The protein encoded by this gene is an enzyme involved in the biosynthesis of diphthamide, a modified histidine found only in elongation factor-2 (EEF2). Diphthamide residues in EEF2 are targeted for ADP-ribosylation by diphtheria toxin and Pseudomonas exotoxin A. Defects in this gene have been associated with both ovarian cancer and autosomal recessive intellectual disability ... See more...

Aliases for DPH1 Gene

Aliases for DPH1 Gene

  • Diphthamide Biosynthesis 1 2 3 5
  • S-Adenosyl-L-Methionine:L-Histidine 3-Amino-3-Carboxypropyltransferase 1 3 4
  • 2-(3-Amino-3-Carboxypropyl)Histidine Synthase Subunit 1 3 4
  • Ovarian Cancer-Associated Gene 1 Protein 3 4
  • Diphtheria Toxin Resistance Protein 1 3 4
  • Ovarian Tumor Suppressor Candidate 1 2 3
  • Diphthamide Biosynthesis Protein 1 3 4
  • DPH2L1 3 4
  • DPH2L 3 4
  • OVCA1 3 4
  • Diptheria Toxin Resistance Protein Required For Diphthamide Biosynthesis (Saccharomyces)-Like 1 3
  • Diptheria Toxin Resistance Protein Required For Diphthamide Biosynthesis-Like 1 (S. Cerevisiae) 2
  • Diphthamide Biosynthesis Protein 2 Homolog-Like 1 3
  • Candidate Tumor Suppressor In Ovarian Cancer 1 3
  • DPH1 Homolog (S. Cerevisiae) 2
  • DPH-Like 1 (S. Cerevisiae) 2
  • DPH1 Homolog 3
  • EC 2.5.1.108 4
  • DPH2-Like 1 3
  • DPH-Like 1 3
  • DEDSSH 3

External Ids for DPH1 Gene

Previous HGNC Symbols for DPH1 Gene

  • DPH2L
  • DPH2L1

Previous GeneCards Identifiers for DPH1 Gene

  • GC17P001881
  • GC17P001933

Summaries for DPH1 Gene

Entrez Gene Summary for DPH1 Gene

  • The protein encoded by this gene is an enzyme involved in the biosynthesis of diphthamide, a modified histidine found only in elongation factor-2 (EEF2). Diphthamide residues in EEF2 are targeted for ADP-ribosylation by diphtheria toxin and Pseudomonas exotoxin A. Defects in this gene have been associated with both ovarian cancer and autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. [provided by RefSeq, Oct 2016]

GeneCards Summary for DPH1 Gene

DPH1 (Diphthamide Biosynthesis 1) is a Protein Coding gene. Diseases associated with DPH1 include Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair and Dandy-Walker Syndrome. Among its related pathways are Metabolism of proteins and Gamma carboxylation, hypusine formation and arylsulfatase activation. An important paralog of this gene is DPH2.

UniProtKB/Swiss-Prot Summary for DPH1 Gene

  • Required for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2). When overexpressed, suppresses colony formation ability and growth rate of ovarian cancer cells. Acts also as a tumor suppressor in lung and breast cancers (By similarity). Plays a role in embryonic growth, organogenesis and postnatal survival (By similarity).

Gene Wiki entry for DPH1 Gene

Additional gene information for DPH1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DPH1 Gene

Genomics for DPH1 Gene

GeneHancer (GH) Regulatory Elements for DPH1 Gene

Promoters and enhancers for DPH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J002029 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 514.7 +0.7 691 3.2 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 MYC TCF12 POLR2G USF1 DPH1 RPA1 SMYD4 TSR1 PRPF8 SRR METTL16 SMG6 RTN4RL1 piR-36609
GH17J002028 Enhancer 0.9 Ensembl CraniofacialAtlas dbSUPER 514.9 -1.7 -1674 1.3 ZNF10 ZIC2 ZNF341 NFIC ZFHX2 KLF17 ZFP91 EGR1 CTCF CREM DPH1 RTN4RL1 RF00017-2214
GH17J002261 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 37.6 +235.0 234980 7.3 ZBTB40 ZNF300 SP1 JUND FOS EP300 RELA MEF2C RCOR1 TRIM22 SMG6 HNRNPA1P16 SRR ENSG00000263050 DPH1 METTL16 ENSG00000262050 ENSG00000263345 TSR1 MNT
GH17J001114 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 29.7 -914.6 -914559 2.4 ZNF217 ZSCAN5C TCF12 POLR2G JUND FOS ZFX ZNF639 ZNF10 ZIC2 PRPF8 SMYD4 RPA1 DPH1 GEMIN4 WDR81 NXN TLCD3A ENSG00000278794 RF00017-2204
GH17J002053 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 17.4 +33.3 33328 20.4 RXRA HNRNPK CTCF SIN3A NRF1 SP1 NCOR1 TEAD4 FOS ZNF639 HIC1 lnc-SMG6-5 DPH1 SRR LOC101927839 ENSG00000236457 ENSG00000236838 SNORD91A SNORD91B SGSM2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DPH1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DPH1

