Human Gene SART3 (ENST00000546815.6_10) from GENCODE V47lift37
  Description: spliceosome associated factor 3, U4/U6 recycling protein (from RefSeq NM_014706.4)
Gencode Transcript: ENST00000546815.6_10
Gencode Gene: ENSG00000075856.12_16
Transcript (Including UTRs)
   Position: hg19 chr12:108,915,991-108,954,949 Size: 38,959 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg19 chr12:108,917,234-108,954,930 Size: 37,697 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:108,915,991-108,954,949)mRNA (may differ from genome)Protein (963 aa)
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-  Comments and Description Text from UniProtKB
  ID: SART3_HUMAN
DESCRIPTION: RecName: Full=Squamous cell carcinoma antigen recognized by T-cells 3; Short=SART-3; Short=hSART-3; AltName: Full=Tat-interacting protein of 110 kDa; Short=Tip110;
FUNCTION: Regulates Tat transactivation activity through direct interaction. May be a cellular factor for HIV-1 gene expression and viral replication.
SUBUNIT: 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. Interacts with HIV-1 Tat. Interacts with EIF2C1 and EIF2C2.
INTERACTION: Q15287:RNPS1; NbExp=5; IntAct=EBI-308619, EBI-395959;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus speckle. Note=Localized in speckles. Expressed in the nucleus of all of the malignant tumor cell lines tested and the majority of cancer tissues with various histologies, including squamous cell carcinomas (SCC), adenocarcinomas, melanomas and leukemias cells. However, this protein is undetectable in the nucleus of any cell lines of nonmalignant cells or normal tissues, except for the testis. Expressed in the cytoplasm of all the proliferating cells, including normal and malignant cells, but not in normal tissues, except for the testis and the fetal liver.
TISSUE SPECIFICITY: Ubiquitously expressed.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE: Defects in SART3 are the cause of disseminated superficial actinic porokeratosis type 1 (DSAP1) [MIM:175900]. DSAP1 is an autosomal dominant disorder, characterized by multiple superficial keratotic lesions surrounded by a slightly raised keratotic border, developing during the third or fourth decade of life on sun-exposed areas of skin.
SIMILARITY: Contains 8 HAT repeats.
SIMILARITY: Contains 2 RRM (RNA recognition motif) domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SART3
Diseases sorted by gene-association score: hiv-1 (11), porokeratosis (10), squamous cell carcinoma (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 26.26 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 552.99 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR 0.00190.000 Picture PostScript Text
3' UTR -347.401243-0.279 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003107 - HAT
IPR008669 - LSM_interact
IPR012677 - Nucleotide-bd_a/b_plait
IPR000504 - RRM_dom

Pfam Domains:
PF00076 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)
PF05391 - Lsm interaction motif
PF16605 - LSM-interacting associated unstructured

SCOP Domains:
48452 - TPR-like
54928 - RNA-binding domain, RBD

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2DO4 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q15020
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0017070 U6 snRNA binding
GO:0030621 U4 snRNA binding
GO:0030624 U6atac snRNA binding
GO:0042393 histone binding
GO:1990381 ubiquitin-specific protease binding

Biological Process:
GO:0000244 spliceosomal tri-snRNP complex assembly
GO:0000387 spliceosomal snRNP assembly
GO:0000398 mRNA splicing, via spliceosome
GO:0000902 cell morphogenesis
GO:0006334 nucleosome assembly
GO:0006396 RNA processing
GO:0006397 mRNA processing
GO:0008380 RNA splicing
GO:0010468 regulation of gene expression
GO:0048872 homeostasis of number of cells
GO:0071425 hematopoietic stem cell proliferation
GO:1903586 positive regulation of histone deubiquitination

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0015030 Cajal body
GO:0016607 nuclear speck
GO:0005691 U6atac snRNP
GO:0071001 U4/U6 snRNP
GO:0046540 U4/U6 x U5 tri-snRNP complex
GO:0071002 U4atac/U6atac snRNP


