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Aliases for SART3 Gene

Aliases for SART3 Gene

  • Squamous Cell Carcinoma Antigen Recognized By T-Cells 3 2 3 5
  • HIV-1 Tat-Interacting Protein Of 110kDa 2 3
  • Tat-Interacting Protein Of 110 KDa 3 4
  • P110 Nuclear RNA-Binding Protein 3 4
  • SART-3 3 4
  • TIP110 3 4
  • RP11-13G14 3
  • P110(Nrb) 3
  • KIAA0156 4
  • HSART-3 3
  • DSAP1 3
  • P100 3
  • P110 3

External Ids for SART3 Gene

Previous GeneCards Identifiers for SART3 Gene

  • GC12M108022
  • GC12M108797
  • GC12M107418
  • GC12M108915
  • GC12M105980

Summaries for SART3 Gene

Entrez Gene Summary for SART3 Gene

  • The protein encoded by this gene is an RNA-binding nuclear protein that is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is found to be an important cellular factor for HIV-1 gene expression and viral replication. It also associates transiently with U6 and U4/U6 snRNPs during the recycling phase of the spliceosome cycle. This encoded protein is thought to be involved in the regulation of mRNA splicing. [provided by RefSeq, Jul 2008]

GeneCards Summary for SART3 Gene

SART3 (Squamous Cell Carcinoma Antigen Recognized By T-Cells 3) is a Protein Coding gene. Diseases associated with SART3 include Hiv-1 and Porokeratosis. GO annotations related to this gene include nucleic acid binding and nucleotide binding.

UniProtKB/Swiss-Prot for SART3 Gene

  • U6 snRNP-binding protein that functions as a recycling factor of the splicing machinery. Promotes the initial reassembly of U4 and U6 snRNPs following their ejection from the spliceosome during its maturation (PubMed:12032085). Also binds U6atac snRNPs and may function as a recycling factor for U4atac/U6atac spliceosomal snRNP, an initial step in the assembly of U12-type spliceosomal complex. The U12-type spliceosomal complex plays a role in the splicing of introns with non-canonical splice sites (PubMed:14749385). May also function as a substrate-targeting factor for deubiquitinases like USP4 and USP15. Recruits USP4 to ubiquitinated PRPF3 within the U4/U5/U6 tri-snRNP complex, promoting PRPF3 deubiquitination and thereby regulating the spliceosome U4/U5/U6 tri-snRNP spliceosomal complex disassembly (PubMed:20595234). May also recruit the deubiquitinase USP15 to histone H2B and mediate histone deubiquitination, thereby regulating gene expression and/or DNA repair (PubMed:24526689). May play a role in hematopoiesis probably through transcription regulation of specific genes including MYC (By similarity).

  • Regulates Tat transactivation activity through direct interaction. May be a cellular factor for HIV-1 gene expression and viral replication.

Gene Wiki entry for SART3 Gene

Additional gene information for SART3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SART3 Gene

Genomics for SART3 Gene

Regulatory Elements for SART3 Gene

Enhancers for SART3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H108820 2.1 FANTOM5 Ensembl ENCODE dbSUPER 53.9 -270.3 -270311 23 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 YY1 ZNF766 CBX5 ZNF143 SART3 UBE3B SSH1 CORO1C LINC01486 LOC644746 RNU4-32P SELPLG ALKBH2 ACACB
GH12H108626 2 FANTOM5 Ensembl ENCODE dbSUPER 38.7 -77.5 -77464 24 HDGF PKNOX1 ARNT FEZF1 ZNF766 CBX5 ZNF207 ZNF143 ZNF548 FOS PWP1 SART3 PRDM4 UBE3B RNU4-32P CORO1C FICD LOC101929162 SELPLG TMEM119
GH12H109051 1.2 ENCODE 59 -492.1 -492094 3 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF416 ZNF143 SP3 NFYC ZC3H11A SART3 UBE3B KCTD10 ALKBH2 WSCD2 USP30 CORO1C RNU4-32P TCHP USP30-AS1
GH12H108605 0.9 dbSUPER 71.8 -44.6 -44593 1 HDGF ZNF473 ARNT ZNF493 YBX1 ZNF2 BRCA1 RARA TCF12 ZNF416 SART3 PWP1 ALKBH2 LOC101929162 PRDM4 UBE3B LINC01486 LOC644746 RNU4-32P USP30
GH12H108684 2 FANTOM5 Ensembl ENCODE dbSUPER 26.3 -130.2 -130236 13 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CORO1C SART3 LOC101929162 ALKBH2 UBE3B PRDM4 RNU7-169P SELPLG RNU4-32P KCTD10
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SART3 on UCSC Golden Path with GeneCards custom track

Promoters for SART3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000057052 -500 3801 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Location for SART3 Gene

Chromosome:
12
Start:
108,522,214 bp from pter
End:
108,561,400 bp from pter
Size:
39,187 bases
Orientation:
Minus strand

