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5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PAPOLB
poly(A) polymerase beta
Chromosome 7 · 7p22.1
NCBI Gene: 56903Ensembl: ENSG00000218823.2HGNC: HGNC:15970UniProt: A4D1Z6
9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleuscytoplasmpoly(A) RNA polymerase activityendoplasmic reticulumHypocalcemiaazoospermiapartial chromosome Y deletionspermatogenic failure 57
✦AI Summary

PAPOLB (poly(A) polymerase beta) is a testis-specific cytoplasmic enzyme with poly(A) RNA polymerase activity that plays a critical role in male fertility. In mice, PAPOLB loss causes spermiogenesis arrest and male infertility 1. The gene is transcriptionally regulated by the BNC1 transcription factor, which directly binds to promoter elements of PAPOLB to induce its expression during spermatogenesis 2. PAPOLB functions independently of chr7 body-associated pathways, localizing to mRNA-free cellular fractions rather than translating polyribosomes 1, suggesting a distinct regulatory mechanism for spermiogenesis. Clinically, PAPOLB has emerged as a potential biomarker for non-obstructive azoospermia (NOA), with downregulation associated with impaired spermatogenesis in NOA mouse models 3. However, in human populations, PAPOLB coding region mutations show no significant association with azoospermia caused by Sertoli-cell-only syndrome in Japanese patients, despite mice showing critical fertility defects with PAPOLB loss 4. Additionally, PAPOLB was identified as a hub differentially-expressed gene in lower-grade glioma recurrence networks 5, suggesting potential roles beyond reproductive biology, though this finding requires further investigation.

Sources cited
1
PAPOLB loss causes spermiogenesis arrest and male infertility; PAPOLB functions independently of chromatoid body factors and localizes to mRNA-free fractions
PMID: 29109362
2
BNC1 transcription factor directly binds PAPOLB promoter elements to induce gene expression during spermatogenesis
PMID: 33211273
3
PAPOLB is a hub gene and biomarker for non-obstructive azoospermia; downregulated in NOA mouse models
PMID: 41846291
4
No significant association between PAPOLB coding region SNPs and azoospermia from Sertoli-cell-only syndrome in Japanese patients
PMID: 30744435
5
PAPOLB identified as hub differentially-expressed gene in lower-grade glioma recurrence network
PMID: 31104065
Disease Associationsⓘ20
HypocalcemiaOpen Targets
0.14Weak
azoospermiaOpen Targets
0.09Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
spermatogenic failure 57Open Targets
0.07Suggestive
spermatogenic failure 50Open Targets
0.07Suggestive
spermatogenic failure 25Open Targets
0.07Suggestive
spermatogenic failure 71Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.07Suggestive
spermatogenic failure 63Open Targets
0.07Suggestive
Testicular regression syndromeOpen Targets
0.06Suggestive
isochromosomy YpOpen Targets
0.06Suggestive
spermatogenic failure 59Open Targets
0.06Suggestive
spermatogenic failure 60Open Targets
0.06Suggestive
spermatogenic failure 73Open Targets
0.06Suggestive
spermatogenic failure 74Open Targets
0.06Suggestive
spermatogenic failure 61Open Targets
0.06Suggestive
spermatogenic failure 62Open Targets
0.06Suggestive
spermatogenic failure 88Open Targets
0.06Suggestive
spermatogenic failure 48Open Targets
0.06Suggestive
spermatogenic failure 72Open Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZCCHC7Protein interaction100%FIP1L1Protein interaction99%U2AF2Protein interaction97%CSTF1Protein interaction90%CSTF2Protein interaction90%PARNProtein interaction90%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
50%
Ovary
50%
Lung
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
PAPOLBZCCHC7FIP1L1U2AF2CSTF1CSTF2PARN
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NRJ5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.05LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.73 [0.51–1.05]
RankingsWhere PAPOLB stands among ~20K protein-coding genes
  • #17,408of 20,598
    Most Researched9
  • #10,586of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedPAPOLB
Sources retrieved5 papers
Response time—
📄 Sources
5
1
PAPOLB/TPAP regulates spermiogenesis independently of chromatoid body-associated factors.
PMID: 29109362
J Reprod Dev · 2018
1.00
2
BNC1 Promotes Spermatogenesis by Regulating Transcription of Ybx2 and Papolb via Direct Binding to Their Promotor Elements.
PMID: 33211273
Reprod Sci · 2021
0.80
3
Use of Genome-Scale Integrated Analysis to Identify Key Genes and Potential Molecular Mechanisms in Recurrence of Lower-Grade Brain Glioma.
PMID: 31104065
Med Sci Monit · 2019
0.60
4
Identification of biomarkers for non-obstructive azoospermia based on microRNA and bioinformatics screening.
PMID: 41846291
Yi Chuan · 2026
0.40
5
The poly(A) polymerase beta gene may not be associated with azoospermia caused by Sertoli-cell-only syndrome in Japanese patients by comparing patients and normal controls.
PMID: 30744435
J Obstet Gynaecol · 2019
0.20