SARNP
Description
The SARNP (SAP domain containing ribonucleoprotein) is a protein-coding gene located on chromosome 12.
SAP domain-containing ribonucleoprotein is a protein that in humans is encoded by the SARNP gene.
SARNP binds to both single-stranded and double-stranded DNA, with a stronger preference for single-stranded DNA. It specifically binds to scaffold/matrix attachment region DNA and also interacts with single-stranded RNA. SARNP enhances the RNA unwinding activity of DDX39A, suggesting a role in RNA processing. It is thought to participate in the regulation of cell growth, metabolism, and potentially carcinogenesis. SARNP is a component of the TREX complex, which connects mRNA transcription, processing, and nuclear export. It specifically associates with spliced mRNA, not unspliced pre-mRNA. TREX is recruited to spliced mRNAs independently of transcription, binds upstream of the exon-junction complex (EJC), and is recruited to the 5' end of mRNA in a splicing- and cap-dependent manner. TREX functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and the production of infectious virus.
SARNP is also known as CIP29, HCC1, HSPC316, THO1.
Associated Diseases
- retinitis pigmentosa
- snowflake vitreoretinal degeneration
- X-linked retinoschisis
- Coats disease
- cataract 50 with or without glaucoma
- birdshot chorioretinopathy
- isolated ectopia lentis
- Stickler syndrome type 2
- Wagner disease
- hemoglobin D disease
- megalocornea
- X-linked retinal dysplasia
- familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
- aniridia
- retinitis pigmentosa and erythrocytic microcytosis
- morning glory syndrome
