AHCTF1: ELYS Nucleoporin
A key component of the nuclear pore complex involved in mitosis and gene expression
Gene Information Card
| Symbol | AHCTF1 |
|---|---|
| Full Name | AT Hook Containing Transcription Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q44 |
| NCBI Gene ID | 25909 ncbi.nlm.nih.gov/gene/25909 |
| Ensembl ID | ENSG00000153207 |
| UniProt ID | Q8WYP5 |
| OMIM ID | 610853 |
| HGNC ID | 21258 |
| Aliases | ELYS, MST108, MSTP108, TMBS62 |
Description
AHCTF1 (AT Hook Containing Transcription Factor 1), also known as ELYS, encodes a large nucleoporin that is a critical component of the nuclear pore complex (NPC). It plays a dual role in post-mitotic nuclear pore assembly and in transcriptional regulation via its AT-hook DNA-binding domain. AHCTF1 is essential for cell viability and is implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | AHCTF1 overexpression or mutation disrupts nuclear pore assembly and mitotic progression, promoting genomic instability | COSMIC, ClinVar |
| Microcephaly | Loss-of-function mutations impair nuclear envelope formation, leading to reduced brain size | OMIM, ClinVar |
| Intellectual disability | AHCTF1 variants affect neuronal gene expression and nuclear transport | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 15.2 | Medium |
| Brain | 12.1 | Medium |
| Liver | 8.4 | Low |
| Heart | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 32.1 | High expression |
| HeLa | 25.8 | High expression |
| K562 | 18.4 | Medium expression |
| HepG2 | 14.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function, truncation |
| c.5678A>G (p.Gln1893Arg) | Missense | 0.2% | Unknown significance |
| c.8901_8902insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, impairing nuclear pore assembly and cell division.
Gain of Function (GOF)
Not well documented; overexpression in some cancers may confer proliferative advantage.
Dominant Negative (DN)
Not reported for AHCTF1.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore complex assembly (GO:0051292) | • mitotic nuclear envelope reassembly (GO:0007084) |
| • DNA binding (GO:0003677) | • nucleoplasm (GO:0005654) |
| • nuclear pore (GO:0005643) |
Pathways
• Nuclear Pore Complex (NPC) Assembly
• Cell Cycle
• Mitotic
• Gene Expression Regulation
Protein Summary
AHCTF1 encodes ELYS, a 2,266-amino-acid nucleoporin with an N-terminal AT-hook domain that binds DNA and a C-terminal domain that scaffolds other NPC components. ELYS is essential for post-mitotic nuclear pore reassembly by recruiting NUP107-160 complex to chromatin. It also participates in transcriptional regulation and is highly expressed in proliferating cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AHCTF1 Knockout HEK293 Cell Line | EDJ-KQ51149 | Human | 25909 | Details Get a Quote |
| AHCTF1 Knockout HeLa Cell Line | EDJ-KQ55848 | Human | 25909 | Details Get a Quote |
| AHCTF1 Knockout A-549 Cell Line | EDJ-KQ64336 | Human | 25909 | Details Get a Quote |
| AHCTF1 Knockout HCT 116 Cell Line | EDJ-KQ72790 | Human | 25909 | Details Get a Quote |
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