PNLDC1 - PARN like ribonuclease domain containing exonuclease 1 Gene

Homo sapiens

Also known as SPGF57; Trimmer; HsPNLDC1

Gene ID: 154197 | Gene type: protein coding

About PNLDC1

Cytogenetic location: 6q25.3 Genomic coordinates (GRCh38): 6:159,799,455-159,820,704 (from NCBI)

This gene has 7 transcripts (splice variants), 125 orthologues, 2 paralogues and is associated with 2 phenotypes. Restricted expression toward testis (RPKM 4.8).

Summary

Enables poly(A)-specific ribonuclease activity. Involved in nuclear-transcribed mRNA poly(A) tail shortening. Located in endoplasmic reticulum. Implicated in spermatogenic failure. [provided by Alliance of Genome Resources, Apr 2022]

PNLDC1 Products(2)

mRNA	Protein	Name
NM_001271862.2	NP_001258791.1	poly(A)-specific ribonuclease PNLDC1 isoform 1
NM_173516.3	NP_775787.1	poly(A)-specific ribonuclease PNLDC1 isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables poly(A)-specific ribonuclease activity	IDA IDA: Inferred from direct assay	27515512	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in nuclear-transcribed mRNA poly(A) tail shortening	IDA IDA: Inferred from direct assay	27515512	GOA
involved in piRNA processing	IMP IMP: Inferred from mutant phenotype	34347949	GOA
involved in spermatogenesis	IMP IMP: Inferred from mutant phenotype	34347949	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	27515512	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PNLDC1 Protein Structure

CAF1

0
100
200
300
400
520 a.a.

Protein Preferred Names

Protein Names

poly(A)-specific ribonuclease PNLDC1

PARN like, ribonuclease domain containing 1

Related Diseases

Diseases

Alias

Spermatogenic Failure 57

SPGF57

Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation

Oligospermia

Spermatogenic Failure

Azoospermia	Spgf
Spermatogenic Failure, Susceptibility To	Absent Sperm
Aspermatogenesis	Infertility Due To Azoospermia
Hypospermatogenesis	Azoospermatism

Warburg Micro Syndrome 1

Warburg Micro Syndrome	Micro Syndrome
Warbm	WARBM1
Warburg Sjo Fledelius Syndrome	Warburg-Sjo-Fledelius Syndrome
Micro Syndrome 1	Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism

Male Infertility

Infertility, Male	Infertility Male
Male Sterility	Absolute Infertility

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10779	PNLDC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PNLDC1	VGNC	VGNC:64260
Macaca mulatta	PNLDC1	VGNC	VGNC:76089
Mus musculus	PNLDC1	MGD	MGI:2685159
Rattus norvegicus	PNLDC1	RGD	RGD:1308678
Canis familiaris	PNLDC1	VGNC	VGNC:44744
Bos taurus	PNLDC1	VGNC	VGNC:33082

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