ATF7IP

Chr 12

activating transcription factor 7 interacting protein

Also known as: AM, ATF-IP, ATF7IP1, MCAF, MCAF1, p621

NCBI Gene: 55729 ENSG00000171681 UniProt: Q6VMQ6

ATF7IP encodes a nuclear protein that regulates gene expression by recruiting transcriptional complexes to chromatin and facilitating histone modifications, particularly H3K9 trimethylation for gene silencing. Mutations cause autosomal dominant neurodevelopmental disorder with intellectual disability, seizures, and behavioral abnormalities. This gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.21), indicating that heterozygous mutations are likely pathogenic.

GeneReviews ResearchSummary from RefSeq, UniProt

ATF7IP is a multifunctional nuclear protein that associates with heterochromatin. It can act as a transcriptional coactivator or corepressor depending upon its binding partners (summary by Liu et al., 2009 [PubMed 19106100]).[supplied by OMIM, Nov 2010]

GeneReviews ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.21

LOEUF· LoF intol.

LOF

Mechanism· predicted

📖

GeneReview available — ATF7IP