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PABPC1L poly(A) binding protein cytoplasmic 1 like [ Homo sapiens (human) ]

Gene ID: 80336, updated on 2-Nov-2024

Summary

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Official Symbol
PABPC1Lprovided by HGNC
Official Full Name
poly(A) binding protein cytoplasmic 1 likeprovided by HGNC
Primary source
HGNC:HGNC:15797
See related
Ensembl:ENSG00000101104 AllianceGenome:HGNC:15797
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EPAB; PABPC1L1; C20orf119; dJ1069P2.3
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 human, expression of a functional protein is regulated by alternative splicing. The protein-coding splice variant for this gene is abundantly expressed in human oocytes, while a noncoding splice variant subject to nonsense-mediated decay is the predominant splice variant expressed in somatic tissues. [provided by RefSeq, Aug 2019]
Expression
Ubiquitous expression in thyroid (RPKM 9.7), lymph node (RPKM 6.0) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See PABPC1L in Genome Data Viewer
Location:
20q13.12
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (44910060..44939316)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (46645923..46675185)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (43538701..43567957)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene piggyBac transposable element derived 4 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12948 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:43514076-43514692 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:43545042-43545542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:43545543-43546043 Neighboring gene translocase of outer mitochondrial membrane 34 Neighboring gene uncharacterized LOC124904912 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17943 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12951 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12952 Neighboring gene STK4 divergent transcript

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Pathogenic missense variation in PABPC1L/EPAB causes female infertility due to oocyte maturation arrest at the germinal vesicle stage. Okutman O, et al. J Assist Reprod Genet, 2024 Feb. PMID 38177974,
  2. Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility. Wang X, et al. Clin Genet, 2023 Dec. PMID 37723834
  3. Identification and characterization of human embryonic poly(A) binding protein (EPAB). Guzeloglu-Kayisli O, et al. Mol Hum Reprod, 2008 Oct. PMID 18716053
  4. Human embryonic poly(A)-binding protein (EPAB) alternative splicing is differentially regulated in human oocytes and embryos. Guzeloglu-Kayisli O, et al. Mol Hum Reprod, 2014 Jan. PMID 24002949
  5. Poly(A)-binding proteins are required for translational regulation in vertebrate oocytes and early embryos. Ozturk S, et al. Reprod Fertil Dev, 2017 Sep. PMID 28103468

See all (34) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PABPC1L Induces IDO1 to Promote Tryptophan Metabolism and Immune Suppression in Renal Cell Carcinoma.
    Title: PABPC1L Induces IDO1 to Promote Tryptophan Metabolism and Immune Suppression in Renal Cell Carcinoma.
  2. Pathogenic missense variation in PABPC1L/EPAB causes female infertility due to oocyte maturation arrest at the germinal vesicle stage.
    Title: Pathogenic missense variation in PABPC1L/EPAB causes female infertility due to oocyte maturation arrest at the germinal vesicle stage.
  3. Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility.
    Title: Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility.
  4. EPAB decreased expression in in infertile men with non-obstructive azoospermia
    Title: The poly(A)-binding protein genes, EPAB, PABPC1, and PABPC3 are differentially expressed in infertile men with non-obstructive azoospermia.
  5. Human EPAB mRNA is detected in ovaries, testes and several somatic tissues including pancreas, liver and thymus, and EPAB is the predominant poly(A) binding protein in immature (germinal vesicle) and mature (metaphase II) oocytes.
    Title: Identification and characterization of human embryonic poly(A) binding protein (EPAB).
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
integrase gag-pol Analysis of HIV-1 proviral integration sites in antiretroviral treatment patients indicates that PABPC1L gene favors HIV-1 integration for expansion and persistence of infected cells, suggesting HIV-1 IN interacts with PABPC1L PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ11840, FLJ30809, FLJ42053

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables mRNA 3'-UTR binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables poly(A) binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables poly(U) RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasmic stress granule IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular exosome HDA PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of ribonucleoprotein complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
polyadenylate-binding protein 1-like
Names
embryonic poly(A) binding protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001372179.1 → NP_001359108.1  polyadenylate-binding protein 1-like

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) encodes the protein. This variant is abundantly expressed in human oocytes.
    Source sequence(s)
    AL008725, AL109839
    Consensus CDS
    CCDS42878.2
    UniProtKB/Swiss-Prot
    Q4VXU2, Q4VY17
    UniProtKB/TrEMBL
    A0A6Q8JFT6
    Related
    ENSP00000217073.3, ENST00000217073.7
    Conserved Domains (1) summary
    TIGR01628
    Location:11 → 606
    PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family

RNA

  1. NR_134983.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses two alternate internal splice sites and lacks an internal exon compared to variant 7. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). This noncoding splice variant is the predominant transcript expressed in somatic tissues.
    Source sequence(s)
    BM689138, BQ446831, DC418955, DR001377, EU190483
    Related
    ENST00000537323.5

  2. NR_134987.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) retains an alternate intron and includes an alternate exon compared to variant 7. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL008725, AL109839

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    44910060..44939316
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047440518.1 → XP_047296474.1  polyadenylate-binding protein 1-like isoform X1

  2. XM_047440519.1 → XP_047296475.1  polyadenylate-binding protein 1-like isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    46645923..46675185
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054324061.1 → XP_054180036.1  polyadenylate-binding protein 1-like isoform X1

  2. XM_054324062.1 → XP_054180037.1  polyadenylate-binding protein 1-like isoform X2

RNA

  1. XR_008485302.1 RNA Sequence

  2. XR_008485301.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001124756.2: Suppressed sequence

    Description
    NM_001124756.2: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.

  2. NR_134984.1: Suppressed sequence

    Description
    NR_134984.1: This RefSeq was removed because the transcript was partial.

  3. NR_134985.1: Suppressed sequence

    Description
    NR_134985.1: This RefSeq was removed because the transcript was partial.

  4. NR_134986.1: Suppressed sequence

    Description
    NR_134986.1: This RefSeq was removed because the transcript was partial.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q4VXU2.1 GenPept UniProtKB/Swiss-Prot:Q4VXU2

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