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Aliases for PABPC1 Gene

Aliases for PABPC1 Gene

  • Poly(A) Binding Protein Cytoplasmic 1 2 3 5
  • PABPC2 3 4
  • PABP1 3 4
  • PAB1 3 4
  • Poly(A)-Binding Protein, Cytoplasmic 2 2
  • Poly(A) Binding Protein, Cytoplasmic 2 3
  • Polyadenylate-Binding Protein 1 3
  • Poly(A)-Binding Protein 1 4
  • PABPL1 3
  • PABP-1 4
  • PABP 3

External Ids for PABPC1 Gene

Previous HGNC Symbols for PABPC1 Gene

  • PAB1
  • PABPC2

Previous GeneCards Identifiers for PABPC1 Gene

  • GC08M100720
  • GC08M101785
  • GC08M101383
  • GC08M101671
  • GC08M101784
  • GC08M101715
  • GC08M096913

Summaries for PABPC1 Gene

Entrez Gene Summary for PABPC1 Gene

  • This gene encodes a poly(A) binding protein. The protein shuttles between the nucleus and cytoplasm and binds to the 3' poly(A) tail of eukaryotic messenger RNAs via RNA-recognition motifs. The binding of this protein to poly(A) promotes ribosome recruitment and translation initiation; it is also required for poly(A) shortening which is the first step in mRNA decay. The gene is part of a small gene family including three protein-coding genes and several pseudogenes.[provided by RefSeq, Aug 2010]

GeneCards Summary for PABPC1 Gene

PABPC1 (Poly(A) Binding Protein Cytoplasmic 1) is a Protein Coding gene. Diseases associated with PABPC1 include Motor Neuron Disease. Among its related pathways are mRNA surveillance pathway and CDK-mediated phosphorylation and removal of Cdc6. GO annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is PABPC3.

UniProtKB/Swiss-Prot for PABPC1 Gene

  • Binds the poly(A) tail of mRNA, including that of its own transcript. May be involved in cytoplasmic regulatory processes of mRNA metabolism such as pre-mRNA splicing. Its function in translational initiation regulation can either be enhanced by PAIP1 or repressed by PAIP2. Can probably bind to cytoplasmic RNA sequences other than poly(A) in vivo. Involved in translationally coupled mRNA turnover. Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain. Involved in regulation of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons; for the recognition of premature termination codons (PTC) and initiation of NMD a competitive interaction between UPF1 and PABPC1 with the ribosome-bound release factors is proposed. By binding to long poly(A) tails, may protect them from uridylation by ZCCHC6/ZCCHC11 and hence contribute to mRNA stability (PubMed:25480299). Positively regulates the replication of dengue virus (DENV) (PubMed:26735137).

Gene Wiki entry for PABPC1 Gene

Additional gene information for PABPC1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PABPC1 Gene

Genomics for PABPC1 Gene

Regulatory Elements for PABPC1 Gene

Enhancers for PABPC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08H100947 1.4 ENCODE dbSUPER 36.9 -228.2 -228227 7 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZNF610 GLIS1 NBN YWHAZ PABPC1 RNF19A ENSG00000260368 GC08M100949 GC08M100948
GH08H101097 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13.8 -375.7 -375658 1 HDGF PKNOX1 ARNT SIN3A ZNF2 ATF7 FOS NCOA1 TSHZ1 ZNF518A PABPC1 RNF19A YWHAZ ZNF706 LOC105375674 FLJ42969
GH08H100835 1.1 Ensembl ENCODE 22.9 -112.7 -112706 0 ZFP64 RAD21 ZNF143 ZNF202 ZNF654 ZC3H11A GATAD2B REST ZNF518A ZNF781 RNF19A PABPC1 RNU4-83P RPS26P6
GH08H100487 2 FANTOM5 Ensembl ENCODE dbSUPER 12.1 +227.6 227626 16 HDGF PKNOX1 FOXA2 MLX ARID4B YBX1 YY1 SLC30A9 ZNF766 ZNF207 RNF19A SPAG1 PABPC1 ENSG00000202310 ANKRD46 ENSG00000253217 RGS22 ENSG00000254364 YWHAZ GC08M100535
GH08H100899 2 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -178.2 -178174 3 HDGF PKNOX1 ARNT SIN3A YBX1 ZNF2 ZNF766 CBX5 ZNF143 ZNF207 YWHAZ PABPC1 GAPDHP62 ZNF706 ENSG00000275041 ENSG00000260368
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PABPC1 on UCSC Golden Path with GeneCards custom track

Promoters for PABPC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000227973 1698 4201 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1

Genomic Location for PABPC1 Gene

Chromosome:
8
Start:
100,685,816 bp from pter
End:
100,722,998 bp from pter
Size:
37,183 bases
Orientation:
Minus strand

