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Aliases for HEMK1 Gene

Aliases for HEMK1 Gene

  • HemK Methyltransferase Family Member 1 2 3 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. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for HEMK1 Gene

Promoters and enhancers for HEMK1 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
GH03J050566 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 662.7 +2.8 2751 10 CLOCK DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZC3H11A SSRP1 HEMK1 C3orf18 CISH RBM5 RBM6 RAD54L2 SEMA3F-AS1 MAPKAPK3 DOCK3 TMEM115
GH03J050598 Promoter/Enhancer 3.2 VISTA EPDnew FANTOM5 Ensembl ENCODE dbSUPER 34 +37.3 37335 15 CLOCK MLX ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC CISH MAPKAPK3 RBM5 RBM6 TMEM115 HEMK1 RAD54L2 SEMA3F-AS1 C3orf18 DCAF1
GH03J050616 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21.6 +55.8 55848 18 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 YY1 MAPKAPK3 RBM5 DOCK3 HEMK1 RBM6 RAD54L2 SEMA3F-AS1 C3orf18 MANF TMEM115
GH03J050234 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 14.2 -323.9 -323896 21.2 HDGF FOXA2 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF213 ZNF207 GNAI2 RBM5 RBM6 SEMA3F-AS1 HYAL3 TMEM115 HYAL1 CYB561D2 RHOA-IT1 AMT
GH03J050332 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.7 -231.5 -231480 9.4 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B RASSF1 RASSF1-AS1 HYAL3 RBM5 RBM6 SEMA3F-AS1 CYB561D2 TMEM115 NICN1 RHOA-IT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HEMK1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HEMK1 gene promoter:
  • PPAR-gamma2
  • PPAR-gamma1
  • HTF
  • Zic3
  • LCR-F1
  • NF-1
  • GATA-1
  • AML1a
  • FOXD1
  • COMP1

Genomic Locations for HEMK1 Gene

Genomic Locations for HEMK1 Gene
chr3:50,569,152-50,596,168
(GRCh38/hg38)
Size:
27,017 bases
Orientation:
Plus strand
chr3:50,606,583-50,622,422
(GRCh37/hg19)
Size:
15,840 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

Clone 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
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:0005737 cytoplasm IBA --
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
Histidine Approved Nutra 50
3-hydroxyanthranilic acid Experimental Pharma 0
s-adenosylhomocysteine Experimental Pharma 0
5-methyltetrahydrofolic acid Investigational Nutra 0
Serotonin Investigational Nutra 3755

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1,6-Dimethoxypyrene
1-Hydroxy-6-methoxypyrene
  • 6-Methoxy-1-pyrenol
1-Hydroxyphenanthrene
  • 1-Hydroxyphenanthrene
  • 1-Phenanthrenol
1-Hydroxypyrene
  • 1-Hydroxy pyrene
  • 1-Pyrenol
  • Pyren-1-ol
5315-79-7
1-Methoxyphenanthrene
  • Methyl 1-phenanthryl ether
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:

Clone Products

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 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

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 34 33
  • 93 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HEMK1 34 33
  • 87.67 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HEMK1 34 33
  • 85.52 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Hemk1 16 34 33
  • 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 34 33
  • 61.36 (n)
OneToOne
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 34 33
  • 54.76 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9531 34 33
  • 48.9 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MTQ1 36 34
  • 21 (a)
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)
Aminode:
Evolutionary constrained regions (ECRs) for HEMK1: view image

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 Variation AA Info Type
rs1000108966 -- 50,572,428(+) C/A intron_variant
rs1000381217 -- 50,573,014(+) C/T intron_variant
rs1000496406 -- 50,587,365(+) G/C 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000544415 -- 50,572,112(+) C/T 5_prime_UTR_variant, intron_variant
rs1000710626 -- 50,567,526(+) C/G upstream_transcript_variant

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)

Additional Variant Information for HEMK1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for HEMK1 Gene

Additional Disease Information for HEMK1

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

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 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  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 58
  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 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for HEMK1 Gene

Sources for HEMK1 Gene

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