PABPC1L (poly(A) binding protein cytoplasmic 1 like)

Gene

• Entrez ID: 80336
• Gene name: Poly(A) binding protein cytoplasmic 1 like
• Gene symbol: PABPC1L
• Synonyms (NCBI Gene): C20orf119, EPAB, OZEMA22, PABPC1L1, dJ1069P2.3
• Chromosome: 20
• Chromosome location: 20q13.12
• Summary: This gene belongs to the polyadenylate-binding protein type-1 family of proteins. Members of this family bind to the polyA tails of mRNAs to regulate mRNA stability and translation. The mouse ortholog of this gene is required for female fertility. In huma

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017953	hsa-miR-335-5p	Microarray	18185580
MIRT1209435	hsa-miR-103a	CLIP-seq
MIRT1209436	hsa-miR-107	CLIP-seq
MIRT1209437	hsa-miR-1193	CLIP-seq
MIRT1209438	hsa-miR-1262	CLIP-seq
MIRT1209439	hsa-miR-1287	CLIP-seq
MIRT1209440	hsa-miR-1298	CLIP-seq
MIRT1209441	hsa-miR-1301	CLIP-seq
MIRT1209442	hsa-miR-205	CLIP-seq
MIRT1209443	hsa-miR-23a	CLIP-seq
MIRT1209444	hsa-miR-23b	CLIP-seq
MIRT1209445	hsa-miR-23c	CLIP-seq
MIRT1209446	hsa-miR-330-3p	CLIP-seq
MIRT1209447	hsa-miR-3652	CLIP-seq
MIRT1209448	hsa-miR-3714	CLIP-seq
MIRT1209449	hsa-miR-374c	CLIP-seq
MIRT1209450	hsa-miR-3929	CLIP-seq
MIRT1209451	hsa-miR-4419b	CLIP-seq
MIRT1209452	hsa-miR-4430	CLIP-seq
MIRT1209453	hsa-miR-4478	CLIP-seq
MIRT1209454	hsa-miR-450b-5p	CLIP-seq
MIRT1209455	hsa-miR-4701-3p	CLIP-seq
MIRT1209456	hsa-miR-4731-3p	CLIP-seq
MIRT1209457	hsa-miR-4797-5p	CLIP-seq
MIRT1209458	hsa-miR-4801	CLIP-seq
MIRT1209459	hsa-miR-5047	CLIP-seq
MIRT1209460	hsa-miR-507	CLIP-seq
MIRT1209461	hsa-miR-548ag	CLIP-seq
MIRT1209462	hsa-miR-548ai	CLIP-seq
MIRT1209463	hsa-miR-548m	CLIP-seq
MIRT1209464	hsa-miR-548p	CLIP-seq
MIRT1209465	hsa-miR-557	CLIP-seq
MIRT1209466	hsa-miR-655	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001556	Process	Oocyte maturation	IMP	37052235
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003730	Function	MRNA 3'-UTR binding	IBA
GO:0005634	Component	Nucleus	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0008143	Function	Poly(A) binding	IBA
GO:0008143	Function	Poly(A) binding	IMP	37052235
GO:0008266	Function	Poly(U) RNA binding	IBA
GO:0010494	Component	Cytoplasmic stress granule	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0045727	Process	Positive regulation of translation	IMP	37052235
GO:0048477	Process	Oogenesis	IEA
GO:0060255	Process	Regulation of macromolecule metabolic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0080090	Process	Regulation of primary metabolic process	IEA
GO:1990904	Component	Ribonucleoprotein complex	IBA

Other IDs

• MIM: 621055
• HGNC: 15797
• e!Ensembl: ENSG00000101104

Protein

• UniProt ID: Q4VXU2
• Protein name: Polyadenylate-binding protein 1-like (Embryonic poly(A)-binding protein) (Poly(A) binding protein cytoplasmic 1 like)
• Protein function: Poly(A)-binding protein involved in oocyte maturation and early embryo development (PubMed:37723834, PubMed:37052235). It is required for cytosolic mRNA polyadenylation and translational activation of maternally stored mRNA in oocytes (By simila
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00076	RRM_1	13 → 83	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
  PF00076	RRM_1	101 → 168	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
  PF00076	RRM_1	193 → 262	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
  PF00076	RRM_1	296 → 364	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
  PF00658	PABP	533 → 600	Poly-adenylate binding protein, unique domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in ovary and testis (PubMed:18716053). Also expressed in pancreas, liver and thymus, and at lower levels in other somatic tissues including brain and lung (PubMed:18716053). {ECO:0000269|PubMed:18716053}.
• Sequence:

  MNASGSGYPLASLYVGDLHPDVTEAMLYEKFSPAGPILSIRVCRDVATRRSLGYAYINFQ
  QPADAERALDTMNFEMLKGQPIRIMWSQRDPGLRKSGVGNIFIKNLEDSIDNKALYDTFS
  TFGNILSCKVACDEHGSRGFGFVHFETHEAAQQAINTMNGMLLNDRKVFVGHFKSRRERE
  AELGARALEFTNIYVKNLPVDVDEQGLQDLFSQFGKMLSVKVMRDNSGHSRCFGFVNFEK
  HEEAQKAVVHMNGKEVSGRLLYAGRAQKRVERQNELKRRFEQMKQDRLRRYQGVNLYVKN
  LDDSIDDDKLRKEFSPYGVITSAKVMTEGGHSKGFGFVCFSSPEEATKAVTEMNGRIVGT
  KPLYVALAQRKEERKAILTNQYMQRLSTMRTLSNPLLGSFQQPSSYFLPAMPQPPAQAAY
  YGCGPVTPTQPAPRWTSQPPRPSCASMVRPPVVPRRPPAHISSVRQASTQVPRTVPHTQR
  VANIGTQTTGPSGVGCCTPGRPLLPCKCSSAAHSTYRVQEPAVHIPGQEPLTASMLAAAP
  LHEQKQMIGERLYPLIHDVHTQLAGKITGMLLEIDNSELLLMLESPESLHAKIDEAVAVL
  QAHQAMEQPKAYMH

• Sequence length: 614

Pathways

KEGG:

mRNA surveillance pathway
RNA degradation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Female infertility due to zona pellucida defect	Pathogenic	rs750947314	RCV001526881	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited oocyte maturation defect	Likely pathogenic	rs747094879	RCV001250890	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 22	—	ClinVar, HPO ClinVar, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Azoospermia	Azoospermia	Pubtator	26843391	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31607220	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33229623, 34420511	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29547645, 30867782		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29547645, 34169901	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Female	Female infertility	Pubtator	38177974	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32882325	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	26843391	Inhibit	★☆☆☆☆ Found in Text Mining only