🧬 基因注释：PABPN1
官方名称：poly(A) binding protein nuclear 1
功能摘要：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 the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. This gene contains a GCG trinucleotide repeat at the 5' end of the coding region, and expansion of this repeat from the normal 6 copies to 8-13 copies leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Related pseudogenes have been identified on chromosomes 19 and X. Read-through transcription also exists between this gene and the neighboring upstream BCL2-like 2 (BCL2L2) gene. [provided by RefSeq, Dec 2010].
- HNRNPC 综合评分: 0.546 · 证据 2 条
- HNRNPH1 综合评分: 0.474 · 证据 2 条
- HNRNPA1 综合评分: 0.448 · 证据 2 条
- Srsf3 综合评分: 0.444 · 证据 1 条
- FUS 综合评分: 0.424 · 证据 1 条
- SRSF9 综合评分: 0.424 · 证据 1 条
- fus 综合评分: 0.424 · 证据 1 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- QKI 综合评分: 0.412 · 证据 1 条
- HNRNPK 综合评分: 0.362 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- Rnps1 综合评分: 0.336 · 证据 1 条
- U2af1 综合评分: 0.336 · 证据 1 条
- FUBP1 综合评分: 0.312 · 证据 2 条
- RBM10 综合评分: 0.312 · 证据 2 条
- RBM15 综合评分: 0.312 · 证据 2 条
- RBM22 综合评分: 0.312 · 证据 2 条
- TIA1 综合评分: 0.312 · 证据 1 条
- Srsf1 综合评分: 0.310 · 证据 1 条