Details for: IER3IP1

Gene ID: 51124

Symbol: IER3IP1

Ensembl ID: ENSG00000134049

Description: immediate early response 3 interacting protein 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 99.7700
    Cell Significance Index: -41.1000
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 88.8858
    Cell Significance Index: -41.9700
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 80.1345
    Cell Significance Index: -41.2200
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 62.8444
    Cell Significance Index: -42.1700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 10.5997
    Cell Significance Index: -28.4000
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 3.7530
    Cell Significance Index: 29.9700
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 2.3467
    Cell Significance Index: 21.6100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.5318
    Cell Significance Index: 43.9100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.4334
    Cell Significance Index: 258.4000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.4153
    Cell Significance Index: 174.0300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.3602
    Cell Significance Index: 186.8000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.2927
    Cell Significance Index: 60.2700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.2697
    Cell Significance Index: 94.6300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.2293
    Cell Significance Index: 33.4600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.2190
    Cell Significance Index: 665.7200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 1.1392
    Cell Significance Index: 39.5900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 1.0858
    Cell Significance Index: 29.0500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.0746
    Cell Significance Index: 31.5600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.0737
    Cell Significance Index: 67.6700
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 1.0050
    Cell Significance Index: 6.1900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.9860
    Cell Significance Index: 46.3400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.8685
    Cell Significance Index: 85.9100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.8681
    Cell Significance Index: 18.1700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.8322
    Cell Significance Index: 367.9200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.7997
    Cell Significance Index: 41.5400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.7495
    Cell Significance Index: 39.3500
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.7491
    Cell Significance Index: 8.5100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.7254
    Cell Significance Index: 51.3000
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.6917
    Cell Significance Index: 15.9800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.6886
    Cell Significance Index: 88.2700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.6772
    Cell Significance Index: 87.4900
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.5560
    Cell Significance Index: 4.6700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5078
    Cell Significance Index: 82.5900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4767
    Cell Significance Index: 95.6200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3706
    Cell Significance Index: 8.0300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3496
    Cell Significance Index: 66.5400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.2705
    Cell Significance Index: 31.9000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2411
    Cell Significance Index: 41.1700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1886
    Cell Significance Index: 67.6700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1795
    Cell Significance Index: 11.5800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1776
    Cell Significance Index: 160.3400
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.1666
    Cell Significance Index: 8.4200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.1386
    Cell Significance Index: 2.3200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1080
    Cell Significance Index: 2.7000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.1048
    Cell Significance Index: 79.3200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0108
    Cell Significance Index: 0.2800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0075
    Cell Significance Index: 0.2200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0064
    Cell Significance Index: 0.1700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0014
    Cell Significance Index: 1.0300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0030
    Cell Significance Index: -1.8800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0063
    Cell Significance Index: -4.6600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0218
    Cell Significance Index: -41.0800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0268
    Cell Significance Index: -49.3600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0306
    Cell Significance Index: -17.2700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0315
    Cell Significance Index: -3.6000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0316
    Cell Significance Index: -1.7800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0321
    Cell Significance Index: -49.3600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0364
    Cell Significance Index: -49.4400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0370
    Cell Significance Index: -4.2400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0391
    Cell Significance Index: -8.2500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0504
    Cell Significance Index: -5.1500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0604
    Cell Significance Index: -38.3900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0634
    Cell Significance Index: -2.0300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0937
    Cell Significance Index: -42.5200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1439
    Cell Significance Index: -16.7700
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.1751
    Cell Significance Index: -3.1000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.1856
    Cell Significance Index: -36.8300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1878
    Cell Significance Index: -6.6000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2114
    Cell Significance Index: -16.2300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2827
    Cell Significance Index: -41.0900
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: -0.2902
    Cell Significance Index: -3.3600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3043
    Cell Significance Index: -18.7100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.3169
    Cell Significance Index: -6.7500
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: -0.3541
    Cell Significance Index: -2.2000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.3584
    Cell Significance Index: -4.8900
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3687
    Cell Significance Index: -9.4200
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.3801
    Cell Significance Index: -3.9400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3918
    Cell Significance Index: -31.0300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3958
    Cell Significance Index: -41.2100
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.4228
    Cell Significance Index: -17.3300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.4366
    Cell Significance Index: -12.8600
  • Cell Name: theca cell (CL0000503)
    Fold Change: -0.4408
    Cell Significance Index: -2.5900
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.4572
    Cell Significance Index: -4.9700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4874
    Cell Significance Index: -29.8900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.5768
    Cell Significance Index: -16.1200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.5913
    Cell Significance Index: -26.8000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.6127
    Cell Significance Index: -41.2000
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.6389
    Cell Significance Index: -3.8600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.6759
    Cell Significance Index: -29.9000
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.7408
    Cell Significance Index: -11.1000
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.7590
    Cell Significance Index: -5.8500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.7986
    Cell Significance Index: -30.2400
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.8194
    Cell Significance Index: -15.1500
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.8392
    Cell Significance Index: -30.8100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.8555
    Cell Significance Index: -29.9700
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.8669
    Cell Significance Index: -14.5800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.8910
    Cell Significance Index: -29.1700
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.8962
    Cell Significance Index: -15.4500
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: -0.9026
    Cell Significance Index: -9.5900
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: -0.9197
    Cell Significance Index: -10.3900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** IER3IP1 is a member of the immediate early response (IER) family of proteins, which are known for their rapid induction in response to various stimuli. The IER3IP1 protein is characterized by its ability to interact with multiple partners, including proteins involved in endoplasmic reticulum (ER) to Golgi transport, protein secretion, and extracellular matrix constituent secretion. Its expression is not limited to specific cell types, as it is observed in embryonic stem cells, immune cells, and epithelial cells, including those in the gut and urothelium. **Pathways and Functions:** IER3IP1 is involved in several cellular pathways, including: 1. **Endoplasmic Reticulum to Golgi Transport Vesicle-mediated Transport:** IER3IP1 interacts with proteins involved in the transport of vesicles between the ER and Golgi apparatus, facilitating the secretion of proteins and extracellular matrix constituents. 2. **Protein Secretion:** IER3IP1 plays a crucial role in the regulation of protein secretion, including the secretion of proteins involved in immune responses and the regulation of fibroblast apoptosis. 3. **Regulation of Extracellular Matrix Constituent Secretion:** IER3IP1 is involved in the regulation of the secretion of extracellular matrix constituents, which is essential for tissue development and remodeling. 4. **Brain Development:** IER3IP1 is expressed in the developing brain and plays a crucial role in the regulation of neural development and function. **Clinical Significance:** The dysregulation of IER3IP1 has been implicated in various immunological diseases, including: 1. **Autoimmune Disorders:** IER3IP1 has been shown to play a role in the regulation of immune responses and the development of autoimmune disorders, such as rheumatoid arthritis and multiple sclerosis. 2. **Cancer:** IER3IP1 has been implicated in the regulation of protein secretion and the development of cancer, including the secretion of proteins involved in tumor growth and metastasis. 3. **Neurological Disorders:** IER3IP1 has been shown to play a role in the regulation of neural development and function, and its dysregulation has been implicated in neurological disorders, such as Alzheimer's disease and Parkinson's disease. In conclusion, IER3IP1 is a multifunctional protein that plays a crucial role in various cellular processes, including brain development, endoplasmic reticulum-mediated transport, and protein secretion. Its dysregulation has been implicated in various immunological diseases, highlighting the importance of further research into the mechanisms of IER3IP1 and its role in human disease.

