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

Gene ID: 51124, updated on 7-Jun-2020

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

Genomic context

See IER3IP1 in Genome Data Viewer
Location:
18q21.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (47152834..47176364, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (44681390..44702745, 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

Process Evidence Code Pubs
ER to Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of fibroblast apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
COPII-coated ER to Golgi transport vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane HDA PubMed 

General protein information

Preferred Names
immediate early response 3-interacting protein 1

NCBI Reference Sequences (RefSeq)

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.

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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