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),... See more...

Aliases for IER3IP1 Gene

Aliases for IER3IP1 Gene

  • Immediate Early Response 3 Interacting Protein 1 2 3 5
  • Immediate Early Response 3-Interacting Protein 1 3 4
  • HSPC039 3
  • PRO2309 3
  • MEDS 3

External Ids for IER3IP1 Gene

Previous GeneCards Identifiers for IER3IP1 Gene

  • GC18M042935
  • GC18M044681
  • GC18M041529

Summaries for IER3IP1 Gene

Entrez Gene Summary for IER3IP1 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]

GeneCards Summary for IER3IP1 Gene

IER3IP1 (Immediate Early Response 3 Interacting Protein 1) is a Protein Coding gene. Diseases associated with IER3IP1 include Microcephaly, Epilepsy, And Diabetes Syndrome and Microcephaly With Simplified Gyral Pattern. An important paralog of this gene is ENSG00000267228.

UniProtKB/Swiss-Prot Summary for IER3IP1 Gene

  • May be implicated in the regulation of apoptosis. May be involved in protein transport between endoplasmic reticulum and Golgi apparatus (By similarity).

Gene Wiki entry for IER3IP1 Gene

Additional gene information for IER3IP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IER3IP1 Gene

Genomics for IER3IP1 Gene

GeneHancer (GH) Regulatory Elements for IER3IP1 Gene

Promoters and enhancers for IER3IP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J047174 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 517.5 +0.7 674 2.6 EP300 POLR2G NCOR1 PHF8 ZFX ZNF10 REST POLR2A ZBTB10 ZBTB26 IER3IP1 ENSG00000267228 piR-31292-077 HDHD2 KATNAL2 RF00017-2668
GH18J047149 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.4 +26.3 26262 3.4 ZBTB40 ZNF217 EP300 NRF1 POLR2G PHF8 PHB2 ZFX POLR2A ZBTB11 HDHD2 lnc-IER3IP1-1 lnc-KATNAL2-13 IER3IP1 KATNAL2 RF00876-008 ENSG00000267228
GH18J046946 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 8.7 +229.5 229475 1.4 ZNF217 EP300 NRF1 SP1 FOS SAP30 RFX1 NFYB HDAC2 MXI1 KATNAL2 HAUS1 EPG5 IER3IP1 HDHD2 hsa-miR-5095-245 piR-33432-255
GH18J046916 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 7.8 +259.3 259273 3.8 HNRNPK ZBTB40 EP300 SIN3A POLR2G USF1 GTF2E2 PHF8 ZFX POLR2A KATNAL2 ENSG00000279354 PIAS2 lnc-ELOA3D-2 IER3IP1 HDHD2 ENSG00000270112
GH18J047251 Promoter/Enhancer 1.1 EPDnew Ensembl 12.2 -75.4 -75420 0.7 RBAK JUND ZNF639 ZBTB5 ZIC2 ZBTB26 ATF2 EZH2 CREB1 ZBTB17 SKOR2 IER3IP1 SMAD2 HDHD2 MIR4527HG lnc-SKOR2-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IER3IP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IER3IP1

Top Transcription factor binding sites by QIAGEN in the IER3IP1 gene promoter:
  • c-Myc
  • E47
  • FOXC1
  • FOXD1
  • GATA-2
  • Hand1
  • Max
  • Pax-2
  • Pax-2a
  • Pax-2b

Genomic Locations for IER3IP1 Gene

Genomic Locations for IER3IP1 Gene
chr18:47,152,834-47,176,374
(GRCh38/hg38)
Size:
23,541 bases
Orientation:
Minus strand
chr18:44,681,413-44,702,745
(GRCh37/hg19)
Size:
21,333 bases
Orientation:
Minus strand

Genomic View for IER3IP1 Gene

Genes around IER3IP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IER3IP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IER3IP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IER3IP1 Gene

Proteins for IER3IP1 Gene

  • Protein details for IER3IP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5U9-IR3IP_HUMAN
    Recommended name:
    Immediate early response 3-interacting protein 1
    Protein Accession:
    Q9Y5U9

    Protein attributes for IER3IP1 Gene

    Size:
    82 amino acids
    Molecular mass:
    8969 Da
    Quaternary structure:
    No Data Available

neXtProt entry for IER3IP1 Gene

Post-translational modifications for IER3IP1 Gene

  • Ubiquitination at Lys29
  • Modification sites at PhosphoSitePlus

Other Protein References for IER3IP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for IER3IP1 Gene

Domains & Families for IER3IP1 Gene

Gene Families for IER3IP1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for IER3IP1 Gene

Blocks:
  • Yos1-like
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IER3IP1 Gene

GenScript: Design optimal peptide antigens:
  • Immediate early response 3-interacting protein 1 (IR3IP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y5U9

UniProtKB/Swiss-Prot:

IR3IP_HUMAN :
  • Belongs to the YOS1 family.
Family:
  • Belongs to the YOS1 family.
genes like me logo Genes that share domains with IER3IP1: view

Function for IER3IP1 Gene

Molecular function for IER3IP1 Gene

UniProtKB/Swiss-Prot Function:
May be implicated in the regulation of apoptosis. May be involved in protein transport between endoplasmic reticulum and Golgi apparatus (By similarity).

