Aliases for HYKK Gene

Aliases for HYKK Gene

  • Hydroxylysine Kinase 2 3 4 5
  • Aminoglycoside Phosphotransferase Domain-Containing Protein 1 3 4
  • 5-Hydroxy-L-Lysine Kinase 3 4
  • 5-Hydroxylysine Kinase 2 3
  • AGPHD1 3 4
  • Aminoglycoside Phosphotransferase Domain Containing 1 2
  • EC 4
  • LOC123688 2
  • HYKK 5

External Ids for HYKK Gene

Previous HGNC Symbols for HYKK Gene

  • AGPHD1

Previous GeneCards Identifiers for HYKK Gene

  • GC15P078800

Summaries for HYKK Gene

GeneCards Summary for HYKK Gene

HYKK (Hydroxylysine Kinase) is a Protein Coding gene. Diseases associated with HYKK include Histidinemia and Histidine Metabolism Disease. Among its related pathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Lysine degradation. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and hydroxylysine kinase activity.

UniProtKB/Swiss-Prot Summary for HYKK Gene

  • Catalyzes the GTP-dependent phosphorylation of 5-hydroxy-L-lysine.

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

Genomics for HYKK Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HYKK Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J078506 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.2 159 2.2 SP1 ZNF600 MYC IKZF1 ZNF10 POLR2A ZIC2 YY1 MXD4 MBD2 HYKK IREB2 piR-56759-190 PSMA4
GH15J078507 Enhancer 0.4 Ensembl 250.7 -1.3 -1263 0.2 TAL1 CBFA2T2 CBFA2T3 HYKK piR-50444-137 IREB2
GH15J078539 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 12.3 +33.4 33441 3 ZNF207 MYC ZNF580 POLR2A ZNF10 NFIC ZIC2 ZBTB10 YY1 MXD4 PSMA4 HSALNG0107478 lnc-CHRNA3-6 lnc-CHRNA3-7 CHRNA5 HYKK ENSG00000259562 IREB2
GH15J078564 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 10.8 +58.7 58690 3.1 IKZF1 MYC NCOR1 ZNF600 ATF2 POLR2A MXD4 NONO SMAD5 HES1 CHRNA5 HSALNG0107483 ADAMTS7 PSMA4 HYKK MORF4L1 CRABP1 RASGRF1 HSALNG0107484 ENSG00000261762
GH15J077621 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 -883.9 -883895 4.3 NCOR1 MYC IKZF1 ZNF592 NFIC ZIC2 MNT ZNF148 MCM3 ZBTB7B ENSG00000259562 IREB2 WDR61 TBC1D2B HMG20A ENSG00000259322 ENSG00000260988 PSMA4 HYKK LOC645752
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Genomic Locations for HYKK Gene

Latest Assembly
29,810 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
29,797 bases
Plus strand

(GRCh37/hg19 by Ensembl)
29,809 bases
Plus strand

Genomic View for HYKK Gene

Genes around HYKK on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for HYKK Gene

Proteins for HYKK Gene

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

    Protein Symbol:
    Recommended name:
    Hydroxylysine kinase
    Protein Accession:
    Secondary Accessions:
    • B7ZMA5
    • F8W6X5
    • Q6ZTN0

    Protein attributes for HYKK Gene

    373 amino acids
    Molecular mass:
    41933 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for HYKK Gene


neXtProt entry for HYKK Gene

Post-translational modifications for HYKK Gene

  • Ubiquitination at Lys186
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HYKK Gene

Domains & Families for HYKK Gene

Gene Families for HYKK Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for HYKK Gene

Suggested Antigen Peptide Sequences for HYKK Gene

GenScript: Design optimal peptide antigens:
  • Aminoglycoside phosphotransferase domain-containing protein 1 (AGPD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the aminoglycoside phosphotransferase family.
  • Belongs to the aminoglycoside phosphotransferase family.
genes like me logo Genes that share domains with HYKK: view

Function for HYKK Gene

Molecular function for HYKK Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the GTP-dependent phosphorylation of 5-hydroxy-L-lysine.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(5R)-5-hydroxy-L-lysine + GTP = (5R)-5-phosphooxy-L-lysine + GDP + H(+); Xref=Rhea:RHEA:19049, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:57882, ChEBI:CHEBI:58189, ChEBI:CHEBI:58357; EC=; Evidence={ECO:0000269|PubMed:22241472};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=280 uM for (5R)-5-hydroxy-L-lysine (in the presence of 2 mM ATP) {ECO:0000269|PubMed:22241472}; KM=7.6 uM for (5R)-5-hydroxy-L-lysine (in the presence of 0.2 mM GTP) {ECO:0000269|PubMed:22241472}; KM=810 uM for ATP (in the presence of 0.5 mM (5R)-5-hydroxy-L-lysine) {ECO:0000269|PubMed:22241472}; KM=3.5 uM for GTP (in the presence of 0.5 mM (5R)-5-hydroxy-L-lysine) {ECO:0000269|PubMed:22241472}; Vmax=4.95 umol/min/mg enzyme toward (5R)-5-hydroxy-L-lysine (in the presence of 2 mM ATP) {ECO:0000269|PubMed:22241472}; Vmax=0.49 umol/min/mg enzyme toward (5R)-5-hydroxy-L-lysine (in the presence of 0.2 mM GTP) {ECO:0000269|PubMed:22241472}; Vmax=5.28 umol/min/mg enzyme toward ATP (in the presence of 0.5 mM (5R)-5-hydroxy-L-lysine) {ECO:0000269|PubMed:22241472}; Vmax=0.57 umol/min/mg enzyme toward GTP (in the presence of 0.5 mM (5R)-5-hydroxy-L-lysine) {ECO:0000269|PubMed:22241472};

