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Aliases for SART1 Gene

Aliases for SART1 Gene

  • SART1, U4/U6.U5 Tri-SnRNP-Associated Protein 1 2 3 5
  • Squamous Cell Carcinoma Antigen Recognized By T-Cells 1 2 3 4
  • Squamous Cell Carcinoma Antigen Recognised By T Cells 2 3
  • Small Nuclear Ribonucleoprotein 110kDa (U4/U6.U5) 2 3
  • U4/U6.U5 Tri-SnRNP-Associated 110 KDa Protein 3 4
  • Hypoxia Associated Factor 2 3
  • SNU66 Homolog 3 4
  • HSART-1 3 4
  • SART-1 3 4
  • HSnu66 3 4
  • Squamous Cell Carcinoma Antigen Recognized By T Cells 1 2
  • U4/U6.U5 Tri-SnRNP-Associated Protein 1 3
  • SART1(259) Protein 3
  • SART1(800) Protein 3
  • Allergen Hom S 1 4
  • IgE Autoantigen 3
  • SART1259 3
  • SNRNP110 3
  • HOMS1 3
  • Snu66 3
  • Ara1 3
  • HAF 3

External Ids for SART1 Gene

Previous GeneCards Identifiers for SART1 Gene

  • GC11P068263
  • GC11P067410
  • GC11P065504
  • GC11P065485
  • GC11P065730
  • GC11P062055

Summaries for SART1 Gene

Entrez Gene Summary for SART1 Gene

  • This gene encodes two proteins, the SART1(800) protein expressed in the nucleus of the majority of proliferating cells, and the SART1(259) protein expressed in the cytosol of epithelial cancers. The SART1(259) protein is translated by the mechanism of -1 frameshifting during posttranscriptional regulation; its full-length sequence is not published yet. The two encoded proteins are thought to be involved in the regulation of proliferation. Both proteins have tumor-rejection antigens. The SART1(259) protein possesses tumor epitopes capable of inducing HLA-A2402-restricted cytotoxic T lymphocytes in cancer patients. This SART1(259) antigen may be useful in specific immunotherapy for cancer patients and may serve as a paradigmatic tool for the diagnosis and treatment of patients with atopy. The SART1(259) protein is found to be essential for the recruitment of the tri-snRNP to the pre-spliceosome in the spliceosome assembly pathway. [provided by RefSeq, Jul 2008]

GeneCards Summary for SART1 Gene

SART1 (SART1, U4/U6.U5 Tri-SnRNP-Associated Protein 1) is a Protein Coding gene. Diseases associated with SART1 include Squamous Cell Carcinoma. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway.

UniProtKB/Swiss-Prot for SART1 Gene

  • Plays a role in mRNA splicing as a component of the U4/U6-U5 tri-snRNP, one of the building blocks of the spliceosome. May also bind to DNA.

Gene Wiki entry for SART1 Gene

Additional gene information for SART1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SART1 Gene

Genomics for SART1 Gene

GeneHancer (GH) Regulatory Elements for SART1 Gene

Promoters and enhancers for SART1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I065960 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 576.7 +0.4 439 2.8 PKNOX1 SMAD1 ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 ZNF207 ZNF143 SART1 EIF1AD PCNX3 ZFPL1 POLA2 ENSG00000255320 ENSG00000258297 RELA KAT5 SF3B2
GH11I065470 Promoter/Enhancer 2.9 VISTA FANTOM5 Ensembl ENCODE dbSUPER 127.7 -471.6 -471605 40 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 LOC105369346 SF1 PCNX3 POLA2 ZFPL1 EIF1AD SART1 MUS81 LOC105369352 KAT5
GH11I065851 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 79.6 -104.2 -104205 12.2 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 MUS81 CFL1 EIF1AD POLA2 PCNX3 SART1 ENSG00000258297 ZFPL1 RBM14 RBM4
GH11I065414 Promoter/Enhancer 2.4 FANTOM5 Ensembl ENCODE dbSUPER 75.8 -537.5 -537508 18.8 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 NEAT1 ENSG00000277599 ENSG00000278050 ENSG00000278144 GC11P065529 SF1 ZFPL1 EIF1AD POLA2 PCNX3
GH11I065886 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 55.7 -66.2 -66231 18.4 CLOCK ZFP64 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 ZNF263 SP3 FOSL1 FIBP CCDC85B SNX32 ENSG00000258297 EIF1AD RBM14 MUS81 SART1 POLA2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SART1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SART1 gene promoter:

