Protein Kinase, Lysine-Deficient 1

Alternative Names

  • WNK1
  • Prostrate-Derived Sterile 20-Like Kinase
  • PSK
  • PRKWNK1
  • KDP
  • KIAA0344
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OMIM Number

605232

NCBI Gene ID

65125

Uniprot ID

Q9H4A3

Length

158,874 bases

No. of Exons

31

No. of isoforms

6

Protein Name

Serine/Threonine-Protein Kinase WNK1

Molecular Mass

250794 Da

Amino Acid Count

2382

Genomic Location

chr12:752,579-911,452

Gene Map Locus
12p13.33

Description

The WNK1 gene encodes a serine-threonine kinase which plays a key role in several biological processes. It has been found to be involved in the regulation of ion homeostasis and transport, cell signaling pathways, and cellular response to stimuli. 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001184985.1:c.2971C>TLebanonchr12:813750PathogenicPathogenicNeuropathy, Hereditary Sensory and Autonomic, Type IING_007984.3:g.120639C>T; NM_001184985.1:c.2971C>T; NP_001171914.1:p.Arg991Ter1110335915168
NM_018979.4:c.2140-2489delLebanonNC_000012.12:g.868776delPathogenicPathogenicNeuropathy, Hereditary Sensory and Autonomic, Type IING_007984.3:g.120718del; NM_018979.4:c.2140-2489del; NP_001171914.1:p.Pro1017LeufsTer2973158
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