Aliases for TIA1 Gene
Aliases for TIA1 Gene
External Ids for TIA1 Gene
- HGNC: 11802
- Entrez Gene: 7072
- Ensembl: ENSG00000116001
- OMIM: 603518
- UniProtKB: P31483
Previous GeneCards Identifiers for TIA1 Gene
- GC02M070448
- GC02M070649
- GC02M070396
- GC02M070413
- GC02M070350
- GC02M070292
- GC02M070437
Summaries for TIA1 Gene
-
The product encoded by this gene is a member of a RNA-binding protein family and possesses nucleolytic activity against cytotoxic lymphocyte (CTL) target cells. It has been suggested that this protein may be involved in the induction of apoptosis as it preferentially recognizes poly(A) homopolymers and induces DNA fragmentation in CTL targets. The major granule-associated species is a 15-kDa protein that is thought to be derived from the carboxyl terminus of the 40-kDa product by proteolytic processing. Alternative splicing resulting in different isoforms has been found for this gene. [provided by RefSeq, May 2017]
GeneCards Summary for TIA1 Gene
TIA1 (TIA1 Cytotoxic Granule Associated RNA Binding Protein) is a Protein Coding gene. Diseases associated with TIA1 include Welander Distal Myopathy and Welander Distal Myopathy, Swedish Type. Among its related pathways are Signaling by FGFR2 and IL-10 Pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is TIAL1.
UniProtKB/Swiss-Prot for TIA1 Gene
-
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.
Additional gene information for TIA1 Gene
- Monarch Initiative
- Search for TIA1 at DataMed
- Search for TIA1 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TIA1 Gene
Genomics for TIA1 Gene
GeneHancer (GH) Regulatory Elements for TIA1 Gene
Promoters and enhancers for TIA1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around TIA1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the TIA1 gene promoter:
Regulatory Element Products
Genomic Locations for TIA1 Gene
Genomic Locations for TIA1 Gene
- chr2:70,209,444-70,248,707
- (GRCh38/hg38)
- Size:
- 39,264 bases
- Orientation:
- Minus strand
- chr2:70,436,576-70,475,792
- (GRCh37/hg19)
Genomic View for TIA1 Gene
Genes around TIA1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p13.3 by Ensembl
- 2p13.3 by Entrez Gene
- 2p13.3 by HGNC
TIA1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TIA1 Gene
Proteins for TIA1 Gene
-
Protein details for TIA1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P31483-TIA1_HUMAN
- Recommended name:
- Nucleolysin TIA-1 isoform p40
- Protein Accession:
- P31483
- Q53SS9
- Q96B58
Protein attributes for TIA1 Gene
- Size:
- 386 amino acids
- Molecular mass:
- 42963 Da
- Quaternary structure:
- No Data Available
Three dimensional structures from OCA and Proteopedia for TIA1 Gene
Protein Expression for TIA1 Gene
Post-translational modifications for TIA1 Gene
No Post-translational modifications
Other Protein References for TIA1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- NP_001338437.1
- NP_001338438.1
- NP_001338439.1
- NP_001338440.1
- NP_001338441.1
- NP_001338442.1
- NP_001338443.1
- NP_001338444.1
- NP_001338445.1
- NP_001338446.1
- NP_001338447.1
- NP_001338448.1
- NP_001338449.1
- NP_001338450.1
- NP_001338451.1
- NP_001338452.1
- NP_001338453.1
- NP_001338454.1
- NP_071320.2
- NP_071505.2
- XP_005264584.1
- XP_005264585.1
- XP_005264588.1
- XP_011531379.1
- XP_011531380.1
- XP_011531383.1
- XP_011531384.1
- XP_016860278.1
- XP_016860279.1
- XP_016860280.1
- XP_016860281.1
- XP_016860282.1
- XP_016860283.1
- XP_016860284.1
- XP_016860285.1
- XP_016860286.1
- XP_016860287.1
- XP_016860288.1
- XP_016860289.1
Antibody Products
- Cell Signaling Technology (CST) Antibodies for TIA1 (TIA1)
- Novus Biologicals Antibodies for TIA1
-
Abcam antibodies for TIA1
- Invitrogen Antibodies for TIA1
- GeneTex TIA1 antibody for TIA1
-
Santa Cruz Biotechnology (SCBT) Antibodies for TIA1
Protein Products
-
OriGene Purified Proteins for TIA1
- Search Origene for MassSpec and Protein Over-expression Lysates for TIA1
- Origene Custom Protein Services for TIA1
- antibodies-online: Search results for 5 available TIA1 Proteins ranked by validation data
- Compare Top TIA1 Proteins
-
Quality Products:
- Search GeneTex for Proteins for TIA1
-
Abcam proteins for TIA1
Assay Products
- antibodies-online: Search results for available TIA1 related products ranked by validation data
No data available for DME Specific Peptides for TIA1 Gene
Domains & Families for TIA1 Gene
Gene Families for TIA1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for TIA1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for TIA1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for TIA1 Gene
