ATF7IP
Activating Transcription Factor 7 Interacting Protein
Gene Information Card
| Symbol | ATF7IP |
|---|---|
| Full Name | Activating Transcription Factor 7 Interacting Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 12p13.1 |
| NCBI Gene ID | 55729 ncbi.nlm.nih.gov/gene/55729 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q6VMQ6 |
| OMIM ID | 613644 |
| HGNC ID | 29118 |
| Aliases | MCG1, MBD1-containing chromatin-associated factor 1, p621, ATF-7 interacting protein |
Description
ATF7IP encodes a protein that interacts with activating transcription factor 7 (ATF7) and is involved in transcriptional regulation and chromatin remodeling. It functions as a cofactor for the histone methyltransferase SETDB1, facilitating H3K9me3 deposition and gene silencing. The protein also plays a role in DNA methylation and heterochromatin formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of ATF7IP expression may alter chromatin silencing and promote oncogenesis via SETDB1-mediated H3K9me3 changes. | COSMIC; literature |
| Intellectual disability | Mutations in ATF7IP have been associated with neurodevelopmental phenotypes, possibly due to disrupted chromatin regulation. | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 6.5 | Low expression |
| HepG2 | 5.2 | Low 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; predicted to cause protein truncation |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function; predicted to cause protein truncation |
| c.890A>G (p.Gln297Arg) | Missense | <0.1% | Uncertain significance; may affect protein interaction |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are likely loss-of-function.
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)
| • transcription coactivator activity | • chromatin binding |
| • protein binding | • regulation of transcription by RNA polymerase II |
| • negative regulation of transcription by RNA polymerase II | • histone H3K9 methyltransferase activity |
Pathways
• Chromatin modifying enzymes
• H3K9me3 methylation
• Transcriptional regulation by ATF7
Protein Summary
ATF7IP is a 1270-amino acid protein that contains a coiled-coil domain and interacts with ATF7 and SETDB1. It is essential for SETDB1-mediated histone H3 lysine 9 trimethylation (H3K9me3) and heterochromatin formation. The protein shuttles between nucleus and cytoplasm and is involved in gene silencing, DNA repair, and cellular differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATF7IP2 Knockout HEK293 Cell Line | EDJ-KQ9442 | Human | 80063 | Details Get a Quote |
| ATF7IP Knockout HEK293 Cell Line | EDJ-KQ11982 | Human | 55729 | Details Get a Quote |
| ATF7IP2 Knockout A-549 Cell Line | EDJ-KQ36130 | Human | 80063 | Details Get a Quote |
| ATF7IP2 Knockout HCT 116 Cell Line | EDJ-KQ36131 | Human | 80063 | Details Get a Quote |
| ATF7IP2 Knockout HeLa Cell Line | EDJ-KQ36132 | Human | 80063 | Details Get a Quote |
| ATF7IP Knockout A-549 Cell Line | EDJ-KQ40549 | Human | 55729 | Details Get a Quote |
| ATF7IP Knockout HCT 116 Cell Line | EDJ-KQ40550 | Human | 55729 | Details Get a Quote |
| ATF7IP Knockout HeLa Cell Line | EDJ-KQ40551 | Human | 55729 | Details Get a Quote |
