UniProt functional annotation for P49366



	UniProt functional annotation for P49366

UniProt code: P49366.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

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}.

Catalytic activity: Reaction=[eIF5A protein]-L-lysine + spermidine = [eIF5A protein]- deoxyhypusine + propane-1,3-diamine; Xref=Rhea:RHEA:33299, Rhea:RHEA- COMP:10143, Rhea:RHEA-COMP:10144, ChEBI:CHEBI:29969, ChEBI:CHEBI:57484, ChEBI:CHEBI:57834, ChEBI:CHEBI:82657; EC=2.5.1.46; Evidence={ECO:0000269|PubMed:30661771};

Cofactor: Name=NAD(+); Xref=ChEBI:CHEBI:57540;

Pathway: Protein modification; eIF5A hypusination. {ECO:0000269|PubMed:30661771}.

Subunit: Homotetramer formed by a dimer of dimers. {ECO:0000269|PubMed:15100216, ECO:0000269|PubMed:9405486, ECO:0000269|PubMed:9493264}.

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.

Miscellaneous: [Isoform Short]: Inactive. {ECO:0000305}.

Similarity: Belongs to the deoxyhypusine synthase family. {ECO:0000305}.

Sequence caution: Sequence=AL520040; Type=Frameshift; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



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}.


Catalytic activity:		Reaction=[eIF5A protein]-L-lysine + spermidine = [eIF5A protein]- deoxyhypusine + propane-1,3-diamine; Xref=Rhea:RHEA:33299, Rhea:RHEA- COMP:10143, Rhea:RHEA-COMP:10144, ChEBI:CHEBI:29969, ChEBI:CHEBI:57484, ChEBI:CHEBI:57834, ChEBI:CHEBI:82657; EC=2.5.1.46; Evidence={ECO:0000269\|PubMed:30661771};
Cofactor:		Name=NAD(+); Xref=ChEBI:CHEBI:57540;
Pathway:		Protein modification; eIF5A hypusination. {ECO:0000269\|PubMed:30661771}.
Subunit:		Homotetramer formed by a dimer of dimers. {ECO:0000269\|PubMed:15100216, ECO:0000269\|PubMed:9405486, ECO:0000269\|PubMed:9493264}.
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.
Miscellaneous:		[Isoform Short]: Inactive. {ECO:0000305}.
Similarity:		Belongs to the deoxyhypusine synthase family. {ECO:0000305}.
Sequence caution:		Sequence=AL520040; Type=Frameshift; Evidence={ECO:0000305};