Gene Gene information from NCBI Gene database.
Entrez ID 26986
Gene name Poly(A) binding protein cytoplasmic 1
Gene symbol PABPC1
Synonyms (NCBI Gene)
PAB1PABPPABP1PABPC2PABPL1
Chromosome 8
Chromosome location 8q22.3
Summary 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 recruitm
miRNA miRNA information provided by mirtarbase database.
365
miRTarBase ID miRNA Experiments Reference
MIRT004993 hsa-miR-125b-5p Microarray 17891175
MIRT028502 hsa-miR-30a-5p Proteomics 18668040
MIRT052261 hsa-let-7b-5p CLASH 23622248
MIRT047745 hsa-miR-10a-5p CLASH 23622248
MIRT047501 hsa-miR-10b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
GO ID Ontology Definition Evidence Reference
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IEA
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IDA 25225333
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604679 8554 ENSG00000070756
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P11940
Protein name Polyadenylate-binding protein 1 (PABP-1) (Poly(A)-binding protein 1)
Protein function Binds the poly(A) tail of mRNA, including that of its own transcript, and regulates processes of mRNA metabolism such as pre-mRNA splicing and mRNA stability (PubMed:11051545, PubMed:17212783, PubMed:25480299). Its function in translational init
PDB 1CVJ , 1G9L , 1JGN , 1JH4 , 2K8G , 2RQG , 2RQH , 2X04 , 3KTP , 3KTR , 3KUI , 3KUJ , 3KUR , 3KUS , 3KUT , 3PKN , 3PTH , 4F02 , 4F25 , 4F26 , 5DX1 , 5DX8 , 5DXA , 5LGP , 5LGQ , 5LGR , 5LGS , 7BN3 , 8SMO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 13 83 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 101 168 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 193 262 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 296 364 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00658 PABP 547 614 Poly-adenylate binding protein, unique domain Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
MNPSAPSYPMASLYVGDLHPDVTEAMLYEKFSPAGPILSIRVCRDMITRRSLGYAYVNFQ
QPADAERALDTMNFDVIKGKPVR
IMWSQRDPSLRKSGVGNIFIKNLDKSIDNKALYDTFS
AFGNILSCKVVCDENGSKGYGFVHFETQEAAERAIEKMNGMLLNDRKV
FVGRFKSRKERE
AELGARAKEFTNVYIKNFGEDMDDERLKDLFGKFGPALSVKVMTDESGKSKGFGFVSFER
HEDAQKAVDEMNGKELNGKQIY
VGRAQKKVERQTELKRKFEQMKQDRITRYQGVNLYVKN
LDDGIDDERLRKEFSPFGTITSAKVMMEGGRSKGFGFVCFSSPEEATKAVTEMNGRIVAT
KPLY
VALAQRKEERQAHLTNQYMQRMASVRAVPNPVINPYQPAPPSGYFMAAIPQTQNRA
AYYPPSQIAQLRPSPRWTAQGARPHPFQNMPGAIRPAAPRPPFSTMRPASSQVPRVMSTQ
RVANTSTQTMGPRPAAAAAAATPAVRTVPQYKYAAGVRNPQQHLNAQPQVTMQQPAVHVQ
GQEPLTASMLASAPPQEQKQMLGERLFPLIQAMHPTLAGKITGMLLEIDNSELLHMLESP
ESLRSKVDEAVAVL
QAHQAKEAAQKAVNSATGVPTV
Sequence length 636
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  mRNA surveillance pathway
RNA degradation
  L13a-mediated translational silencing of Ceruloplasmin expression
Deadenylation of mRNA
AUF1 (hnRNP D0) binds and destabilizes mRNA
Translation initiation complex formation
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Pulmonary artery atresia Pathogenic rs80006036 RCV002512182
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, TRANSITIONAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CIC-rearranged sarcoma not provided ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL ATRESIA OF PULMONARY ARTERY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 40653482 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 25111021
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 25111021 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 37311641 Associate
★☆☆☆☆
Found in Text Mining only
Azoospermia Azoospermia Pubtator 26843391 Associate
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm CTD_human_DG 25783786
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 1346789
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CTD_human_DG 21466612
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 26097561 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 33080414 Associate
★☆☆☆☆
Found in Text Mining only