Enzyme Numbers (IUBMB) for HYKK Gene

Phenotypes From GWAS Catalog for HYKK Gene

Gene Ontology (GO) - Molecular Function for HYKK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
GO:0019202 amino acid kinase activity IBA 21873635
GO:0047992 hydroxylysine kinase activity TAS --
genes like me logo Genes that share ontologies with HYKK: view
genes like me logo Genes that share phenotypes with HYKK: view

Inhibitory RNAs for research

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

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HYKK Gene

Localization for HYKK Gene

Subcellular locations from UniProtKB/Swiss-Prot for HYKK Gene


Subcellular locations from

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 HYKK gene
Compartment Confidence
mitochondrion 4
nucleus 2
cytosol 2
peroxisome 1
endosome 1
cytoskeleton 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Aggresome (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HYKK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with HYKK: view

Pathways & Interactions for HYKK Gene

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

Interacting Proteins for HYKK Gene

Gene Ontology (GO) - Biological Process for HYKK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006554 lysine catabolic process TAS --
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with HYKK: view

No data available for SIGNOR curated interactions for HYKK Gene

Drugs & Compounds for HYKK Gene

(3) Drugs for HYKK Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Varenicline Approved, Investigational Pharma α4β2 nAChRs antagonist 338
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(2) Additional Compounds for HYKK Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (2S,5R)-5-Hydroxylysine
  • (5R)-5-Hydroxy-L-lysine
  • alpha,epsilon-Diamino-delta-hydroxycaproic acid
  • L-Erythro-5-hydroxylysine
  • L-Normal-5-hydroxylysine
  • O-Phosphohydroxy-L-lysine
  • (5R)-5-Phosphooxy-L-lysine
  • (5R)-5-Phosphonooxy-L-lysine
  • 5-Phosphonooxy-L-lysine
genes like me logo Genes that share compounds with HYKK: view

Transcripts for HYKK Gene

mRNA/cDNA for HYKK Gene

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

Inhibitory RNAs for research

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

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

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b
SP2: -

Relevant External Links for HYKK Gene

GeneLoc Exon Structure for

Expression for HYKK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HYKK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

Evidence on tissue expression from TISSUES for HYKK Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with HYKK: view

Primer products for research

No data available for 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 HYKK Gene

Orthologs for HYKK Gene

This gene was present in the common ancestor of animals.

Orthologs for HYKK Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia AGPHD1 29
  • 99.37 (n)
  • 99 (a)
(Bos Taurus)
Mammalia HYKK 29 30
  • 89.99 (n)
(Rattus norvegicus)
Mammalia Hykk 29
  • 84.54 (n)
(Mus musculus)
Mammalia Hykk 29 16 30
  • 84 (n)
(Canis familiaris)
Mammalia HYKK 29 30
  • 78.11 (n)
(Monodelphis domestica)
Mammalia HYKK 30
  • 68 (a)
(Ornithorhynchus anatinus)
Mammalia HYKK 30
  • 64 (a)
(Gallus gallus)
Aves AGPHD1 29 30
  • 62.85 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hykk 29
  • 64.05 (n)
(Danio rerio)
Actinopterygii zgc:171550 29
  • 56.13 (n)
HYKK (1 of 2) 30
  • 47 (a)
HYKK (2 of 2) 30
  • 43 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004612 29
  • 45.91 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG31751 29 30
  • 45.81 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 28 (a)
-- 30
  • 27 (a)
-- 30
  • 23 (a)
Species where no ortholog for HYKK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • Lizard (Anolis carolinensis)
  • 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 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 HYKK Gene

Gene Tree for HYKK (if available)
Gene Tree for HYKK (if available)
Evolutionary constrained regions (ECRs) for HYKK: view image
Alliance of Genome Resources:
Additional Orthologs for HYKK

Paralogs for HYKK Gene

No data available for Paralogs for HYKK Gene

Variants for HYKK Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HYKK Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv2749911 CNV deletion 23290073
esv3636985 CNV loss 21293372
nsv1038816 CNV gain 25217958
nsv1116464 OTHER inversion 24896259
nsv94512 CNV deletion 16902084

Variation tolerance for HYKK Gene

Residual Variation Intolerance Score: 80.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.91; 67.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HYKK Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

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 HYKK Gene

Disorders for HYKK Gene

MalaCards: The human disease database

(3) MalaCards diseases for HYKK Gene - From: COP

Disorder Aliases PubMed IDs
  • histidine ammonia-lyase deficiency
histidine metabolism disease
  • disturbances of histidine metabolism
tobacco addiction
  • tobacco addiction, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search HYKK in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HYKK

genes like me logo Genes that share disorders with HYKK: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HYKK Gene

Publications for HYKK Gene

  1. Molecular identification of hydroxylysine kinase and of ammoniophospholyases acting on 5-phosphohydroxy-L-lysine and phosphoethanolamine. (PMID: 22241472) Veiga-da-Cunha M … Van Schaftingen E (The Journal of biological chemistry 2012) 2 3 4
  2. Familial aggregation of common sequence variants on 15q24-25.1 in lung cancer. (PMID: 18780872) Liu P … You M (Journal of the National Cancer Institute 2008) 2 3
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3
  5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3

Products for HYKK Gene

Sources for HYKK Gene