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 2.7.1.81 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 Lysine degradation and Viral mRNA Translation. 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
- 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

Genomic Locations for HYKK Gene
chr15:78,507,564-78,537,373
(GRCh38/hg38)
Size:
29,810 bases
Orientation:
Plus strand
chr15:78,799,906-78,829,715
(GRCh37/hg19)
Size:
29,810 bases
Orientation:
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:
    A2RU49-HYKK_HUMAN
    Recommended name:
    Hydroxylysine kinase
    Protein Accession:
    A2RU49
    Secondary Accessions:
    • B7ZMA5
    • F8W6X5
    • Q6ZTN0

    Protein attributes for HYKK Gene

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

    Alternative splice isoforms for HYKK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HYKK Gene

Post-translational modifications for HYKK Gene

  • Ubiquitination at Lys186
  • Modification sites at PhosphoSitePlus

Other Protein References for HYKK Gene

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

A2RU49

UniProtKB/Swiss-Prot:

HYKK_HUMAN :
  • Belongs to the aminoglycoside phosphotransferase family.
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=2.7.1.81; 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 IBA --
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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • 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

Cytoplasm.

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 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 320
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
5-Hydroxylysine
  • (2S,5R)-5-Hydroxylysine
  • (5R)-5-Hydroxy-L-lysine
  • alpha,epsilon-diamino-delta-Hydroxycaproic acid
  • L-erythro-5-Hydroxylysine
  • L-Normal-5-hydroxylysine
1190-94-9
5-phosphonooxy-L-lysine
  • 5-Phosphonooxy-L-lysine
  • O-Phosphohydroxy-L-lysine
genes like me logo Genes that share compounds with HYKK: view

Transcripts for HYKK Gene

mRNA/cDNA for HYKK Gene

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

CRISPR Products

Inhibitory RNA Products

  • 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
SP1:
SP2: -

Relevant External Links for HYKK Gene

GeneLoc Exon Structure for
HYKK

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(4.4)
genes like me logo Genes that share expression patterns with HYKK: view

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
Chimpanzee
(Pan troglodytes)
Mammalia AGPHD1 30
  • 99.37 (n)
HYKK 31
  • 99 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia HYKK 30 31
  • 89.99 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hykk 30
  • 84.54 (n)
Mouse
(Mus musculus)
Mammalia Hykk 30 17 31
  • 84 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HYKK 30 31
  • 78.11 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HYKK 31
  • 68 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HYKK 31
  • 64 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AGPHD1 30 31
  • 62.85 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hykk 30
  • 64.05 (n)
Zebrafish
(Danio rerio)
Actinopterygii zgc:171550 30
  • 56.13 (n)
HYKK (1 of 2) 31
  • 47 (a)
OneToMany
HYKK (2 of 2) 31
  • 43 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004612 30
  • 45.91 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG31751 30 31
  • 45.81 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 28 (a)
OneToMany
-- 31
  • 27 (a)
OneToMany
-- 31
  • 23 (a)
OneToMany
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

ENSEMBL:
Gene Tree for HYKK (if available)
TreeFam:
Gene Tree for HYKK (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HYKK: view image

Paralogs for HYKK Gene

No data available for Paralogs for HYKK Gene

Variants for HYKK Gene

Additional dbSNP identifiers (rs#s) for HYKK Gene

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)
HYKK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HYKK

SNP Genotyping and Copy Number Assay Products

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: DISEASES

Disorder Aliases PubMed IDs
histidinemia
  • 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
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. 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
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for HYKK Gene

Sources for HYKK Gene