Genomic View for SART3 Gene

Genes around SART3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SART3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SART3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SART3 Gene

Proteins for SART3 Gene

  • Protein details for SART3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15020-SART3_HUMAN
    Recommended name:
    Squamous cell carcinoma antigen recognized by T-cells 3
    Protein Accession:
    Q15020
    Secondary Accessions:
    • A8K2E4
    • B7ZKM0
    • Q2M2H0
    • Q58F06
    • Q8IUS1
    • Q96J95

    Protein attributes for SART3 Gene

    Size:
    963 amino acids
    Molecular mass:
    109935 Da
    Quaternary structure:
    • Component of the 7SK snRNP complex at least composed of P-TEFb (composed of CDK9 and CCNT1/cyclin-T1), HEXIM1, HEXIM2, BCDIN3, SART3 proteins and 7SK and U6 snRNAs (PubMed:17643375). Interacts with AGO1 and AGO2 (PubMed:17932509). Interacts with PRPF3 and USP4; the interaction with PRPF3 is direct and recruits USP4 to its substrate PRPF3 (PubMed:15314151, PubMed:20595234). Interacts with USP15; the interaction is direct (PubMed:24526689). Interacts with HIV-1 Tat (PubMed:11959860).

    Three dimensional structures from OCA and Proteopedia for SART3 Gene

    Alternative splice isoforms for SART3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SART3 Gene

Post-translational modifications for SART3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SART3 Gene

Domains & Families for SART3 Gene

Gene Families for SART3 Gene

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

Suggested Antigen Peptide Sequences for SART3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SART3: view

No data available for UniProtKB/Swiss-Prot for SART3 Gene

Function for SART3 Gene

Molecular function for SART3 Gene

UniProtKB/Swiss-Prot Function:
U6 snRNP-binding protein that functions as a recycling factor of the splicing machinery. Promotes the initial reassembly of U4 and U6 snRNPs following their ejection from the spliceosome during its maturation (PubMed:12032085). Also binds U6atac snRNPs and may function as a recycling factor for U4atac/U6atac spliceosomal snRNP, an initial step in the assembly of U12-type spliceosomal complex. The U12-type spliceosomal complex plays a role in the splicing of introns with non-canonical splice sites (PubMed:14749385). May also function as a substrate-targeting factor for deubiquitinases like USP4 and USP15. Recruits USP4 to ubiquitinated PRPF3 within the U4/U5/U6 tri-snRNP complex, promoting PRPF3 deubiquitination and thereby regulating the spliceosome U4/U5/U6 tri-snRNP spliceosomal complex disassembly (PubMed:20595234). May also recruit the deubiquitinase USP15 to histone H2B and mediate histone deubiquitination, thereby regulating gene expression and/or DNA repair (PubMed:24526689). May play a role in hematopoiesis probably through transcription regulation of specific genes including MYC (By similarity).
UniProtKB/Swiss-Prot Function:
Regulates Tat transactivation activity through direct interaction. May be a cellular factor for HIV-1 gene expression and viral replication.

Phenotypes From GWAS Catalog for SART3 Gene

Gene Ontology (GO) - Molecular Function for SART3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IDA,IEA 22658674
GO:0005515 protein binding IPI 11477570
GO:0017070 U6 snRNA binding IDA 12032085
GO:0030621 NOT U4 snRNA binding IDA 15314151
genes like me logo Genes that share ontologies with SART3: view
genes like me logo Genes that share phenotypes with SART3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SART3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SART3 Gene

Localization for SART3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SART3 Gene

Nucleus, nucleoplasm. Nucleus, Cajal body. Nucleus speckle. Cytoplasm.

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 SART3 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for SART3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 24526689
GO:0005654 nucleoplasm IEA,IDA 12578909
GO:0005691 colocalizes_with U6atac snRNP IDA 14749385
GO:0005737 cytoplasm IEA --
GO:0015030 Cajal body IEA,IDA 12578909
genes like me logo Genes that share ontologies with SART3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SART3 Gene

Pathways & Interactions for SART3 Gene

SuperPathways for SART3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SART3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000244 spliceosomal tri-snRNP complex assembly IDA 12032085
GO:0000387 spliceosomal snRNP assembly IDA 14749385
GO:0000398 mRNA splicing, via spliceosome IDA 15314151
GO:0000902 cell morphogenesis IEA --
GO:0006334 nucleosome assembly IDA 24526689
genes like me logo Genes that share ontologies with SART3: view

No data available for Pathways by source and SIGNOR curated interactions for SART3 Gene

Drugs & Compounds for SART3 Gene

No Compound Related Data Available

Transcripts for SART3 Gene

Unigene Clusters for SART3 Gene

Squamous cell carcinoma antigen recognized by T cells 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SART3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SART3 Gene

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

ExUns: 16b ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20a · 20b
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for SART3 Gene

