rs35303224

This variant is located in the CPSF4 gene.

ClinVar annotation

Benign★★★
3 submitters2 publications

not provided; Uterine corpus endometrial carcinoma; Cholangiocarcinoma; Acute myeloid leukemia; Hepatocellular carcinoma; Malignant tumor of esophagus; Chronic lymphocytic leukemia/small lymphocytic lymphoma; Uveal melanoma; Thymoma; Colon adenocarcinoma; Sarcoma; Melanoma; Nonpapillary renal cell carcinoma; Gastric cancer; Lymphoma; Lung cancer; Ovarian cancer; Clear cell carcinoma of kidney; Familial pancreatic carcinoma; Ovarian serous cystadenocarcinoma; Thyroid cancer, nonmedullary, 1; Adrenocortical carcinoma, hereditary; Cervical cancer

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About CPSF4

Inhibition of the nuclear export of poly(A)-containing mRNAs caused by the influenza A virus NS1 protein requires its effector domain. The NS1 effector domain functionally interacts with the cellular 30 kDa subunit of cleavage and polyadenylation specific factor 4, an essential component of the 3' end processing machinery of cellular pre-mRNAs. In influenza virus-infected cells, the NS1 protein is physically associated with cleavage and polyadenylation specific factor 4, 30kD subunit. Binding of the NS1 protein to the 30 kDa protein in vitro prevents CPSF binding to the RNA substrate and inhibits 3' end cleavage and polyadenylation of host pre-mRNAs. Thus the NS1 protein selectively inhibits the nuclear export of cellular, and not viral, mRNAs. Multiple alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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