IER3IP1 (immediate early response 3 interacting protein 1)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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51124 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Immediate early response 3 interacting protein 1 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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IER3IP1 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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HSPC039, MEDS, PRO2309 |
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Chromosome
Chromosome number
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18 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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18q21.1 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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 |
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SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | |||||||||||
| UniProt ID | Q9Y5U9 | ||||||||||
| Protein name | Immediate early response 3-interacting protein 1 | ||||||||||
| Protein function | Regulator of endoplasmic reticulum secretion that acts as a key determinant of brain size (PubMed:33122427). Required for secretion of extracellular matrix proteins (PubMed:33122427). Required for correct brain development by depositing sufficie | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Highest levels in heart, skeletal muscle, and kidney. {ECO:0000269|PubMed:15276200}. | ||||||||||
| Sequence |
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| Sequence length | 82 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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