Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P31483

- TIA1_HUMAN

UniProt

P31483 - TIA1_HUMAN

Protein

Nucleolysin TIA-1 isoform p40

Gene

TIA1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 139 (01 Oct 2014)
      Sequence version 3 (23 Sep 2008)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Involved in alternative pre-RNA splicing and regulation of mRNA translation by binding to AU-rich elements (AREs) located in mRNA 3' untranslated regions (3' UTRs). Possesses nucleolytic activity against cytotoxic lymphocyte target cells. May be involved in apoptosis.

    GO - Molecular functioni

    1. AU-rich element binding Source: Ensembl
    2. nucleotide binding Source: InterPro
    3. poly(A) binding Source: ProtInc
    4. poly(A) RNA binding Source: UniProtKB
    5. protein binding Source: UniProtKB

    GO - Biological processi

    1. apoptotic process Source: ProtInc
    2. negative regulation of cytokine biosynthetic process Source: Ensembl
    3. negative regulation of translation Source: Ensembl
    4. regulation of mRNA splicing, via spliceosome Source: UniProtKB

    Keywords - Biological processi

    Apoptosis

    Keywords - Ligandi

    RNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Nucleolysin TIA-1 isoform p40
    Alternative name(s):
    RNA-binding protein TIA-1
    T-cell-restricted intracellular antigen-1
    Short name:
    TIA-1
    p40-TIA-1
    Gene namesi
    Name:TIA1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:11802. TIA1.

    Subcellular locationi

    Cytoplasmic granule. Nucleus
    Note: Accumulates in cytoplasmic stress granules (SG) following cellular damage.

    GO - Cellular componenti

    1. cytoplasmic stress granule Source: MGI
    2. nuclear stress granule Source: MGI

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Welander distal myopathy (WDM) [MIM:604454]: An autosomal dominant disorder characterized by adult onset of distal muscle weakness predominantly affecting the distal long extensors of the hands, with slow progression to involve all small hand muscles and the lower legs. Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles. Rare homozygous patients showed earlier onset, faster progression, and proximal muscle involvement.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti384 – 3841E → K in WDM; results in a mild increase of stress granule numbers compared to controls. 2 Publications
    VAR_069897

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi604454. phenotype.
    Orphaneti603. Distal myopathy, Welander type.
    PharmGKBiPA36511.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 386386Nucleolysin TIA-1 isoform p40PRO_0000031031Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiP31483.
    PaxDbiP31483.
    PRIDEiP31483.

    PTM databases

    PhosphoSiteiP31483.

    Expressioni

    Gene expression databases

    ArrayExpressiP31483.
    BgeeiP31483.
    CleanExiHS_TIA1.
    GenevestigatoriP31483.

    Interactioni

    Protein-protein interaction databases

    BioGridi112928. 22 interactions.
    IntActiP31483. 23 interactions.
    MINTiMINT-4823992.
    STRINGi9606.ENSP00000401371.

    Structurei

    Secondary structure

    1
    386
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi106 – 1127
    Helixi119 – 1268
    Helixi127 – 1293
    Beta strandi132 – 1398
    Turni141 – 1433
    Beta strandi146 – 15611
    Helixi157 – 16711
    Beta strandi178 – 1825
    Helixi202 – 2065
    Beta strandi215 – 2195
    Helixi227 – 2348
    Turni235 – 2373
    Beta strandi240 – 2467
    Turni247 – 2504
    Beta strandi251 – 2588
    Helixi259 – 26911
    Beta strandi280 – 2834

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2MJNNMR-A105-285[»]
    3BS9X-ray1.95A/B105-186[»]
    ProteinModelPortaliP31483.
    SMRiP31483. Positions 1-290.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP31483.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini7 – 8377RRM 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini106 – 18479RRM 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini214 – 28673RRM 3PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 3 RRM (RNA recognition motif) domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiCOG0724.
    HOGENOMiHOG000206748.
    HOVERGENiHBG105006.
    InParanoidiP31483.
    KOiK13201.
    OMAiXTAGNDP.
    OrthoDBiEOG7XH6QJ.
    PhylomeDBiP31483.
    TreeFamiTF312915.

