DPH1
entrez
1801
canonical
uniprot
Q9BZG8
canonical
ensembl
ENSG00000108963
resolver
ensp
ENSP00000263083
resolver
ensp
ENSP00000654697
resolver
ensp
ENSP00000654700
resolver
genesymbol
DPH1
resolver
genesymbol_syn
DPH2L
resolver
genesymbol_syn
DPH2L1
resolver
genesymbol_syn
OVCA1
resolver
hgnc
HGNC:3003
resolver
uniprot
A0A6Q8JGF9
resolver
uniprot
D3DTI3
resolver
uniprot
Q16439
resolver
uniprot
Q4VBA2
resolver
uniprot
Q9BTW7
resolver
uniprot
Q9UCY0
resolver
uniprot_entry
DPH1_HUMAN
resolver
uniprot_sec
A0A6Q8JGF9
resolver
uniprot_sec
D3DTI3
resolver
uniprot_sec
Q16439
resolver
uniprot_sec
Q4VBA2
resolver
uniprot_sec
Q9BTW7
resolver
uniprot_sec
Q9UCY0
resolver
amino_acid_sequence
MAALVVSGAAEQGGRDGPGRGRAPRGRVANQIPPEILKNPQLQAAIRVLPSNYNFEIPKTIWRIQQAQAKKVALQMPEGLLLFACTIVDILERFTEAEVMVMGDVTYGACCVDDFTARALGADFLVHYGHSCLIPMDTSAQDFRVLYVFVDIRIDTTHLLDSLRLTFPPATALALVSTIQFVSTLQAAAQELKAEYRVSVPQCKPLSPGEILGCTSPRLSKEVEAVVYLGDGRFHLESVMIANPNVPAYRYDPYSKVLSREHYDHQRMQAARQEAIATARSAKSWGLILGTLGRQGSPKILEHLESRLRALGLSFVRLLLSEIFPSKLSLLPEVDVWVQVACPRLSIDWGTAFPKPLLTPYEAAVALRDISWQQPYPMDFYAGSSLGPWTVNHGQDRRPHAPGRPARGKVQEGSARPPSAVACEDCSCRDEKVAPLAP
uniprot
proteins
disease_involvement
DISEASE: Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 (DEDSSH1) [MIM:616901]: An autosomal recessive syndrome characterized by intellectual disability, short stature, and craniofacial and ectodermal anomalies including scaphocephaly with or without craniosynostosis, prominent forehead, sparse eyebrows and hair, hypoplastic toenails and, in some cases, dental anomalies. {ECO:0000269|PubMed:25558065, ECO:0000269|PubMed:26220823, ECO:0000269|PubMed:29362492, ECO:0000269|PubMed:30877278}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.5.1.108
uniprot
proteins
function
FUNCTION: Catalyzes the first step of diphthamide biosynthesis, a post-translational modification of histidine which occurs in elongation factor 2 (PubMed:30877278). DPH1 and DPH2 transfer a 3-amino-3-carboxypropyl (ACP) group from S-adenosyl-L-methionine (SAM) to a histidine residue, the reaction is assisted by a reduction system comprising DPH3 and a NADH-dependent reductase (By similarity). Acts as a tumor suppressor (PubMed:10519411). {ECO:0000250|UniProtKB:P40487, ECO:0000269|PubMed:10519411, ECO:0000269|PubMed:30877278}.
uniprot
proteins
mass_dalton
48134
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; peptidyl-diphthamide biosynthesis. {ECO:0000305}.
uniprot
proteins
protein_family
DPH1 subfamily
uniprot
proteins
protein_family
DPH1/DPH2 family
uniprot
proteins
pubmed
10519411
uniprot
proteins
pubmed
11013075
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
25558065
uniprot
proteins
pubmed
26220823
uniprot
proteins
pubmed
29362492
uniprot
proteins
pubmed
30877278
uniprot
proteins
pubmed
8603384
uniprot
proteins
pubmed
8616839
uniprot
proteins
sequence_length
438
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10519411}. Cytoplasm {ECO:0000269|PubMed:10519411}. Note=Punctate, primarily perinuclear localization. {ECO:0000269|PubMed:10519411}.
uniprot
proteins