Genular Protein ID: 3473738547

Symbol: IR3IP_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9Y5U9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 Ensembl 1 ExpressionAtlas 1 GO 13 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 1 SMR 1 STRING 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 15276200

Title: Cloning and characterization of a novel endoplasmic reticulum localized G-patch domain protein, IER3IP1.

PubMed ID: 15276200

DOI: 10.1016/j.gene.2004.04.033

PubMed ID: 11042152

Title: Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.

PubMed ID: 11042152

DOI: 10.1101/gr.140200

PubMed ID: 10931946

Title: Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning.

PubMed ID: 10931946

DOI: 10.1073/pnas.160270997

PubMed ID: 11230166

Title: Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.

PubMed ID: 11230166

DOI: 10.1101/gr.gr1547r

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 33122427

Title: A human tissue screen identifies a regulator of ER secretion as a brain-size determinant.

PubMed ID: 33122427

DOI: 10.1126/science.abb5390

PubMed ID: 21835305

Title: Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors.

PubMed ID: 21835305

DOI: 10.1016/j.ajhg.2011.07.006

PubMed ID: 22991235

Title: A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).

PubMed ID: 22991235

DOI: 10.1002/ajmg.a.35583

PubMed ID: 24138066

Title: Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.

PubMed ID: 24138066

DOI: 10.1111/pedi.12086

Sequence Information:

  • Length: 82
  • Mass: 8969
  • Checksum: 2015B211F0AFF580
  • Sequence:
    • MAFTLYSLLQ AALLCVNAIA VLHEERFLKN IGWGTDQGIG GFGEEPGIKS QLMNLIRSVR 
TVMRVPLIIV NSIAIVLLLL FG

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.