U.S. flag

An official website of the United States government

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

Gene ID: 51124, updated on 4-Jan-2025

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; AllianceGenome:HGNC:18550
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
Try the new Gene table
Try the new Transcript table

Genomic context

See IER3IP1 in Genome Data Viewer
Location:
18q21.1
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (47152834..47176364, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (47343146..47366670, complement)
RS_2024_09 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 ReSE screen-validated silencer GRCh37_chr18:44626710-44626922 Neighboring gene small ubiquitin-related modifier 2-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44665671-44666170 Neighboring gene haloacid dehalogenase like hydrolase domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13286 Neighboring gene Sharpr-MPRA regulatory region 3693 Neighboring gene SKI family transcriptional corepressor 2 Neighboring gene RNA, U6 small nuclear 1131, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44777899-44778415 Neighboring gene uncharacterized LOC124904295

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Microcephaly, epilepsy, and diabetes syndrome 1
MedGen: CN305347 OMIM: 614231 GeneReviews: Not available
Compare labs

Interactions

General gene information

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in COPII-coated ER to Golgi transport vesicle  
located_in Golgi apparatus  
is_active_in Golgi membrane  
located_in endoplasmic reticulum  
is_active_in endoplasmic reticulum membrane  
located_in endoplasmic reticulum membrane PubMed 
located_in endoplasmic reticulum membrane PubMed 
located_in membrane 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

    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    47343146..47366670 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
External link. Please review our privacy policy.