IST1 Gene
IST1, ESCRT-III Associated Protein
Gene Information Card
| Symbol | IST1 |
|---|---|
| Full Name | IST1, ESCRT-III associated protein |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.2 |
| NCBI Gene ID | 9798 ncbi.nlm.nih.gov/gene/9798 |
| Ensembl ID | ENSG00000103175 |
| UniProt ID | Q9P2F8 |
| OMIM ID | 617928 |
| HGNC ID | 29163 |
| Aliases | IST1 homolog, hIST1, KIAA0174, MITD1 |
Description
IST1 (IST1, ESCRT-III associated protein) encodes a component of the endosomal sorting complex required for transport (ESCRT) machinery. The protein is involved in multivesicular body biogenesis, cytokinesis, and membrane remodeling. It interacts with CHMP1B and VPS4 to facilitate cargo sorting and membrane scission.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of ESCRT-III components may alter endosomal trafficking and cell division, contributing to tumorigenesis. | COSMIC; literature |
| Neurodevelopmental disorders | Mutations in ESCRT pathway genes have been implicated in neuronal development; IST1 variants are rare but may contribute. | OMIM; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| HEK293 | 9.5 | Embryonic kidney |
| A549 | 7.8 | Lung carcinoma |
| K562 | 6.4 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Nonsense | <0.01% | Predicted loss-of-function |
| c.250G>A | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants predicted to cause protein truncation or nonsense-mediated decay.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
Not established; potential dominant-negative effects of certain missense variants are speculative.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ESCRT-III pathway (Reactome: R-HSA-917729)
• Endosomal sorting complex required for transport (KEGG: hsa04144)
Protein Summary
The IST1 protein is a 366-amino acid component of the ESCRT-III complex. It contains a MIT domain that mediates interaction with VPS4 and is essential for membrane scission during endosomal sorting and cytokinesis. IST1 localizes to the midbody during cell division and is required for abscission.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IST1 Knockout HEK293 Cell Line | EDJ-KQ6751 | Human | 9798 | Details Get a Quote |
| IST1 Knockout A-549 Cell Line | EDJ-KQ31170 | Human | 9798 | Details Get a Quote |
| IST1 Knockout HCT 116 Cell Line | EDJ-KQ31171 | Human | 9798 | Details Get a Quote |
| IST1 Knockout HeLa Cell Line | EDJ-KQ31172 | Human | 9798 | Details Get a Quote |