Top Transcription factor binding sites by QIAGEN in the DPH1 gene promoter:
  • c-Myc
  • Chx10
  • GATA-2
  • LUN-1
  • Max1
  • NCX
  • NF-1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for DPH1 Gene

Genomic Locations for DPH1 Gene
chr17:2,030,110-2,043,431
(GRCh38/hg38)
Size:
13,322 bases
Orientation:
Plus strand
chr17:1,933,404-1,946,725
(GRCh37/hg19)
Size:
13,322 bases
Orientation:
Plus strand

Genomic View for DPH1 Gene

Genes around DPH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DPH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DPH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DPH1 Gene

Proteins for DPH1 Gene

  • Protein details for DPH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZG8-DPH1_HUMAN
    Recommended name:
    2-(3-amino-3-carboxypropyl)histidine synthase subunit 1
    Protein Accession:
    Q9BZG8
    Secondary Accessions:
    • D3DTI3
    • Q16439
    • Q4VBA2
    • Q9BTW7
    • Q9UCY0

    Protein attributes for DPH1 Gene

    Size:
    443 amino acids
    Molecular mass:
    48805 Da
    Quaternary structure:
    • Interacts with DPH2 (By similarity). Interacts with RBM8A.

    Alternative splice isoforms for DPH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DPH1 Gene

Post-translational modifications for DPH1 Gene

  • Ubiquitination at Lys64, Lys261, and Lys288
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DPH1 Gene

Domains & Families for DPH1 Gene

Gene Families for DPH1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for DPH1 Gene

Blocks:
  • Diphthamide synthesis DPH2 protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DPH1 Gene

GenScript: Design optimal peptide antigens:
  • Ovarian cancer-associated gene 1 protein (DPH1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BZG8

UniProtKB/Swiss-Prot:

DPH1_HUMAN :
  • Belongs to the DPH1/DPH2 family. DPH1 subfamily.
Family:
  • Belongs to the DPH1/DPH2 family. DPH1 subfamily.
genes like me logo Genes that share domains with DPH1: view

Function for DPH1 Gene

Molecular function for DPH1 Gene

UniProtKB/Swiss-Prot Function:
Required for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2). When overexpressed, suppresses colony formation ability and growth rate of ovarian cancer cells. Acts also as a tumor suppressor in lung and breast cancers (By similarity). Plays a role in embryonic growth, organogenesis and postnatal survival (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-histidyl-[translation elongation factor 2] + S-adenosyl-L-methionine = 2-[(3S)-amino-3-carboxypropyl]-L-histidyl-[translation elongation factor 2] + H(+) + S-methyl-5'-thioadenosine; Xref=Rhea:RHEA:36783, Rhea:RHEA-COMP:9748, Rhea:RHEA-COMP:9749, ChEBI:CHEBI:15378, ChEBI:CHEBI:17509, ChEBI:CHEBI:29979, ChEBI:CHEBI:59789, ChEBI:CHEBI:73995; EC=2.5.1.108; Evidence=. ;.

Enzyme Numbers (IUBMB) for DPH1 Gene

Phenotypes From GWAS Catalog for DPH1 Gene

Gene Ontology (GO) - Molecular Function for DPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with DPH1: view
genes like me logo Genes that share phenotypes with DPH1: view

Human Phenotype Ontology for DPH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DPH1 Gene

MGI Knock Outs for DPH1:

miRNA for DPH1 Gene

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for DPH1 Gene

Localization for DPH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DPH1 Gene

Nucleus. Cytoplasm. Note=Punctate, primarily perinuclear localization.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DPH1 gene
Compartment Confidence
nucleus 4
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cell Junctions (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0030054 cell junction IDA --
genes like me logo Genes that share ontologies with DPH1: view

Pathways & Interactions for DPH1 Gene

genes like me logo Genes that share pathways with DPH1: view

UniProtKB/Swiss-Prot Q9BZG8-DPH1_HUMAN

  • Pathway: Protein modification; peptidyl-diphthamide biosynthesis.

Gene Ontology (GO) - Biological Process for DPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008283 cell proliferation IEA --
GO:0017183 peptidyl-diphthamide biosynthetic process from peptidyl-histidine IEA,TAS --
genes like me logo Genes that share ontologies with DPH1: view

No data available for SIGNOR curated interactions for DPH1 Gene

Drugs & Compounds for DPH1 Gene

(1) Drugs for DPH1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for DPH1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DPH1: view

Transcripts for DPH1 Gene

mRNA/cDNA for DPH1 Gene

4 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DPH1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c · 8d ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c ^
SP1: - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - -
SP4: - - - - - -
SP5: - -
SP6:
SP7: - - - - -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 13 ^ 14 ^ 15a · 15b · 15c · 15d · 15e
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11: -
SP12:
SP13:

Relevant External Links for DPH1 Gene

GeneLoc Exon Structure for
DPH1

Expression for DPH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DPH1 Gene

Protein differential expression in normal tissues from HIPED for DPH1 Gene

This gene is overexpressed in Lymph node (23.9), Placenta (14.6), Liver (11.4), and Testis (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DPH1 Gene



Protein tissue co-expression partners for DPH1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DPH1

SOURCE GeneReport for Unigene cluster for DPH1 Gene:

Hs.513856

mRNA Expression by UniProt/SwissProt for DPH1 Gene:

Q9BZG8-DPH1_HUMAN
Tissue specificity: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, mammary gland, colon, small intestine, testis and ovary. Reduced expression in primary breast and ovarian tumors.

