DPH5
entrez
51611
canonical
uniprot
Q9H2P9
canonical
ensembl
ENSG00000117543
resolver
ensp
ENSP00000339630
resolver
ensp
ENSP00000359127
resolver
ensp
ENSP00000418282
resolver
ensp
ENSP00000559785
resolver
ensp
ENSP00000667172
resolver
ensp
ENSP00000667178
resolver
genesymbol
DPH5
resolver
hgnc
HGNC:24270
resolver
uniprot
A8JZY6
resolver
uniprot
B3KWP1
resolver
uniprot
D3DT62
resolver
uniprot
D3DT65
resolver
uniprot
Q9P017
resolver
uniprot
Q9P0I4
resolver
uniprot
Q9Y319
resolver
uniprot_entry
B3KWP1_HUMAN
resolver
uniprot_entry
DPH5_HUMAN
resolver
uniprot_sec
A8JZY6
resolver
uniprot_sec
D3DT62
resolver
uniprot_sec
D3DT65
resolver
uniprot_sec
Q9P017
resolver
uniprot_sec
Q9P0I4
resolver
uniprot_sec
Q9Y319
resolver
amino_acid_sequence
MLYLIGLGLGDAKDITVKGLEVVRRCSRVYLEAYTSVLTVGKEALEEFYGRKLVVADREEVEQEADNILKDADISDVAFLVVGDPFGATTHSDLVLRATKLGIPYRVIHNASIMNAVGCCGLQLYKFGETVSIVFWTDTWRPESFFDKVKKNRQNGMHTLCLLDIKVKEQSLENLIKGRKIYEPPRYMSVNQAAQQLLEIVQNQRIRGEEPAVTEETLCVGLARVGADDQKIAAGTLRQMCTVDLGEPLHSLIITGGSIHPMEMEMLSLFSIPENSSESQSINGL
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties (NEDSFF) [MIM:620070]: An autosomal recessive disorder characterized by distinct craniofacial features, multisystem dysfunction, profound neurodevelopmental delays, and neonatal death. {ECO:0000269|PubMed:35482014}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.1.314
uniprot
proteins
function
FUNCTION: S-adenosyl-L-methionine-dependent methyltransferase that catalyzes four methylations of the modified target histidine residue in translation elongation factor 2 (EF-2), to form an intermediate called diphthine methyl ester. The four successive methylation reactions represent the second step of diphthamide biosynthesis. {ECO:0000250|UniProtKB:P32469, ECO:0000269|PubMed:23486472}.
uniprot
proteins
mass_dalton
31651
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; peptidyl-diphthamide biosynthesis.
uniprot
proteins
protein_family
Diphthine synthase family
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
10931946
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23486472
uniprot
proteins
pubmed
35482014
uniprot
proteins
pubmed
36205747
uniprot
proteins
sequence_length
285
uniprot
proteins