SART3 spliceosome associated factor 3, U4/U6 recycling protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: SART3provided by HGNC
Official Full Name: spliceosome associated factor 3, U4/U6 recycling proteinprovided by HGNC
Primary source: HGNC:HGNC:16860
See related: Ensembl:ENSG00000075856 MIM:611684; AllianceGenome:HGNC:16860
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: P100; p110; DSAP1; TIP110; p110(nrb); RP11-13G14
Summary: 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]
Expression: Ubiquitous expression in testis (RPKM 12.7), lymph node (RPKM 12.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q23.3

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (108522214..108561173, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (108491579..108530540, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (108915991..108954949, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

USP4 regulates TUT1 ubiquitination status in concert with SART3.
Title: USP4 regulates TUT1 ubiquitination status in concert with SART3.
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Title: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Genetic association study detected misalignment in previous whole exome sequence: association study of ZNF806 and SART3 in tardive dystonia.
Title: Genetic association study detected misalignment in previous whole exome sequence: association study of ZNF806 and SART3 in tardive dystonia.
rs2072580T>A Polymorphism in the Overlapping Promoter Regions of the SART3 and ISCU Genes Associated with the Risk of Breast Cancer.
Title: rs2072580T>A Polymorphism in the Overlapping Promoter Regions of the SART3 and ISCU Genes Associated with the Risk of Breast Cancer.
In vitro binding experiments revealed that the RNA-recognition motifs within the SART3 sequence are responsible for selective pre-miR-34a binding. Our results provide evidence for a significant role of SART3 in miR-34a biogenesis and cell cycle progression in non-small-cell lung cancer (NSCLC) cells.
Title: The RNA-binding protein SART3 promotes miR-34a biogenesis and G(1) cell cycle arrest in lung cancer cells.
LASTR promotes splicing efficiency by controlling SART3 association with the U4 and U6 small nuclear ribonucleoproteins (snRNP) during spliceosome recycling.
Title: Stress-induced lncRNA LASTR fosters cancer cell fitness by regulating the activity of the U4/U6 recycling factor SART3.
Study demonstrated that Tip110 contributed to the regulation of the expression of IL-8 in melanoma cells and that the expression level of Tip110 had a prognostic value for melanoma patients.
Title: Tip110/SART3 regulates IL-8 expression and predicts the clinical outcomes in melanoma.
The findings demonstrate that constitutive Tip110 expression in human cord blood CD34(+) cells is regulated, at least in part, through its interaction with CstF64, recruitment of CstF64 to, and selective usage of two polyadenylation sites within its 3'UTR.
Title: Regulation of Constitutive Tip110 Expression in Human Cord Blood CD34(+) Cells Through Selective Usage of the Proximal and Distal Polyadenylation Sites Within the 3'Untranslated Region.
Data suggest that ZIP, USP39, Prp24/p100/SART3, and Prp43 associate to form complex instrumental in spliceosome assembly; ZIP regulates pre-mRNA splicing of USP39 independent of RNA binding; stable 35S tri-snRNP particles are enriched in Cajal body. (ZIP = zinc finger and G-patch domain-containing protein; USP39 = ubiquitin specific peptidase 39; Prp43 = RNA helicase Prp43)
Title: Identification of a 35S U4/U6.U5 tri-small nuclear ribonucleoprotein (tri-snRNP) complex intermediate in spliceosome assembly.
We show that PRP31, a component of U4 snRNP, is modified with K63-linked ubiquitin chains by the PRP19 complex and deubiquitinated by USP15 and its substrate targeting factor SART3. USP15SART3 makes a complex with USP4 and this ternary complex serves as a platform to deubiquitinate PRP31 and PRP3
Title: USP15 regulates dynamic protein-protein interactions of the spliceosome through deubiquitination of PRP31.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat complexes with LARP7, MEPCE, SART3, NPM1, PPM1G, hnRNP-F, and 7SK RNA to form a Tat-7SK RNP complex to control HIV-1 transcription	PubMed
	tat	The interaction of Tip110 with HIV-1 Tat leads to a higher efficiency of elongation for RNAPII complexes formed on the LTR promoter	PubMed
	tat	Expression of both Tip110 and Tat enhances phosphorylation of RNAPII at both serine 2 and serine 5, which account for Tip110 function in transcription activation	PubMed
	tat	The interaction of Tip110 with HIV-1 Tat and the RNAPII C-terminal domain leads to the recruitment of increased CDK9/CycT1 to the transcription complex	PubMed
	tat	Tip110 binds to HIV-1 Tat and regulates Tat transactivation activity, suggesting an important role for Tip110 in HIV-1 gene expression and viral replication	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A007J29 (e-PCR)
- UniSTS:78853

