QuickView for PNPase (gene)

Gene Symbol:

PNPT1 Homo sapiens

Full name:

polyribonucleotide nucleotidyltransferase 1

Synonyms:

COXPD13, DFNB70, OLD35, PNPASE, old-35, polyribonucleotide nucleotidyltransferase 1, mitochondrial, 3'-5' RNA exonuclease OLD35, PNPase 1, PNPase old-35, polynucleotide phosphorylase 1, polynucleotide phosphorylase-like protein

Genomic Location:

Chr 2: 55715956-55774463

Description:

The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to mitochondria. Mutation...

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The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GGGCGGR_SP1_Q6 ,  KMCATNNWGGA_UNKNOWN

Cytogenetic Map:

2p16.1

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