Genomic Locations for SART1 Gene

Genomic Locations for SART1 Gene
chr11:65,961,689-65,980,136
(GRCh38/hg38)
Size:
18,448 bases
Orientation:
Plus strand
chr11:65,729,160-65,747,607
(GRCh37/hg19)

Genomic View for SART1 Gene

Genes around SART1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SART1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SART1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SART1 Gene

Proteins for SART1 Gene

  • Protein details for SART1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43290-SNUT1_HUMAN
    Recommended name:
    U4/U6.U5 tri-snRNP-associated protein 1
    Protein Accession:
    O43290
    Secondary Accessions:
    • A6NDN1
    • Q53GB5

    Protein attributes for SART1 Gene

    Size:
    800 amino acids
    Molecular mass:
    90255 Da
    Quaternary structure:
    • Identified in the spliceosome C complex. Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39.

    Three dimensional structures from OCA and Proteopedia for SART1 Gene

    Alternative splice isoforms for SART1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SART1 Gene

Post-translational modifications for SART1 Gene

Other Protein References for SART1 Gene

No data available for DME Specific Peptides for SART1 Gene

Domains & Families for SART1 Gene

Gene Families for SART1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SART1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SART1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43290

UniProtKB/Swiss-Prot:

SNUT1_HUMAN :
  • Belongs to the SNU66/SART1 family.
Family:
  • Belongs to the SNU66/SART1 family.
genes like me logo Genes that share domains with SART1: view

Function for SART1 Gene

Molecular function for SART1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in mRNA splicing as a component of the U4/U6-U5 tri-snRNP, one of the building blocks of the spliceosome. May also bind to DNA.

Phenotypes From GWAS Catalog for SART1 Gene

Gene Ontology (GO) - Molecular Function for SART1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA,IDA 22658674
GO:0005515 protein binding IPI 15620657
genes like me logo Genes that share ontologies with SART1: view
genes like me logo Genes that share phenotypes with SART1: view

Animal Model Products

CRISPR Products

miRNA for SART1 Gene

miRTarBase miRNAs that target SART1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SART1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SART1 Gene

Localization for SART1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SART1 Gene

Nucleus. Note=Found in the nucleus of mitogen-activated peripheral blood mononuclear cells (PBMCs), tumor cells, or normal cell lines, but not in normal tissues except testis and fetal liver or in unstimulated PBMCs, suggesting preferential expression in proliferating cells.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SART1 gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (4)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SART1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS,IDA --
GO:0005681 spliceosomal complex IEA --
GO:0005737 cytoplasm TAS 9856836
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with SART1: view

Pathways & Interactions for SART1 Gene

genes like me logo Genes that share pathways with SART1: view

Pathways by source for SART1 Gene

1 R&D Systems pathway for SART1 Gene

Gene Ontology (GO) - Biological Process for SART1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000387 spliceosomal snRNP assembly TAS 16687569
GO:0000398 mRNA splicing, via spliceosome TAS,IEA --
GO:0000481 maturation of 5S rRNA IBA --
GO:0006397 mRNA processing IEA --
GO:0007050 cell cycle arrest NAS 16158934
genes like me logo Genes that share ontologies with SART1: view

No data available for SIGNOR curated interactions for SART1 Gene

Drugs & Compounds for SART1 Gene

(1) Drugs for SART1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SART1: view

Transcripts for SART1 Gene

Unigene Clusters for SART1 Gene

Squamous cell carcinoma antigen recognized by T cells:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SART1

