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    PABPN1L PABPN1 like, cytoplasmic [ Homo sapiens (human) ]

    Gene ID: 390748, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PABPN1Lprovided by HGNC
    Official Full Name
    PABPN1 like, cytoplasmicprovided by HGNC
    Primary source
    HGNC:HGNC:37237
    See related
    Ensembl:ENSG00000205022 AllianceGenome:HGNC:37237
    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
    Also known as
    ePABP2; PABPNL1
    Summary
    Predicted to enable poly(A) binding activity. Predicted to be involved in nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay. Predicted to act upstream of or within maternal-to-zygotic transition of gene expression; negative regulation of SCF-dependent proteasomal ubiquitin-dependent catabolic process; and negative regulation of protein ubiquitination. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in adrenal (RPKM 3.9), testis (RPKM 3.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PABPN1L in Genome Data Viewer
    Location:
    16q24.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (88863333..88870135, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (94933691..94940493, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (88929741..88933068, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88876670-88877205 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7879 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88878711-88879395 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88879396-88880079 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88882597-88883098 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88883099-88883598 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:88884193-88885392 Neighboring gene adenine phosphoribosyltransferase Neighboring gene galactosamine (N-acetyl)-6-sulfatase Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46374 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7882 Neighboring gene uncharacterized LOC107983950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7883 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88930168-88930918 Neighboring gene trafficking protein particle complex subunit 2L Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11373 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:88940900-88941052 Neighboring gene uncharacterized LOC101927793 Neighboring gene CBFA2/RUNX1 partner transcriptional co-repressor 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88958623-88959123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11374 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88968733-88969276 Neighboring gene uncharacterized LOC102724632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7884

    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. Heritability of human visual contour integration-an integrated genomic study. Zhu Z, et al. Eur J Hum Genet, 2019 Dec. PMID 31363184, Free PMC Article
    2. Isolation of the human ePAB and ePABP2 cDNAs and analysis of the expression patterns. Sakugawa N, et al. J Assist Reprod Genet, 2008 May. PMID 18483763, Free PMC Article
    3. Identification of a novel Xenopus laevis poly (A) binding protein. Cosson B, et al. Biol Cell, 2004 Sep. PMID 15380618
    4. Xenopus embryonic poly(A) binding protein 2 (ePABP2) defines a new family of cytoplasmic poly(A) binding proteins expressed during the early stages of vertebrate development. Good PJ, et al. Genesis, 2004 Apr. PMID 15083517
    5. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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 poly(A) binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    embryonic polyadenylate-binding protein 2
    Names
    ePABP-2
    embryonic poly(A)-binding protein 2
    embryonic poly(A)-binding protein type II
    poly(A) binding protein nuclear 1 like, cytoplasmic
    poly(A)-binding protein nuclear-like 1

    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_001080487.4 → NP_001073956.2  embryonic polyadenylate-binding protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001073956.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC092384
      Consensus CDS
      CCDS45547.2
      UniProtKB/Swiss-Prot
      A1L3B3, A2VDI2, A6NDY0
      UniProtKB/TrEMBL
      B6RF28
      Related
      ENSP00000408598.2, ENST00000419291.7
      Conserved Domains (2) summary
      COG0724
      Location:138 → 231
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12551
      Location:148 → 224
      RRM_II_PABPN1L; RNA recognition motif in vertebrate type II embryonic polyadenylate-binding protein 2 (ePABP-2)

    2. NM_001294328.4 → NP_001281257.1  embryonic polyadenylate-binding protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001281257.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon, which results in a frameshift, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC092384
      Consensus CDS
      CCDS73925.1
      UniProtKB/Swiss-Prot
      A6NDY0
      Related
      ENSP00000405259.2, ENST00000411789.6
      Conserved Domains (2) summary
      COG0724
      Location:138 → 191
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cl17169
      Location:148 → 189
      RRM_SF; RNA recognition motif (RRM) superfamily

    3. NM_001385709.2 → NP_001372638.1  embryonic polyadenylate-binding protein 2 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (3).
      Source sequence(s)
      AC092384
      UniProtKB/TrEMBL
      A0A1C7CYY8
      Related
      ENSP00000449247.1, ENST00000547152.1

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      88863333..88870135 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434103.1 → XP_047290059.1  embryonic polyadenylate-binding protein 2 isoform X2

    2. XM_047434102.1 → XP_047290058.1  embryonic polyadenylate-binding protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A1L3B3, A2VDI2, A6NDY0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      94933691..94940493 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380318.1 → XP_054236293.1  embryonic polyadenylate-binding protein 2 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NDY0.1 GenPept UniProtKB/Swiss-Prot:A6NDY0

    Gene LinkOut

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

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