    Family and domain databases

    Gene3Di3.30.70.330. 3 hits.
    InterProiIPR012677. Nucleotide-bd_a/b_plait.
    IPR000504. RRM_dom.
    [Graphical view]
    PfamiPF00076. RRM_1. 3 hits.
    [Graphical view]
    SMARTiSM00360. RRM. 3 hits.
    [Graphical view]
    PROSITEiPS50102. RRM. 3 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform Long (identifier: P31483-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MEDEMPKTLY VGNLSRDVTE ALILQLFSQI GPCKNCKMIM DTAGNDPYCF    50
    VEFHEHRHAA AALAAMNGRK IMGKEVKVNW ATTPSSQKKD TSSSTVVSTQ 100
    RSQDHFHVFV GDLSPEITTE DIKAAFAPFG RISDARVVKD MATGKSKGYG 150
    FVSFFNKWDA ENAIQQMGGQ WLGGRQIRTN WATRKPPAPK STYESNTKQL 200
    SYDEVVNQSS PSNCTVYCGG VTSGLTEQLM RQTFSPFGQI MEIRVFPDKG 250
    YSFVRFNSHE SAAHAIVSVN GTTIEGHVVK CYWGKETLDM INPVQQQNQI 300
    GYPQPYGQWG QWYGNAQQIG QYMPNGWQVP AYGMYGQAWN QQGFNQTQSS 350
    APWMGPNYGV QPPQGQNGSM LPNQPSGYRV AGYETQ 386
    Length:386
    Mass (Da):42,963
    Last modified:September 23, 2008 - v3
    Checksum:i4FD2E8B7AF57A0D6
    GO
    Isoform Short (identifier: P31483-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         93-104: SSTVVSTQRSQD → N

    Show »
    Length:375
    Mass (Da):41,801
    Checksum:i067CB6A801563505
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti116 – 1161E → Q in M77142. (PubMed:1934064)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti384 – 3841E → K in WDM; results in a mild increase of stress granule numbers compared to controls. 2 Publications
    VAR_069897

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei93 – 10412SSTVV…QRSQD → N in isoform Short. 1 PublicationVSP_005892Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M77142 mRNA. No translation available.
    S70114 Genomic DNA. Translation: AAD14053.1.
    AC016700 Genomic DNA. Translation: AAX93193.1.
    CH471053 Genomic DNA. Translation: EAW99824.1.
    CCDSiCCDS1900.1. [P31483-2]
    CCDS1901.1. [P31483-1]
    PIRiA39293.
    RefSeqiNP_071320.2. NM_022037.2. [P31483-2]
    NP_071505.2. NM_022173.2. [P31483-1]
    UniGeneiHs.413123.

    Genome annotation databases

    EnsembliENST00000415783; ENSP00000404023; ENSG00000116001. [P31483-2]
    ENST00000433529; ENSP00000401371; ENSG00000116001. [P31483-1]
    GeneIDi7072.
    KEGGihsa:7072.
    UCSCiuc002sgj.4. human. [P31483-1]
    uc002sgk.4. human. [P31483-2]

    Polymorphism databases

    DMDMi206729905.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M77142 mRNA. No translation available.
    S70114 Genomic DNA. Translation: AAD14053.1 .
    AC016700 Genomic DNA. Translation: AAX93193.1 .
    CH471053 Genomic DNA. Translation: EAW99824.1 .
    CCDSi CCDS1900.1. [P31483-2 ]
    CCDS1901.1. [P31483-1 ]
    PIRi A39293.
    RefSeqi NP_071320.2. NM_022037.2. [P31483-2 ]
    NP_071505.2. NM_022173.2. [P31483-1 ]
    UniGenei Hs.413123.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2MJN NMR - A 105-285 [» ]
    3BS9 X-ray 1.95 A/B 105-186 [» ]
    ProteinModelPortali P31483.
    SMRi P31483. Positions 1-290.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112928. 22 interactions.
    IntActi P31483. 23 interactions.
    MINTi MINT-4823992.
    STRINGi 9606.ENSP00000401371.