Alternative Splicing Database (ASD) splice patterns (SP) for SART1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^
SP1: - - - -
SP2: -
SP3: - -
SP4: - - -
SP5: - -
SP6:
SP7: -
SP8:

ExUns: 20a · 20b ^ 21
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for SART1 Gene

GeneLoc Exon Structure for
SART1
ECgene alternative splicing isoforms for
SART1

Expression for SART1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SART1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SART1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (23.8), CD8 Tcells (11.3), and Testis (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SART1 Gene



Protein tissue co-expression partners for SART1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SART1 Gene:

SART1

SOURCE GeneReport for Unigene cluster for SART1 Gene:

Hs.502883

mRNA Expression by UniProt/SwissProt for SART1 Gene:

O43290-SNUT1_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for SART1 Gene

  • Liver(4.4)
  • Intestine(4.3)
  • Nervous system(3.8)
  • Spleen(2)
genes like me logo Genes that share expression patterns with SART1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SART1 Gene

Orthologs for SART1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SART1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SART1 34 33
  • 99.5 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SART1 33 34
  • 90.62 (n)
dog
(Canis familiaris)
Mammalia SART1 33 34
  • 89.83 (n)
mouse
(Mus musculus)
Mammalia Sart1 33 16 34
  • 88.29 (n)
rat
(Rattus norvegicus)
Mammalia Sart1 33
  • 87.15 (n)
oppossum
(Monodelphis domestica)
Mammalia SART1 34
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SART1 34
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sart1 33
  • 66.32 (n)
Str.8940 33
African clawed frog
(Xenopus laevis)
Amphibia MGC53679 33
zebrafish
(Danio rerio)
Actinopterygii sart1 33 34
  • 66.84 (n)
Dr.1088 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12399 33
fruit fly
(Drosophila melanogaster)
Insecta CG6686 35 34
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea F19F10.9 35 34
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9207 34
  • 36 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4237 33
Species where no ortholog for SART1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • 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)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)

Evolution for SART1 Gene

ENSEMBL:
Gene Tree for SART1 (if available)
TreeFam:
Gene Tree for SART1 (if available)

Paralogs for SART1 Gene

No data available for Paralogs for SART1 Gene

Variants for SART1 Gene

Sequence variations from dbSNP and Humsavar for SART1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000007881 -- 65,973,065(+) T/C intron_variant
rs1000072033 -- 65,976,218(+) G/A intron_variant
rs1000349464 -- 65,962,950(+) A/G intron_variant
rs1000397229 -- 65,973,955(+) G/A intron_variant
rs1000451701 -- 65,960,615(+) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SART1 Gene

Variant ID Type Subtype PubMed ID
esv1062790 CNV insertion 17803354
esv25439 CNV loss 19812545
nsv832191 CNV loss 17160897

Variation tolerance for SART1 Gene

Residual Variation Intolerance Score: 9.61% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.49; 85.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SART1 Gene

Human Gene Mutation Database (HGMD)
SART1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SART1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SART1 Gene

Disorders for SART1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SART1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
squamous cell carcinoma
  • epidermoid carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search SART1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SART1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SART1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SART1 Gene

Publications for SART1 Gene

  1. Intron loss in the SART1 genes of Fugu rubripes and Tetraodon nigroviridis. (PMID: 11410364) Bolland DJ … Hewitt JE (Gene 2001) 3 4 22 58
  2. A gene encoding antigenic peptides of human squamous cell carcinoma recognized by cytotoxic T lymphocytes. (PMID: 9449708) Shichijo S … Itoh K (The Journal of experimental medicine 1998) 2 3 4 58
  3. Influence of multiple genetic polymorphisms on genitourinary morbidity after carbon ion radiotherapy for prostate cancer. (PMID: 18374504) Suga T … Imai T (International journal of radiation oncology, biology, physics 2008) 3 44 58
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  5. The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP. (PMID: 16723661) Liu S … Lührmann R (RNA (New York, N.Y.) 2006) 3 4 58

Products for SART1 Gene

  • Addgene plasmids for SART1

Sources for SART1 Gene