Aliases for IER3IP1 Gene
External Ids for IER3IP1 Gene
Previous GeneCards Identifiers for IER3IP1 Gene
This gene encodes a small protein that is localized to the endoplasmic reticulum (ER) and may play a role in the ER stress response by mediating cell differentiation and apoptosis. Transcription of this gene is regulated by tumor necrosis factor alpha and specificity protein 1 (Sp1). Mutations in this gene may play a role in microcephaly, epilepsy, and diabetes syndrome (MEDS), and a pseudogene of this gene is located on the long arm of chromosome 12. [provided by RefSeq, Dec 2011]
GeneCards Summary for IER3IP1 Gene
IER3IP1 (Immediate Early Response 3 Interacting Protein 1) is a Protein Coding gene. Diseases associated with IER3IP1 include microcephaly, epilepsy, and diabetes syndrome and primary microcephaly-epilepsy-permanent neonatal diabetes syndrome. An important paralog of this gene is ENSG00000267228.
UniProtKB/Swiss-Prot for IER3IP1 Gene
May be implicated in the regulation of apoptosis. May be involved in protein transport between endoplasmic reticulum and Golgi apparatus (By similarity).