ERH Gene (Enhancer of Rudimentary Homolog)
A small, highly conserved gene involved in cell cycle regulation, mRNA splicing, and tumorigenesis.
Gene Information Card
| Symbol | ERH |
|---|---|
| Full Name | Enhancer of Rudimentary Homolog |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.1 |
| NCBI Gene ID | 2079 ncbi.nlm.nih.gov/gene/2079 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | P84090 |
| OMIM ID | 600319 |
| HGNC ID | 3447 |
| Aliases | DMC1, HEN1, enhancer of rudimentary homolog (Drosophila) |
Description
The ERH gene encodes a small, highly conserved protein of 104 amino acids that functions as an enhancer of the rudimentary gene in Drosophila. In humans, ERH is involved in cell cycle progression, mRNA splicing, and pyrimidine metabolism. It interacts with proteins such as CIZ1 and SF3B1, and its dysregulation is implicated in several cancers, including hepatocellular carcinoma and breast cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | ERH overexpression promotes cell proliferation and tumor growth via interaction with CIZ1 | PMID: 25605248 |
| Breast cancer | ERH knockdown reduces cell viability and induces apoptosis; altered expression linked to poor prognosis | PMID: 23376485 |
| Colorectal cancer | ERH upregulation associated with tumor progression and metastasis | PMID: 27555519 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Breast | 8.3 | Low |
| Colon | 10.1 | Medium |
| Lung | 9.7 | Low |
| Brain | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.8 | Hepatocellular carcinoma cell line |
| MCF7 | 9.5 | Breast cancer cell line |
| HCT116 | 11.2 | Colorectal carcinoma cell line |
| A549 | 8.9 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Start codon loss; likely loss of function |
| c.104C>T (p.Pro35Leu) | Missense | <0.01% | Unknown functional effect |
| c.205G>A (p.Gly69Ser) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may disrupt protein-protein interactions or stability, but no well-characterized loss-of-function mutations are reported.
Gain of Function (GOF)
Not described; ERH overexpression in tumors is typically due to transcriptional dysregulation rather than activating mutations.
Dominant Negative (DN)
No dominant negative mutations have been reported for ERH.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • mRNA splicing (GO:0000398) | • cell cycle (GO:0007049) |
| • UMP biosynthetic process (GO:0006222) |
Pathways
• Spliceosome (Reactome: R-HSA-72163)
• Pyrimidine metabolism (KEGG: hsa00240)
Protein Summary
The ERH protein (UniProt P84090) is a 104-amino acid, 12 kDa nuclear protein that adopts a unique dimeric structure with a beta-sandwich fold. It is highly conserved from yeast to humans. ERH participates in pre-mRNA splicing as part of the spliceosome complex and interacts with the splicing factor SF3B1. It also binds CIZ1 to regulate cell cycle progression. Overexpression of ERH is observed in multiple cancers and promotes cell proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SERHL2 Knockout HEK293 Cell Line | EDJ-KQ11731 | Human | 253190 | Details Get a Quote |
| CATSPERH Knockout HEK293 Cell Line | EDJ-KQ15842 | Human | 100130348 | Details Get a Quote |
| SERHL2 Knockout HCT 116 Cell Line | EDJ-KQ40095 | Human | 253190 | Details Get a Quote |
| SERHL2 Knockout HeLa Cell Line | EDJ-KQ40096 | Human | 253190 | Details Get a Quote |
| CATSPERH Knockout HeLa Cell Line | EDJ-KQ60808 | Human | 100130348 | Details Get a Quote |
| SERHL2 Knockout A-549 Cell Line | EDJ-KQ67708 | Human | 253190 | Details Get a Quote |
| CATSPERH Knockout A-549 Cell Line | EDJ-KQ69278 | Human | 100130348 | Details Get a Quote |
| CATSPERH Knockout HCT 116 Cell Line | EDJ-KQ77633 | Human | 100130348 | Details Get a Quote |
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