    PTM databases

    PhosphoSitei P31483.

    Polymorphism databases

    DMDMi 206729905.

    Proteomic databases

    MaxQBi P31483.
    PaxDbi P31483.
    PRIDEi P31483.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000415783 ; ENSP00000404023 ; ENSG00000116001 . [P31483-2 ]
    ENST00000433529 ; ENSP00000401371 ; ENSG00000116001 . [P31483-1 ]
    GeneIDi 7072.
    KEGGi hsa:7072.
    UCSCi uc002sgj.4. human. [P31483-1 ]
    uc002sgk.4. human. [P31483-2 ]

    Organism-specific databases

    CTDi 7072.
    GeneCardsi GC02M070437.
    HGNCi HGNC:11802. TIA1.
    MIMi 603518. gene.
    604454. phenotype.
    neXtProti NX_P31483.
    Orphaneti 603. Distal myopathy, Welander type.
    PharmGKBi PA36511.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0724.
    HOGENOMi HOG000206748.
    HOVERGENi HBG105006.
    InParanoidi P31483.
    KOi K13201.
    OMAi XTAGNDP.
    OrthoDBi EOG7XH6QJ.
    PhylomeDBi P31483.
    TreeFami TF312915.

    Miscellaneous databases

    ChiTaRSi TIA1. human.
    EvolutionaryTracei P31483.
    GenomeRNAii 7072.
    NextBioi 27655.
    PROi P31483.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P31483.
    Bgeei P31483.
    CleanExi HS_TIA1.
    Genevestigatori P31483.

    Family and domain databases

    Gene3Di 3.30.70.330. 3 hits.
    InterProi IPR012677. Nucleotide-bd_a/b_plait.
    IPR000504. RRM_dom.
    [Graphical view ]
    Pfami PF00076. RRM_1. 3 hits.
    [Graphical view ]
    SMARTi SM00360. RRM. 3 hits.
    [Graphical view ]
    PROSITEi PS50102. RRM. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A polyadenylate binding protein localized to the granules of cytolytic lymphocytes induces DNA fragmentation in target cells."
      Tian Q., Streuli M., Saito H., Schlossman S.F., Anderson P.
      Cell 67:629-639(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT).
    2. "Intron-exon organization and chromosomal localization of the human TIA-1 gene."
      Kawakami A., Tian Q., Streuli M., Poe M., Edelhoff S., Disteche C.M., Anderson P.
      J. Immunol. 152:4937-4945(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING.
      Tissue: Leukocyte.
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "Stress granule assembly is mediated by prion-like aggregation of TIA-1."
      Gilks N., Kedersha N., Ayodele M., Shen L., Stoecklin G., Dember L.M., Anderson P.
      Mol. Biol. Cell 15:5383-5398(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    7. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. "Structure of the central RNA recognition motif of human TIA-1 at 1.95A resolution."
      Kumar A.O., Swenson M.C., Benning M.M., Kielkopf C.L.
      Biochem. Biophys. Res. Commun. 367:813-819(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.95 ANGSTROMS) OF 105-186, SUBCELLULAR LOCATION.
    9. Cited for: VARIANT WDM LYS-384, CHARACTERIZATION OF VARIANT WDM LYS-384.
    10. "Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing."
      Klar J., Sobol M., Melberg A., Maebert K., Ameur A., Johansson A.C., Feuk L., Entesarian M., Orlen H., Casar-Borota O., Dahl N.
      Hum. Mutat. 34:572-577(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT WDM LYS-384.

    Entry informationi

    Entry nameiTIA1_HUMAN
    AccessioniPrimary (citable) accession number: P31483
    Secondary accession number(s): Q53SS9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 1, 1993
    Last sequence update: September 23, 2008
    Last modified: October 1, 2014
    This is version 139 of the entry and version 3 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3