3F-AS1 DCAF1 DOCK3 MANF
GH03H050616 1.9 FANTOM5 Ensembl ENCODE dbSUPER 21.6 +55.8 55848 18 HDGF PKNOX1 ATF1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 BRCA1 DOCK3 HEMK1 MAPKAPK3 C3orf18 MANF GNAI2 LSMEM2 HYAL1 RASSF1 CYB561D2
GH03H050566 2 FANTOM5 Ensembl ENCODE dbSUPER 12.7 +2.8 2752 9 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 CISH RBM5 MAPKAPK3 RBM6 HEMK1 DOCK3 RAD54L2 SEMA3F-AS1 RASSF1 LINC02019
GH03H050587 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +21.4 21422 6 HDGF PKNOX1 FOXA2 MLX ARID4B YY1 SLC30A9 ZNF766 ZNF143 SP5 RAD54L2 DCAF1 HEMK1 TMEM115 RBM6 RASSF1 MAPKAPK3 HYAL1 DOCK3 CISH
GH03H050227 1.9 FANTOM5 Ensembl ENCODE dbSUPER 9.8 -340.0 -340030 4 HDGF ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 SP3 SP5 ZHX2 HYAL3 RBM6 SEMA3F-AS1 RBM5 SEMA3B SEMA3B-AS1 LSMEM2 TMEM115 IFRD2 RASSF1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000303989 148 1801 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 SP3

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

Post-translational modifications for HEMK1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HEMK1 Gene

Domains & Families for HEMK1 Gene

Gene 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

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

Phenotypes From GWAS Catalog 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 IEA --
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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HEMK1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
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 HEMK1 gene
Compartment Confidence
mitochondrion 4
cytosol 2
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for HEMK1 Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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:0006306 DNA methylation IEA --
GO:0006479 protein methylation IEA --
GO:0032259 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
Tetrahydrofolic acid Approved Nutra 0
3-hydroxyanthranilic acid Experimental Pharma 0
s-adenosylhomocysteine Experimental Pharma 0
Serotonin Pharma 3691

(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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HEMK1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for HEMK1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HEMK1 Gene:

HEMK1

SOURCE GeneReport for Unigene cluster for HEMK1 Gene:

Hs.517987

Evidence on tissue expression from TISSUES for HEMK1 Gene

  • Nervous system(2.5)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with HEMK1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 93 (n)
dog
(Canis familiaris)
Mammalia HEMK1 33 34
  • 87.67 (n)
cow
(Bos Taurus)
Mammalia HEMK1 33 34
  • 85.52 (n)
mouse
(Mus musculus)
Mammalia Hemk1 33 16 34
  • 82.94 (n)
rat
(Rattus norvegicus)
Mammalia Hemk1 33
  • 82.84 (n)
oppossum
(Monodelphis domestica)
Mammalia HEMK1 34
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEMK1 34
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves HEMK1 33 34
  • 61.36 (n)
lizard
(Anolis carolinensis)
Reptilia HEMK1 34
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hemk1 33
  • 54.88 (n)
zebrafish
(Danio rerio)
Actinopterygii hemk1 33 34
  • 54.76 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9531 33 34
  • 48.9 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MTQ1 34 36
  • 21 (a)
OneToOne
Species where no ortholog for HEMK1 was found in the sources mined by GeneCards:
  • 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
rs1000108966 -- 50,572,428(+) CCAGC(A/C)TCTAG intron-variant, upstream-variant-2KB
rs1000381217 -- 50,573,014(+) TAGTT(C/T)CCATT intron-variant, upstream-variant-2KB
rs1000496406 -- 50,587,365(+) ACCAA(C/G)TGGAG nc-transcript-variant, utr-variant-3-prime
rs1000544415 -- 50,572,112(+) CTCTG(C/T)AGGAT intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000710626 -- 50,567,526(+) GGAGG(C/G)CGGGG intron-variant, upstream-variant-2KB, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
esv3584502 CNV gain 24956385
nsv460532 CNV loss 19166990
nsv460533 CNV loss 19166990
nsv590272 CNV loss 21841781
nsv590273 CNV loss 21841781

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)

Relevant External Links for HEMK1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HEMK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 JM … Radlinska M (IUBMB life 1999) 2 3 22 60
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  3. The human mitochondrial translation release factor HMRF1L is methylated in the GGQ motif by the methyltransferase HMPrmC. (PMID: 18541145) Ishizawa T … Takeuchi N (Biochemical and biophysical research communications 2008) 3 4 60
  4. 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 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for HEMK1 Gene

Sources for HEMK1 Gene

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