PCBP1 Chromosome 2

Poly(rC) binding protein 1
1 variant 1 Health Risk

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What This Gene Does
This intronless gene is thought to have been generated by retrotransposition of a fully processed PCBP-2 mRNA. This gene and PCBP-2 have paralogues (PCBP3 and PCBP4) which are thought to have arisen as a result of duplication events of entire genes. The protein encoded by this gene appears to be multifunctional. It along with PCBP-2 and hnRNPK corresponds to the major cellular poly(rC)-binding protein. It contains three K-homologous (KH) domains which may be involved in RNA binding. This encoded protein together with PCBP-2 also functions as translational coactivators of poliovirus RNA via a sequence-specific interaction with stem-loop IV of the IRES and promote poliovirus RNA replication by binding to its 5'-terminal cloverleaf structure. It has also been implicated in translational control of the 15-lipoxygenase mRNA, human Papillomavirus type 16 L2 mRNA, and hepatitis A virus RNA. The encoded protein is also suggested to play a part in formation of a sequence-specific alpha-globin mRNP complex which is associated with alpha-globin mRNA stability. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Heterogeneous nuclear ribonucleoproteins
Locus Type
gene with protein product
Location
2p13.3
Ensembl
ENSG00000169564
Associated Conditions (1)
Inborn genetic diseases
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS797044899 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
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