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Protein

Immediate early response 3-interacting protein 1

Gene

IER3IP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

May be implicated in the regulation of apoptosis. May be involved in protein transport between endoplasmic reticulum and Golgi apparatus (By similarity).By similarity

GO - Biological processi

  • ER to Golgi vesicle-mediated transport Source: GO_Central
  • regulation of fibroblast apoptotic process Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
Immediate early response 3-interacting protein 1
Gene namesi
Name:IER3IP1Imported
ORF Names:HSPC039
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000134049.4.
HGNCiHGNC:18550. IER3IP1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei2 – 22HelicalSequence analysisAdd BLAST21
Transmembranei62 – 82HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Microcephaly, epilepsy, and diabetes syndrome (MEDS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes.
See also OMIM:614231
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06656921V → G in MEDS. 1 PublicationCorresponds to variant dbSNP:rs387907011Ensembl.1
Natural variantiVAR_06657078L → P in MEDS. 1 PublicationCorresponds to variant dbSNP:rs387907012Ensembl.1

Keywords - Diseasei

Diabetes mellitus, Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi51124.
MalaCardsiIER3IP1.
MIMi614231. phenotype.
OpenTargetsiENSG00000134049.
Orphaneti306558. Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome.
PharmGKBiPA134899219.

Polymorphism and mutation databases

BioMutaiIER3IP1.
DMDMi74735295.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002579611 – 82Immediate early response 3-interacting protein 1Add BLAST82

Proteomic databases

EPDiQ9Y5U9.
MaxQBiQ9Y5U9.
PaxDbiQ9Y5U9.
PeptideAtlasiQ9Y5U9.
PRIDEiQ9Y5U9.
TopDownProteomicsiQ9Y5U9.

PTM databases

iPTMnetiQ9Y5U9.
PhosphoSitePlusiQ9Y5U9.

Expressioni

Tissue specificityi

Highest levels in heart, skeletal muscle, and kidney.1 Publication

Gene expression databases

BgeeiENSG00000134049.
CleanExiHS_IER3IP1.
GenevisibleiQ9Y5U9. HS.

Organism-specific databases

HPAiHPA010027.

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi119311. 13 interactors.
IntActiQ9Y5U9. 14 interactors.
MINTiMINT-5002077.
STRINGi9606.ENSP00000465194.

Structurei

3D structure databases

ProteinModelPortaliQ9Y5U9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the YOS1 family.Sequence analysis

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4779. Eukaryota.
ENOG4111WBM. LUCA.
GeneTreeiENSGT00510000047648.
HOGENOMiHOG000192480.
HOVERGENiHBG081806.
InParanoidiQ9Y5U9.
OMAiFLNRIGW.
OrthoDBiEOG091G191B.
PhylomeDBiQ9Y5U9.
TreeFamiTF300263.

Family and domain databases

InterProiView protein in InterPro
IPR013880. Yos1.
PANTHERiPTHR15858. PTHR15858. 1 hit.
PfamiView protein in Pfam
PF08571. Yos1. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9Y5U9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAFTLYSLLQ AALLCVNAIA VLHEERFLKN IGWGTDQGIG GFGEEPGIKS
60 70 80
QLMNLIRSVR TVMRVPLIIV NSIAIVLLLL FG
Length:82
Mass (Da):8,969
Last modified:November 1, 1999 - v1
Checksum:i2015B211F0AFF580
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06656921V → G in MEDS. 1 PublicationCorresponds to variant dbSNP:rs387907011Ensembl.1
Natural variantiVAR_06657078L → P in MEDS. 1 PublicationCorresponds to variant dbSNP:rs387907012Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF371963 mRNA. Translation: AAK53816.1.
AF125100 mRNA. Translation: AAD39917.1.
AF164798 mRNA. Translation: AAF80762.1.
AL136667 mRNA. Translation: CAB66602.1.
CR533488 mRNA. Translation: CAG38519.1.
BC010888 mRNA. Translation: AAH10888.1.
BC017391 mRNA. Translation: AAH17391.1.
CCDSiCCDS11933.1.
RefSeqiNP_057181.1. NM_016097.4.
UniGeneiHs.130917.

Genome annotation databases

EnsembliENST00000256433; ENSP00000256433; ENSG00000134049.
GeneIDi51124.
KEGGihsa:51124.
UCSCiuc002lcu.4. human.

Similar proteinsi

Entry informationi

Entry nameiIR3IP_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5U9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: November 1, 1999
Last modified: September 27, 2017
This is version 133 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families