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

Gene ID: 390748, updated on 3-Apr-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 RNA binding activity. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in adrenal (RPKM 3.9), testis (RPKM 3.0) and 25 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (88863333..88870135, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (94933691..94940493, complement)
105.20220307 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
  • 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 (8) 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_2023_10

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

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