DNPH1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNPH1provided by HGNC
Official Full Name: 2'-deoxynucleoside 5'-phosphate N-hydrolase 1provided by HGNC
Primary source: HGNC:HGNC:21218
See related: Ensembl:ENSG00000112667 MIM:618762; AllianceGenome:HGNC:21218
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RCL; C6orf108; dJ330M21.3
Summary: 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]
Expression: Broad expression in kidney (RPKM 65.7), duodenum (RPKM 28.6) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (43225629..43229481, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (43054425..43058274, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (43193367..43197219, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Human 2'-Deoxynucleoside 5'-Phosphate N-Hydrolase 1: The Catalytic Roles of Tyr24 and Asp80.
Title: Human 2'-Deoxynucleoside 5'-Phosphate N-Hydrolase 1: The Catalytic Roles of Tyr24 and Asp80.
Targeting the nucleotide salvage factor DNPH1 sensitizes BRCA-deficient cells to PARP inhibitors.
Title: Targeting the nucleotide salvage factor DNPH1 sensitizes BRCA-deficient cells to PARP inhibitors.
analysis of human deoxynucleotide N-hydrolase Rcl and rat gene c6orf108
Title: Probing the active site of the deoxynucleotide N-hydrolase Rcl encoded by the rat gene c6orf108.
characterization of the human Rcl gene, we cloned its promoter, Rcl is a bona fide target gene of ETV1.
Title: Rcl is a novel ETV1/ER81 target gene upregulated in breast tumors.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 5-hydroxymethyl-dUMP N-hydrolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 5-hydroxymethyl-dUMP N-hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables 5-hydroxymethyl-dUMP N-hydrolase activity	ISS Inferred from Sequence or Structural Similarity more info
enables 5-hydroxymethyl-dUMP N-hydrolase activity	TAS Traceable Author Statement more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in deoxyribonucleoside monophosphate catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in deoxyribonucleoside monophosphate catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in deoxyribonucleoside monophosphate catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in epithelial cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in nucleoside salvage	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in purine nucleotide catabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: 5-hydroxymethyl-dUMP N-hydrolase

Names: c-Myc-responsive protein RCL; deoxyribonucleoside 5'-monophosphate N-glycosidase; putative c-Myc-responsive

NP_006434.1

EC 3.2.2.-

NP_954653.1

EC 3.2.2.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_006443.3 → NP_006434.1 5-hydroxymethyl-dUMP N-hydrolase isoform 1

See identical proteins and their annotated locations for NP_006434.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AL133375, BC011683, BM747628

Consensus CDS

CCDS4891.1

UniProtKB/Swiss-Prot

B2LUJ9, O43598

Related

ENSP00000230431.7, ENST00000230431.11

Conserved Domains (1) summary

cl23749
Location:23 → 126

TIR_2; TIR domain
NM_199184.2 → NP_954653.1 5-hydroxymethyl-dUMP N-hydrolase isoform 2

See identical proteins and their annotated locations for NP_954653.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes an additional segment in the 3' coding region, compared to variant 1, that causes a frameshift. The resulting protein (isoform 2) has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AF040105, AL133375, BC011683, BQ052226

Consensus CDS

CCDS43465.1

UniProtKB/Swiss-Prot

O43598

Related

ENSP00000377556.2, ENST00000393987.2

Conserved Domains (1) summary

cl23749
Location:23 → 141

TIR_2; TIR domain