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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PABPC1L
poly(A) binding protein cytoplasmic 1 like
Chromosome 20 Β· 20q13.12
NCBI Gene: 80336Ensembl: ENSG00000101104.14HGNC: HGNC:15797UniProt: Q4VXU2
35PubMed Papers
21Diseases
0Drugs
10Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
poly(A) bindingpositive regulation of translationextracellular exosomeoocyte maturationoocyte/zygote/embryo maturation arrest 22female infertility due to zona pellucida defectinherited oocyte maturation defectneoplasm
✦AI Summary

PABPC1L (poly(A) binding protein cytoplasmic 1 like) is a cytoplasmic RNA-binding protein with dual roles in reproduction and cancer biology. Primarily, PABPC1L functions in oocyte maturation and early embryonic development by binding poly(A) tails and regulating translational activation of maternal mRNAs 12. The protein localizes to the cytoplasm and is expressed across diverse tissues, with particular enrichment in reproductive tissues 3. Pathogenic bi-allelic variants in PABPC1L cause oocyte maturation arrest and female infertility through impaired mRNA binding and translational activation, affecting chr20 configuration and developmental gene expression 12. Beyond reproduction, PABPC1L is markedly upregulated in renal cell carcinoma and colorectal cancer, where it promotes tumor progression 45. In RCC, PABPC1L enhances JAK2-STAT1 signaling to upregulate IDO1, promoting immune suppression and T-cell dysfunction, with high PABPC1L expression correlating with ICB resistance 4. In colorectal cancer, PABPC1L depletion inhibits proliferation and migration via AKT pathway blockade 5. These findings establish PABPC1L as both a critical developmental regulator and a potential oncogenic target for therapeutic intervention.

Sources cited
1
PABPC1L bi-allelic variants cause oocyte maturation arrest and female infertility through reduced protein abundance and impaired mRNA translational activation
PMID: 37052235
2
Homozygous and compound heterozygous PABPC1L mutations cause oocyte maturation abnormalities, fertilization failure, and early embryonic arrest via impaired mRNA binding
PMID: 37723834
3
PABPC1L is upregulated in RCC, promotes IDO1 expression through JAK2-STAT1 signaling, induces immune suppression and T-cell dysfunction, and predicts ICB resistance
PMID: 38382068
4
PABPC1L depletion inhibits colorectal cancer cell proliferation and migration by blocking the PI3K-AKT pathway
PMID: 30867782
5
PABPC1L is identified as a tissue-specific translation machinery component with specialized expression patterns
PMID: 37176068
Disease Associationsβ“˜21
oocyte/zygote/embryo maturation arrest 22Open Targets
0.51Moderate
female infertility due to zona pellucida defectOpen Targets
0.42Moderate
inherited oocyte maturation defectOpen Targets
0.26Weak
neoplasmOpen Targets
0.09Suggestive
Female infertility due to fertilization defectOpen Targets
0.09Suggestive
Rare genetic female infertilityOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
renal cell carcinomaOpen Targets
0.07Suggestive
oocyte maturation defect 11Open Targets
0.07Suggestive
oocyte maturation defect 14Open Targets
0.07Suggestive
oocyte maturation defect 3Open Targets
0.07Suggestive
oocyte maturation defect 5Open Targets
0.07Suggestive
oocyte maturation defect 6Open Targets
0.07Suggestive
