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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
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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)

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.

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