SART1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP [Homo sapiens (human)] - Gene

Summary

Official Symbol: SART1provided by HGNC
Official Full Name: spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNPprovided by HGNC
Primary source: HGNC:HGNC:10538
See related: Ensembl:ENSG00000175467 MIM:605941; AllianceGenome:HGNC:10538
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: HAF; Ara1; HOMS1; Snu66; SART1259; SNRNP110
Summary: 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]
Expression: Ubiquitous expression in bone marrow (RPKM 16.1), spleen (RPKM 14.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.1

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (65961734..65980137)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (65954815..65974269)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (65729205..65747608)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Suppressing Sart1 to modulate macrophage polarization by siRNA-loaded liposomes: a promising therapeutic strategy for pulmonary fibrosis.
Title: Suppressing Sart1 to modulate macrophage polarization by siRNA-loaded liposomes: a promising therapeutic strategy for pulmonary fibrosis.
Patients with clear cell renal carcinoma with high HAF transcript or protein levels showed significantly decreased overall survival compared with those with low HAF. Functional study shows that HAF promotes neurofibromin ubiquitination and degradation independently of oxygen and pVHL, resulting in Ras-ERK pathway activation.
Title: Hypoxia-Associated Factor (HAF) Mediates Neurofibromin Ubiquitination and Degradation Leading to Ras-ERK Pathway Activation in Hypoxia.
SART1 has a role in IFN-mediated anti-Hepatitis B virus response
Title: Expression of Interferon Effector Gene SART1 Correlates with Interferon Treatment Response against Hepatitis B Infection.
Data indicate that mutant VHL can protect HIF1alpha from SART1-dependent degradation in normoxic conditions, but this protection is lost in hypoxic settings, favoring hypoxia-dependent ccRCC proliferation.
Title: Mutant versions of von Hippel-Lindau (VHL) can protect HIF1α from SART1-mediated degradation in clear-cell renal cell carcinoma.
SART1 exerts its anti-Hepatitis C virus action through direct transcriptional regulation for some Interferon stimulating genes and alternative splicing for others.
Title: The spliceosome factor SART1 exerts its anti-HCV action through mRNA splicing.
This study identifies SART1 as a previously unidentified regulator of c-FLIP and drug-induced activation of caspase-8.
Title: A systems biology approach identifies SART1 as a novel determinant of both 5-fluorouracil and SN38 drug resistance in colorectal cancer.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Association of mitotic regulation pathway polymorphisms with pancreatic cancer risk and outcome.
hypoxia-associated factor (HAF), also known as SART1, a protein expressed in proliferating cells, binds and ubiquitinates HIF-1alpha in vitro, and both binding and E3 ligase activity are mediated by HAF amino acids 654 to 800
Title: Hypoxia-associated factor, a novel E3-ubiquitin ligase, binds and ubiquitinates hypoxia-inducible factor 1alpha, leading to its oxygen-independent degradation.
Observational study of gene-disease association. (HuGE Navigator)
Title: Influence of multiple genetic polymorphisms on genitourinary morbidity after carbon ion radiotherapy for prostate cancer.
p110, a novel human U6 snRNP protein and U4/U6 snRNP recycling factor
Title: p110, a novel human U6 snRNP protein and U4/U6 snRNP recycling factor.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

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
Envelope surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify squamous cell carcinoma antigen (SART1; SNRNP110), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify squamous cell carcinoma antigen (SART1; SNRNP110), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify squamous cell carcinoma antigen (SART1; SNRNP110), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Pr55(Gag)	gag	HIV-1 Gag interacts with SART1 as demonstrated by proximity dependent biotinylation proteomics	PubMed
	gag	Tandem affinity purification and mass spectrometry analysis identify squamous cell carcinoma antigen (SART1; SNRNP110), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
retropepsin	gag-pol	Positional proteomics analysis identifies the cleavage of human squamous cell carcinoma antigen recognized by T cells (SART1) at amino acid residues 396-397 by the HIV-1 protease	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH92212 (e-PCR)
- UniSTS:83823

MARC_26072-26073:1032454189:5 (e-PCR)
- UniSTS:268930

RH16397 (e-PCR)
- UniSTS:34506

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mRNA cis splicing, via spliceosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA splicing, via spliceosome	IC Inferred by Curator more info	PubMed
involved_in mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed
involved_in mRNA splicing, via spliceosome	NAS Non-traceable Author Statement more info	PubMed
involved_in maturation of 5S rRNA	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cytotoxic T cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in spliceosomal snRNP assembly	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Cajal body	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
part_of U2-type precatalytic spliceosome	IDA Inferred from Direct Assay more info	PubMed
part_of U4/U6 x U5 tri-snRNP complex	IBA Inferred from Biological aspect of Ancestor more info
part_of U4/U6 x U5 tri-snRNP complex	IPI Inferred from Physical Interaction more info	PubMed
part_of catalytic step 2 spliceosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info	PubMed
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: U4/U6.U5 tri-snRNP-associated protein 1

Names: IgE autoantigen; SART-1; SART1(259) protein; SART1(800) protein; SART1, U4/U6.U5 tri-snRNP-associated protein 1; SNU66 homolog; U4/U6.U5 tri-snRNP-associated 110 kDa protein; hSART-1; hSnu66; hypoxia associated factor; small nuclear ribonucleoprotein 110kDa (U4/U6.U5); squamous cell carcinoma antigen recognised by T cells; squamous cell carcinoma antigen recognized by T-cells 1

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.