Genomic View for PABPC1 Gene

Genes around PABPC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PABPC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PABPC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PABPC1 Gene

Proteins for PABPC1 Gene

  • Protein details for PABPC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11940-PABP1_HUMAN
    Recommended name:
    Polyadenylate-binding protein 1
    Protein Accession:
    P11940
    Secondary Accessions:
    • Q15097
    • Q93004

    Protein attributes for PABPC1 Gene

    Size:
    636 amino acids
    Molecular mass:
    70671 Da
    Quaternary structure:
    • May interact with SETX (PubMed:21700224). May form homodimers. Component of a multisubunit autoregulatory ribonucleoprotein complex (ARC), at least composed of IGF2BP1, PABPC1 and CSDE1 (PubMed:16356927). Directly interacts with IGF2BP1. Part of a complex associated with the FOS mCRD domain and consisting of HNRPD, SYNCRIP, PAIP1 and CSDE1/UNR (PubMed:11051545). Interacts with the PABPC1-interacting motif-1 (PAM1) and -2 (PAM2) of PAIP1 and PAIP2 (PubMed:9548260, PubMed:11172725, PubMed:11438674, PubMed:11997512, PubMed:11287632, PubMed:20096703). Interacts with PAIP1 with a 1:1 stoichiometry and with PAIP2 with a 1:2 stoichiometry. The interaction with CSDE1 is direct and RNA-independent. Found in a mRNP complex with YBX2 (By similarity). Interacts with PAPD4/GLD2 (By similarity). Identified in the spliceosome C complex (PubMed:11991638). Identified in a mRNP complex, at least composed of DHX9, DDX3X, ELAVL1, HNRNPU, IGF2BP1, ILF3, PABPC1, PCBP2, PTBP2, STAU1, STAU2, SYNCRIP and YBX1. Identified in a IGF2BP1-dependent mRNP granule complex containing untranslated mRNAs. Interacts with NFX1 (PubMed:17267499). Interacts with PIWIL1 (By similarity). Interacts with AGO1, AGO2, GSPT1 and GSPT2 (PubMed:17932509, PubMed:18447585, Ref.47). Interacts with human cytomegalovirus/HHV-5 protein UL69 (PubMed:20133758). Interacts with LARP4B (Ref.49). Interacts (via the second and third RRM domains and the C-terminus) with PAIP2B (via central acidic portion and C-terminus) (PubMed:16804161, PubMed:11287632). Interacts with LARP1 (PubMed:20430826, PubMed:24532714, PubMed:25940091). Interacts with RYDEN (PubMed:26735137). Found in a complex with RYDEN and LARP1 (PubMed:26735137). Interacts with LARP4 (PubMed:21098120).
    Miscellaneous:
    • Many viruses shutoff host mRNA translational machinery by inhibiting cellular PABPC1 activity using different mechanisms. Picornaviruses, caliciviruses or lentiviruses encode proteases that cleave PABPC1 at several defined sites in the proline-rich linker region between RRMs and the C-terminal domain. Rotaviruses, gammherpesviruses and bunyamwera virus relocalize PABPC1 from the cytoplasm to the nucleus thus altering its function. Many of these viruses translate their mRNA in a PABPC1-independent manner and are unaffected by host PABPC1 inhibition.

    Three dimensional structures from OCA and Proteopedia for PABPC1 Gene

    Alternative splice isoforms for PABPC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PABPC1 Gene

Post-translational modifications for PABPC1 Gene

  • Methylated by CARM1. Arg-493 is dimethylated, probably to asymmetric dimethylarginine.
  • Phosphorylated by MAPKAPK2.
  • Ubiquitination at posLast=138138, Lys196, posLast=299299, Lys512, and posLast=625625
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PABPC1 (PABP 1)
  • Abcam antibodies for PABPC1

No data available for DME Specific Peptides for PABPC1 Gene

Domains & Families for PABPC1 Gene

Gene Families for PABPC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PABPC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P11940

UniProtKB/Swiss-Prot:

PABP1_HUMAN :
  • The RNA-binding domains RRM1 and RRM2 and the C-terminus (last 138 amino acids) regions interact with the PABPC1-interacting motif-1 (PAM1) and -2 (PAM2) of PAIP1, respectively.
  • Belongs to the polyadenylate-binding protein type-1 family.
Domain:
  • The RNA-binding domains RRM1 and RRM2 and the C-terminus (last 138 amino acids) regions interact with the PABPC1-interacting motif-1 (PAM1) and -2 (PAM2) of PAIP1, respectively.
  • The RNA-binding domains RRM2 and RRM3 and the C-terminus (last 138 amino acids) regions interact with the PABPC1-interacting motif-1 (PAM1) and -2 (PAM2) of PAIP2, respectively.
Family:
  • Belongs to the polyadenylate-binding protein type-1 family.
genes like me logo Genes that share domains with PABPC1: view

