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

Gene ID: 51124, updated on 26-May-2016
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 Ensembl:ENSG00000267228 HPRD:13727; 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]
Orthologs
Location:
18q12
Exon count:
3
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 18 NC_000018.10 (47155019..47176374, 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 haloacid dehalogenase like hydrolase domain containing 2 Neighboring gene SKI family transcriptional corepressor 2 Neighboring gene microRNA 4527

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
regulation of fibroblast apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
immediate early response 3-interacting protein 1
Names
IER3IP1

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_016097.4NP_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, AF164798, BM829309
    Consensus CDS
    CCDS11933.1
    UniProtKB/Swiss-Prot
    Q9Y5U9
    Related
    ENSP00000256433, OTTHUMP00000163487, ENST00000256433, OTTHUMT00000255901
    Conserved Domains (1) summary
    pfam08571
    Location:582
    Yos1; Yos1-like

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p2 Primary Assembly

    Range
    47155019..47176374 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018929.2 Alternate CHM1_1.1

    Range
    44676575..44697926 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)