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    IER3IP1 immediate early response 3 interacting protein 1 [ Homo sapiens (human) ]

    Gene ID: 51124, updated on 11-Jun-2021

    Summary

    Official Symbol
    IER3IP1provided by HGNC
    Official Full Name
    immediate early response 3 interacting protein 1provided by HGNC
    Primary source
    HGNC:HGNC:18550
    See related
    Ensembl:ENSG00000134049 MIM:609382
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MEDS; HSPC039; PRO2309
    Summary
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 41.1), thyroid (RPKM 27.9) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See IER3IP1 in Genome Data Viewer
    Location:
    18q21.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (47152834..47176364, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (44679205..44702735, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene katanin catalytic subunit A1 like 2 Neighboring gene uncharacterized LOC105372098 Neighboring gene small ubiquitin-related modifier 2 pseudogene Neighboring gene haloacid dehalogenase like hydrolase domain containing 2 Neighboring gene RNA, U6 small nuclear 1131, pseudogene Neighboring gene SKI family transcriptional corepressor 2 Neighboring gene MIR4527 host gene Neighboring gene microRNA 4527

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in COPII-coated ER to Golgi transport vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in integral component of Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in membrane HDA PubMed 

    General protein information

    Preferred Names
    immediate early response 3-interacting protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_031925.1 RefSeqGene

      Range
      5001..26356
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_016097.5NP_057181.1  immediate early response 3-interacting protein 1 precursor

      See identical proteins and their annotated locations for NP_057181.1

      Status: REVIEWED

      Source sequence(s)
      AA211693, AC051635, AF164798, BM829309
      Consensus CDS
      CCDS11933.1
      UniProtKB/Swiss-Prot
      Q9Y5U9
      Related
      ENSP00000256433.3, ENST00000256433.6
      Conserved Domains (1) summary
      pfam08571
      Location:582
      Yos1; Yos1-like

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

      Range
      47152834..47176364 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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