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Aliases for PABPC1L Gene

Aliases for PABPC1L Gene

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

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

GeneCards Summary for PABPC1L Gene

PABPC1L (Poly(A) Binding Protein Cytoplasmic 1 Like) is a Protein Coding gene. Diseases associated with PABPC1L include Rigid Spine Muscular Dystrophy 1. Among its related pathways are RNA transport and Deadenylation-dependent mRNA decay. 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 Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PABPC1L Gene

Genomics for PABPC1L Gene

GeneHancer (GH) Regulatory Elements for PABPC1L Gene

Promoters and enhancers for PABPC1L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I044909 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 561.4 +0.7 687 2.9 HDGF CLOCK FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 PABPC1L YWHAB ENSG00000271984 ZSWIM1 SPATA25 TOMM34 STK4-AS1 STK4 DBNDD2 PIR52220
GH20I044965 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.8 +58.9 58868 7.5 CLOCK MLX DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC SSRP1 STK4 PCIF1 SYS1 ENSG00000271984 PABPC1L DNTTIP1 OSER1 WFDC5 TOMM34 SERINC3
GH20I044867 Enhancer 1 Ensembl ENCODE 16.7 -42.4 -42443 0.4 ELF3 ZNF2 RAD21 ZNF335 ZNF121 ARID2 ZNF366 ZNF143 ZNF391 SMARCA5 PABPC1L YWHAB KCNK15 KCNK15-AS1 RIMS4 ENSG00000132832 OSER1 GC20M044881 GC20M044880 PGBD4P2
GH20I045035 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.3 +126.4 126435 1.8 ATF1 PKNOX1 FEZF1 TCF12 ZNF766 ATF7 FOS ZNF518A ZNF592 ATF4 WFDC5 PABPC1L YWHAB ENSG00000252021 PIR48188 STK4
GH20I044958 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 5.8 +50.1 50051 2.9 HDGF FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B TOMM34 PABPC1L PIR52220
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PABPC1L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PABPC1L gene promoter:

Genomic Locations for PABPC1L Gene

Genomic Locations for PABPC1L Gene
chr20:44,910,058-44,959,035
(GRCh38/hg38)
Size:
48,978 bases
Orientation:
Plus strand
chr20:43,538,703-43,587,676
(GRCh37/hg19)

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

No Post-translational modifications

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

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 --
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

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 5
nucleus 4
cytosol 2

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:0070062 extracellular exosome HDA,IDA 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

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(17) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PABPC1L Gene

Poly(A) binding protein, cytoplasmic 1-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
PABPC1L

Expression for PABPC1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for PABPC1L Gene



Protein tissue co-expression partners for PABPC1L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PABPC1L Gene:

PABPC1L

SOURCE GeneReport for Unigene cluster for PABPC1L Gene:

Hs.641481
genes like me logo Genes that share expression patterns with PABPC1L: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES 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 33 34
  • 99.57 (n)
cow
(Bos Taurus)
Mammalia PABPC1L 33 34
  • 88.45 (n)
dog
(Canis familiaris)
Mammalia PABPC1L 33 34
  • 88.14 (n)
mouse
(Mus musculus)
Mammalia Pabpc1l 33 16 34
  • 81.57 (n)
rat
(Rattus norvegicus)
Mammalia Pabpc1l 33
  • 81.45 (n)
oppossum
(Monodelphis domestica)
Mammalia PABPC1L 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PABPC1L 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves PABPC1L 33 34
  • 75.8 (n)
lizard
(Anolis carolinensis)
Reptilia PABPC1L 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pabpc1l 33
  • 67.05 (n)
zebrafish
(Danio rerio)
Actinopterygii pabpc1l 33 34
  • 67.89 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR122C 33
  • 60.48 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C17600g 33
  • 56.62 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PAB1 33
  • 55.15 (n)
PRP24 36
thale cress
(Arabidopsis thaliana)
eudicotyledons PAB4 33
  • 51.31 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04799 33
  • 57.34 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pabp 33
  • 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 squirt (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)

Paralogs for PABPC1L Gene

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

Variants for PABPC1L Gene

Sequence variations from dbSNP and Humsavar for PABPC1L Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000049628 -- 44,959,393(+) A/G downstream_transcript_variant
rs1000083379 -- 44,928,237(+) A/T genic_upstream_transcript_variant, intron_variant
rs1000089307 -- 44,916,116(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000114583 -- 44,927,936(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000160191 -- 44,914,507(+) ATG/ATGATG genic_upstream_transcript_variant, intron_variant

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
rigid spine muscular dystrophy 1
  • rss
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PABPC1L

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 58
  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 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. The poly(A)-binding protein genes, EPAB, PABPC1, and PABPC3 are differentially expressed in infertile men with non-obstructive azoospermia. (PMID: 26843391) Ozturk S … Demir N (Journal of assisted reproduction and genetics 2016) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for PABPC1L Gene

Sources for PABPC1L Gene

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