Function for PABPC1 Gene

Molecular function for PABPC1 Gene

GENATLAS Biochemistry:
poly (A) binding protein,cytoplasmic 1,ubiquitously expressed,major cytoplasmic RNA-binding protein,70kDA,with a splicing variant (38kDa),involved in the regulation of translation initiation,mRNA stability,regulation of poly(A) tail length,translationally controlled through a cis-regulatory element composed of a cytidine residue at the cap site followed by an interrupted stretch ol pyrimidines (5 - TOP motif)
UniProtKB/Swiss-Prot Function:
Binds the poly(A) tail of mRNA, including that of its own transcript. May be involved in cytoplasmic regulatory processes of mRNA metabolism such as pre-mRNA splicing. Its function in translational initiation regulation can either be enhanced by PAIP1 or repressed by PAIP2. Can probably bind to cytoplasmic RNA sequences other than poly(A) in vivo. Involved in translationally coupled mRNA turnover. Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain. Involved in regulation of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons; for the recognition of premature termination codons (PTC) and initiation of NMD a competitive interaction between UPF1 and PABPC1 with the ribosome-bound release factors is proposed. By binding to long poly(A) tails, may protect them from uridylation by ZCCHC6/ZCCHC11 and hence contribute to mRNA stability (PubMed:25480299). Positively regulates the replication of dengue virus (DENV) (PubMed:26735137).

Phenotypes From GWAS Catalog for PABPC1 Gene

Gene Ontology (GO) - Molecular Function for PABPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,IDA 22658674
GO:0003730 mRNA 3-UTR binding IDA 16126846
GO:0005515 protein binding IPI 9548260
GO:0008022 protein C-terminus binding IPI 15663938
genes like me logo Genes that share ontologies with PABPC1: view
genes like me logo Genes that share phenotypes with PABPC1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PABPC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PABPC1 Gene

Localization for PABPC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PABPC1 Gene

Cytoplasm. Nucleus. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Shuttles between the cytoplasm and the nucleus.

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 PABPC1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PABPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21940797
GO:0005681 spliceosomal complex IEA --
GO:0005737 cytoplasm IEA,TAS 9582337
GO:0005829 cytosol TAS,IDA --
GO:0005925 focal adhesion IDA 21423176
genes like me logo Genes that share ontologies with PABPC1: view

Pathways & Interactions for PABPC1 Gene

genes like me logo Genes that share pathways with PABPC1: view

Gene Ontology (GO) - Biological Process for PABPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0000289 nuclear-transcribed mRNA poly(A) tail shortening TAS --
GO:0000398 mRNA splicing, via spliceosome IC 11991638
GO:0006378 mRNA polyadenylation TAS 2885805
GO:0006397 mRNA processing IEA --
genes like me logo Genes that share ontologies with PABPC1: view

No data available for SIGNOR curated interactions for PABPC1 Gene

Drugs & Compounds for PABPC1 Gene

(2) Additional Compounds for PABPC1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PABPC1: view

Transcripts for PABPC1 Gene

Unigene Clusters for PABPC1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PABPC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PABPC1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ·
SP1: -
SP2: - -
SP3: - - -
SP4: - -
SP5: - - - - - -
SP6: -
SP7: -
SP8:
SP9: - -
SP10:
SP11: -
SP12: -

ExUns: 12c ^ 13a · 13b ^ 14
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for PABPC1 Gene

GeneLoc Exon Structure for
PABPC1
ECgene alternative splicing isoforms for
PABPC1

Expression for PABPC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PABPC1 Gene

Protein differential expression in normal tissues from HIPED for PABPC1 Gene

This gene is overexpressed in Lymph node (13.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PABPC1 Gene



Protein tissue co-expression partners for PABPC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PABPC1 Gene:

PABPC1

SOURCE GeneReport for Unigene cluster for PABPC1 Gene:

Hs.387804

mRNA Expression by UniProt/SwissProt for PABPC1 Gene:

P11940-PABP1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for PABPC1 Gene

  • Lung(4.9)
  • Intestine(4.8)
  • Nervous system(4.7)
  • Eye(4.5)
  • Muscle(4.5)
  • Skin(4.5)
  • Stomach(4.5)
  • Blood(4.2)
  • Kidney(4.2)
  • Pancreas(4.2)
  • Liver(4.1)
  • Bone(3.9)
  • Lymph node(2.6)
  • Spleen(2.6)
  • Bone marrow(2.5)
  • Thyroid gland(2.5)
  • Gall bladder(2.3)
  • Adrenal gland(2.1)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with PABPC1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PABPC1 Gene