-  Descriptions from all associated GenBank mRNAs
  AB020880 - Homo sapiens mRNA for squamous cell carcinoma antigen SART-3, complete cds.
CR933631 - Homo sapiens mRNA; cDNA DKFZp686A09106 (from clone DKFZp686A09106).
D63879 - Homo sapiens mRNA for KIAA0156 gene, complete cds.
AF387506 - Homo sapiens KIAA0156 isoform mRNA, complete cds.
AK290209 - Homo sapiens cDNA FLJ76238 complete cds, highly similar to Homo sapiens squamous cell carcinoma antigen recognised by T cells 3 (SART3), mRNA.
BC093784 - Homo sapiens squamous cell carcinoma antigen recognized by T cells 3, mRNA (cDNA clone MGC:120819 IMAGE:7939629), complete cds.
BC111983 - Homo sapiens squamous cell carcinoma antigen recognized by T cells 3, mRNA (cDNA clone MGC:138188 IMAGE:8327451), complete cds.
BC143253 - Homo sapiens squamous cell carcinoma antigen recognized by T cells 3, mRNA (cDNA clone MGC:176772 IMAGE:9051755), complete cds.
AK302332 - Homo sapiens cDNA FLJ50292 complete cds, highly similar to Squamous cell carcinoma antigen recognized byT-cells 3.
KJ898083 - Synthetic construct Homo sapiens clone ccsbBroadEn_07477 SART3 gene, encodes complete protein.
KR712178 - Synthetic construct Homo sapiens clone CCSBHm_00036630 SART3 (SART3) mRNA, encodes complete protein.
AB385287 - Synthetic construct DNA, clone: pF1KA0156, Homo sapiens SART3 gene for squamous cell carcinoma antigen recognized by T-cells 3, complete cds, without stop codon, in Flexi system.
AK225174 - Homo sapiens mRNA for squamous cell carcinoma antigen recognized by T cells 3 variant, clone: CBR08707.
AK304834 - Homo sapiens cDNA FLJ51777 complete cds, highly similar to Squamous cell carcinoma antigen recognized byT-cells 3.
AK299250 - Homo sapiens cDNA FLJ51951 partial cds, highly similar to Squamous cell carcinoma antigen recognized by T-cells 3.
JD326788 - Sequence 307812 from Patent EP1572962.
AB073647 - Homo sapiens primary neuroblastoma cDNA, clone:Nbla00150, full insert sequence.
DQ591833 - Homo sapiens piRNA piR-58945, complete sequence.
JD322719 - Sequence 303743 from Patent EP1572962.
JD357404 - Sequence 338428 from Patent EP1572962.
JD068027 - Sequence 49051 from Patent EP1572962.
JD281055 - Sequence 262079 from Patent EP1572962.
JD445671 - Sequence 426695 from Patent EP1572962.
JD166722 - Sequence 147746 from Patent EP1572962.
JD135547 - Sequence 116571 from Patent EP1572962.
BC103706 - Homo sapiens squamous cell carcinoma antigen recognized by T cells 3, mRNA (cDNA clone IMAGE:6162918), partial cds.
BC004547 - Homo sapiens squamous cell carcinoma antigen recognised by T cells 3, mRNA (cDNA clone IMAGE:3958574), partial cds.
BC024279 - Homo sapiens squamous cell carcinoma antigen recognized by T cells 3, mRNA (cDNA clone IMAGE:4810833), with apparent retained intron.
BC032601 - Homo sapiens squamous cell carcinoma antigen recognized by T cells 3, mRNA (cDNA clone IMAGE:5534381), partial cds.
BC015627 - Homo sapiens squamous cell carcinoma antigen recognized by T cells 3, mRNA (cDNA clone IMAGE:4844039), with apparent retained intron.
BC041638 - Homo sapiens squamous cell carcinoma antigen recognized by T cells 3, mRNA (cDNA clone IMAGE:4844061), complete cds.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K2E4, B7ZKM0, ENST00000546815.1, ENST00000546815.2, ENST00000546815.3, ENST00000546815.4, ENST00000546815.5, KIAA0156 , NM_014706, Q15020, Q2M2H0, Q58F06, Q8IUS1, Q96J95, SART3 , SART3_HUMAN, TIP110 , uc324xsd.1, uc324xsd.2
UCSC ID: ENST00000546815.6_10
RefSeq Accession: NM_014706.4
Protein: Q15020 (aka SART3_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.