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Q9Y5U9

- IR3IP_HUMAN

UniProt

Q9Y5U9 - IR3IP_HUMAN

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
  1. 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

    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

    GO - Cellular componenti

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

    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...

    Transmembrane

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

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the YOS1 family.Sequence Analysis

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG329574.
    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

    MAFTLYSLLQ AALLCVNAIA VLHEERFLKN IGWGTDQGIG GFGEEPGIKS   50
    QLMNLIRSVR TVMRVPLIIV NSIAIVLLLL FG 82
    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:
    EMBL
    GenBank
    DDBJ
    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.3. human.

    Polymorphism databases

    DMDMi74735295.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    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.
    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

    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: October 1, 2014
    This is version 107 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