Orthologs for PABPC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PABPC1 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 100 (a)
ManyToMany
-- 34
  • 90 (a)
ManyToMany
-- 34
  • 89 (a)
ManyToMany
-- 34
  • 76 (a)
ManyToMany
-- 34
  • 69 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 99 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PABPC1 33 34
  • 97.01 (n)
cow
(Bos Taurus)
Mammalia PABPC1 33 34
  • 95.96 (n)
mouse
(Mus musculus)
Mammalia Pabpc1 33 16 34
  • 95.18 (n)
Pabpc6 34
  • 81 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pabpc1 33
  • 94.97 (n)
chicken
(Gallus gallus)
Aves PABPC1 33 34
  • 88.1 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 93 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia pabpc1 33
  • 82.38 (n)
African clawed frog
(Xenopus laevis)
Amphibia pabpc1-prov 33
zebrafish
(Danio rerio)
Actinopterygii pabpc1b 33 34
  • 78.85 (n)
pabpc1 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8813 33
fruit fly
(Drosophila melanogaster)
Insecta pAbp 35
  • 57 (a)
CG4612 35
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea pab-2 35
  • 60 (a)
pab-1 35 33
  • 58.99 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MIP6 36
thale cress
(Arabidopsis thaliana)
eudicotyledons PAB8 33
  • 54.76 (n)
soybean
(Glycine max)
eudicotyledons Gma.16632 33
rice
(Oryza sativa)
Liliopsida Os08g0314800 33
  • 55.11 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.4189 33
wheat
(Triticum aestivum)
Liliopsida Ta.25019 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4802 33
Species where no ortholog for PABPC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PABPC1 Gene

ENSEMBL:
Gene Tree for PABPC1 (if available)
TreeFam:
Gene Tree for PABPC1 (if available)

Paralogs for PABPC1 Gene

genes like me logo Genes that share paralogs with PABPC1: view

Variants for PABPC1 Gene

Sequence variations from dbSNP and Humsavar for PABPC1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000024118 -- 100,721,823(+) GGAAG(A/G)CCTCG upstream-variant-2KB, utr-variant-5-prime
rs1000115942 -- 100,710,596(+) TGAAC(A/C)TAGAA intron-variant
rs1000541945 -- 100,713,931(+) AAAAA(-/T)AATTC intron-variant
rs1000629943 -- 100,720,512(+) AAGTT(G/T)ACTAT intron-variant
rs1000648181 -- 100,719,494(+) ATCAA(C/T)GTAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PABPC1 Gene

Variant ID Type Subtype PubMed ID
esv2050419 CNV deletion 18987734
esv2737360 CNV deletion 23290073
esv2737361 CNV deletion 23290073
esv2737364 CNV deletion 23290073
esv2737365 CNV deletion 23290073
esv3444716 CNV duplication 20981092
esv3618195 CNV loss 21293372
nsv1077060 CNV deletion 25765185
nsv824694 CNV gain 20364138
nsv971340 CNV duplication 23825009

Variation tolerance for PABPC1 Gene

Residual Variation Intolerance Score: 90.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.50; 94.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PABPC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PABPC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PABPC1 Gene

Disorders for PABPC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PABPC1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
motor neuron disease
  • motor neuron diseases
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PABPC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PABPC1
genes like me logo Genes that share disorders with PABPC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PABPC1 Gene

Publications for PABPC1 Gene

  1. Molecular determinants of PAM2 recognition by the MLLE domain of poly(A)-binding protein. (PMID: 20096703) Kozlov G … Gehring K (Journal of molecular biology 2010) 3 4 22 60
  2. A competition between stimulators and antagonists of Upf complex recruitment governs human nonsense-mediated mRNA decay. (PMID: 18447585) Singh G … Lykke-Andersen J (PLoS biology 2008) 3 4 22 60
  3. IMP1 interacts with poly(A)-binding protein (PABP) and the autoregulatory translational control element of PABP-mRNA through the KH III-IV domain. (PMID: 17212783) Patel GP … Bag J (The FEBS journal 2006) 3 4 22 60
  4. Affinity purification of ARE-binding proteins identifies polyA-binding protein 1 as a potential substrate in MK2-induced mRNA stabilization. (PMID: 12565831) Bollig F … Holtmann H (Biochemical and biophysical research communications 2003) 3 4 22 60
  5. PABP1 identified as an arginine methyltransferase substrate using high-density protein arrays. (PMID: 11850402) Lee J … Bedford MT (EMBO reports 2002) 3 4 22 60

Products for PABPC1 Gene

Sources for PABPC1 Gene

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