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 i... See more...

Aliases for PABPC1L Gene

Aliases for PABPC1L Gene

  • Poly(A) Binding Protein Cytoplasmic 1 Like 2 3 5
  • Polyadenylate-Binding Protein 1-Like 3 4
  • DJ1069P2.3 2 3
  • C20orf119 3 4
  • PABPC1L1 2 3
  • EPAB 2 3
  • Poly(A) Binding Protein, Cytoplasmic 1-Like 2
  • Chromosome 20 Open Reading Frame 119 2
  • Embryonic Poly(A) Binding Protein 3
  • PABPC1L 5

External Ids for PABPC1L Gene

Previous HGNC Symbols for PABPC1L Gene

  • C20orf119

Previous GeneCards Identifiers for PABPC1L Gene

  • GC20P042973
  • GC20P043538
  • GC20P040280

Summaries for PABPC1L Gene

Entrez Gene Summary for PABPC1L Gene

  • 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]

GeneCards Summary for PABPC1L Gene

PABPC1L (Poly(A) Binding Protein Cytoplasmic 1 Like) is a Protein Coding gene. Diseases associated with PABPC1L include Acute Endophthalmitis. Among its related pathways are mRNA surveillance pathway and RNA transport. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is PABPC1.

Additional gene information for PABPC1L Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PABPC1L Gene

Genomics for PABPC1L Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PABPC1L Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PABPC1L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PABPC1L

Top Transcription factor binding sites by QIAGEN in the PABPC1L gene promoter:
  • AML1a
  • FOXI1
  • HFH-3
  • HTF
  • IRF-2
  • ITF-2
  • Pax-5
  • Pbx1a
  • POU3F2
  • Tal-1beta

Genomic Locations for PABPC1L Gene

Genomic Locations for PABPC1L Gene
chr20:44,910,060-44,959,035
(GRCh38/hg38)
Size:
48,976 bases
Orientation:
Plus strand
chr20:43,538,703-43,587,676
(GRCh37/hg19)
Size:
48,974 bases
Orientation:
Plus strand

Genomic View for PABPC1L Gene

Genes around PABPC1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PABPC1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PABPC1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PABPC1L Gene

Proteins for PABPC1L Gene

  • Protein details for PABPC1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4VXU2-PAP1L_HUMAN
    Recommended name:
    Polyadenylate-binding protein 1-like
    Protein Accession:
    Q4VXU2
    Secondary Accessions:
    • Q4VY17

    Protein attributes for PABPC1L Gene

    Size:
    614 amino acids
    Molecular mass:
    68392 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PABPC1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PABPC1L Gene

Post-translational modifications for PABPC1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PABPC1L Gene

Domains & Families for PABPC1L Gene

Gene Families for PABPC1L Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PABPC1L Gene

InterPro:
Blocks:
  • Polyadenylate-binding protein/HECT-associated
ProtoNet:

Suggested Antigen Peptide Sequences for PABPC1L Gene

GenScript: Design optimal peptide antigens:
  • Polyadenylate-binding protein 1-like (PAP1L_HUMAN)
  • Chromosome 20 open reading frame 119 (Q4VXT7_HUMAN)
  • Chromosome 20 open reading frame 119 (Q4VXT8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q4VXU2

UniProtKB/Swiss-Prot:

PAP1L_HUMAN :
  • Belongs to the polyadenylate-binding protein type-1 family.
Family:
  • Belongs to the polyadenylate-binding protein type-1 family.
genes like me logo Genes that share domains with PABPC1L: view

Function for PABPC1L Gene

Phenotypes From GWAS Catalog for PABPC1L Gene

Gene Ontology (GO) - Molecular Function for PABPC1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,IBA 21873635
GO:0003730 mRNA 3'-UTR binding IBA 21873635
GO:0008143 poly(A) binding IBA 21873635
GO:0008266 poly(U) RNA binding IBA 21873635
genes like me logo Genes that share ontologies with PABPC1L: view
genes like me logo Genes that share phenotypes with PABPC1L: view

Animal Models for PABPC1L Gene

MGI Knock Outs for PABPC1L:

Animal Model Products

CRISPR Products

miRNA for PABPC1L Gene

miRTarBase miRNAs that target PABPC1L

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PABPC1L

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PABPC1L Gene

Localization for PABPC1L Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PABPC1L gene
Compartment Confidence
extracellular 4
nucleus 4
cytosol 4
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PABPC1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol IBA 21873635
GO:0010494 cytoplasmic stress granule IBA 21873635
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with PABPC1L: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PABPC1L Gene

