1. Gene
  2. DNPH1 - 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 Gene

DNPH1 - 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 Gene

Homo sapiens

Also known as RCL; C6orf108; dJ330M21.3

Gene ID: 10591 | Gene type: protein coding

About DNPH1

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:43,225,629-43,229,481 (from NCBI)

This gene has 4 transcripts (splice variants) and 163 orthologues. Broad expression in kidney (RPKM 65.7), duodenum (RPKM 28.6) and 23 other tissues.

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]

DNPH1 Products(2)

mRNA Protein Name
NM_006443.3 NP_006434.1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 isoform 1
NM_199184.2 NP_954653.1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 isoform 2

DNPH1 Protein Structure

Nuc_deoxyrib_tr

Nuc_deoxyrib_tr: Nucleoside 2-deoxyribosyltransferase (23 - 120)

  • 0
  • 100
  • 174 a.a.
Protein Preferred Names Protein Names

2'-deoxynucleoside 5'-phosphate N-hydrolase 1

c-Myc-responsive protein RCL

Related Diseases

Diseases Alias
Cardiomyopathy, Familial Restrictive, 1

RCM1

Restrictive Cardiomyopathy 1

Rcm

Familial Restrictive Cardiomyopathy 1

Cardiomyopathy, Familial Restrictive 1

Cardiomyopathy, Restrictive, Familial, Type 1

Rcm-1

Hypotrichosis 2

HYPT2

Hypotrichosis Simplex Of The Scalp 1

Htss1

Htss

Hypotrichosis, Spanish Type

Spanish Type Hypotrichosis

Hypotrichosis Spanish Type

Hypotrichosis, Type 2

Hypotrichosis Simplex Of Scalp

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus DNPH1 RGD RGD:620382
Felis catus DNPH1 VGNC VGNC:82473
Bos taurus DNPH1 VGNC VGNC:28149
Macaca mulatta DNPH1 VGNC VGNC:71877
Mus musculus DNPH1 MGD MGI:3039376
Canis familiaris DNPH1 VGNC VGNC:57238