Function for TIA1 Gene
Molecular function for TIA1 Gene
- GENATLAS Biochemistry:
- cytotoxic granule associated RNA binding protein,p40-TIA1,40 kDa,expressed only in cytotoxic lymphocytes (CTL),precursor of 15 kDa (p15-TIA-1),major granule associated species
- UniProtKB/Swiss-Prot 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.
Phenotypes From GWAS Catalog for TIA1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | HDA,IEA | 22658674 |
| GO:0005515 | protein binding | IPI | 7544399 |
| GO:0008143 | poly(A) binding | TAS | 1934064 |
| GO:0017091 | AU-rich element binding | IEA | -- |
Phenotypes for TIA1 Gene
- MGI mutant phenotypes for TIA1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for TIA1:
Animal Models for TIA1 Gene
- MGI Knock Outs for TIA1:
-
- Tia1 tm1Andp
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for TIA1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for TIA1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for TIA1 gene
- Search ViGene Biosciences for TIA1
CRISPR Products
-
OriGene CRISPR knockouts for TIA1
- genomics-online: gRNA clones - Search results for 146 available TIA1 gene related products
- Overview of 146 available TIA1 gene related products
- Applied Biological Materials CRISPR for TIA1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TIA1
- GenScript: Design CRISPR guide RNA sequences for TIA1
miRNA for TIA1 Gene
- miRTarBase miRNAs that target TIA1
miRNA Products
- Search ViGene Biosciences for TIA1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for TIA1
- Browse OriGene Inhibitory RNA Products For TIA1
- genomics-online: shRNA clones - Search results for 146 available TIA1 gene related products
- Overview of 146 available TIA1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for TIA1 gene
Clone Products
- Sino Biological Human cDNA Clone for TIA1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for TIA1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TIA1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for TIA1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for TIA1
-
ViGene Biosciences adenoviral particle packaged cDNA for TIA1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for TIA1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for TIA1 gene
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TIA1 Gene
Localization for TIA1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TIA1 Gene
- Cytoplasm, Stress granule. Nucleus. Note=Accumulates in cytoplasmic stress granules (SG) following cellular damage. {ECO:0000269 PubMed:15371533}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| lysosome | 1 |
- Cytosol (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | IDA | 24965446 |
| GO:0005829 | cytosol | IDA | -- |
| GO:0010494 | cytoplasmic stress granule | IDA | 21984414 |
Pathways & Interactions for TIA1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Signaling by FGFR2 | ||
| 2 | Apoptosis and Autophagy | ||
| 3 | Translational Control | ||
| 4 | IL-10 Pathway | ||
| 5 | mRNA Capping | ||
Pathways by source for TIA1 Gene
2 Cell Signaling Technology pathways for TIA1 Gene
4 Reactome pathways for TIA1 Gene
1 Qiagen pathway for TIA1 Gene
Interacting Proteins for TIA1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006915 | apoptotic process | IEA,TAS | -- |
| GO:0008543 | fibroblast growth factor receptor signaling pathway | TAS | -- |
| GO:0017148 | negative regulation of translation | IEA | -- |
| GO:0042036 | negative regulation of cytokine biosynthetic process | IEA | -- |
| GO:0048024 | regulation of mRNA splicing, via spliceosome | IDA | 11106748 |
No data available for SIGNOR curated interactions for TIA1 Gene
Transcripts for TIA1 Gene
mRNA/cDNA for TIA1 Gene
- (39) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (364) Selected AceView cDNA sequences:
- (20) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for TIA1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for TIA1
- genomics-online: gRNA clones - Search results for 146 available TIA1 gene related products
- Overview of 146 available TIA1 gene related products
- Applied Biological Materials CRISPR for TIA1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TIA1
- GenScript: Design CRISPR guide RNA sequences for TIA1
miRNA Products
- Search ViGene Biosciences for TIA1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for TIA1
- Browse OriGene Inhibitory RNA Products For TIA1
- genomics-online: shRNA clones - Search results for 146 available TIA1 gene related products
