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Protein

Nucleolysin TIA-1 isoform p40

Gene

TIA1

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

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

  • AU-rich element binding Source: Ensembl
  • nucleotide binding Source: InterPro
  • poly(A) binding Source: ProtInc
  • poly(A) RNA binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Apoptosis

Keywords - Ligandi

RNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000116001-MONOMER.
ReactomeiR-HSA-6803529. FGFR2 alternative splicing.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:11802. TIA1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: AgBase
  • cytoplasmic stress granule Source: MGI
  • nuclear stress granule Source: MGI
  • nucleoplasm Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Welander distal myopathy (WDM)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:604454
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069897384E → K in WDM; results in a mild increase of stress granule numbers compared to controls. 2 PublicationsCorresponds to variant rs747068278dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi7072.
MalaCardsiTIA1.
MIMi604454. phenotype.
OpenTargetsiENSG00000116001.
Orphaneti603. Distal myopathy, Welander type.
PharmGKBiPA36511.

Polymorphism and mutation databases

BioMutaiTIA1.
DMDMi206729905.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000310311 – 386Nucleolysin TIA-1 isoform p40Add BLAST386

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiP31483.
MaxQBiP31483.
PaxDbiP31483.
PeptideAtlasiP31483.
PRIDEiP31483.

PTM databases

iPTMnetiP31483.
PhosphoSitePlusiP31483.

Expressioni

Gene expression databases

BgeeiENSG00000116001.
CleanExiHS_TIA1.
ExpressionAtlasiP31483. baseline and differential.
GenevisibleiP31483. HS.

Organism-specific databases

HPAiHPA056961.

Interactioni

Protein-protein interaction databases

BioGridi112928. 43 interactors.
IntActiP31483. 26 interactors.
MINTiMINT-4823992.
STRINGi9606.ENSP00000401371.

Structurei

Secondary structure

1386
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi106 – 112Combined sources7
Helixi119 – 126Combined sources8
Helixi127 – 129Combined sources3
Beta strandi132 – 139Combined sources8
Turni141 – 143Combined sources3
Beta strandi146 – 156Combined sources11
Helixi157 – 167Combined sources11
Beta strandi178 – 182Combined sources5
Helixi202 – 206Combined sources5
Beta strandi215 – 219Combined sources5
Helixi227 – 234Combined sources8
Turni235 – 237Combined sources3
Beta strandi240 – 246Combined sources7
Turni247 – 250Combined sources4
Beta strandi251 – 258Combined sources8
Helixi259 – 269Combined sources11
Beta strandi280 – 283Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2MJNNMR-A105-285[»]
3BS9X-ray1.95A/B105-186[»]
ProteinModelPortaliP31483.
SMRiP31483.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP31483.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini7 – 83RRM 1PROSITE-ProRule annotationAdd BLAST77
Domaini106 – 184RRM 2PROSITE-ProRule annotationAdd BLAST79
Domaini214 – 286RRM 3PROSITE-ProRule annotationAdd BLAST73

Sequence similaritiesi

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

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0148. Eukaryota.
ENOG410XQ8U. LUCA.
GeneTreeiENSGT00860000133749.
HOGENOMiHOG000206748.
HOVERGENiHBG105006.
InParanoidiP31483.
KOiK13201.
OMAiFGTMGPV.
OrthoDBiEOG091G0FH8.
PhylomeDBiP31483.
TreeFamiTF312915.

Family and domain databases

Gene3Di3.30.70.330. 3 hits.
InterProiIPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
IPR003954. RRM_dom_euk.
[Graphical view]
PfamiPF00076. RRM_1. 3 hits.
[Graphical view]
SMARTiSM00360. RRM. 3 hits.
SM00361. RRM_1. 3 hits.
[Graphical view]
SUPFAMiSSF54928. SSF54928. 3 hits.
PROSITEiPS50102. RRM. 3 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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

        10         20         30         40         50
MEDEMPKTLY VGNLSRDVTE ALILQLFSQI GPCKNCKMIM DTAGNDPYCF
60 70 80 90 100
VEFHEHRHAA AALAAMNGRK IMGKEVKVNW ATTPSSQKKD TSSSTVVSTQ
110 120 130 140 150
RSQDHFHVFV GDLSPEITTE DIKAAFAPFG RISDARVVKD MATGKSKGYG
160 170 180 190 200
FVSFFNKWDA ENAIQQMGGQ WLGGRQIRTN WATRKPPAPK STYESNTKQL
210 220 230 240 250
SYDEVVNQSS PSNCTVYCGG VTSGLTEQLM RQTFSPFGQI MEIRVFPDKG
260 270 280 290 300
YSFVRFNSHE SAAHAIVSVN GTTIEGHVVK CYWGKETLDM INPVQQQNQI
310 320 330 340 350
GYPQPYGQWG QWYGNAQQIG QYMPNGWQVP AYGMYGQAWN QQGFNQTQSS
360 370 380
APWMGPNYGV QPPQGQNGSM LPNQPSGYRV AGYETQ
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
Isoform 3 (identifier: P31483-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     195-214: SNTKQLSYDEVVNQSSPSNC → CRCIGEEKEMWNFGEKYARF
     215-386: Missing.