D12S1605 (e-PCR), detects polymorphism
- UniSTS:26660

RH25375 (e-PCR)
- UniSTS:89125

D12F290S2 (e-PCR)
- UniSTS:157485

WI-17609 (e-PCR)
- UniSTS:75822

SHGC-173295 (e-PCR)
- UniSTS:182646

SART3_3515 (e-PCR)
- UniSTS:462508

SGC31638 (e-PCR)
- UniSTS:61874

D12S1727 (e-PCR), detects polymorphism
- UniSTS:16078

D12S78 (e-PCR)
- UniSTS:40924

G54201 (e-PCR)
- UniSTS:109559

SART3 (e-PCR)
- UniSTS:258303

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
NOT enables U4 snRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables U4 snRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables U6 snRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables U6atac snRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables histone binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-specific protease binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in hematopoietic stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in homeostasis of number of cells	IEA Inferred from Electronic Annotation more info
involved_in mRNA splicing, via spliceosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed
involved_in nucleosome assembly	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in spliceosomal snRNP assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in spliceosomal tri-snRNP complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in transcription elongation-coupled chromatin remodeling	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of ASAP complex	IBA Inferred from Biological aspect of Ancestor more info
located_in Cajal body	IDA Inferred from Direct Assay more info	PubMed
part_of U4/U6 snRNP	IDA Inferred from Direct Assay more info	PubMed
NOT part_of U4/U6 x U5 tri-snRNP complex	IDA Inferred from Direct Assay more info	PubMed
NOT part_of U4atac/U6atac snRNP	IDA Inferred from Direct Assay more info	PubMed
part_of U6atac snRNP	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: squamous cell carcinoma antigen recognized by T-cells 3

Names: HIV-1 Tat-interacting protein of 110kDa; PRP24 homolog; SART-3; hSART-3; p110 nuclear RNA-binding protein; squamous cell carcinoma antigen recognized by T cells 3; tat-interacting protein of 110 kDa

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012155.2 RefSeqGene

Range

5217..44176

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1285

mRNA and Protein(s)

NM_001410983.1 → NP_001397912.1 squamous cell carcinoma antigen recognized by T-cells 3 isoform 2

Status: REVIEWED

Source sequence(s)

AC008119, AC010206

Consensus CDS

CCDS91747.1

UniProtKB/TrEMBL

A0A499FI31

Related

ENSP00000228284.4, ENST00000228284.8
NM_014706.4 → NP_055521.1 squamous cell carcinoma antigen recognized by T-cells 3 isoform 1

See identical proteins and their annotated locations for NP_055521.1

Status: REVIEWED

Source sequence(s)

AI656011, BC032601, BQ231651, CN349201, D63879, DA391623

Consensus CDS

CCDS9117.1

UniProtKB/Swiss-Prot

A8K2E4, B7ZKM0, Q15020, Q2M2H0, Q58F06, Q8IUS1, Q96J95

Related

ENSP00000449386.2, ENST00000546815.6

Conserved Domains (4) summary

cd12391
Location:705 → 778

RRM1_SART3; RNA recognition motif 1 in squamous cell carcinoma antigen recognized by T-cells 3 (SART3) and similar proteins

cd12392
Location:799 → 879

RRM2_SART3; RNA recognition motif 2 in squamous cell carcinoma antigen recognized by T-cells 3 (SART3) and similar proteins

pfam16605
Location:877 → 933

LSM_int_assoc; LSM-interacting associated unstructured

cl26993
Location:100 → 460

Suf; Suppressor of forked protein (Suf)