TCERG1 (transcription elongation regulator 1)
- symbol:
- TCERG1
- locus group:
- protein-coding gene
- location:
- 5q32
- gene_family:
- alias symbol:
- CA150|Urn1
- alias name:
- transcription factor CA150|co-acti…
- entrez id:
- 10915
- ensembl gene id:
- ENSG00000113649
- ucsc gene id:
- uc003lob.4
- refseq accession:
- NM_001040006
- hgnc_id:
- HGNC:15630
- approved reserved:
- 2001-06-20
TCERG1（转录延伸调节因子1，英文全称Transcription Elongation Regulator 1）是一个参与转录延伸调控的基因，其编码的蛋白质在RNA聚合酶II介导的转录延伸过程中发挥重要作用。该蛋白通过与其他转录延伸因子（如DSIF和NELF复合物）相互作用，调节RNA聚合酶II在基因转录中的暂停和释放，从而影响基因表达的效率和准确性。TCERG1的生物学功能主要体现在维持转录过程的动态平衡，确保mRNA合成的正确性和完整性。其主要作用位点是细胞核，特别是在转录活跃的染色质区域。TCERG1的突变可能导致转录延伸异常，进而影响下游基因的表达，可能引发发育缺陷或疾病。研究表明，TCERG1与某些神经退行性疾病（如亨廷顿病）和癌症有关，其异常表达可能通过扰乱转录调控网络促进疾病进展。如果TCERG1过表达，可能增强某些致癌基因的转录，导致细胞增殖失控；而降低表达则可能影响关键基因的正常转录，引发细胞功能障碍。TCERG1属于转录延伸因子相关基因家族，该家族成员通常具有调控RNA聚合酶II活性的功能，并在转录后修饰和mRNA加工中发挥作用。基因家族的共性包括参与转录延伸、暂停和终止的调控，以及与染色质重塑因子的协同作用。目前关于TCERG1的研究仍在深入，其在疾病中的具体机制和潜在治疗靶点值得进一步探索。
This gene encodes a nuclear protein that regulates transcriptional elongation and pre-mRNA splicing. The encoded protein interacts with the hyperphosphorylated C-terminal domain of RNA polymerase II via multiple FF domains, and with the pre-mRNA splicing factor SF1 via a WW domain. Alternative splicing results in multiple transcripts variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Ontology
Subcellular localization of TCERG1 (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for TCERG1:
| Interacting Gene | Interaction | Source/Score |
| Disease | Score | NofPmids | NofSnps | Source |
| Huntington Disease | 0.00272435 | 1 | 0 | LHGDN |
| Celiac Disease | 0.002367032 | 1 | 0 | GAD |
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