IER3IP1 immediate early response 3 interacting protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IER3IP1provided by HGNC
Official Full Name: immediate early response 3 interacting protein 1provided by HGNC
Primary source: HGNC:HGNC:18550
See related: Ensembl:ENSG00000134049 MIM:609382; AllianceGenome:HGNC:18550
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MEDS; HSPC039; PRO2309
Summary: 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]
Expression: Ubiquitous expression in kidney (RPKM 41.1), thyroid (RPKM 27.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18q21.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (47152834..47176364, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (47343146..47366670, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (44679205..44702735, complement)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Essential requirement for IER3IP1 in B cell development.
Title: Essential requirement for IER3IP1 in B cell development.
A human tissue screen identifies a regulator of ER secretion as a brain-size determinant.
Title: A human tissue screen identifies a regulator of ER secretion as a brain-size determinant.
233 T > C mutation in the IER3IP1 causes microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome.
Title: Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature.
We expand the phenotypic spectrum of MEDS caused by IER3IP1 gene mutations and propose that WRS and MEDS are overlapping clinical syndromes, displaying significant gene-dependent clinical variability.
Title: A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).
Inhibiting the expression of IER3IP1 can inhibit erythroid differentiation and elevate the proliferation of K562 cells.
Title: [Effect of IER3IP1 gene expression on the proliferation and erythroid differentiation of K562 cells].
IER3IP1 gene expression is regulated by Sp1, Sp3, and the TNF-a; induction of the gene in HepG2 liver cancer cell line
Title: Transcriptional regulation of IER3IP1 gene by tumor necrosis factor-alpha and Sp family proteins.
Matrine can inhibit the growth of K562 cells, and transiently increase the expression level of IER3IP1 gene in a dose-dependent manner.
Title: [The expression of IER3IP1 gene in K562 cells treated by matrine and its effect on the cell growth].
IER3IP1 gene was mapped to chromosome 18q12 and showed a high expression in heart, skeletal muscle and kidney, a moderate expression in liver and brain and a low expression in placenta, lung and peripheral blood leukocyte.
Title: Cloning and characterization of a novel endoplasmic reticulum localized G-patch domain protein, IER3IP1.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Microcephaly, epilepsy, and diabetes syndrome 1 MedGen: CN305347 OMIM: 614231 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G32506 (e-PCR)
- UniSTS:117091

A009F19 (e-PCR)
- UniSTS:43691

RH36100 (e-PCR)
- UniSTS:4804

RH15973 (e-PCR)
- UniSTS:14823

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in brain development	IDA Inferred from Direct Assay more info	PubMed
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in organ growth	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of extracellular matrix constituent secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of fibroblast apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in COPII-coated ER to Golgi transport vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info	PubMed
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: immediate early response 3-interacting protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.