Note: No experimental confirmation available.
Show »
Length:214
Mass (Da):24,062
Checksum:iD7D026D8FD3BFA6C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti116E → Q in M77142 (PubMed:1934064).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069897384E → K in WDM; results in a mild increase of stress granule numbers compared to controls. 2 PublicationsCorresponds to variant rs747068278dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00589293 – 104SSTVV…QRSQD → N in isoform Short. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_057403195 – 214SNTKQ…SPSNC → CRCIGEEKEMWNFGEKYARF in isoform 3. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_057404215 – 386Missing in isoform 3. 1 PublicationAdd BLAST172

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.
CH471053 Genomic DNA. Translation: EAW99826.1.
CH471053 Genomic DNA. Translation: EAW99827.1.
BC015944 mRNA. Translation: AAH15944.1.
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]
ENST00000416149; ENSP00000413751; ENSG00000116001. [P31483-3]
ENST00000433529; ENSP00000401371; ENSG00000116001. [P31483-1]
GeneIDi7072.
KEGGihsa:7072.
UCSCiuc002sgj.5. human. [P31483-1]
uc002sgm.4. human.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.
CH471053 Genomic DNA. Translation: EAW99826.1.
CH471053 Genomic DNA. Translation: EAW99827.1.
BC015944 mRNA. Translation: AAH15944.1.
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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2MJNNMR-A105-285[»]
3BS9X-ray1.95A/B105-186[»]
ProteinModelPortaliP31483.
SMRiP31483.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112928. 43 interactors.
IntActiP31483. 26 interactors.
MINTiMINT-4823992.
STRINGi9606.ENSP00000401371.

PTM databases

iPTMnetiP31483.
PhosphoSitePlusiP31483.

Polymorphism and mutation databases

BioMutaiTIA1.
DMDMi206729905.

Proteomic databases

EPDiP31483.
MaxQBiP31483.
PaxDbiP31483.
PeptideAtlasiP31483.
PRIDEiP31483.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000415783; ENSP00000404023; ENSG00000116001. [P31483-2]
ENST00000416149; ENSP00000413751; ENSG00000116001. [P31483-3]
ENST00000433529; ENSP00000401371; ENSG00000116001. [P31483-1]
GeneIDi7072.
KEGGihsa:7072.
UCSCiuc002sgj.5. human. [P31483-1]
uc002sgm.4. human.

Organism-specific databases

CTDi7072.
DisGeNETi7072.
GeneCardsiTIA1.
HGNCiHGNC:11802. TIA1.
HPAiHPA056961.
MalaCardsiTIA1.
MIMi603518. gene.
604454. phenotype.
neXtProtiNX_P31483.
OpenTargetsiENSG00000116001.
Orphaneti603. Distal myopathy, Welander type.
PharmGKBiPA36511.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0148. Eukaryota.
ENOG410XQ8U. LUCA.
GeneTreeiENSGT00860000133749.
HOGENOMiHOG000206748.
HOVERGENiHBG105006.
InParanoidiP31483.
KOiK13201.
OMAiFGTMGPV.
OrthoDBiEOG091G0FH8.
PhylomeDBiP31483.
TreeFamiTF312915.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000116001-MONOMER.
ReactomeiR-HSA-6803529. FGFR2 alternative splicing.

Miscellaneous databases

ChiTaRSiTIA1. human.
EvolutionaryTraceiP31483.
GenomeRNAii7072.
PROiP31483.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000116001.
CleanExiHS_TIA1.
ExpressionAtlasiP31483. baseline and differential.
GenevisibleiP31483. HS.

Family and domain databases

Gene3Di3.30.70.330. 3 hits.
InterProiIPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
IPR003954. RRM_dom_euk.
[Graphical view]
PfamiPF00076. RRM_1. 3 hits.
[Graphical view]
SMARTiSM00360. RRM. 3 hits.
SM00361. RRM_1. 3 hits.
[Graphical view]
SUPFAMiSSF54928. SSF54928. 3 hits.
PROSITEiPS50102. RRM. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTIA1_HUMAN
AccessioniPrimary (citable) accession number: P31483
Secondary accession number(s): Q53SS9, Q96B58
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: September 23, 2008
Last modified: November 30, 2016
This is version 164 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.