ACIN1: Apoptotic Chromatin Condensation Inducer 1
A key regulator of chromatin structure, apoptosis, and RNA splicing with implications in cancer and neurodegeneration.
Gene Information Card
| Symbol | ACIN1 |
|---|---|
| Full Name | apoptotic chromatin condensation inducer 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 22985 ncbi.nlm.nih.gov/gene/22985 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | Q9UKV3 |
| OMIM ID | 604562 |
| HGNC ID | 17066 |
| Aliases | ACINUS, KIAA0670, fSAP152 |
Description
ACIN1 (apoptotic chromatin condensation inducer 1) encodes a protein involved in apoptotic chromatin condensation, RNA splicing, and cell cycle regulation. It is a component of the spliceosome and the apoptosis-associated speck-like complex. The gene is located on chromosome 14q11.2 and is widely expressed.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Dysregulation of ACIN1 expression and splicing variants may alter apoptosis and cell proliferation. | COSMIC; PMID: 23535731 |
| Neurodegenerative disorders | ACIN1 mutations or mis-splicing may contribute to neuronal apoptosis. | ClinVar; PMID: 25644381 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 18.5 | High |
| Brain | 12.3 | Medium |
| Lung | 9.8 | Medium |
| Liver | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.1 | Cervical cancer cell line |
| HEK293 | 12.4 | Embryonic kidney cells |
| K562 | 10.7 | Leukemia cell line |
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; truncated protein |
| c.567G>A (p.Glu189Lys) | Missense | 0.2% | Unknown; possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*) lead to premature stop codons and loss of protein function.
Gain of Function (GOF)
Not well documented; no clear gain-of-function mutations reported.
Dominant Negative (DN)
Some missense variants may act in a dominant-negative manner by disrupting spliceosome assembly.
View complete mutation data：
Gene Ontology (GO)
| • apoptotic chromatin condensation | • RNA splicing |
| • mRNA processing | • nucleus |
| • spliceosomal complex |
Pathways
• Apoptosis
• mRNA Splicing - Major Pathway
Protein Summary
The ACIN1 protein (UniProt Q9UKV3) is a 1342-amino acid nuclear protein that contains an RNA recognition motif and a SAP domain. It is essential for apoptotic chromatin condensation and functions as a scaffold in the spliceosome. Alternative splicing generates multiple isoforms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACIN1 Knockout HEK293 Cell Line | EDJ-KQ7764 | Human | 22985 | Details Get a Quote |
| ACIN1 Knockout HCT 116 Cell Line | EDJ-KQ33228 | Human | 22985 | Details Get a Quote |
| ACIN1 Knockout HeLa Cell Line | EDJ-KQ33229 | Human | 22985 | Details Get a Quote |
| ACIN1 Knockout A-549 Cell Line | EDJ-KQ64163 | Human | 22985 | Details Get a Quote |
