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

    Gene ID: 80336, updated on 26-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
    • 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)

    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

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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