HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PABPN1L
PABPN1 like, cytoplasmic
Chromosome 16 · 16q24.3
NCBI Gene: 390748Ensembl: ENSG00000205022.9HGNC: HGNC:37237UniProt: A6NDY0
9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
poly(A) bindingnuclear-transcribed mRNA catabolic process, deadenylation-dependent decaycytoplasmnucleic acid bindingneurodegenerative diseaseFemale infertility due to fertilization defectRare genetic female infertilityoocyte maturation defect 5
✦AI Summary

PABPN1L (poly(A)-binding protein nuclear 1-like, cytoplasmic) is a cytoplasmic mRNA-binding protein that specifically recognizes and binds poly(A) tails 1. The protein plays a critical role during early embryonic development, particularly in maternal-to-zygotic transition (MZT). PABPN1L functions as a key maternal factor that recruits BTG4 to mRNA 3'-poly(A) tails, facilitating CCR4-NOT-mediated deadenylation and subsequent degradation of maternal mRNAs 2. This process is essential for the zygotic splicing activation (ZSA) that accompanies transcriptional activation in early embryos 3. PABPN1L forms distinctive "ring-like" cytoplasmic aggregates in metaphase II oocytes, structural organization associated with the deadenylation machinery 2. Loss or dysfunction of PABPN1L impairs maternal mRNA degradation, resulting in aberrant gene expression that causes zygotic cleavage failure and female infertility 2. Additionally, genetic variation in PABPN1L shows suggestive association with contour integration ability in visual perception 4. These findings establish PABPN1L as essential for reproductive biology and potentially relevant to sensory processing.

Sources cited
1
PABPN1L is a cytoplasmic poly(A)-binding protein that specifically binds poly(A) tails through its RRM domain
PMID: 15083517
2
PABPN1L recruits BTG4 to mRNA poly(A) tails for deadenylation-dependent maternal mRNA degradation and forms ring-like cytoplasmic aggregates in MII oocytes; PABPN1L loss causes female infertility
PMID: 34726234
3
PABPN1L is a key maternal factor required for zygotic splicing activation during maternal-to-zygotic transition
PMID: 38308190
4
PABPN1L shows suggestive genome-wide association with human visual contour integration ability
PMID: 31363184
5
BTG4 C-terminal mutations abolish interaction with PABPN1L, causing zygotic cleavage failure
PMID: 36471203
6
Human ePABP2 (PABPN1L ortholog) is located on chromosome 16q24.3 and is expressed throughout early oocyte and embryonic development stages
PMID: 18483763
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.27Weak
Female infertility due to fertilization defectOpen Targets
0.10Weak
Rare genetic female infertilityOpen Targets
0.09Suggestive
oocyte maturation defect 14Open Targets
0.09Suggestive
oocyte maturation defect 5Open Targets
0.09Suggestive
female infertility due to oocyte meiotic arrestOpen Targets
0.08Suggestive
female infertility due to zona pellucida defectOpen Targets
0.08Suggestive
oocyte maturation defect 11Open Targets
0.08Suggestive
oocyte maturation defect 3Open Targets
0.08Suggestive
oocyte maturation defect 6Open Targets
0.08Suggestive
oocyte maturation defect 7Open Targets
0.08Suggestive
oocyte/zygote/embryo maturation arrest 18Open Targets
0.08Suggestive
oocyte/zygote/embryo maturation arrest 19Open Targets
0.08Suggestive
Hydatidiform MoleOpen Targets
0.08Suggestive
oocyte maturation defect 13Open Targets
0.08Suggestive
oocyte/zygote/embryo maturation arrest 21Open Targets
0.08Suggestive
oocyte maturation defect 12Open Targets
0.08Suggestive
oocyte/zygote/embryo maturation arrest 17Open Targets
0.07Suggestive
oocyte/zygote/embryo maturation arrest 20Open Targets
0.07Suggestive
premature ovarian failure 19Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NT5C3BShared pathway100%BCL2L2-PABPN1Protein interaction99%PABPN1Protein interaction92%PAN2Shared pathway33%PAN3Shared pathway33%DCPSShared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
14%
Lung
13%
Brain
9%
Heart
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
PABPN1LNT5C3BBCL2L2-PABPN1PABPN1PAN2PAN3DCPS
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt A6NDY0
View on AlphaFold ↗
RankingsWhere PABPN1L stands among ~20K protein-coding genes
  • #17,407of 20,598
    Most Researched9
Genes detectedPABPN1L
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Zygotic Splicing Activation of the Transcriptome is a Crucial Aspect of Maternal-to-Zygotic Transition and Required for the Conversion from Totipotency to Pluripotency.
PMID: 38308190
Adv Sci (Weinh) · 2024
1.00
2
Heritability of human visual contour integration-an integrated genomic study.
PMID: 31363184
Eur J Hum Genet · 2019
0.83
3
Isolation of the human ePAB and ePABP2 cDNAs and analysis of the expression patterns.
PMID: 18483763
J Assist Reprod Genet · 2008
0.67
4
A novel homozygous C-terminal deletion in BTG4 causes zygotic cleavage failure and female infertility.
PMID: 36471203
J Assist Reprod Genet · 2023
0.50
5
PABPN1L assemble into "ring-like" aggregates in the cytoplasm of MII oocytes and is associated with female infertility†.
PMID: 34726234
Biol Reprod · 2022
0.33