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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IER3IP1 Gene

protein-coding   GIFtS: 49
GCID: GC18M044681

immediate early response 3 interacting protein 1

 Explore 1 disease affiliated with
IER3IP1 via our new
 Human Malady Compendium 
Biological research products
for IER3IP1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Immediate Early Response 3 Interacting Protein 11 2
MEDS2
PRO23092
Immediate Early Response 3-Interacting Protein 12

External Ids:    HGNC: 185501   Entrez Gene: 511242   Ensembl: ENSG000001340497   OMIM: 6093825   UniProtKB: Q9Y5U93   

Export aliases for IER3IP1 gene to outside databases

Previous GC identifers: GC18M042935 GC18M041529


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for IER3IP1:
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)

UniProtKB/Swiss-Prot: IR3IP_HUMAN, Q9Y5U9
Function: 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.1  NT_010966.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IER3IP1 gene promoter:
         Pax-2   FOXD1   Pax-2a   E47   GATA-2   Max   FOXC1   Pax-2b   Hand1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIER3IP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for IER3IP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IER3IP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q12   Ensembl cytogenetic band:  18q21.1   HGNC cytogenetic band: 18q12

IER3IP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IER3IP1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M044681:  view genomic region     (about GC identifiers)

Start:
44,681,413 bp from pter      End:
44,702,745 bp from pter
Size:
21,333 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: IR3IP_HUMAN, Q9Y5U9 (See protein sequence)
Recommended Name: Immediate early response 3-interacting protein 1  
Size: 82 amino acids; 8969 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein

Explore the universe of human proteins at neXtProt for IER3IP1: NX_Q9Y5U9

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y5U9

  • IER3IP1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_057181.1  
    ENSEMBL proteins: 
     ENSP00000256433  

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    Uscn Proteins for IER3IP1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005794Golgi apparatus IDA--
    GO:0016021integral to membrane IEA--


    IER3IP1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    IER3IP1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR013880 Yos1

    Graphical View of Domain Structure for InterPro Entry Q9Y5U9

    ProtoNet protein and cluster: Q9Y5U9

    1 Blocks protein family: IPB013880 Yos1-like

    UniProtKB/Swiss-Prot: IR3IP_HUMAN, Q9Y5U9
    Similarity: Belongs to the YOS1 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: IR3IP_HUMAN, Q9Y5U9
    Function: May be implicated in the regulation of apoptosis. May be involved in protein transport between endoplasmic
    reticulum and Golgi apparatus (By similarity)

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    hsa-miR-3607-5p hsa-miR-125a-5p hsa-miR-136 hsa-miR-520d-5p hsa-miR-4251 hsa-miR-301a hsa-miR-519a hsa-miR-29b-1*
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    2 GenomeRNAi human phenotypes for IER3IP1:
     Actin fiber cells  Increased homologous recombina 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for IER3IP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/12 Interacting proteins for IER3IP1 (Q9Y5U92, 3 ENSP000002564334) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSNK2BP678702, 3MINT-8253330 I2D: score=2 
    RGS2P412202, 3MINT-8268801 I2D: score=2 
    TK1P041832, 3MINT-8273554 I2D: score=2 
    ANKRD34AQ69YU33, ENSP000003141034I2D: score=2 STRING: ENSP00000314103
    TRAF6Q9Y4K33I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042981regulation of apoptotic process IMP--


    IER3IP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for IER3IP1
    Search CenterWatch for drugs/clinical trials and news about IER3IP1 / IR3IP 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for IER3IP1 gene: 
    NM_016097.4  

    Unigene Cluster for IER3IP1:

    Immediate early response 3 interacting protein 1
    Hs.130917  [show with all ESTs]
    Unigene Representative Sequence: NM_016097
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000256433(uc002lcu.3)

    miRNA
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    8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate IER3IP1 (see all 26):
    hsa-miR-3607-5p hsa-miR-125a-5p hsa-miR-136 hsa-miR-520d-5p hsa-miR-4251 hsa-miR-301a hsa-miR-519a hsa-miR-29b-1*
    SwitchGear 3'UTR luciferase reporter plasmidIER3IP1 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AF164798.1 AF371963.1 AK027108.1 AL136667.1 BC010888.1 BC017391.1 CR533488.1 

    8 DOTS entries:

    DT.451736  DT.95131567  DT.100818899  DT.99976796  DT.121102368  DT.121102290  DT.121102293  DT.95131563 

    24/521 AceView cDNA sequences (see all 521):

    AW073404 AK090802 AA494459 BM724496 AA257967 AA399264 AL136681 CR596274 
    CA433667 BX339575 BE501762 BQ015347 NM_016097 AA988471 CA941375 AA483500 
    BC033031 AA257968 CB243242 AL539944 BC011894 AA587229 AA910484 CR610751 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    IER3IP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See IER3IP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IER3IP1