Evidence on tissue expression from TISSUES for DPH1 Gene

  • Nervous system(4.7)
  • Eye(2)
genes like me logo Genes that share expression patterns with DPH1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DPH1 Gene

Orthologs for DPH1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DPH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DPH1 31 30
  • 99.25 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DPH1 31 30
  • 89.91 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dph1 17 31 30
  • 84.63 (n)
rat
(Rattus norvegicus)
Mammalia Dph1 30
  • 84.55 (n)
dog
(Canis familiaris)
Mammalia DPH1 31
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DPH1 31
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DPH1 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves DPH1 31 30
  • 73.78 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DPH1 31
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dph1 30
  • 66.67 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.10630 30
zebrafish
(Danio rerio)
Actinopterygii dph1 31 30
  • 69.77 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11652 31 30
  • 60.93 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea dph-1 31 30
  • 54.88 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F03971g 30
  • 55.52 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL229W 30
  • 55.15 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DPH1 33 31 30
  • 53.89 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G62030 30
  • 55.13 (n)
rice
(Oryza sativa)
Liliopsida Os02g0815600 30
  • 56.35 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08503 30
  • 61.84 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC3B8.05 30
  • 55.64 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 55 (a)
OneToOne
Cin.5667 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5667 30
Species where no ortholog for DPH1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DPH1 Gene

ENSEMBL:
Gene Tree for DPH1 (if available)
TreeFam:
Gene Tree for DPH1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DPH1: view image

Paralogs for DPH1 Gene

Paralogs for DPH1 Gene

genes like me logo Genes that share paralogs with DPH1: view

Variants for DPH1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DPH1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
664140 Pathogenic: not provided 2,033,836(+) TG/T FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
708593 Likely Benign: not provided 2,041,789(+) C/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
719086 Likely Benign: not provided 2,036,831(+) A/G INTRON_VARIANT
722503 Likely Benign: not provided 2,041,487(+) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
726451 Likely Benign: not provided 2,040,312(+) G/T SPLICE_DONOR_VARIANT,MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for DPH1 Gene

Structural Variations from Database of Genomic Variants (DGV) for DPH1 Gene

Variant ID Type Subtype PubMed ID
esv23494 CNV loss 19812545
esv2715488 CNV deletion 23290073
esv2715489 CNV deletion 23290073
esv33335 CNV loss 17666407
nsv574216 CNV gain 21841781
nsv827857 CNV gain 20364138
nsv952102 CNV deletion 24416366

Variation tolerance for DPH1 Gene

Residual Variation Intolerance Score: 94% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.27; 76.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DPH1 Gene

Human Gene Mutation Database (HGMD)
DPH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DPH1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DPH1 Gene

Disorders for DPH1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for DPH1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
developmental delay with short stature, dysmorphic facial features, and sparse hair
  • dedssh
dandy-walker syndrome
  • dws
hydrocephalus
  • hydrocephalus, nonsyndromic, autosomal recessive
diphtheria
  • corynebacterium infection
ovarian cancer
  • ovarian cancer, somatic
- elite association - COSMIC cancer census association via MalaCards
Search DPH1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DPH1_HUMAN
  • Developmental delay with short stature, dysmorphic features, and sparse hair (DEDSSH) [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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DPH1

genes like me logo Genes that share disorders with DPH1: view

No data available for Genatlas for DPH1 Gene

Publications for DPH1 Gene

  1. A cDNA from the ovarian cancer critical region of deletion on chromosome 17p13.3. (PMID: 8603384) Phillips NJ … Deaven LL (Cancer letters 1996) 2 3 4 23 54
  2. Identification of the proteins required for biosynthesis of diphthamide, the target of bacterial ADP-ribosylating toxins on translation elongation factor 2. (PMID: 15485916) Liu S … Leppla SH (Molecular and cellular biology 2004) 2 3 23 54
  3. Identification and structural analysis of human RBM8A and RBM8B: two highly conserved RNA-binding motif proteins that interact with OVCA1, a candidate tumor suppressor. (PMID: 11013075) Salicioni AM … Godwin AK (Genomics 2000) 3 4 23 54
  4. Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. (PMID: 26220823) Loucks CM … Innes AM (Human mutation 2015) 3 4 54
  5. Diphthamide modification on eukaryotic elongation factor 2 is needed to assure fidelity of mRNA translation and mouse development. (PMID: 22869748) Liu S … Leppla SH (Proceedings of the National Academy of Sciences of the United States of America 2012) 2 3 54

Products for DPH1 Gene

Sources for DPH1 Gene