PNLDC1
Poly(A)-specific ribonuclease PNLDC1
Also known as: dJ195P10.2, FLJ40240, PNDC1_HUMAN, Trimmer
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8NA58
- Gene
- PNLDC1
- Ensembl
- ENSG00000146453
- Chromosome
- 6
- Canonical length
- 520 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted membrane proteins
OverviewNCBI Gene
Enables poly(A)-specific ribonuclease activity. Involved in nuclear-transcribed mRNA poly(A) tail shortening; piRNA processing; and spermatogenesis. Located in endoplasmic reticulum. Implicated in spermatogenic failure 57. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
520 residues, UniProt reviewed canonical sequence.
>Q8NA58|PNLDC1
1 MFCTRGLLFF AFLAGLDIEF TGLRSNLSGP QQISLFDLPS EWYLKTRQSV QQFTVCQIGL
61 SVFSAIEGEA NKYIAHSCNF YLFPTTFGIL DSEFSFQASS VQFLNQYGFN YNKFLKNGIP
121 YMNEEQEKKI RHDILTGNWR VRSSPDKDQI KVVIDEVTRW LELAKEGDWM TLPGITGFQA
181 FEVQLVLRQA LPNIWTVLKD EGVVVKKVSK QHRWYLQNTS CDRESCWKEN ILLSARGFSV
241 FFQMLVKAQK PLVGHNMMMD LLHLHEKFFR PLPESYDQFK QNIHSLFPVL IDTKSVTKDI
301 WKEMNFPRVS NLSEVYEVLN SDLNPTKNSG PEIVHASRCE KYVETKCPHE AAYDAFLCGS
361 VLLKVAHLLL QKIYHIDPVP ESSFPQYLDV LAPYVNQVNL IRAGVPKINF SGPDYPSIRP
421 PILILSVKRW PGVSEQQVYH KFQNLCKFDV RRLTRSQFLL LTNKFKDARN ILKEYRDHPT
481 LCISLYRYWR HSPNVNCLLQ VCGIVTAWAL LAFILGRSGTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PNLDC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.27
- Highest tissue expression
- 7.9 nTPM
Expression across tissuesHPA
Tissue
- testis: 7.9 nTPM
- basal ganglia: 3.6 nTPM
- cerebral cortex: 1.8 nTPM
- fallopian tube: 1.8 nTPM
- pancreas: 1.6 nTPM
- ovary: 1.2 nTPM
Single-cell type
- oocytes: 281 nCPM
- late primary spermatocytes: 25 nCPM
- undifferentiated spermatogonia: 22 nCPM
- late spermatids: 22 nCPM
- early spermatids: 22 nCPM
- pancreatic duct cells: 21 nCPM
Immune cell
- plasmacytoid DC: 0.3 nTPM
- intermediate monocyte: 0.2 nTPM
- myeloid DC: 0.1 nTPM
- naive CD4 T-cell: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
Brain region
- cerebral cortex: 17 nTPM
- basal ganglia: 4.7 nTPM
- pons: 2.9 nTPM
- white matter: 2.6 nTPM
- cerebellum: 2.1 nTPM
- thalamus: 1.8 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PNLDC1.
Disease | AllUniProt
Conditions PNLDC1 is implicated in, by any mechanism.
- Spermatogenic failure 57 (SPGF57) MIM:619528
Disease | GeneticClinVar
10 pathogenic / likely-pathogenic of 89 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Spermatogenic failure 57
- Male infertility with azoospermia or oligozoospermia due to single gene mutation
- Non-obstructive azoospermia
- Oligospermia
- Male infertility
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.98
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.8
- DepMap mean gene effect
- 0.06
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- blastocyst formation
- nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
- nuclear-transcribed mRNA poly(A) tail shortening
- piRNA processing
- priRNA 3'-end processing
- siRNA 3'-end processing
- spermatogenesis
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PNLDC1 as an antibody target. Whether an autoantibody or antibody against PNLDC1 could matter depends on whether native PNLDC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PNLDC1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PNLDC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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