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Aliases for DNPH1 Gene

Aliases for DNPH1 Gene

  • 2'-Deoxynucleoside 5'-Phosphate N-Hydrolase 1 2
  • 2-Deoxynucleoside 5-Phosphate N-Hydrolase 1 2 3 5
  • C6orf108 3 4
  • RCL 3 4
  • Deoxyribonucleoside 5-Monophosphate N-Glycosidase 3
  • Chromosome 6 Open Reading Frame 108 2
  • C-Myc-Responsive Protein Rcl 3
  • C-Myc-Responsive Protein RCL 4
  • Putative C-Myc-Responsive 3
  • DJ330M21.3 3
  • EC 3.2.2.- 4

External Ids for DNPH1 Gene

Previous HGNC Symbols for DNPH1 Gene

  • C6orf108

Summaries for DNPH1 Gene

Entrez Gene Summary for DNPH1 Gene

  • This gene was identified on the basis of its stimulation by c-Myc protein. The latter is a transcription factor that participates in the regulation of cell proliferation, differentiation, and apoptosis. The exact function of this gene is not known but studies in rat suggest a role in cellular proliferation and c-Myc-mediated transformation. Two alternative transcripts encoding different proteins have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for DNPH1 Gene

DNPH1 (2'-Deoxynucleoside 5'-Phosphate N-Hydrolase 1) is a Protein Coding gene. Diseases associated with DNPH1 include Mixed Liposarcoma. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and deoxyribonucleoside 5-monophosphate N-glycosidase activity.

UniProtKB/Swiss-Prot for DNPH1 Gene

  • Catalyzes the cleavage of the N-glycosidic bond of deoxyribonucleoside 5-monophosphates to yield deoxyribose 5-phosphate and a purine or pyrimidine base. Deoxyribonucleoside 5-monophosphates containing purine bases are preferred to those containing pyrimidine bases.

Additional gene information for DNPH1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNPH1 Gene

Genomics for DNPH1 Gene

GeneHancer (GH) Regulatory Elements for DNPH1 Gene

Promoters and enhancers for DNPH1 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
GH06I043228 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 580 +0.4 395 2 HDGF CLOCK MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 DNPH1 CUL7 ZNF318 ABCC10 POLH RPL24P4 GTPBP2 RPS2P29 POLR1C RPL34P14
GH06I043180 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 22.9 +47.3 47320 3.2 HDGF PKNOX1 CLOCK MLX ARNT ARID4B SIN3A DMAP1 YBX1 POLR2B CUL9 CUL7 ZNF318 POLH GTPBP2 RPS2P29 DNPH1 ABCC10 BICRAL XPO5
GH06I043169 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 18.7 +56.1 56125 6.8 FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 ZNF263 SP3 NFYC SRF CUL7 RPS2P29 ABCC10 DNPH1 GTPBP2 POLR1C UBR2 BICRAL ZNF318
GH06I043223 Enhancer 1.2 Ensembl ENCODE dbSUPER 29.7 +4.4 4409 3.3 HDGF PKNOX1 SMAD1 KLF5 TCF12 GATA2 EGR1 ZNF143 ATF7 BCLAF1 ENSG00000245261 DNPH1 CUL7 CUL9
GH06I043261 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 27.2 -32.9 -32881 1.4 ELF3 SAP130 CEBPG ZIC2 ZNF644 RAD21 ZNF48 ZSCAN9 RARA TEAD3 DNPH1 SLC22A7 ZNF318 CRIP3 RPL12P47 DLK2 ENSG00000245261 CUL9 YIPF3 LRRC73
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DNPH1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for DNPH1 Gene

Genomic Locations for DNPH1 Gene
chr6:43,225,629-43,229,484
(GRCh38/hg38)
Size:
3,856 bases
Orientation:
Minus strand
chr6:43,193,367-43,197,222
(GRCh37/hg19)

Genomic View for DNPH1 Gene

Genes around DNPH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNPH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNPH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNPH1 Gene

Proteins for DNPH1 Gene

  • Protein details for DNPH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43598-DNPH1_HUMAN
    Recommended name:
    2-deoxynucleoside 5-phosphate N-hydrolase 1
    Protein Accession:
    O43598
    Secondary Accessions:
    • B2LUJ9

    Protein attributes for DNPH1 Gene

    Size:
    174 amino acids
    Molecular mass:
    19108 Da
    Quaternary structure:
    • Monomer and homodimer.

