TCERG1: Transcription Elongation Regulator 1
A key regulator of RNA polymerase II transcription elongation and pre-mRNA splicing
Gene Information Card
| Symbol | TCERG1 |
|---|---|
| Full Name | Transcription Elongation Regulator 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.2 |
| NCBI Gene ID | 10915 ncbi.nlm.nih.gov/gene/10915 |
| Ensembl ID | ENSG00000113649 |
| UniProt ID | O14776 |
| OMIM ID | 605501 |
| HGNC ID | 11627 |
| Aliases | CA150, TAF2S, TAFII150 |
Description
TCERG1 (Transcription Elongation Regulator 1) encodes a nuclear protein that functions as a regulator of RNA polymerase II transcription elongation and pre-mRNA splicing. The protein contains multiple FF domains and a WW domain, which mediate interactions with transcription and splicing factors. It is involved in the coupling of transcription and splicing, and plays a role in cellular differentiation and proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Huntington disease | TCERG1 interacts with huntingtin protein; altered expression may contribute to transcriptional dysregulation | PMID: 11751639 |
| Spinocerebellar ataxia type 1 | TCERG1 interacts with ataxin-1; implicated in transcriptional dysregulation | PMID: 14675534 |
| Colorectal cancer | Differential expression of TCERG1 observed; potential role in tumorigenesis | PMID: 20628086 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.7 | Low |
| Kidney | 9.1 | Low |
| Testis | 15.2 | Medium |
| Lung | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.3 | Embryonic kidney cells |
| HeLa | 11.2 | Cervical cancer cells |
| K562 | 9.8 | Leukemia cells |
| SH-SY5Y | 13.1 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.01% | p.Pro412Ser; unknown functional impact |
| c.567_568del | Frameshift | Rare | p.Glu189fs; predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • regulation of transcription (GO:0006355) | • transcription elongation from RNA polymerase II promoter (GO:0006368) |
| • mRNA splicing (GO:0000398) | • protein binding (GO:0005515) |
| • nucleus (GO:0005634) |
Pathways
• RNA polymerase II transcription elongation
• mRNA splicing - major pathway
Protein Summary
TCERG1 is a 1098-amino acid nuclear protein with a molecular weight of approximately 120 kDa. It contains an N-terminal WW domain and multiple C-terminal FF domains. The WW domain mediates interactions with proline-rich motifs, while FF domains bind to phosphorylated RNA polymerase II and splicing factors. TCERG1 shuttles between nuclear speckles and transcription sites, facilitating the coupling of transcription elongation and pre-mRNA processing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TCERG1L Knockout HEK293 Cell Line | EDJ-KQ11836 | Human | 256536 | Details Get a Quote |
| TCERG1 Knockout HEK293 Cell Line | EDJ-KQ51018 | Human | 10915 | Details Get a Quote |
| TCERG1 Knockout HeLa Cell Line | EDJ-KQ55525 | Human | 10915 | Details Get a Quote |
| TCERG1L Knockout HeLa Cell Line | EDJ-KQ59306 | Human | 256536 | Details Get a Quote |
| TCERG1 Knockout A-549 Cell Line | EDJ-KQ64015 | Human | 10915 | Details Get a Quote |
| TCERG1L Knockout A-549 Cell Line | EDJ-KQ67773 | Human | 256536 | Details Get a Quote |
| TCERG1 Knockout HCT 116 Cell Line | EDJ-KQ72466 | Human | 10915 | Details Get a Quote |
| TCERG1L Knockout HCT 116 Cell Line | EDJ-KQ76155 | Human | 256536 | Details Get a Quote |