- Overview of 146 available TIA1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for TIA1 gene
Clone Products
- Sino Biological Human cDNA Clone for TIA1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for TIA1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TIA1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for TIA1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: |
| ExUns: | 12b | ^ | 13 | ^ | 14a | · | 14b | ^ | 15a | · | 15b | · | 15c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||
| SP2: | - | ||||||||||||
| SP3: | |||||||||||||
| SP4: | |||||||||||||
| SP5: | |||||||||||||
| SP6: | |||||||||||||
| SP7: | - | ||||||||||||
| SP8: | |||||||||||||
| SP9: | |||||||||||||
| SP10: | |||||||||||||
| SP11: |
Expression for TIA1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Bone (29.5) and Peripheral blood mononuclear cells (8.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TIA1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of TIA1 Gene:
TIA1SOURCE GeneReport for Unigene cluster for TIA1 Gene:
Hs.413123Evidence on tissue expression from TISSUES for TIA1 Gene
- Blood(4.6)
- Nervous system(3.8)
- Lymph node(2.9)
- Skin(2.9)
- Intestine(2.7)
- Bone marrow(2.6)
- Spleen(2.6)
- Lung(2.2)
- Stomach(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for TIA1 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- head
Abdomen:
- kidney
Limb:
- arm
- forearm
- hand
- lower limb
- shin
- thigh
- upper limb
General:
- peripheral nerve
- peripheral nervous system
Primer Products
-
OriGene qPCR primer pairs for TIA1
-
OriGene qPCR primer pairs and template standards for TIA1
No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TIA1 Gene
Orthologs for TIA1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TIA1 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | TIA1 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | TIA1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | TIA1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Tia1 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Tia1 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | TIA1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | TIA1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | tia1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | tia1l 34 |
|
ManyToMany | |
| tia1 33 34 |
|
||||
| Dr.4576 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG4787 35 |
|
|
|
| Rox8 34 |
|
ManyToMany | |||
| CG34354 34 |
|
ManyToMany | |||
| CG34362 34 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | C18A3.5a 35 |
|
|
|
| C18A3.5b 35 |
|
|
|||
| C07A4.1 35 |
|
|
|||
| Y46G5A.13 35 |
|
|
|||
| tiar-1 34 |
|
ManyToMany | |||
| tiar-2 34 |
|
ManyToMany | |||
| tiar-3 34 |
|
ManyToMany | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PUB1 33 34 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E08779g 33 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AGR390C 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.8430 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU07874 33 |
|
- Species where no ortholog for TIA1 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for TIA1 Gene
(7) SIMAP similar genes for TIA1 Gene using alignment to 9 proteins:
Variants for TIA1 Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs114952383 | benign, Welander distal myopathy | 70,236,127(-) | T/C | 5_prime_UTR_variant, coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant | |
| rs115611153 | benign, not specified, Welander distal myopathy | 70,214,430(-) | T/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs116621885 | conflicting-interpretations-of-pathogenicity, benign, Welander distal myopathy, not specified | 70,212,810(-) | T/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs116828570 | benign, Welander distal myopathy | 70,214,436(-) | G/A/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs200499196 | uncertain-significance, Welander distal myopathy | 70,216,997(-) | G/A | intron_variant |
Residual Variation Intolerance Score:
32.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.94;
36.03% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TIA1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TIA1 Gene
Disorders for TIA1 Gene
(33) MalaCards diseases for TIA1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| welander distal myopathy |
|
|
| welander distal myopathy, swedish type |
|
|
| peripheral t-cell lymphoma |
|
|
| panniculitis |
|
|
| composite lymphoma |
|
|
