DOHH
entrez
83475
canonical
uniprot
Q9BU89
canonical
ensembl
ENSG00000129932
resolver
ensp
ENSP00000398882
resolver
ensp
ENSP00000500806
resolver
ensp
ENSP00000573451
resolver
ensp
ENSP00000621833
resolver
ensp
ENSP00000748147
resolver
enst
ENST00000427575
resolver
enst
ENST00000672935
resolver
enst
ENST00000903392
resolver
enst
ENST00000951774
resolver
genesymbol
DOHH
resolver
genesymbol_syn
HLRC1
resolver
hgnc
HGNC:28662
resolver
uniprot
O75265
resolver
uniprot_entry
DOHH_HUMAN
resolver
uniprot_sec
O75265
resolver
amino_acid_sequence
MVTEQEVDAIGQTLVDPKQPLQARFRALFTLRGLGGPGAIAWISQAFDDDSALLKHELAYCLGQMQDARAIPMLVDVLQDTRQEPMVRHEAGEALGAIGDPEVLEILKQYSSDPVIEVAETCQLAVRRLEWLQQHGGEPAAGPYLSVDPAPPAEERDVGRLREALLDESRPLFERYRAMFALRNAGGEEAALALAEGLHCGSALFRHEVGYVLGQLQHEAAVPQLAAALARCTENPMVRHECAEALGAIARPACLAALQAHADDPERVVRESCEVALDMYEHETGRAFQYADGLEQLRGAPS
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment (NEDMVIC) [MIM:620066]: An autosomal recessive disorder characterized by global developmental delay, intellectual disability, facial dysmorphism, and microcephaly. {ECO:0000269|PubMed:35858628}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.99.29
uniprot
proteins
function
FUNCTION: Catalyzes the hydroxylation of the N(6)-(4-aminobutyl)-L-lysine intermediate produced by deoxyhypusine synthase/DHPS on a critical lysine of the eukaryotic translation initiation factor 5A/eIF-5A. This is the second step of the post-translational modification of that lysine into an unusual amino acid residue named hypusine (PubMed:16371467, PubMed:16533814, PubMed:19706422). Hypusination is unique to mature eIF-5A factor and is essential for its function (By similarity). {ECO:0000250|UniProtKB:Q99LN9, ECO:0000255|HAMAP-Rule:MF_03101, ECO:0000269|PubMed:16371467, ECO:0000269|PubMed:16533814, ECO:0000269|PubMed:19706422}.
uniprot
proteins
mass_dalton
32904
uniprot
proteins
mutagenesis
MUTAGEN 56; /note="H->A: Loss of deoxyhypusine monooxygenase activity. Loss of iron-binding."; /evidence="ECO:0000269|PubMed:16533814"; MUTAGEN 57; /note="E->A: Loss of deoxyhypusine monooxygenase activity. No effect on iron-binding."; /evidence="ECO:0000269|PubMed:16533814"; MUTAGEN 86; /note="M->A: Loss of iron-binding."; /evidence="ECO:0000269|PubMed:25865244"; MUTAGEN 86; /note="M->L: No effect on iron-binding. Loss of iron-binding; when associated with L-237."; /evidence="ECO:0000269|PubMed:25865244"; MUTAGEN 89; /note="H->A: Loss of deoxyhypusine monooxygenase activity. Loss of iron-binding."; /evidence="ECO:0000269|PubMed:16533814"; MUTAGEN 90; /note="E->A: Loss of deoxyhypusine monooxygenase activity. Loss of iron-binding."; /evidence="ECO:0000269|PubMed:16533814"; MUTAGEN 207; /note="H->A: Loss of deoxyhypusine monooxygenase activity. Loss of iron-binding."; /evidence="ECO:0000269|PubMed:16533814"; MUTAGEN 208; /note="E->A: Loss of deoxyhypusine monooxygenase activity. No effect on iron-binding."; /evidence="ECO:0000269|PubMed:16533814"; MUTAGEN 237; /note="M->L: Decreased iron-binding. Loss of iron-binding; when associated with L-86."; /evidence="ECO:0000269|PubMed:25865244"; MUTAGEN 240; /note="H->A: Loss of deoxyhypusine monooxygenase activity. Loss of iron-binding."; /evidence="ECO:0000269|PubMed:16533814"; MUTAGEN 241; /note="E->A: Loss of deoxyhypusine monooxygenase activity. Loss of iron-binding."; /evidence="ECO:0000269|PubMed:16533814
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; eIF5A hypusination. {ECO:0000255|HAMAP-Rule:MF_03101, ECO:0000269|PubMed:16371467, ECO:0000269|PubMed:16533814, ECO:0000269|PubMed:19706422}.
uniprot
proteins
protein_family
Deoxyhypusine hydroxylase family
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16371467
uniprot
proteins
pubmed
16533814
uniprot
proteins
pubmed
19706422
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
25865244
uniprot
proteins
pubmed
35858628
uniprot
proteins
sequence_length
302
uniprot
proteins