ICE1: Interactor of Little Elongation Complex ELL Subunit 1
A key component of the Little Elongation Complex (LEC) involved in snRNA transcription and RNA polymerase II elongation.
Gene Information Card
| Symbol | ICE1 |
|---|---|
| Full Name | Interactor of Little Elongation Complex ELL Subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.3 |
| NCBI Gene ID | 23379 ncbi.nlm.nih.gov/gene/23379 |
| Ensembl ID | ENSG00000113580 |
| UniProt ID | Q9Y6Y0 |
| OMIM ID | 617884 |
| HGNC ID | 28964 |
| Aliases | KIAA0947, LEC1 |
Description
ICE1 encodes a component of the Little Elongation Complex (LEC), which is essential for transcription of small nuclear RNAs (snRNAs) by RNA polymerase II. The protein interacts with ELL (eleven-nineteen lysine-rich leukemia factor) and stabilizes the LEC complex, facilitating efficient transcription elongation and snRNA 3'-end processing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain abnormalities | Loss-of-function mutations in ICE1 disrupt LEC function, impairing snRNA transcription and neuronal development | ClinVar, OMIM |
| Intellectual disability | Homozygous or compound heterozygous mutations in ICE1 lead to global developmental delay | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Heart | 8.9 | Low |
| Liver | 6.1 | Low |
| Kidney | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | Medium |
| HeLa | 11.5 | Medium |
| K562 | 9.8 | Low |
| HepG2 | 8.2 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.226C>T (p.Arg76*) | Nonsense | Rare | Premature stop, loss of function |
| c.1045G>A (p.Gly349Arg) | Missense | Rare | Impaired protein stability and LEC assembly |
| c.1687_1688del (p.Leu563Valfs*2) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause premature termination or protein truncation, leading to loss of ICE1 function and LEC complex disruption.
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)
Pathways
• Little Elongation Complex (LEC) pathway
• snRNA transcription by RNA polymerase II
Protein Summary
ICE1 is a 1,026-amino acid protein that localizes to the nucleus and serves as a scaffold for the Little Elongation Complex. It directly binds ELL and other LEC subunits, promoting RNA polymerase II elongation and proper 3'-end processing of snRNAs. Loss of ICE1 leads to reduced snRNA levels and global transcriptional defects.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ICE1 Knockout HEK293 Cell Line | EDJ-KQ7995 | Human | 23379 | Details Get a Quote |
| ICE1 Knockout A-549 Cell Line | EDJ-KQ33729 | Human | 23379 | Details Get a Quote |
| ICE1 Knockout HCT 116 Cell Line | EDJ-KQ33730 | Human | 23379 | Details Get a Quote |
| ICE1 Knockout HeLa Cell Line | EDJ-KQ33731 | Human | 23379 | Details Get a Quote |
