HYKK (hydroxylysine kinase)

Gene

• Entrez ID: 123688
• Gene name: Hydroxylysine kinase
• Gene symbol: HYKK
• Synonyms (NCBI Gene): AGPHD1
• Chromosome: 15
• Chromosome location: 15q25.1

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006554	Process	Lysine catabolic process	TAS
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019202	Function	Amino acid kinase activity	IBA
GO:0047992	Function	Hydroxylysine kinase activity	IDA	22241472
GO:0047992	Function	Hydroxylysine kinase activity	IEA
GO:0047992	Function	Hydroxylysine kinase activity	TAS

Other IDs

• MIM: 614681
• HGNC: 34403
• e!Ensembl: ENSG00000188266

Protein

• UniProt ID: A2RU49
• Protein name: Hydroxylysine kinase (5-hydroxy-L-lysine kinase) (EC 2.7.1.81) (Aminoglycoside phosphotransferase domain-containing protein 1)
• Protein function: Catalyzes the GTP-dependent phosphorylation of 5-hydroxy-L-lysine.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01636	APH	36 → 297	Phosphotransferase enzyme family	Family

• Sequence:

  MSSGNYQQSEALSKPTFSEEQASALVESVFGLKVSKVRPLPSYDDQNFHVYVSKTKDGPT
  EYVLKISNTKASKNPDLIEVQNHIIMFLKAAGFPTASVCHTKGDNTASLVSVDSGSEIKS
  YLVRLLTYLPGRPIAELPVSPQLLYEIGKLAAKLDKTLQRFHHPKLSSLHRENFIWNLKN
  VPLLEKYLYALGQNRNREIVEHVIHLFKEEVMTKLSHFRECINHGDLNDHNILIESSKSA
  SGNAEYQVSGILDFGDMSYGYYVFEVAITIMYMMIESKSPIQVGGHVLAGFESITPLTAV
  EKGALFLLVCSRFCQSLVMAAYSCQLYPENKDYLMVTAKTGWKHLQQMFDMGQKAVEEIW
  FETAKSYESGISM

• Sequence length: 373

Pathways

KEGG:

Lysine degradation
Metabolic pathways

Reactome:

Lysine catabolism

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BRAIN ANEURYSM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF LYSINE AND HYDROXYLYSINE METABOLISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	19223495		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASDB_DG	19836008		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	18385676, 18385738, 18780872, 19654303		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18780872, 19733931, 20554942, 21229299, 22701590, 25074529, 25854352, 27072204, 29110844		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	19300482, 21685187, 26634245, 29631575		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASDB_DG	19300482, 21685187, 21921092		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	23299987		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Emphysema	Emphysema	Pubtator	24563194	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	23349703	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	18385676, 18780872, 19300482, 19641473, 20056643, 20548021, 20554942, 20587604, 21697764, 21966413, 22028403, 22306564, 22430809, 23454887, 25999661, 26352532	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	GWASDB_DG	18385676, 18385738, 18780872, 18978787, 18978790, 19654303, 22899653		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18780872, 19733931, 20554942, 21229299, 22701590, 25074529, 25854352, 27072204, 29110844		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	27344179	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	GWASDB_DG	20512145		★☆☆☆☆ Found in Text Mining only
Phosphohydroxylysinuria	Phosphohydroxylysinuria	BEFREE	22241472		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	19300482, 21232152, 22356581, 22438921, 22461431, 23299987, 23349703, 27323020, 29422661	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	30285260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21081471	Associate	★☆☆☆☆ Found in Text Mining only