Property Summary

NCBI Gene PubMed Count 15
Grant Count 6
R01 Count 6
Funding $417,158.33
PubMed Score 27.16
PubTator Score 24.42

Knowledge Summary

Patent

No data available

Expression

Gene RIF (3)

PMID Text
26220823 Results identified a second homozygous missense variant in DPH1, seen in four members of a founder population, and associated with autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies.
24070652 Methylation of the DPH1 promoter causes immunotoxin resistance in acute lymphoblastic leukemia.
21487939 OVCA1 could inhibit the proliferation of ovarian cancer cells by p16/cyclin D1 pathway, but not by NF-kappaB

AA Sequence

MRRQVMAALVVSGAAEQGGRDGPGRGRAPRGRVANQIPPEILKNPQLQAAIRVLPSNYNFEIPKTIWRIQ      1 - 70
QAQAKKVALQMPEGLLLFACTIVDILERFTEAEVMVMGDVTYGACCVDDFTARALGADFLVHYGHSCLIP     71 - 140
MDTSAQDFRVLYVFVDIRIDTTHLLDSLRLTFPPATALALVSTIQFVSTLQAAAQELKAEYRVSVPQCKP    141 - 210
LSPGEILGCTSPRLSKEVEAVVYLGDGRFHLESVMIANPNVPAYRYDPYSKVLSREHYDHQRMQAARQEA    211 - 280
IATARSAKSWGLILGTLGRQGSPKILEHLESRLRALGLSFVRLLLSEIFPSKLSLLPEVDVWVQVACPRL    281 - 350
SIDWGTAFPKPLLTPYEAAVALRDISWQQPYPMDFYAGSSLGPWTVNHGQDRRPHAPGRPARGKVQEGSA    351 - 420
RPPSAVACEDCSCRDEKVAPLAP                                                   421 - 443
//

Text Mined References (18)

PMID Year Title
26261303 2015 Loss of diphthamide pre-activates NF-?B and death receptor pathways and renders MCF7 cells hypersensitive to tumor necrosis factor.
26220823 2015 Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies.
25558065 2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
25416956 2014 A proteome-scale map of the human interactome network.
24070652 2013 Methylation of the DPH1 promoter causes immunotoxin resistance in acute lymphoblastic leukemia cell line KOPN-8.
22869748 2012 Diphthamide modification on eukaryotic elongation factor 2 is needed to assure fidelity of mRNA translation and mouse development.
21487939 2011 OVCA1 inhibits the proliferation of epithelial ovarian cancer cells by decreasing cyclin D1 and increasing p16.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15485916 2004 Identification of the proteins required for biosynthesis of diphthamide, the target of bacterial ADP-ribosylating toxins on translation elongation factor 2.
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