Pathways & Interactions for PABPC1L Gene

genes like me logo Genes that share pathways with PABPC1L: view

Pathways by source for PABPC1L Gene

3 KEGG pathways for PABPC1L Gene

Gene Ontology (GO) - Biological Process for PABPC1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001556 oocyte maturation IEA --
GO:0006338 chromatin remodeling IEA --
GO:0006378 mRNA polyadenylation IEA --
GO:0048096 chromatin-mediated maintenance of transcription IEA --
GO:0051647 nucleus localization IEA --
genes like me logo Genes that share ontologies with PABPC1L: view

No data available for SIGNOR curated interactions for PABPC1L Gene

Drugs & Compounds for PABPC1L Gene

No Compound Related Data Available

Transcripts for PABPC1L Gene

mRNA/cDNA for PABPC1L Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PABPC1L

Alternative Splicing Database (ASD) splice patterns (SP) for PABPC1L Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10
SP1: - - -
SP2: - -
SP3: - -
SP4: - -
SP5:
SP6: -

Relevant External Links for PABPC1L Gene

GeneLoc Exon Structure for
PABPC1L

Expression for PABPC1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PABPC1L Gene

mRNA differential expression in normal tissues according to GTEx for PABPC1L Gene

This gene is overexpressed in Liver (x4.0).

Protein differential expression in normal tissues from HIPED for PABPC1L Gene

This gene is overexpressed in Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PABPC1L Gene



Protein tissue co-expression partners for PABPC1L Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PABPC1L

SOURCE GeneReport for Unigene cluster for PABPC1L Gene:

Hs.641481

Evidence on tissue expression from TISSUES for PABPC1L Gene

  • Nervous system(2.4)
  • Intestine(2)
genes like me logo Genes that share expression patterns with PABPC1L: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PABPC1L Gene

Orthologs for PABPC1L Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PABPC1L Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PABPC1L 30 31
  • 99.57 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PABPC1L 30 31
  • 88.45 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PABPC1L 30 31
  • 88.14 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pabpc1l 30 17 31
  • 81.57 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pabpc1l 30
  • 81.45 (n)
Oppossum
(Monodelphis domestica)
Mammalia PABPC1L 31
  • 81 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PABPC1L 31
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PABPC1L 30 31
  • 75.8 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PABPC1L 31
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pabpc1l 30
  • 67.05 (n)
Zebrafish
(Danio rerio)
Actinopterygii pabpc1l 30 31
  • 67.89 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGR122C 30
  • 60.48 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C17600g 30
  • 56.62 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PAB1 30
  • 55.15 (n)
PRP24 33 33
Thale Cress
(Arabidopsis thaliana)
eudicotyledons PAB4 30
  • 51.31 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU04799 30
  • 57.34 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pabp 30
  • 54.52 (n)
Species where no ortholog for PABPC1L was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PABPC1L Gene

ENSEMBL:
Gene Tree for PABPC1L (if available)
TreeFam:
Gene Tree for PABPC1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PABPC1L: view image

Paralogs for PABPC1L Gene

(12) SIMAP similar genes for PABPC1L Gene using alignment to 8 proteins:

  • PAP1L_HUMAN
  • F2Z2Z0_HUMAN
  • H0Y386_HUMAN
  • Q4VXT4_HUMAN
  • Q4VXT5_HUMAN
  • Q4VXT6_HUMAN
  • Q4VXT8_HUMAN
  • Q4VY17_HUMAN
genes like me logo Genes that share paralogs with PABPC1L: view

Variants for PABPC1L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PABPC1L Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs2075960 - p.Ser212Ala
rs6513956 - p.Ser492Gly

Additional dbSNP identifiers (rs#s) for PABPC1L Gene

Structural Variations from Database of Genomic Variants (DGV) for PABPC1L Gene

Variant ID Type Subtype PubMed ID
nsv1056102 CNV loss 25217958
nsv1058850 CNV gain 25217958
nsv1062628 CNV gain 25217958
nsv518547 CNV gain 19592680
nsv586077 CNV gain 21841781
nsv954044 CNV duplication 24416366

Variation tolerance for PABPC1L Gene

Residual Variation Intolerance Score: 73.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.86; 83.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PABPC1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PABPC1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PABPC1L Gene

Disorders for PABPC1L Gene

MalaCards: The human disease database

(1) MalaCards diseases for PABPC1L Gene - From: DISEASES

Disorder Aliases PubMed IDs
acute endophthalmitis
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with PABPC1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PABPC1L Gene

Publications for PABPC1L Gene

  1. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4
  2. A high-resolution 6.0-megabase transcript map of the type 2 diabetes susceptibility region on human chromosome 20. (PMID: 11549316) Fossey SC … Bowden DW (Genomics 2001) 2 3
  3. The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation. (PMID: 29845934) Faust TB … Frankel AD (eLife 2018) 3
  4. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for PABPC1L Gene

Sources for PABPC1L Gene