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P31483 (TIA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 137. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:TIA1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length386 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subcellular location

Cytoplasmic granule. Nucleus. Note: Accumulates in cytoplasmic stress granules (SG) following cellular damage. Ref.5 Ref.8

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9 Ref.10

Sequence similarities

Contains 3 RRM (RNA recognition motif) domains.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform Long (identifier: P31483-1)

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.
Isoform Short (identifier: P31483-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 386386Nucleolysin TIA-1 isoform p40
PRO_0000031031

Regions

Domain7 – 8377RRM 1
Domain106 – 18479RRM 2
Domain214 – 28673RRM 3

Amino acid modifications

Modified residue11N-acetylmethionine Ref.7

Natural variations

Alternative sequence93 – 10412SSTVV…QRSQD → N in isoform Short.
VSP_005892
Natural variant3841E → K in WDM; results in a mild increase of stress granule numbers compared to controls. Ref.9 Ref.10
VAR_069897

Experimental info

Sequence conflict1161E → Q in M77142. Ref.1

Secondary structure

............................. 386
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform Long [UniParc].

Last modified September 23, 2008. Version 3.
Checksum: 4FD2E8B7AF57A0D6

FASTA38642,963
        10         20         30         40         50         60 
MEDEMPKTLY VGNLSRDVTE ALILQLFSQI GPCKNCKMIM DTAGNDPYCF VEFHEHRHAA 

        70         80         90        100        110        120 
AALAAMNGRK IMGKEVKVNW ATTPSSQKKD TSSSTVVSTQ RSQDHFHVFV GDLSPEITTE 

       130        140        150        160        170        180 
DIKAAFAPFG RISDARVVKD MATGKSKGYG FVSFFNKWDA ENAIQQMGGQ WLGGRQIRTN 

       190        200        210        220        230        240 
WATRKPPAPK STYESNTKQL SYDEVVNQSS PSNCTVYCGG VTSGLTEQLM RQTFSPFGQI 

       250        260        270        280        290        300 
MEIRVFPDKG YSFVRFNSHE SAAHAIVSVN GTTIEGHVVK CYWGKETLDM INPVQQQNQI 

       310        320        330        340        350        360 
GYPQPYGQWG QWYGNAQQIG QYMPNGWQVP AYGMYGQAWN QQGFNQTQSS APWMGPNYGV 

       370        380 
QPPQGQNGSM LPNQPSGYRV AGYETQ 

« Hide

Isoform Short [UniParc].

Checksum: 067CB6A801563505
Show »

FASTA37541,801

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[7]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
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]"Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1."
Hackman P., Sarparanta J., Lehtinen S., Vihola A., Evila A., Jonson P.H., Luque H., Kere J., Screen M., Chinnery P.F., Ahlberg G., Edstrom L., Udd B.
Ann. Neurol. 73:500-509(2013) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M77142 mRNA. No translation available.
S70114 Genomic DNA. Translation: AAD14053.1.
AC016700 Genomic DNA. Translation: AAX93193.1.
CH471053 Genomic DNA. Translation: EAW99824.1.
CCDSCCDS1900.1. [P31483-2]
CCDS1901.1. [P31483-1]
PIRA39293.
RefSeqNP_071320.2. NM_022037.2. [P31483-2]
NP_071505.2. NM_022173.2. [P31483-1]
UniGeneHs.413123.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2MJNNMR-A105-285[»]
3BS9X-ray1.95A/B105-186[»]
ProteinModelPortalP31483.
SMRP31483. Positions 1-290.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112928. 21 interactions.
IntActP31483. 23 interactions.
MINTMINT-4823992.
STRING9606.ENSP00000401371.

PTM databases

PhosphoSiteP31483.

Polymorphism databases

DMDM206729905.

Proteomic databases

MaxQBP31483.
PaxDbP31483.
PRIDEP31483.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000415783; ENSP00000404023; ENSG00000116001. [P31483-2]
ENST00000433529; ENSP00000401371; ENSG00000116001. [P31483-1]
GeneID7072.
KEGGhsa:7072.
UCSCuc002sgj.4. human. [P31483-1]
uc002sgk.4. human. [P31483-2]

Organism-specific databases

CTD7072.
GeneCardsGC02M070437.
HGNCHGNC:11802. TIA1.
MIM603518. gene.
604454. phenotype.
neXtProtNX_P31483.
Orphanet603. Distal myopathy, Welander type.
PharmGKBPA36511.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0724.
HOGENOMHOG000206748.
HOVERGENHBG105006.
InParanoidP31483.
KOK13201.
OMAXTAGNDP.
OrthoDBEOG7XH6QJ.
PhylomeDBP31483.
TreeFamTF312915.

Gene expression databases

ArrayExpressP31483.
BgeeP31483.
CleanExHS_TIA1.
GenevestigatorP31483.

Family and domain databases

Gene3D3.30.70.330. 3 hits.
InterProIPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
[Graphical view]
PfamPF00076. RRM_1. 3 hits.
[Graphical view]
SMARTSM00360. RRM. 3 hits.
[Graphical view]
PROSITEPS50102. RRM. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSTIA1. human.
EvolutionaryTraceP31483.
GenomeRNAi7072.
NextBio27655.
PROP31483.
SOURCESearch...

Entry information

Entry nameTIA1_HUMAN
AccessionPrimary (citable) accession number: P31483
Secondary accession number(s): Q53SS9
Entry history
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: September 23, 2008
Last modified: July 9, 2014
This is version 137 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM