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    PABPC4L poly(A) binding protein cytoplasmic 4 like [ Homo sapiens (human) ]

    Gene ID: 132430, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PABPC4Lprovided by HGNC
    Official Full Name
    poly(A) binding protein cytoplasmic 4 likeprovided by HGNC
    Primary source
    HGNC:HGNC:31955
    See related
    Ensembl:ENSG00000254535 AllianceGenome:HGNC:31955
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable mRNA 3'-UTR binding activity; poly(A) binding activity; and poly(U) RNA binding activity. Predicted to be part of ribonucleoprotein complex. Predicted to be active in cytoplasmic stress granule; cytosol; and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See PABPC4L in Genome Data Viewer
    Location:
    4q28.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (133948459..134201901, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (137270963..137524347, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (135117488..135122944, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15691 Neighboring gene uncharacterized LOC124900863 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:134184427-134185124 Neighboring gene protocadherin 10 Neighboring gene Sharpr-MPRA regulatory region 13606 Neighboring gene MPRA-validated peak5117 silencer Neighboring gene MPRA-validated peak5118 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:134882009-134882508 Neighboring gene Sharpr-MPRA regulatory region 7344 Neighboring gene NANOG hESC enhancer GRCh37_chr4:134933235-134933765 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:134935699-134936199 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:134935198-134935698 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:134981541-134981750 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:134991841-134992529 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:135129339-135129839 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:135286515-135287714 Neighboring gene pescadillo ribosomal biogenesis factor 1 pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 2462 Neighboring gene Sharpr-MPRA regulatory region 8780

    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. Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism. Aslam M, et al. Sci Rep, 2019 Sep 19. PMID 31537871, Free PMC Article
    2. Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. Randall JC, et al. PLoS Genet, 2013 Jun. PMID 23754948, Free PMC Article
    3. RNF43 G659fs is an oncogenic colorectal cancer mutation and sensitizes tumor cells to PI3K/mTOR inhibition. Fang L, et al. Nat Commun, 2022 Jun 8. PMID 35676246, Free PMC Article
    4. Elucidation of the BMI1 interactome identifies novel regulatory roles in glioblastoma. Freire-Benéitez V, et al. NAR Cancer, 2021 Mar. PMID 34316702, Free PMC Article
    5. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism.
      Title: Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism.
    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

    EBI GWAS Catalog

    Description
    Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp686J06116

    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
    		  
    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 4-like
    Names
    PABP-4-like

    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_001114734.2 → NP_001108206.3  polyadenylate-binding protein 4-like

      Status: VALIDATED

      Source sequence(s)
      AC015631, BX648831, DR005318
      Consensus CDS
      CCDS47135.1
      UniProtKB/Swiss-Prot
      P0CB38
      Related
      ENSP00000463233.1, ENST00000421491.4
      Conserved Domains (1) summary
      cl25887
      Location:10 → 369
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

    2. NM_001363585.1 → NP_001350514.1  polyadenylate-binding protein 4-like

      Status: VALIDATED

      Source sequence(s)
      AC015631
      Consensus CDS
      CCDS47135.1
      UniProtKB/Swiss-Prot
      P0CB38
      Conserved Domains (1) summary
      cl25887
      Location:10 → 369
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      133948459..134201901 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449600.1 → XP_047305556.1  polyadenylate-binding protein 4-like isoform X1

    RNA

    1. XR_001741133.2 RNA Sequence

    2. XR_007096357.1 RNA Sequence

    3. XR_001741139.2 RNA Sequence

    4. XR_001741135.2 RNA Sequence

    5. XR_001741134.2 RNA Sequence

    6. XR_007096356.1 RNA Sequence

    7. XR_001741136.2 RNA Sequence

    8. XR_001741138.2 RNA Sequence

    9. XR_001741137.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      137270963..137524347 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008486907.1 RNA Sequence

    2. XR_008486901.1 RNA Sequence

    3. XR_008486902.1 RNA Sequence

    4. XR_008486905.1 RNA Sequence

    5. XR_008486906.1 RNA Sequence

    6. XR_008486908.1 RNA Sequence

    7. XR_008486904.1 RNA Sequence

    8. XR_008486903.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0CB38.1 GenPept UniProtKB/Swiss-Prot:P0CB38

    Gene LinkOut

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

    Chemical Information
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