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Q9Y5U9

- IR3IP_HUMAN

UniProt

Q9Y5U9 - IR3IP_HUMAN

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Protein

Immediate early response 3-interacting protein 1

Gene

IER3IP1

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. regulation of fibroblast apoptotic process Source: UniProtKB
Complete GO annotation...

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
ProteomesiUP000005640: Chromosome 18

Organism-specific databases

HGNCiHGNC:18550. IER3IP1.

Subcellular locationi

Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei2 – 2221HelicalSequence AnalysisAdd
BLAST
Transmembranei62 – 8221HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum Source: LIFEdb
  2. Golgi apparatus Source: HPA
  3. integral component of membrane Source: UniProtKB-KW
  4. membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Microcephaly, epilepsy, and diabetes syndrome (MEDS) [MIM:614231]: An autosomal recessive disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti21 – 211V → G in MEDS. 1 Publication
VAR_066569
Natural varianti78 – 781L → P in MEDS. 1 Publication
VAR_066570

Keywords - Diseasei

Diabetes mellitus, Disease mutation, Epilepsy

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 8282Immediate early response 3-interacting protein 1PRO_0000257961Add
BLAST

Proteomic databases

MaxQBiQ9Y5U9.
PaxDbiQ9Y5U9.
PeptideAtlasiQ9Y5U9.
PRIDEiQ9Y5U9.

PTM databases

PhosphoSiteiQ9Y5U9.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9Y5U9.
CleanExiHS_IER3IP1.
GenevestigatoriQ9Y5U9.

Organism-specific databases

HPAiHPA010027.

Interactioni

Protein-protein interaction databases

BioGridi119311. 7 interactions.
IntActiQ9Y5U9. 5 interactions.
MINTiMINT-5002077.
STRINGi9606.ENSP00000256433.

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

eggNOGiNOG329574.
GeneTreeiENSGT00510000047648.
HOGENOMiHOG000192480.
HOVERGENiHBG081806.
InParanoidiQ9Y5U9.
OMAiQTVMRMP.
PhylomeDBiQ9Y5U9.
TreeFamiTF300263.

Family and domain databases

InterProiIPR013880. Yos1.
[Graphical view]
PANTHERiPTHR15858. PTHR15858. 1 hit.
PfamiPF08571. Yos1. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti21 – 211V → G in MEDS. 1 Publication
VAR_066569
Natural varianti78 – 781L → P in MEDS. 1 Publication
VAR_066570

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.
ENST00000588705; ENSP00000465194; ENSG00000267228.
GeneIDi51124.
KEGGihsa:51124.
UCSCiuc002lcu.3. human.

Polymorphism databases

DMDMi74735295.

Cross-referencesi

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 .
CCDSi CCDS11933.1.
RefSeqi NP_057181.1. NM_016097.4.
UniGenei Hs.130917.

3D structure databases

ProteinModelPortali Q9Y5U9.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119311. 7 interactions.
IntActi Q9Y5U9. 5 interactions.
MINTi MINT-5002077.
STRINGi 9606.ENSP00000256433.

PTM databases

PhosphoSitei Q9Y5U9.

Polymorphism databases

DMDMi 74735295.

Proteomic databases

MaxQBi Q9Y5U9.
PaxDbi Q9Y5U9.
PeptideAtlasi Q9Y5U9.
PRIDEi Q9Y5U9.

Protocols and materials databases

DNASUi 51124.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000256433 ; ENSP00000256433 ; ENSG00000134049 .
ENST00000588705 ; ENSP00000465194 ; ENSG00000267228 .
GeneIDi 51124.
KEGGi hsa:51124.
UCSCi uc002lcu.3. human.

Organism-specific databases

CTDi 51124.
GeneCardsi GC18M044681.
HGNCi HGNC:18550. IER3IP1.
HPAi HPA010027.
MIMi 609382. gene.
614231. phenotype.
neXtProti NX_Q9Y5U9.
Orphaneti 306558. Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome.
PharmGKBi PA134899219.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG329574.
GeneTreei ENSGT00510000047648.
HOGENOMi HOG000192480.
HOVERGENi HBG081806.
InParanoidi Q9Y5U9.
OMAi QTVMRMP.
PhylomeDBi Q9Y5U9.
TreeFami TF300263.

Miscellaneous databases

ChiTaRSi IER3IP1. human.
GeneWikii IER3IP1.
GenomeRNAii 51124.
NextBioi 53917.
PROi Q9Y5U9.
SOURCEi Search...

Gene expression databases

Bgeei Q9Y5U9.
CleanExi HS_IER3IP1.
Genevestigatori Q9Y5U9.

Family and domain databases

InterProi IPR013880. Yos1.
[Graphical view ]
PANTHERi PTHR15858. PTHR15858. 1 hit.
Pfami PF08571. Yos1. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and characterization of a novel endoplasmic reticulum localized G-patch domain protein, IER3IP1."
    Yiu W.H., Poon J.W.M., Tsui S.K.W., Fung K.P., Waye M.M.Y.
    Gene 337:37-44(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    Tissue: LiverImported.
  2. "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
    Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X.
    , Gu J., Chen S.-J., Chen Z.
    Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Umbilical cord bloodImported.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Adrenal glandImported.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  5. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Bone marrowImported and BrainImported.
  7. "Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors."
    Poulton C.J., Schot R., Kia S.K., Jones M., Verheijen F.W., Venselaar H., de Wit M.C., de Graaff E., Bertoli-Avella A.M., Mancini G.M.
    Am. J. Hum. Genet. 89:265-276(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: POSSIBLE FUNCTION, VARIANTS MEDS GLY-21 AND PRO-78.

Entry informationi

Entry nameiIR3IP_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5U9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: November 1, 1999
Last modified: November 26, 2014
This is version 109 of the entry and version 1 of the sequence. [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

External Data

Dasty 3