GeneLoc Exon Structure for
SART3
ECgene alternative splicing isoforms for
SART3

Expression for SART3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SART3 Gene

Protein differential expression in normal tissues from HIPED for SART3 Gene

This gene is overexpressed in Lymph node (12.3) and Peripheral blood mononuclear cells (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SART3 Gene



Protein tissue co-expression partners for SART3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SART3 Gene:

SART3

SOURCE GeneReport for Unigene cluster for SART3 Gene:

Hs.584842

mRNA Expression by UniProt/SwissProt for SART3 Gene:

Q15020-SART3_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for SART3 Gene

  • Nervous system(4.9)
  • Eye(4.4)
  • Bone marrow(4.2)
  • Skin(4.2)
  • Lung(2.6)
genes like me logo Genes that share expression patterns with SART3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SART3 Gene

Orthologs for SART3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SART3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SART3 33 34
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia SART3 33 34
  • 88.85 (n)
cow
(Bos Taurus)
Mammalia SART3 33 34
  • 85.73 (n)
mouse
(Mus musculus)
Mammalia Sart3 33 16 34
  • 83.25 (n)
rat
(Rattus norvegicus)
Mammalia Sart3 33
  • 83.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 75 (a)
OneToMany
-- 34
  • 55 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia SART3 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves SART3 33 34
  • 72.45 (n)
lizard
(Anolis carolinensis)
Reptilia SART3 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.16344 33
zebrafish
(Danio rerio)
Actinopterygii sart3 33 34
  • 64.72 (n)
Dr.28982 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2898 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002959 33
  • 44.09 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rnp4F 34
  • 17 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea B0035.12 35 33 34
  • 43.21 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons EMB140 33
  • 45.47 (n)
rice
(Oryza sativa)
Liliopsida Os08g0113200 33
  • 46.43 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6126 34
  • 40 (a)
OneToMany
-- 34
  • 37 (a)
OneToMany
Species where no ortholog for SART3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SART3 Gene

ENSEMBL:
Gene Tree for SART3 (if available)
TreeFam:
Gene Tree for SART3 (if available)

Paralogs for SART3 Gene

No data available for Paralogs for SART3 Gene

Variants for SART3 Gene

Sequence variations from dbSNP and Humsavar for SART3 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs118203954 Uncertain significance 108,530,286(-) CCCTT(A/G)TGCAG reference, missense
rs558084375 Uncertain significance 108,562,632(+) CGGCG(C/G)CTGGG nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs764795692 Uncertain significance 108,562,639(+) TGGGG(C/G/T)TTTCC nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs863224044 Uncertain significance 108,562,722(+) CCCGA(C/T)TCTAT nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs112552261 Benign 108,562,673(+) CTGCT(A/G)CTGCG nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for SART3 Gene

Variant ID Type Subtype PubMed ID
nsv473169 CNV novel sequence insertion 20440878
nsv479263 CNV novel sequence insertion 20440878
nsv479648 CNV novel sequence insertion 20440878
nsv480225 CNV novel sequence insertion 20440878
nsv480739 CNV novel sequence insertion 20440878
nsv560112 CNV loss 21841781

Variation tolerance for SART3 Gene

Residual Variation Intolerance Score: 3.93% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.17; 84.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SART3 Gene

Human Gene Mutation Database (HGMD)
SART3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SART3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SART3 Gene

Disorders for SART3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SART3 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hiv-1
  • aids, slow progression to
porokeratosis
  • disseminated superficial actinic porokeratosis
squamous cell carcinoma
  • epidermoid carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search SART3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SART3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SART3
genes like me logo Genes that share disorders with SART3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SART3 Gene

Publications for SART3 Gene

  1. A mutation in SART3 gene in a Chinese pedigree with disseminated superficial actinic porokeratosis. (PMID: 15840095) Zhang ZH … Huang W (The British journal of dermatology 2005) 2 3 4 22 60
  2. The Prp19 complex and the Usp4Sart3 deubiquitinating enzyme control reversible ubiquitination at the spliceosome. (PMID: 20595234) Song EJ … Rape M (Genes & development 2010) 2 3 4 60
  3. Human U4/U6 snRNP recycling factor p110: mutational analysis reveals the function of the tetratricopeptide repeat domain in recycling. (PMID: 15314151) Medenbach J … Bindereif A (Molecular and cellular biology 2004) 3 4 22 60
  4. p110, a novel human U6 snRNP protein and U4/U6 snRNP recycling factor. (PMID: 12032085) Bell M … Bindereif A (The EMBO journal 2002) 2 3 4 60
  5. Identification of a gene coding for a protein possessing shared tumor epitopes capable of inducing HLA-A24-restricted cytotoxic T lymphocytes in cancer patients. (PMID: 10463607) Yang D … Itoh K (Cancer research 1999) 3 4 22 60

Products for SART3 Gene

Sources for SART3 Gene

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