ALPK1 (alpha kinase 1)

2018-07-01  

Identity

HGNC
ALPK1
LOCATION
4q25
LOCUSID
80216
ALIAS
8430410J10Rik,LAK,ROSAH
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 80216
MIM: 607347
HGNC: 20917
Ensembl: ENSG00000073331

Variants:

dbSNP: 80216
ClinVar: 80216
TCGA: ENSG00000073331
COSMIC: ALPK1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000073331ENST00000177648Q96QP1
ENSG00000073331ENST00000458497Q96QP1
ENSG00000073331ENST00000504176Q96QP1
ENSG00000073331ENST00000505127B3KUH8
ENSG00000073331ENST00000509722D6RB29
ENSG00000073331ENST00000515106D6RDN6
ENSG00000073331ENST00000515330B4E0R2
ENSG00000073331ENST00000650871Q96QP1

Expression (GTEx)

0
5
10
15
20
25
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
235397542013Identification of chromosome 3q28 and ALPK1 as susceptibility loci for chronic kidney disease in Japanese individuals by a genome-wide association study.29
158831612005Alpha-kinase 1, a new component in apical protein transport.22
218229242011Lymphocyte α-kinase is a gout-susceptible gene involved in monosodium urate monohydrate-induced inflammatory responses.17
282221862017ALPK1 controls TIFA/TRAF6-dependent innate immunity against heptose-1,7-bisphosphate of gram-negative bacteria.15
235691882013ALPK1 genetic regulation and risk in relation to gout.13
203320992010A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.8
212084162011Motor coordination deficits in Alpk1 mutant mice with the inserted piggyBac transposon.6
271698982016ALPK1 phosphorylates myosin IIA modulating TNF-α trafficking in gout flares.5
253268652015Common variant of ALPK1 is not associated with gout: a replication study.3
272838882016Down-regulated and Commonly mutated ALPK1 in Lung and Colorectal Cancers.3

Citation

Dessen P

ALPK1 (alpha kinase 1)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57502/alpk1