Phenotypes From GWAS Catalog for IER3IP1 Gene

genes like me logo Genes that share phenotypes with IER3IP1: view

Human Phenotype Ontology for IER3IP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for IER3IP1 Gene

Localization for IER3IP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IER3IP1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IER3IP1 gene
Compartment Confidence
endoplasmic reticulum 4
golgi apparatus 4
extracellular 3
plasma membrane 2
cytoskeleton 2
nucleus 2
cytosol 2
mitochondrion 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IER3IP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane IBA 21873635
GO:0005794 Golgi apparatus IDA --
GO:0016020 membrane HDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with IER3IP1: view

Pathways & Interactions for IER3IP1 Gene

PathCards logo

SuperPathways for IER3IP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for IER3IP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006888 ER to Golgi vesicle-mediated transport IBA 21873635
GO:2000269 regulation of fibroblast apoptotic process IMP 21835305
genes like me logo Genes that share ontologies with IER3IP1: view

No data available for Pathways by source and SIGNOR curated interactions for IER3IP1 Gene

Drugs & Compounds for IER3IP1 Gene

No Compound Related Data Available

Transcripts for IER3IP1 Gene

mRNA/cDNA for IER3IP1 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IER3IP1 Gene

No ASD Table

Relevant External Links for IER3IP1 Gene

GeneLoc Exon Structure for
IER3IP1

Expression for IER3IP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IER3IP1 Gene

Protein differential expression in normal tissues from HIPED for IER3IP1 Gene

This gene is overexpressed in Nasal epithelium (53.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IER3IP1 Gene



Protein tissue co-expression partners for IER3IP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IER3IP1

SOURCE GeneReport for Unigene cluster for IER3IP1 Gene:

Hs.130917

mRNA Expression by UniProt/SwissProt for IER3IP1 Gene:

Q9Y5U9-IR3IP_HUMAN
Tissue specificity: Highest levels in heart, skeletal muscle, and kidney.

Evidence on tissue expression from TISSUES for IER3IP1 Gene

  • Nervous system(4.8)
  • Skin(2.9)
  • Heart(2.2)
  • Lung(2.1)
  • Muscle(2.1)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IER3IP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • skull
Thorax:
  • heart
Abdomen:
  • kidney
  • pancreas
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with IER3IP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for IER3IP1 Gene

Orthologs for IER3IP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for IER3IP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 31
  • 100 (a)
OneToMany
IER3IP1 30
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 99 (a)
OneToMany
dog
(Canis familiaris)
Mammalia IER3IP1 30
  • 93.09 (n)
cow
(Bos Taurus)
Mammalia IER3IP1 31 31 30
  • 92.68 (n)
ManyToMany
mouse
(Mus musculus)
Mammalia Ier3ip1 17 31 30
  • 91.06 (n)
chicken
(Gallus gallus)
Aves IER3IP1 30
  • 76.83 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia ier3ip1 30
  • 81.3 (n)
Str.1912 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.10898 30
zebrafish
(Danio rerio)
Actinopterygii ier3ip1 31 30
  • 73.98 (n)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9697 30
fruit fly
(Drosophila melanogaster)
Insecta CG32069 31
  • 54 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea W09G3.8 31
  • 50 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YOS1 31
  • 42 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea Cin.2437 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2437 30
Species where no ortholog for IER3IP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for IER3IP1 Gene

ENSEMBL:
Gene Tree for IER3IP1 (if available)
TreeFam:
Gene Tree for IER3IP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IER3IP1: view image

Paralogs for IER3IP1 Gene

Paralogs for IER3IP1 Gene

Pseudogenes.org Pseudogenes for IER3IP1 Gene

genes like me logo Genes that share paralogs with IER3IP1: view

Variants for IER3IP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IER3IP1 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
655282 Uncertain Significance: Microcephaly, epilepsy, and diabetes syndrome 47,156,187(-) A/C NONSENSE
656356 Uncertain Significance: Microcephaly, epilepsy, and diabetes syndrome 47,176,276(-) A/T INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT
668869 Benign: not provided 47,156,520(-) C/T INTRON_VARIANT
670552 Benign: not provided 47,157,223(-) A/C INTRON_VARIANT
673716 Benign: not provided 47,156,522(-) G/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for IER3IP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for IER3IP1 Gene

Variant ID Type Subtype PubMed ID
esv3416044 CNV insertion 20981092
esv3642451 CNV gain 21293372
esv3642452 CNV gain 21293372
nsv833640 CNV loss 17160897
nsv9629 CNV gain+loss 18304495

Variation tolerance for IER3IP1 Gene

Residual Variation Intolerance Score: 48% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.72; 15.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IER3IP1 Gene

Human Gene Mutation Database (HGMD)
IER3IP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IER3IP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IER3IP1 Gene

Disorders for IER3IP1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for IER3IP1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microcephaly, epilepsy, and diabetes syndrome
  • meds
microcephaly with simplified gyral pattern
microcephaly
  • microcephalus
epilepsy
  • epilepsy syndrome
phototoxic dermatitis
  • photosensitisation reaction
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

IR3IP_HUMAN
  • Microcephaly, epilepsy, and diabetes syndrome (MEDS) [MIM:614231]: An autosomal recessive disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes. {ECO:0000269 PubMed:21835305}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for IER3IP1

genes like me logo Genes that share disorders with IER3IP1: view

No data available for Genatlas for IER3IP1 Gene

Publications for IER3IP1 Gene

  1. Cloning and characterization of a novel endoplasmic reticulum localized G-patch domain protein, IER3IP1. (PMID: 15276200) Yiu WH … Waye MM (Gene 2004) 2 3 4 23 54
  2. Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors. (PMID: 21835305) Poulton CJ … Mancini GM (American journal of human genetics 2011) 3 4 54
  3. Transcriptional regulation of IER3IP1 gene by tumor necrosis factor-alpha and Sp family proteins. (PMID: 19885854) Yiu WH … Waye MM (Cell biochemistry and function 2010) 3 23 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4 54

Products for IER3IP1 Gene

Sources for IER3IP1 Gene