Human Gene DNPH1 (ENST00000230431.11_8) from GENCODE V47lift37
  Description: 2'-deoxynucleoside 5'-phosphate N-hydrolase 1, transcript variant 1 (from RefSeq NM_006443.3)
Gencode Transcript: ENST00000230431.11_8
Gencode Gene: ENSG00000112667.13_9
Transcript (Including UTRs)
   Position: hg19 chr6:43,193,367-43,197,219 Size: 3,853 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr6:43,193,471-43,197,194 Size: 3,724 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:43,193,367-43,197,219)mRNA (may differ from genome)Protein (174 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RCL_HUMAN
DESCRIPTION: RecName: Full=Deoxyribonucleoside 5'-monophosphate N-glycosidase; EC=3.2.2.-; AltName: Full=c-Myc-responsive protein Rcl;
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 (By similarity).
CATALYTIC ACTIVITY: A deoxyribonucleoside 5'-monophosphate + H(2)0 = deoxyribose 5-monophosphate + a purine or pyrimidine base.
SUBUNIT: Monomer and homodimer (By similarity).
SUBCELLULAR LOCATION: Nucleus (By similarity). Cytoplasm.
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.
INDUCTION: Expression is induced by ETV1.
SIMILARITY: Belongs to the deoxyribonucleoside 5'-monophosphate N- glycosidase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DNPH1
Diseases sorted by gene-association score: mixed liposarcoma (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 50.40 RPKM in Kidney - Cortex
Total median expression: 1048.54 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -6.9025-0.276 Picture PostScript Text
3' UTR -8.30104-0.080 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007710 - Nucleoside_deoxyribTrfase

Pfam Domains:
PF05014 - Nucleoside 2-deoxyribosyltransferase

SCOP Domains:
52309 - N-(deoxy)ribosyltransferase-like

ModBase Predicted Comparative 3D Structure on O43598
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0016787 hydrolase activity
GO:0016798 hydrolase activity, acting on glycosyl bonds
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0070694 deoxyribonucleoside 5'-monophosphate N-glycosidase activity

Biological Process:
GO:0006195 purine nucleotide catabolic process
GO:0008152 metabolic process
GO:0008283 cell proliferation
GO:0009117 nucleotide metabolic process
GO:0009159 deoxyribonucleoside monophosphate catabolic process
GO:0030307 positive regulation of cell growth
GO:0030855 epithelial cell differentiation

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC011683 - Homo sapiens chromosome 6 open reading frame 108, mRNA (cDNA clone MGC:19540 IMAGE:3633266), complete cds.
EU585603 - Homo sapiens Rcl mRNA, complete cds.
AF040105 - Homo sapiens RCL (Rcl) mRNA, complete cds.
JD465119 - Sequence 446143 from Patent EP1572962.
JD244742 - Sequence 225766 from Patent EP1572962.
KJ893086 - Synthetic construct Homo sapiens clone ccsbBroadEn_02480 C6orf108 gene, encodes complete protein.
JD019564 - Sequence 588 from Patent EP1572962.
JD031107 - Sequence 12131 from Patent EP1572962.
JD278661 - Sequence 259685 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O43598 (Reactome details) participates in the following event(s):

R-HSA-8953339 DNPH1 hydrolyses dGMP
R-HSA-74259 Purine catabolism
R-HSA-8956319 Nucleobase catabolism
R-HSA-15869 Metabolism of nucleotides
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B2LUJ9, C6orf108 , DNPH1 , DNPH1_HUMAN, ENST00000230431.1, ENST00000230431.10, ENST00000230431.2, ENST00000230431.3, ENST00000230431.4, ENST00000230431.5, ENST00000230431.6, ENST00000230431.7, ENST00000230431.8, ENST00000230431.9, NM_006443, O43598, RCL , uc317dss.1, uc317dss.2
UCSC ID: ENST00000230431.11_8
RefSeq Accession: NM_006443.3
Protein: O43598 (aka RCL_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.