oocyte maturation defect 7Open Targets
0.07Suggestive
oocyte/zygote/embryo maturation arrest 18Open Targets
0.07Suggestive
oocyte/zygote/embryo maturation arrest 19Open Targets
0.07Suggestive
Hydatidiform MoleOpen Targets
0.07Suggestive
female infertility due to oocyte meiotic arrestOpen Targets
0.07Suggestive
oocyte maturation defect 13Open Targets
0.07Suggestive
oocyte/zygote/embryo maturation arrest 21Open Targets
0.07Suggestive
Oocyte/zygote/embryo maturation arrest 22UniProt
Pathogenic Variants10
NM_001372179.1(PABPC1L):c.1201C>T (p.Gln401Ter)Pathogenic
Oocyte/zygote/embryo maturation arrest 22
β˜†β˜†β˜†β˜†2025β†’ Residue 401
NM_001372179.1(PABPC1L):c.536G>A (p.Arg179Gln)Pathogenic
Oocyte/zygote/embryo maturation arrest 22
β˜†β˜†β˜†β˜†2025β†’ Residue 179
NM_001372179.1(PABPC1L):c.793C>T (p.Arg265Trp)Pathogenic
Oocyte/zygote/embryo maturation arrest 22
β˜†β˜†β˜†β˜†2025β†’ Residue 265
NM_001372179.1(PABPC1L):c.290G>A (p.Gly97Asp)Pathogenic
Oocyte/zygote/embryo maturation arrest 22
β˜†β˜†β˜†β˜†2025β†’ Residue 97
NM_001372179.1(PABPC1L):c.526C>T (p.Arg176Ter)Pathogenic
Oocyte/zygote/embryo maturation arrest 22
β˜†β˜†β˜†β˜†2025β†’ Residue 176
NM_001372179.1(PABPC1L):c.958dup (p.Ile320fs)Pathogenic
Oocyte/zygote/embryo maturation arrest 22
β˜†β˜†β˜†β˜†2025β†’ Residue 320
NM_001372179.1(PABPC1L):c.410C>T (p.Ser137Phe)Pathogenic
Oocyte/zygote/embryo maturation arrest 22
β˜†β˜†β˜†β˜†2025β†’ Residue 137
NM_001372179.1(PABPC1L):c.1121G>A (p.Arg374Gln)Pathogenic
Oocyte/zygote/embryo maturation arrest 22
β˜†β˜†β˜†β˜†2025β†’ Residue 374
NM_001372179.1(PABPC1L):c.1037C>T (p.Ala346Val)Pathogenic
Female infertility due to zona pellucida defect
β˜†β˜†β˜†β˜†2021β†’ Residue 346
NM_001372179.1(PABPC1L):c.77T>A (p.Met26Lys)Likely pathogenic
Inherited oocyte maturation defect
β˜†β˜†β˜†β˜†2020β†’ Residue 26
View on ClinVar β†—
Related Genes
PAIP1Protein interaction99%PABPN1Protein interaction89%EIF4G1Protein interaction80%EIF4A2Protein interaction79%EIF4A1Protein interaction79%EIF4EProtein interaction79%
Tissue Expression6 tissues
Liver
100%
Ovary
50%
Bone Marrow
35%
Lung
32%
Heart
5%
Brain
1%
Gene Interaction Network
Click a node to explore
PABPC1LPAIP1PABPN1EIF4G1EIF4A2EIF4A1EIF4E
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q4VXU2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.61LoF Tolerant
pLIβ“˜
0.03Tolerant
Observed/Expected LoF0.44 [0.33–0.61]
RankingsWhere PABPC1L stands among ~20K protein-coding genes
  • #11,030of 20,598
    Most Researched35
  • #2,884of 5,498
    Most Pathogenic Variants10
  • #4,213of 17,882
    Most Constrained (LOEUF)0.61 Β· top quartile
Genes detectedPABPC1L
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PABPC1L Induces IDO1 to Promote Tryptophan Metabolism and Immune Suppression in Renal Cell Carcinoma.
PMID: 38382068
Cancer Res Β· 2024
1.00
2
PABPC1L depletion inhibits proliferation and migration via blockage of AKT pathway in human colorectal cancer cells.
PMID: 30867782
Oncol Lett Β· 2019
0.90
3
Bi-allelic pathogenic variants in PABPC1L cause oocyte maturation arrest and female infertility.
PMID: 37052235
EMBO Mol Med Β· 2023
0.80
4
Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility.
PMID: 37723834
Clin Genet Β· 2023
0.70
5
Intronless Pabpc6 encodes a testis-specific, cytoplasmic poly(A)-binding protein but is dispensable for spermatogenesis in the mouse†.
PMID: 38281153
Biol Reprod Β· 2024
0.60