IER3IP1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | IER3IP1 |
| Official Name | immediate early response 3 interacting protein 1 [Source:HGNC Symbol;Acc:HGNC:18550] |
| Ensembl ID | ENSG00000134049 |
| Bio databases IDs | |
| Aliases | immediate early response 3 interacting protein 1 |
| Synonyms | 1110057H19RIK, AI644142, HSPC039, immediate early response 3 interacting protein 1, MEDS, PRO2309 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human IER3IP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Yos1-like
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- microcephaly, epilepsy, and diabetes syndrome type 1
- insulin-dependent diabetes mellitus
- benign rolandic epilepsy
- microcephaly, epilepsy, and diabetes syndrome
regulated by
- calcitriol
role in cell
- proliferation
- apoptosis
- differentiation
- organization
- maturation
- dilation in
- condensation in
- dilation
- condensation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Golgi Apparatus
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human IER3IP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- organ growth
- ER to Golgi vesicle-mediated transport
- protein transport
- brain development
- positive regulation of protein secretion
- positive regulation of extracellular matrix constituent secretion
- regulation of fibroblast apoptotic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
- Golgi membrane
- endoplasmic reticulum
- Golgi apparatus
- ER to Golgi transport vesicle
Molecular Function
What the gene product does at the molecular level
- protein binding