| Type | Description |
|---|---|
| Definition | diphthamide biosynthesis 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-06 13:56:00 | DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. | 30877278 |
| 2021-01-02 12:53:00 | Identification of the transcription factor Miz1 as an essential regulator of diphthamide biosynthesis using a CRISPR-mediated genome-wide screen. | 33057331 |
| 2018-09-08 11:21:00 | novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features | 29410513 |
| 2018-09-08 11:16:00 | We used WES to identify novel compound heterozygous mutations in DPH1 (c.289delG, p.Glu97Lysfs*8 and c.491T>C, p.Leu164Pro) in a patient from a nonconsanguineous family presenting with intellectual disability, a short stature, craniofacial abnormalities, and external genital abnormalities. | 29362492 |
| 2018-01-20 12:06:00 | DPH1 functions as an oncogene in CRC and can be negatively modulated by miR-218-5p to promote CRC tumourigenesis. | 29145210 |
| Type | IDs |
|---|---|
| Synonymous | DEDSSH, DPH2L, DPH2L1, OVCA1 |
| Gene |
UniProtKB-ID:
DPH1_HUMAN
UniprotKB:
Q9BZG8
UniParc:
UPI00015D7748,
UPI000013D3A0,
UPI000006E791
EMBL:
CH471108,
U34880,
S81752,
BC096088,
BT019878,
BC003099,
AF321876,
AC099684
Ensembl:
ENSG00000108963
KO:
hsa:1801
|
| Nucleutide sequences |
EMBL-CDS:
AAB36297.1,
AAH96088.1,
EAW90569.1,
AAD10198.1,
AAV38681.1,
AAH03099.2,
EAW90567.1,
AAK13428.1
Ensembl_TRS:
ENST00000674200,
ENST00000570477
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000458726,
ENSP00000501368
RefSeq:
NP_001333503.1,
NP_001333505.1,
NP_001333504.1,
NP_001374.4
|
| Others |
UniRef100:
UniRef100_Q9BZG8
UniRef90:
UniRef90_Q9BZG8
UniRef50:
UniRef50_Q9BZG8
UniGene:
Hs.513856
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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