1. Gene
  2. PNLDC1 - PARN like ribonuclease domain containing exonuclease 1 Gene

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

PNLDC1 Protein Structure

CAF1

CAF1: CAF1 family ribonuclease (16 - 363)

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  • 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

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