Property Summary

NCBI Gene PubMed Count 15
PubMed Score 27.16
PubTator Score 24.42

Knowledge Summary

Patent

No data available

Expression

Protein-protein Interaction (1)

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.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12621583 2003 Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11527402 2001 Cloning, structure, and expression of the mouse Ovca1 gene.
11013075 2000 Identification and structural analysis of human RBM8A and RBM8B: two highly conserved RNA-binding motif proteins that interact with OVCA1, a candidate tumor suppressor.
10519411 1999 Expression of OVCA1, a candidate tumor suppressor, is reduced in tumors and inhibits growth of ovarian cancer cells.
8616839 1996 Identification of two candidate tumor suppressor genes on chromosome 17p13.3.
8603384 1996 A cDNA from the ovarian cancer critical region of deletion on chromosome 17p13.3.