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HYKK hydroxylysine kinase [ Homo sapiens (human) ]

Gene ID: 123688, updated on 12-Aug-2018

Summary

Official Symbol
HYKKprovided by HGNC
Official Full Name
hydroxylysine kinaseprovided by HGNC
Primary source
HGNC:HGNC:34403
See related
Ensembl:ENSG00000188266 MIM:614681; Vega:OTTHUMG00000177204
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AGPHD1
Expression
Ubiquitous expression in kidney (RPKM 1.5), duodenum (RPKM 1.5) and 24 other tissues See more
Orthologs

Genomic context

See HYKK in Genome Data Viewer
Location:
15q25.1
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (78507564..78537373)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (78799906..78829715)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370912 Neighboring gene iron responsive element binding protein 2 Neighboring gene proteasome subunit alpha 4 Neighboring gene cholinergic receptor nicotinic alpha 5 subunit Neighboring gene cholinergic receptor nicotinic alpha 3 subunit

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.
NHGRI GWA Catalog
A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25.
NHGRI GWA Catalog
Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.
NHGRI GWA Catalog
Familial aggregation of common sequence variants on 15q24-25.1 in lung cancer.
NHGRI GWA Catalog
Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.
NHGRI GWA Catalog
Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1.
NHGRI GWA Catalog
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
NHGRI GWA Catalog
Genome-wide association study of smoking behaviours in patients with COPD.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: PSMA4

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hydroxylysine kinase activity TAS
Traceable Author Statement
more info
 
protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
lysine catabolic process TAS
Traceable Author Statement
more info
 
phosphorylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
hydroxylysine kinase
Names
5-hydroxy-L-lysine kinase
5-hydroxylysine kinase
aminoglycoside phosphotransferase domain-containing protein 1
NP_001013641.2
NP_001077081.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001013619.3NP_001013641.2  hydroxylysine kinase isoform 1

    See identical proteins and their annotated locations for NP_001013641.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC027228, AW327432, BM045979, DN831396
    Consensus CDS
    CCDS42063.1
    UniProtKB/Swiss-Prot
    A2RU49
    Related
    ENSP00000373640.4, ENST00000388988.8
    Conserved Domains (2) summary
    COG2334
    Location:8343
    SrkA; Ser/Thr protein kinase RdoA involved in Cpx stress response, MazF antagonist [Signal transduction mechanisms]
    cl21453
    Location:19308
    PKc_like; Protein Kinases, catalytic domain
  2. NM_001083612.1NP_001077081.1  hydroxylysine kinase isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains a distinct 3' coding exon and 3' UTR, comapred to variant 1. The resulting protein (isoform 2) has a shorter C-terminus compared to isoform 1.
    Source sequence(s)
    BC132753, BM045979, BM826406
    Consensus CDS
    CCDS45318.1
    UniProtKB/Swiss-Prot
    A2RU49
    Related
    ENSP00000386197.2, ENST00000408962.6
    Conserved Domains (1) summary
    cl21453
    Location:19217
    PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    78507564..78537373
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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