Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8106
Gene name Gene Name - the full gene name approved by the HGNC.
Poly(A) binding protein nuclear 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PABPN1
Synonyms (NCBI Gene) Gene synonyms aliases
OPMD, PAB2, PABII, PABP-2, PABP2
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails at the 3` ends of eukaryotic transcripts and controls the size of t
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT049653 hsa-miR-92a-3p CLASH 23622248
MIRT040712 hsa-miR-92b-3p CLASH 23622248
MIRT040418 hsa-miR-615-3p CLASH 23622248
MIRT622940 hsa-miR-670-3p HITS-CLIP 23824327
MIRT622945 hsa-miR-5571-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade ISS
GO:0000398 Process MRNA splicing, via spliceosome TAS
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005515 Function Protein binding IPI 11371506, 15169763, 19515850, 20467437, 23665581, 23788676, 27871484
GO:0005634 Component Nucleus IDA 19364924, 27209344
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602279 8565 ENSG00000100836
Protein
UniProt ID Q86U42
Protein name Polyadenylate-binding protein 2 (PABP-2) (Poly(A)-binding protein 2) (Nuclear poly(A)-binding protein 1) (Poly(A)-binding protein II) (PABII) (Polyadenylate-binding nuclear protein 1)
Protein function Involved in the 3'-end formation of mRNA precursors (pre-mRNA) by the addition of a poly(A) tail of 200-250 nt to the upstream cleavage product (By similarity). Stimulates poly(A) polymerase (PAPOLA) conferring processivity on the poly(A) tail e
PDB 3B4D , 3B4M , 3UCG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 174 243 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
MAAAAAAAAAAGAAGGRGSGPGRRRHLVPGAGGEAGEGAPGGAGDYGNGLESEELEPEEL
LLEPEPEPEPEEEPPRPRAPPGAPGPGPGSGAPGSQEEEEEPGLVEGDPGDGAIEDPELE
AIKARVREMEEEAEKLKELQNEVEKQMNMSPPPGNAGPVIMSIEEKMEADARSIYVGNVD
YGATAEELEAHFHGCGSVNRVTILCDKFSGHPKGFAYIEFSDKESVRTSLALDESLFRGR
QIK
VIPKRTNRPGISTTDRGFPRARYRARTTNYNSSRSRFYSGFNSRPRGRVYRGRARAT
SWYSPY
Sequence length 306
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  mRNA surveillance pathway
Influenza A
  Inhibition of Host mRNA Processing and RNA Silencing
mRNA Splicing - Major Pathway
mRNA 3'-end processing
RNA Polymerase II Transcription Termination
Processing of Intronless Pre-mRNAs
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Myopathy Myopathy rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166
View all (81 more)
Oculopharyngeal muscular dystrophy Muscular Dystrophy, Oculopharyngeal, Oculopharyngeal muscular dystrophy rs193922941, rs1594987281 12823221, 25728001, 16239242
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis, Progressive ptosis ClinVar
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Alternating hemiplegia of childhood Associate 32929364
Breast Neoplasms Associate 32929364
Carcinogenesis Associate 32929364
Carcinoma Non Small Cell Lung Inhibit 24975429
Deglutition Disorders Associate 24310666
Drug Related Side Effects and Adverse Reactions Associate 16101680
Hepatoblastoma Associate 37478905
Mitochondrial Diseases Associate 27854203
Movement Disorders Associate 33077830
Muscle Weakness Associate 24310666, 24449978, 27854203, 36847015