    Three dimensional structures from OCA and Proteopedia for DNPH1 Gene

    Alternative splice isoforms for DNPH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNPH1 Gene

Post-translational modifications for DNPH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNPH1 Gene

No data available for DME Specific Peptides for DNPH1 Gene

Domains & Families for DNPH1 Gene

Gene Families for DNPH1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DNPH1 Gene

Suggested Antigen Peptide Sequences for DNPH1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43598

UniProtKB/Swiss-Prot:

DNPH1_HUMAN :
  • Belongs to the 2-deoxynucleoside 5-phosphate N-hydrolase 1 family.
Family:
  • Belongs to the 2-deoxynucleoside 5-phosphate N-hydrolase 1 family.
genes like me logo Genes that share domains with DNPH1: view

Function for DNPH1 Gene

Molecular function for DNPH1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=57 uM for dGMP {ECO:0000269 PubMed:24260472}; KM=97 uM for dAMP {ECO:0000269 PubMed:24260472}; KM=104 uM for dIMP {ECO:0000269 PubMed:24260472}; KM=2500 uM for dCMP {ECO:0000269 PubMed:24260472}; KM=7800 uM for dUMP {ECO:0000269 PubMed:24260472}; KM=25000 uM for dTMP {ECO:0000269 PubMed:24260472}; Note=kcat is 0.002 sec(-1) with dGMP as substrate. kcat is 0.0025 sec(-1) with dAMP as substrate. kcat is 0.0016 sec(-1) with dIMP as substrate. kcat is 0.2 sec(-1) with dUMP as substrate. kcat is 0.0083 sec(-1) with dCMP as substrate. kcat is 0.025 sec(-1) with dTMP as substrate. {ECO:0000269 PubMed:24260472};
UniProtKB/Swiss-Prot CatalyticActivity:
A deoxyribonucleoside 5-monophosphate + H(2)0 = deoxyribose 5-monophosphate + a purine or pyrimidine base.
UniProtKB/Swiss-Prot Function:
Catalyzes the cleavage of the N-glycosidic bond of deoxyribonucleoside 5-monophosphates to yield deoxyribose 5-phosphate and a purine or pyrimidine base. Deoxyribonucleoside 5-monophosphates containing purine bases are preferred to those containing pyrimidine bases.
UniProtKB/Swiss-Prot Induction:
Expression is induced by ETV1.

Enzyme Numbers (IUBMB) for DNPH1 Gene

Phenotypes From GWAS Catalog for DNPH1 Gene

Gene Ontology (GO) - Molecular Function for DNPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21044950
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
GO:0042802 identical protein binding IPI 16189514
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with DNPH1: view
genes like me logo Genes that share phenotypes with DNPH1: view

Animal Model Products

CRISPR Products

miRNA for DNPH1 Gene

miRTarBase miRNAs that target DNPH1

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DNPH1 Gene

Localization for DNPH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNPH1 Gene

Cytoplasm. Nucleus.

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 DNPH1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DNPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS,TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA,HDA 19056867
genes like me logo Genes that share ontologies with DNPH1: view

Pathways & Interactions for DNPH1 Gene

SuperPathways for DNPH1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DNPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006195 purine nucleotide catabolic process TAS --
GO:0008152 metabolic process IEA --
GO:0008283 cell proliferation TAS 9271375
GO:0009117 nucleotide metabolic process IEA --
GO:0009159 deoxyribonucleoside monophosphate catabolic process ISS --
genes like me logo Genes that share ontologies with DNPH1: view

No data available for Pathways by source and SIGNOR curated interactions for DNPH1 Gene

Drugs & Compounds for DNPH1 Gene

(1) Additional Compounds for DNPH1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Deoxyribose 5-monophosphate
genes like me logo Genes that share compounds with DNPH1: view

Transcripts for DNPH1 Gene

Unigene Clusters for DNPH1 Gene

2-deoxynucleoside 5-phosphate N-hydrolase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNPH1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c
SP1: -
SP2:
SP3: -

