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Aliases for IER3IP1 Gene

Aliases for IER3IP1 Gene

  • Immediate Early Response 3 Interacting Protein 1 2 3
  • MEDS 3 6
  • Immediate Early Response 3-Interacting Protein 1 3
  • HSPC039 3
  • PRO2309 3

External Ids for IER3IP1 Gene

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.

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

Genomic Location for IER3IP1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IER3IP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IER3IP1 Gene

Regulatory Elements 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
    Secondary Accessions:

    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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys29

Other Protein References for IER3IP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for IER3IP1 Gene

Domains for IER3IP1 Gene

Protein Domains for IER3IP1 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

IR3IP_HUMAN
Family:
  • Belongs to the YOS1 family.:
    • Q9Y5U9
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).

Phenotypes for IER3IP1 Gene

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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targeting 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 4
extracellular 3
plasma membrane 2
cytoskeleton 1
cytosol 1
lysosome 1

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 IEA --
GO:0005794 Golgi apparatus IDA --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with IER3IP1: view

Pathways for IER3IP1 Gene

SuperPathways for IER3IP1 Gene

No Data Available

Interacting Proteins for IER3IP1 Gene

Gene Ontology (GO) - Biological Process for IER3IP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 for IER3IP1 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with IER3IP1: view

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 -- 37
  • 100 (a)
OneToMany
IER3IP1 36
  • 100 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia IER3IP1 36
  • 92.68 (n)
  • 100 (a)
IER3IP1 37
  • 100 (a)
ManyToMany
IER3IP1 37
  • 100 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia IER3IP1 36
  • 93.09 (n)
  • 97.56 (a)
mouse
(Mus musculus)
Mammalia Ier3ip1 36
  • 91.06 (n)
  • 97.56 (a)
Ier3ip1 16
Ier3ip1 37
  • 98 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 99 (a)
OneToMany
chicken
(Gallus gallus)
Aves IER3IP1 36
  • 76.83 (n)
  • 84.15 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.10898 36
tropical clawed frog
(Silurana tropicalis)
Amphibia ier3ip1 36
  • 81.3 (n)
  • 90.24 (a)
Str.1912 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9697 36
zebrafish
(Danio rerio)
Actinopterygii ier3ip1 36
  • 73.98 (n)
  • 78.05 (a)
ier3ip1 37
  • 78 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG32069 37
  • 54 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea W09G3.8 37
  • 50 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YOS1 37
  • 42 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2437 36
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

Pseudogenes.org Pseudogenes for IER3IP1 Gene

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

No data available for Paralogs for IER3IP1 Gene

Variants for IER3IP1 Gene

Sequence variations from dbSNP and Humsavar for IER3IP1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
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
rs1213191 -- 47,164,922(-) TTTTT(C/T)TATTC intron-variant
rs2251948 -- 47,154,985(-) CTCCA(A/T)TTTGG downstream-variant-500B

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

Relevant External Links for IER3IP1 Gene

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

Disorders for IER3IP1 Gene

(1) OMIM Diseases for IER3IP1 Gene (609382)

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.

(1) University of Copenhagen DISEASES for IER3IP1 Gene

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

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
  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. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PMID: 10931946) Hu R.-M. … Chen J.-L. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4
  4. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang Q.-H. … Chen Z. (Genome Res. 2000) 3 4
  5. Towards 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 Res. 2001) 3 4

Products for IER3IP1 Gene

Sources for IER3IP1 Gene

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