DHPS

Protein identityUniProt · HPA

UniProt accession

P49366

Gene

DHPS

Ensembl

ENSG00000095059

Chromosome

19

Canonical length

369 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Cytosol

Quaternary structure

Homotetramer

OverviewNCBI Gene

This gene encodes a protein that is required for the formation of hypusine, a unique amino acid formed by the posttranslational modification of only one protein, eukaryotic translation initiation factor 5A. The encoded protein catalyzes the first step in hypusine formation by transferring the butylamine moiety of spermidine to a specific lysine residue of the eukaryotic translation initiation factor 5A precursor, forming an intermediate deoxyhypusine residue. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2011]

Canonical amino-acid sequenceUniProt

369 residues, UniProt reviewed canonical sequence.

>P49366|DHPS
     1  MEGSLEREAP AGALAAVLKH SSTLPPESTQ VRGYDFNRGV NYRALLEAFG TTGFQATNFG
    61  RAVQQVNAMI EKKLEPLSQD EDQHADLTQS RRPLTSCTIF LGYTSNLISS GIRETIRYLV
   121  QHNMVDVLVT TAGGVEEDLI KCLAPTYLGE FSLRGKELRE NGINRIGNLL VPNENYCKFE
   181  DWLMPILDQM VMEQNTEGVK WTPSKMIARL GKEINNPESV YYWAQKNHIP VFSPALTDGS
   241  LGDMIFFHSY KNPGLVLDIV EDLRLINTQA IFAKCTGMII LGGGVVKHHI ANANLMRNGA
   301  DYAVYINTAQ EFDGSDSGAR PDEAVSWGKI RVDAQPVKVY ADASLVFPLL VAETFAQKMD
   361  AFMHEKNED

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DHPS can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

88 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DHPS.

Disease | AllUniProt

Conditions DHPS is implicated in, by any mechanism.

• Neurodevelopmental disorder with seizures and speech and walking impairment (NEDSSWI) MIM:618480

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 87 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neurodevelopmental disorder with seizures and speech and walking impairment
• DHPS-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.87

gnomAD pLI

0

gnomAD missense Z

-0.39

DepMap mean gene effect

-0.83

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• glucose homeostasis
• positive regulation of cell population proliferation
• positive regulation of T cell proliferation
• protein maturation
• spermidine catabolic process
• translation
• spermidine metabolic process

Molecular functions

• identical protein binding
• deoxyhypusine synthase activity

Cellular components

• cytoplasm
• cytosol

Protein domainsUniProt · Pfam · InterPro

• DHS-like NAD/FAD-binding domain superfamily
• Deoxyhypusine synthase
• Deoxyhypusine synthase superfamily
• Deoxyhypusine synthase

KeywordsUniProt

• Hypusine biosynthesis
• Intellectual disability
• NAD
• Phosphoprotein
• Transferase

InteractionsUniProt · HPA

Protein binding partners of DHPS in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• EIF5A
• EIF5A2
• MAPK3
• RPL9