    SOURCE GeneReport for Unigene cluster: Hs.130917

    UniProtKB/Swiss-Prot: IR3IP_HUMAN, Q9Y5U9
    Tissue specificity: Highest levels in heart, skeletal muscle, and kidney

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for IER3IP1 gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ier3ip11 , 5 immediate early response 3 interacting protein 11, 5 91.06(n)1
    97.56(a)1
      18 (51.98 cM)5
    661911  NM_025409.31  NP_079685.11 
     769300175 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.108982 Xenopus laevis transcribed sequence with moderate similarity more 80.6(n)    AU244785.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570378272   -- 78.16(n)    57037827 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG320696
    --
    54(a)
    1 → many
    3L(11055231-11055714)
    worm
    (Caenorhabditis elegans)
    Secernentea W09G3.86
    --
    50(a)
    1 → many
    I(13812123-13814343)


    ENSEMBL Gene Tree for IER3IP1 (if available)
    TreeFam Gene Tree for IER3IP1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for IER3IP1 gene
    ENSG000002672282  

    IER3IP1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for IER3IP1
    PGOHUM00000239581 PGOHUM00000243166


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/370 NCBI SNPs in IER3IP1 are shown (see all 370    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs739542421,2
    C,--41529178(+) GCCTAC/TAGTCC 1 -- ds50011Minor allele frequency- T:0.50WA 2
    rs98311,2
    C,F,O,H,--41529547(-) TACAAT/CATTTT 1 -- ut31 ese318Minor allele frequency- C:0.03MN NA NS EA 2203
    rs145241,2
    C,--41529607(+) AAAACT/CGTATT 1 -- ut312Minor allele frequency- C:0.01MN WA 186
    rs30877691,2
    C,H--41530579(-) AGAAGA/GGGACA 1 -- ut31 ese37Minor allele frequency- G:0.01MN NS EA NA 604
    rs123262211,2
    C,F,H,--41530955(+) NNNNTG/TGAGCC 1 -- int16Minor allele frequency- T:0.08NS EA NA 582
    rs1124838601,2
    --41532251(+) TAACTA/GTTTTT 1 -- int12Minor allele frequency- G:0.33CSA 3
    rs795276651,2
    --41534155(+) GCTTTA/TTTTTT 1 -- int10--------
    rs729072901,2
    C,F,--41534199(+) TTCACG/TTTCAT 1 -- int11Minor allele frequency- T:0.03NA 120
    rs761185431,2
    C,--41535827(+) CTCTTG/ACAAGA 1 -- int12Minor allele frequency- A:0.16NA 122
    rs1125201501,2
    --41536146(+) TATTTA/CTATTA 1 -- int11Minor allele frequency- C:0.00CSA 1

    HapMap Linkage Disequilibrium report for IER3IP1 (44681413 - 44702745 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for IER3IP1
         1 CNV: 5055
    Human Gene Mutation Database (HGMD): IER3IP1

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    IER3IP1 for disorders           About GeneDecksing

    OMIM gene information: 609382    OMIM disorders: --

    UniProtKB/Swiss-Prot: IR3IP_HUMAN, Q9Y5U9
  • Defects in IER3IP1 are the cause of microcephaly epilepsy and diabetes syndrome (MEDS) [MIM:614231]. An
  • autosomal recessive disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile
    diabetes

    1 disease for IER3IP1:    About MalaCards
    microcephaly

    1 disease from the University of Copenhagen DISEASES database for IER3IP1:
    Microcephaly

    Export disorders for IER3IP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for IER3IP1 gene, integrated from 9 sources (see all 21):
    (articles sorted by number of sources associating them with IER3IP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a novel endoplasmic reticulum localized G-patch domain protein, IER3IP1. (PubMed id 15276200)1, 2, 3, 9 Yiu W.H.... Waye M.M.Y. (2004)
    2. Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors. (PubMed id 21835305)1, 2 Poulton C.J....Mancini G.M. (2011)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    5. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (2000)
    6. 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)1, 2 Zhang Q.-H.... Chen Z. (2000)
    7. Transcriptional regulation of IER3IP1 gene by tumor n ecrosis factor-alpha and Sp family proteins. (PubMed id 19885854)1, 9 Yiu W.H....Waye M.M. (2010)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    10. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51124 HGNC: 18550 AceView: IER3IP1andHDHD2 Ensembl:ENSG00000134049 euGenes: HUgn51124
    ECgene: IER3IP1 H-InvDB: IER3IP1

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for IER3IP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for IER3IP1 gene:
    Search GeneIP for patents involving IER3IP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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