HYKK (hydroxylysine kinase)

2013-07-01 Affiliation

Identity

HGNC

HYKK

LOCATION

15q25.1

LOCUSID

123688

ALIAS

AGPHD1

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 123688
MIM: 614681
HGNC: 34403
Ensembl: ENSG00000188266

Variants:

dbSNP: 123688
ClinVar: 123688
TCGA: ENSG00000188266
COSMIC: HYKK

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000188266	ENST00000388988	A2RU49
ENSG00000188266	ENST00000408962	A2RU49
ENSG00000188266	ENST00000563233	A2RU49
ENSG00000188266	ENST00000566289	A2RU49
ENSG00000188266	ENST00000566332	A0A0C4DGM4
ENSG00000188266	ENST00000569878	A2RU49

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Lysine degradation	KEGG	ko00310
Lysine degradation	KEGG	hsa00310
Metabolic pathways	KEGG	hsa01100
Metabolism	REACTOME	R-HSA-1430728
Metabolism of amino acids and derivatives	REACTOME	R-HSA-71291
Lysine catabolism	REACTOME	R-HSA-71064
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism	REACTOME	R-HSA-6788656

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA164781343	varenicline	Chemical	ClinicalAnnotation, VariantAnnotation	associated		PD
PA445876	Tobacco Use Disorder	Disease	ClinicalAnnotation, VariantAnnotation	associated		PD

References

Pubmed ID	Year	Title	Citations
20548021	2010	Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium.	86
20554942	2010	Nicotinic acetylcholine receptor region on chromosome 15q25 and lung cancer risk among African Americans: a case-control study.	33
21081471	2011	Genetic variations on chromosomes 5p15 and 15q25 and bladder cancer risk: findings from the Los Angeles-Shanghai bladder case-control study.	25
20587604	2010	Fine mapping of chromosome 15q25.1 lung cancer susceptibility in African-Americans.	21
22701590	2012	Strong association between two polymorphisms on 15q25.1 and lung cancer risk: a meta-analysis.	18
21810735	2011	Single nucleotide polymorphisms in CHRNA5 rs16969968, CHRNA3 rs578776, and LOC123688 rs8034191 are associated with heaviness of smoking in women in Northeastern Ontario, Canada.	10
19733931	2010	Blood-based CHRNA3 single nucleotide polymorphism and outcome in advanced non-small-cell lung cancer patients.	3
25074529	2014	Genetic association between AGPHD1 variant and lung cancer risk.	1
27072204	2016	Different effects of the three polymorphisms on 15q25.1 onlung cancer risk: Evidence from published literatures.	1
25854352	2015	Meta-analysis of the association between the rs8034191 polymorphism in AGPHD1 and lung cancer risk.	0

Citation

Dessen P

HYKK (hydroxylysine kinase)

Atlas Genet Cytogenet Oncol Haematol. 2013-07-01

Online version: http://atlasgeneticsoncology.org/gene/53458/hykk