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Aliases for IER3IP1 Gene

Aliases for IER3IP1 Gene

  • Immediate Early Response 3 Interacting Protein 1 2 3 5
  • 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 primary microcephaly-epilepsy-permanent neonatal diabetes syndrome. An important paralog of this gene is ENSG00000267228.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IER3IP1 Gene

Genomics for IER3IP1 Gene

Regulatory Elements for IER3IP1 Gene

Promoters for IER3IP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around IER3IP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for IER3IP1 Gene

Chromosome:
18
Start:
47,152,998 bp from pter
End:
47,176,374 bp from pter
Size:
23,377 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

Proteomics data for IER3IP1 Gene at MOPED

Post-translational modifications for IER3IP1 Gene

  • Ubiquitination at Lys 29
  • 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

Protein Domains for IER3IP1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for IER3IP1 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for IER3IP1 Gene

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).
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

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
Jensen Localization Image for IER3IP1 Gene COMPARTMENTS Subcellular localization image for IER3IP1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
extracellular 3
plasma membrane 2
cytoskeleton 1
cytosol 1
lysosome 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for IER3IP1 Gene

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

Pathways & Interactions for IER3IP1 Gene

SuperPathways for IER3IP1 Gene

No Data Available

Interacting Proteins for IER3IP1 Gene

Gene Ontology (GO) - Biological Process for IER3IP1 Gene

None

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 :
(7) Additional mRNA sequences :
(521) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for IER3IP1 Gene

Immediate early response 3 interacting protein 1:
Representative Sequences:

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

No ASD Table

Relevant External Links for IER3IP1 Gene

GeneLoc Exon Structure for
IER3IP1
ECgene alternative splicing isoforms for
IER3IP1

Expression for IER3IP1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for IER3IP1 Gene



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.
genes like me logo Genes that share expression patterns with IER3IP1: view

Protein tissue co-expression partners for IER3IP1 Gene

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia IER3IP1 35
  • 92.68 (n)
  • 100 (a)
IER3IP1 36
  • 100 (a)
ManyToMany
IER3IP1 36
  • 100 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia IER3IP1 35
  • 93.09 (n)
  • 97.56 (a)
mouse
(Mus musculus)
Mammalia Ier3ip1 35
  • 91.06 (n)
  • 97.56 (a)
Ier3ip1 16
Ier3ip1 36
  • 98 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia IER3IP1 35
  • 100 (n)
  • 100 (a)
-- 36
  • 100 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 99 (a)
OneToMany
chicken
(Gallus gallus)
Aves IER3IP1 35
  • 76.83 (n)
  • 84.15 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ier3ip1 35
  • 81.3 (n)
  • 90.24 (a)
Str.1912 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.10898 35
zebrafish
(Danio rerio)
Actinopterygii ier3ip1 35
  • 73.98 (n)
  • 78.05 (a)
ier3ip1 36
  • 78 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9697 35
fruit fly
(Drosophila melanogaster)
Insecta CG32069 36
  • 54 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea W09G3.8 36
  • 50 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YOS1 36
  • 42 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2437 35
Species with no ortholog for IER3IP1:
  • 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)

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 from dbSNP and Humsavar for IER3IP1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
VAR_066569 Microcephaly, epilepsy, and diabetes syndrome (MEDS)
VAR_066570 Microcephaly, epilepsy, and diabetes syndrome (MEDS)
rs9831 -- 47,155,114(-) TACAA(C/T)ATTTT utr-variant-3-prime
rs14524 -- 47,155,174(+) AAAAC(C/T)GTATT utr-variant-3-prime
rs1212586 -- 47,157,266(-) TAGTT(G/T)GCTTC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv9629 CNV Gain+Loss 18304495
nsv833640 CNV Loss 17160897
nsv909612 CNV Gain 21882294
nsv909613 CNV Loss 21882294

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)

Relevant External Links for IER3IP1 Gene

HapMap Linkage Disequilibrium report
IER3IP1
Human Gene Mutation Database (HGMD)
IER3IP1

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

Disorders for IER3IP1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for IER3IP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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.

Relevant External Links for IER3IP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 W.H. … Waye M.M.Y. (Gene 2004) 2 3 4 23 67
  2. Transcriptional regulation of IER3IP1 gene by tumor necrosis factor-alpha and Sp family proteins. (PMID: 19885854) Yiu W.H. … Waye M.M. (Cell Biochem. Funct. 2010) 3 23
  3. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3
  4. A census of human soluble protein complexes. (PMID: 22939629) Havugimana P.C. … Emili A. (Cell 2012) 3
  5. A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS). (PMID: 22991235) Abdel-Salam G.M. … Gleeson J.G. (Am. J. Med. Genet. A 2012) 3

Products for IER3IP1 Gene

Sources for IER3IP1 Gene

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