IER3IP1
Immediate early response 3-interacting protein 1
Also known as: IR3IP_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y5U9
- Gene
- IER3IP1
- Ensembl
- ENSG00000134049
- Chromosome
- 18
- Canonical length
- 82 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Endoplasmic reticulum
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
82 residues, UniProt reviewed canonical sequence.
>Q9Y5U9|IER3IP1
1 MAFTLYSLLQ AALLCVNAIA VLHEERFLKN IGWGTDQGIG GFGEEPGIKS QLMNLIRSVR
61 TVMRVPLIIV NSIAIVLLLL FGLocalizationUniProt · AlphaFold · HPA
Whether an antibody against IER3IP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 2
- Mean surface accessibility (rSASA)
- 0.54
- Highest tissue expression
- 29 nTPM
Expression across tissuesHPA
Tissue
- kidney: 29 nTPM
- skeletal muscle: 29 nTPM
- tongue: 20 nTPM
- liver: 18 nTPM
- parathyroid gland: 18 nTPM
- adrenal gland: 16 nTPM
Single-cell type
- gastric chief cells: 49 nCPM
- early primary spermatocytes: 41 nCPM
- parietal cells: 39 nCPM
- hepatocytes: 37 nCPM
- enterocytes: 36 nCPM
- enteric transient amplifying cells: 24 nCPM
Immune cell
- plasmacytoid DC: 35 nTPM
- gdT-cell: 25 nTPM
- T-reg: 24 nTPM
- MAIT T-cell: 22 nTPM
- memory CD8 T-cell: 22 nTPM
- memory CD4 T-cell: 21 nTPM
Brain region
- choroid plexus: 18 nTPM
- cerebellum: 17 nTPM
- hypothalamus: 13 nTPM
- pons: 13 nTPM
- white matter: 13 nTPM
- medulla oblongata: 12 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about IER3IP1.
Disease | AllUniProt
Conditions IER3IP1 is implicated in, by any mechanism.
- Microcephaly, epilepsy, and diabetes syndrome 1 (MEDS1) MIM:614231
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 123 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Microcephaly, epilepsy, and diabetes syndrome
- Microcephaly, epilepsy, and diabetes syndrome 1
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.41
- gnomAD pLI
- 0.02
- gnomAD missense Z
- -0.39
- DepMap mean gene effect
- -0.25
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- brain development
- cell maturation
- chromatin organization
- endoplasmic reticulum organization
- endoplasmic reticulum to Golgi vesicle-mediated transport
- gene expression
- glucose homeostasis
- insulin metabolic process
- negative regulation of apoptotic process
- negative regulation of cell population proliferation
- organ growth
- positive regulation of extracellular matrix constituent secretion
- positive regulation of protein secretion
- protein transport
- regulation of fibroblast apoptotic process
- type B pancreatic cell differentiation
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Yos1-like
- Yos1-like
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads IER3IP1 as an antibody target. Whether an autoantibody or antibody against IER3IP1 could matter depends on whether native IER3IP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
IER3IP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label IER3IP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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