IER3IP1

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]

Description

immediate early response 3 interacting protein 1

Protein family

Disease related genes, Mapped to UniProt SWISS-PROT, Predicted membrane proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014)

Chromosome

18:q21.1 (47152998 - 47176374)

Ensembl ID

ENSG00000134049  (ver. 84.38)

Orthologs

-

UniProt

Q9Y5U9

neXtProt

NX_Q9Y5U9

Human splice variants