DHPS (deoxyhypusine synthase)

2016-10-01  

Identity

HGNC
DHPS
LOCATION
19p13.13
LOCUSID
1725
ALIAS
DHS,DS,MIG13,NEDSSWI
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1725
MIM: 600944
HGNC: 2869
Ensembl: ENSG00000095059

Variants:

dbSNP: 1725
ClinVar: 1725
TCGA: ENSG00000095059
COSMIC: DHPS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000095059ENST00000210060P49366
ENSG00000095059ENST00000210060A0A024R7D0
ENSG00000095059ENST00000351660P49366
ENSG00000095059ENST00000351660A0A024R7E9
ENSG00000095059ENST00000593423M0QYZ7
ENSG00000095059ENST00000594424P49366
ENSG00000095059ENST00000595100M0QX43
ENSG00000095059ENST00000595912B4E3M2
ENSG00000095059ENST00000596162M0R264
ENSG00000095059ENST00000597152M0R1T2
ENSG00000095059ENST00000598246M0R0V2
ENSG00000095059ENST00000598850M0R0J4
ENSG00000095059ENST00000600451M0QZT3
ENSG00000095059ENST00000600639M0QXT2
ENSG00000095059ENST00000600864M0R1T4
ENSG00000095059ENST00000601537Q5J8M5
ENSG00000095059ENST00000601639M0R253
ENSG00000095059ENST00000614126A0A087WZK0

Expression (GTEx)

0
50
100
150
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

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Gamma carboxylation, hypusine formation and arylsulfatase activationREACTOMER-HSA-163841
Hypusine synthesis from eIF5A-lysineREACTOMER-HSA-204626

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
379251092024Clinical significance of mutations in dihydropteroate synthase in Pneumocystis jirovecii pneumonia among non-HIV-infected patients.0
379251092024Clinical significance of mutations in dihydropteroate synthase in Pneumocystis jirovecii pneumonia among non-HIV-infected patients.0
369732442023Cryo-EM structure of human eIF5A-DHS complex reveals the molecular basis of hypusination-associated neurodegenerative disorders.3
373337702023Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis.1
369732442023Cryo-EM structure of human eIF5A-DHS complex reveals the molecular basis of hypusination-associated neurodegenerative disorders.3
373337702023Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis.1
349479822021eIF5A-Independent Role of DHPS in p21(CIP1) and Cell Fate Regulation.2
349479822021eIF5A-Independent Role of DHPS in p21(CIP1) and Cell Fate Regulation.2
322355052020Half Way to Hypusine-Structural Basis for Substrate Recognition by Human Deoxyhypusine Synthase.13
322355052020Half Way to Hypusine-Structural Basis for Substrate Recognition by Human Deoxyhypusine Synthase.13
306617712019Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.23
315583212019DHPS-dependent hypusination of eIF5A1/2 is necessary for TGFβ/fibronectin-induced breast cancer metastasis and associates with prognostically unfavorable genomic alterations in TP53.3
306617712019Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.23
315583212019DHPS-dependent hypusination of eIF5A1/2 is necessary for TGFβ/fibronectin-induced breast cancer metastasis and associates with prognostically unfavorable genomic alterations in TP53.3
270415632016The hypusine cascade promotes cancer progression and metastasis through the regulation of RhoA in squamous cell carcinoma.19

Citation

Dessen P

DHPS (deoxyhypusine synthase)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56398/haematological-explorer/deep-insight-explorer/img/css/template-card.css