Relevant External Links for DNPH1 Gene

GeneLoc Exon Structure for
DNPH1
ECgene alternative splicing isoforms for
DNPH1

Expression for DNPH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DNPH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DNPH1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (7.9) and Nasal epithelium (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DNPH1 Gene



Protein tissue co-expression partners for DNPH1 Gene

NURSA nuclear receptor signaling pathways regulating expression of DNPH1 Gene:

DNPH1

SOURCE GeneReport for Unigene cluster for DNPH1 Gene:

Hs.109752

mRNA Expression by UniProt/SwissProt for DNPH1 Gene:

O43598-DNPH1_HUMAN
Tissue specificity: Expressed at low levels in brain, colon, lung, peripheral blood leukocytes, placenta, small intestine, and thymus. Expressed at high levels in heart, kidney, liver, skeletal muscle and spleen. Overexpressed in a significant proportion of breast cancers.

Evidence on tissue expression from TISSUES for DNPH1 Gene

  • Kidney(4.4)
  • Liver(4.4)
  • Muscle(2.6)
genes like me logo Genes that share expression patterns with DNPH1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNPH1 Gene

Orthologs for DNPH1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DNPH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C6ORF108 34
  • 100 (a)
OneToOne
C6H6orf108 33
  • 100 (n)
dog
(Canis familiaris)
Mammalia DNPH1 34
  • 89 (a)
OneToOne
C12H6orf108 33
  • 87.61 (n)
cow
(Bos Taurus)
Mammalia C23H6orf108 33
  • 84.08 (n)
DNPH1 34
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dnph1 33 16 34
  • 80.48 (n)
rat
(Rattus norvegicus)
Mammalia Dnph1 33
  • 79.96 (n)
oppossum
(Monodelphis domestica)
Mammalia DNPH1 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10127 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.29697 33
zebrafish
(Danio rerio)
Actinopterygii dnph1 33 34
  • 63.99 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6455 34
  • 45 (a)
OneToOne
Species where no ortholog for DNPH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DNPH1 Gene

ENSEMBL:
Gene Tree for DNPH1 (if available)
TreeFam:
Gene Tree for DNPH1 (if available)

Paralogs for DNPH1 Gene

No data available for Paralogs for DNPH1 Gene

Variants for DNPH1 Gene

Sequence variations from dbSNP and Humsavar for DNPH1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000202039 -- 43,231,028(-) A/G upstream_transcript_variant
rs1000658896 -- 43,230,743(-) C/A/T upstream_transcript_variant
rs1000816985 -- 43,226,474(-) C/T intron_variant
rs1000857876 -- 43,226,776(-) C/T intron_variant
rs1002404595 -- 43,227,287(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DNPH1 Gene

Variant ID Type Subtype PubMed ID
nsv1017398 CNV gain 25217958
nsv602997 CNV loss 21841781

Variation tolerance for DNPH1 Gene

Residual Variation Intolerance Score: 57.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.31; 6.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNPH1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNPH1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNPH1 Gene

Disorders for DNPH1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DNPH1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
mixed liposarcoma
  • mixed-type liposarcoma
- elite association - COSMIC cancer census association via MalaCards
Search DNPH1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DNPH1

genes like me logo Genes that share disorders with DNPH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DNPH1 Gene

Publications for DNPH1 Gene

  1. Identification of putative c-Myc-responsive genes: characterization of rcl, a novel growth-related gene. (PMID: 9271375) Lewis BC … Dang CV (Molecular and cellular biology 1997) 2 3 4 22 58
  2. 6-(Hetero)Arylpurine nucleotides as inhibitors of the oncogenic target DNPH1: synthesis, structural studies and cytotoxic activities. (PMID: 25108359) Amiable C … Pochet S (European journal of medicinal chemistry 2014) 3 4 58
  3. Rcl is a novel ETV1/ER81 target gene upregulated in breast tumors. (PMID: 18726892) Shin S … Janknecht R (Journal of cellular biochemistry 2008) 3 4 58
  4. The c-Myc target gene Rcl (C6orf108) encodes a novel enzyme, deoxynucleoside 5'-monophosphate N-glycosidase. (PMID: 17234634) Ghiorghi YK … Kaminski PA (The Journal of biological chemistry 2007) 2 3 58
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58

Products for DNPH1 Gene

Sources for DNPH1 Gene

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