Search TIA1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TIA1_HUMAN- 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. {ECO:0000269 PubMed:23348830, ECO:0000269 PubMed:23401021}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for TIA1
No data available for Genatlas for TIA1 Gene
Publications for TIA1 Gene
- Intron-exon organization and chromosomal localization of the human TIA-1 gene. (PMID: 8176212) Kawakami A … Anderson P (Journal of immunology (Baltimore, Md. : 1950) 1994) 2 3 4 22 58
- Structure of the central RNA recognition motif of human TIA-1 at 1.95A resolution. (PMID: 18201561) Kumar AO … Kielkopf CL (Biochemical and biophysical research communications 2008) 3 4 22 58
- The splicing regulator TIA-1 interacts with U1-C to promote U1 snRNP recruitment to 5' splice sites. (PMID: 12486009) Förch P … Valcárcel J (The EMBO journal 2002) 2 3 22 58
- A polyadenylate binding protein localized to the granules of cytolytic lymphocytes induces DNA fragmentation in target cells. (PMID: 1934064) Tian Q … Anderson P (Cell 1991) 3 4 22 58
- Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. (PMID: 23401021) Hackman P … Udd B (Annals of neurology 2013) 3 4 58
Products for TIA1 Gene
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- Browse R&D Systems for biochemical assays
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- Custom Antibody ServicesOriGene Antibodies for TIA1
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- Browse OriGene Inhibitory RNA Products For TIA1
- OriGene qPCR primer pairs and template standards for TIA1
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- GenScript: Next-day shipping of latest version cDNA ORF clones for TIA1 in any vector
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- GenScript: Design CRISPR guide RNA sequences for TIA1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for TIA1
- Cell Signaling Technology (CST) Antibodies for TIA1 (TIA1)
- Search for Antibodies & Assays
- Sino Biological Human cDNA Clone for TIA1
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
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- Browse Sino Biological ELISA Kits
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- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for TIA1
- Novus Biologicals lysates and proteins for TIA1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for TIA1
- Abcam proteins for TIA1
- Find your target
- Browse Primary Antibodies
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- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
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- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for TIA1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Cyagen custom Knockout/knockin (KOKI) mouse models for TIA1
- VectorBuilder custom plasmid, inducible vectors for TIA1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TIA1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 119 available TIA1 Antibodies ranked by validation data
- Compare Top TIA1 Antibodies
- antibodies-online: Search results for available TIA1 related products ranked by validation data
- antibodies-online: Search results for 5 available TIA1 Proteins ranked by validation data
- Compare Top TIA1 Proteins
- Quality Products:
- GeneTex TIA1 antibody for TIA1
- Search GeneTex for Proteins for TIA1
- ViGene Biosciences adenoviral particle packaged cDNA for TIA1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for TIA1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for TIA1 gene
- Search ViGene Biosciences for TIA1
- Santa Cruz Biotechnology (SCBT) Antibodies for TIA1
- Search Santa Cruz Biotechnology (SCBT) for TIA1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for TIA1
- Horizon Cell Lines for TIA1
- genomics-online: cdna clones - Search results for 146 available TIA1 gene related products
- Overview of 146 available TIA1 gene related products
- orf clones - Search results for 146 available TIA1 gene related products
- Overview of 146 available TIA1 gene related products
- genomics-online: gRNA clones - Search results for 146 available TIA1 gene related products
- Overview of 146 available TIA1 gene related products
- genomics-online: primer clones - Search results for 146 available TIA1 gene related products
- Overview of 146 available TIA1 gene related products
- genomics-online: shRNA clones - Search results for 146 available TIA1 gene related products
- Overview of 146 available TIA1 gene related products
Sources for TIA1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE <