DHPS
entrez
1725
canonical
uniprot
P49366
canonical
ensembl
ENSG00000095059
resolver
ensp
ENSP00000210060
resolver
ensp
ENSP00000221303
resolver
ensp
ENSP00000471886
resolver
ensp
ENSP00000668741
resolver
ensp
ENSP00000757036
resolver
genesymbol
DHPS
resolver
genesymbol_syn
DS
resolver
hgnc
HGNC:2869
resolver
uniprot
A8K688
resolver
uniprot
M0R1I5
resolver
uniprot
Q13184
resolver
uniprot
Q13276
resolver
uniprot
Q9UDG0
resolver
uniprot_entry
DHYS_HUMAN
resolver
uniprot_sec
A8K688
resolver
uniprot_sec
M0R1I5
resolver
uniprot_sec
Q13184
resolver
uniprot_sec
Q13276
resolver
uniprot_sec
Q9UDG0
resolver
amino_acid_sequence
MEGSLEREAPAGALAAVLKHSSTLPPESTQVRGYDFNRGVNYRALLEAFGTTGFQATNFGRAVQQVNAMIEKKLEPLSQDEDQHADLTQSRRPLTSCTIFLGYTSNLISSGIRETIRYLVQHNMVDVLVTTAGGVEEDLIKCLAPTYLGEFSLRGKELRENGINRIGNLLVPNENYCKFEDWLMPILDQMVMEQNTEGVKWTPSKMIARLGKEINNPESVYYWAQKNHIPVFSPALTDGSLGDMIFFHSYKNPGLVLDIVEDLRLINTQAIFAKCTGMIILGGGVVKHHIANANLMRNGADYAVYINTAQEFDGSDSGARPDEAVSWGKIRVDAQPVKVYADASLVFPLLVAETFAQKMDAFMHEKNED
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with seizures and speech and walking impairment (NEDSSWI) [MIM:618480]: An autosomal recessive disorder characterized by global developmental delay with intellectual disability and poor speech acquisition, and walking difficulties due to hypotonia, hypertonia, spasticity, or poor coordination. Additional features include seizures, mild dysmorphic features, and variable short stature. {ECO:0000269|PubMed:30661771}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.5.1.46
uniprot
proteins
function
FUNCTION: Catalyzes the NAD-dependent oxidative cleavage of spermidine and the subsequent transfer of the butylamine moiety of spermidine to the epsilon-amino group of a critical lysine residue of the eIF-5A precursor protein to form the intermediate deoxyhypusine residue (PubMed:30661771). This is the first step of the post-translational modification of that lysine into an unusual amino acid residue named hypusine. Hypusination is unique to mature eIF-5A factor and is essential for its function. {ECO:0000269|PubMed:30661771}.
uniprot
proteins
mass_dalton
40971
uniprot
proteins
mutagenesis
MUTAGEN 106; /note="N->A: Strongly reduced NAD and spermidine binding. Reduced activity."; /evidence="ECO:0000269|PubMed:11311149"; MUTAGEN 109; /note="S->A: Strongly reduced spermidine binding. Reduced activity."; /evidence="ECO:0000269|PubMed:11311149"; MUTAGEN 137; /note="E->A: Strongly reduced NAD binding. Strongly reduced formation of covalent intermediate."; /evidence="ECO:0000269|PubMed:11311149"; MUTAGEN 238; /note="D->A: Strongly reduced NAD binding. Strongly reduced formation of covalent intermediate."; /evidence="ECO:0000269|PubMed:11311149"; MUTAGEN 243; /note="D->A: Reduces spermidine binding by 98%. Strongly reduced formation of covalent intermediate."; /evidence="ECO:0000269|PubMed:11311149"; MUTAGEN 287; /note="K->A: Reduces covalent intermediate formation and deoxyhypusine synthesis by 99.5%. Retains low spermidine cleavage activity."; /evidence="ECO:0000269|PubMed:9405486"; MUTAGEN 288; /note="H->A: Reduces spermidine binding by 98%. Strongly reduced NAD binding. Strongly reduced formation of covalent intermediate."; /evidence="ECO:0000269|PubMed:11311149"; MUTAGEN 305; /note="Y->A: Strongly reduced NAD binding. No effect on enzyme activity."; /evidence="ECO:0000269|PubMed:11311149"; MUTAGEN 313; /note="D->A: Strongly reduced NAD binding."; /evidence="ECO:0000269|PubMed:11311149"; MUTAGEN 316; /note="D->A: Reduces spermidine binding by 98%. Loss of covalent intermediate formation and deoxyhypusine synthesis."; /evidence="ECO:0000269|PubMed:11311149"; MUTAGEN 317; /note="S->A: Strongly reduced NAD binding. No effect on enzyme activity."; /evidence="ECO:0000269|PubMed:11311149"; MUTAGEN 323; /note="E->A: Reduces spermidine binding by 98%. Strongly reduced formation of covalent intermediate."; /evidence="ECO:0000269|PubMed:11311149"; MUTAGEN 327; /note="W->A: Reduces spermidine binding by 98%. Loss of covalent intermediate formation and deoxyhypusine synthesis."; /evidence="ECO:0000269|PubMed:11311149"; MUTAGEN 329; /note="K->A,R: Loss of covalent intermediate formation and deoxyhypusine synthesis."; /evidence="ECO:0000269|PubMed:9405486"; MUTAGEN 342; /note="D->A: Strongly reduced NAD binding. Strongly reduced activity."; /evidence="ECO:0000269|PubMed:11311149
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; eIF5A hypusination. {ECO:0000269|PubMed:30661771}.
uniprot
proteins
protein_family
Deoxyhypusine synthase family
uniprot
proteins
pubmed
11311149
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15100216
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
30661771
uniprot
proteins
pubmed
7673224
uniprot
proteins
pubmed
7750572
uniprot
proteins
pubmed
8549832
uniprot
proteins
pubmed
8615810
uniprot
proteins
pubmed
9110174
uniprot
proteins
pubmed
9405486
uniprot
proteins
pubmed
9493264
uniprot
proteins
pubmed
9666110
uniprot
proteins
sequence_length
369
uniprot
proteins