SART1 (spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP)

Gene

• Entrez ID: 9092
• Gene name: Spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP
• Gene symbol: SART1
• Synonyms (NCBI Gene): Ara1, HAF, HOMS1, SART1259, SNRNP110, Snu66
• Chromosome: 11
• Chromosome location: 11q13.1
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051199	hsa-miR-16-5p	CLASH	23622248
MIRT046653	hsa-miR-222-3p	CLASH	23622248
MIRT039840	hsa-miR-615-3p	CLASH	23622248
MIRT1326359	hsa-miR-1182	CLIP-seq
MIRT1326360	hsa-miR-129-5p	CLIP-seq
MIRT1326361	hsa-miR-146b-3p	CLIP-seq
MIRT1326362	hsa-miR-1587	CLIP-seq
MIRT1326363	hsa-miR-3173-5p	CLIP-seq
MIRT1326364	hsa-miR-3672	CLIP-seq
MIRT1326365	hsa-miR-378g	CLIP-seq
MIRT1326366	hsa-miR-4436a	CLIP-seq
MIRT1326367	hsa-miR-4492	CLIP-seq
MIRT1326368	hsa-miR-4498	CLIP-seq
MIRT1326369	hsa-miR-4656	CLIP-seq
MIRT1326370	hsa-miR-4675	CLIP-seq
MIRT1326371	hsa-miR-4700-3p	CLIP-seq
MIRT1326372	hsa-miR-4732-3p	CLIP-seq
MIRT1326373	hsa-miR-4741	CLIP-seq
MIRT1326374	hsa-miR-513a-3p	CLIP-seq
MIRT1326375	hsa-miR-762	CLIP-seq
MIRT1326376	hsa-miR-874	CLIP-seq
MIRT1326361	hsa-miR-146b-3p	CLIP-seq
MIRT1326362	hsa-miR-1587	CLIP-seq
MIRT1326363	hsa-miR-3173-5p	CLIP-seq
MIRT1326365	hsa-miR-378g	CLIP-seq
MIRT1326367	hsa-miR-4492	CLIP-seq
MIRT1326368	hsa-miR-4498	CLIP-seq
MIRT1326369	hsa-miR-4656	CLIP-seq
MIRT1326370	hsa-miR-4675	CLIP-seq
MIRT1326372	hsa-miR-4732-3p	CLIP-seq
MIRT1326373	hsa-miR-4741	CLIP-seq
MIRT1326375	hsa-miR-762	CLIP-seq
MIRT1326376	hsa-miR-874	CLIP-seq
MIRT2321207	hsa-miR-1224-3p	CLIP-seq
MIRT2321208	hsa-miR-1245	CLIP-seq
MIRT2321209	hsa-miR-1260	CLIP-seq
MIRT2321210	hsa-miR-1260b	CLIP-seq
MIRT2321211	hsa-miR-1280	CLIP-seq
MIRT2321212	hsa-miR-1297	CLIP-seq
MIRT2321213	hsa-miR-1343	CLIP-seq
MIRT2321214	hsa-miR-150	CLIP-seq
MIRT2321215	hsa-miR-1915	CLIP-seq
MIRT2321216	hsa-miR-26a	CLIP-seq
MIRT2321217	hsa-miR-26b	CLIP-seq
MIRT2321218	hsa-miR-3529	CLIP-seq
MIRT2321219	hsa-miR-379	CLIP-seq
MIRT2321220	hsa-miR-4310	CLIP-seq
MIRT2321221	hsa-miR-4451	CLIP-seq
MIRT2321222	hsa-miR-4465	CLIP-seq
MIRT2321223	hsa-miR-4650-3p	CLIP-seq
MIRT2321224	hsa-miR-4711-3p	CLIP-seq
MIRT2321225	hsa-miR-4713-5p	CLIP-seq
MIRT2321226	hsa-miR-4726-3p	CLIP-seq
MIRT2321227	hsa-miR-532-3p	CLIP-seq
MIRT2617378	hsa-miR-371-5p	CLIP-seq
MIRT2617379	hsa-miR-371b-5p	CLIP-seq
MIRT2617380	hsa-miR-510	CLIP-seq
MIRT2617381	hsa-miR-512-5p	CLIP-seq
MIRT2617382	hsa-miR-550b	CLIP-seq
MIRT2617378	hsa-miR-371-5p	CLIP-seq
MIRT2617379	hsa-miR-371b-5p	CLIP-seq
MIRT2617380	hsa-miR-510	CLIP-seq
MIRT2617381	hsa-miR-512-5p	CLIP-seq
MIRT2617382	hsa-miR-550b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000387	Process	Spliceosomal snRNP assembly	TAS	16687569
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	28781166
GO:0000398	Process	MRNA splicing, via spliceosome	IEA
GO:0000398	Process	MRNA splicing, via spliceosome	NAS	30975767
GO:0000481	Process	Maturation of 5S rRNA	IBA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0005515	Function	Protein binding	IPI	15620657, 16723661, 17000644, 17332742, 20467437, 22365833, 25092792, 28514442, 30021884, 32296183, 33961781, 35271311
GO:0005634	Component	Nucleus	IDA	28781166
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	30975767
GO:0005654	Component	Nucleoplasm	IDA	16687569
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005681	Component	Spliceosomal complex	IPI	30975767
GO:0005737	Component	Cytoplasm	TAS	9856836
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	TAS	9449708, 10929426
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0015030	Component	Cajal body	IDA	16687569
GO:0016607	Component	Nuclear speck	IDA
GO:0045292	Process	MRNA cis splicing, via spliceosome	IBA
GO:0045585	Process	Positive regulation of cytotoxic T cell differentiation	IDA	10209962
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IBA
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IEA
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IPI	30975767
GO:0071005	Component	U2-type precatalytic spliceosome	IDA	28781166
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638

Other IDs

• MIM: 605941
• HGNC: 10538
• e!Ensembl: ENSG00000175467

Protein

• UniProt ID: O43290
• Protein name: U4/U6.U5 tri-snRNP-associated protein 1 (SNU66 homolog) (hSnu66) (Squamous cell carcinoma antigen recognized by T-cells 1) (SART-1) (hSART-1) (U4/U6.U5 tri-snRNP-associated 110 kDa protein) (allergen Hom s 1)
• Protein 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.
• PDB: 4PYU, 5O9Z, 6AHD, 6QW6, 6QX9, 8H6E, 8H6J, 8H6K, 8H6L, 8Q7N, 8QO9, 8QOZ, 8QP8, 8QP9, 8QPA, 8QPB, 8QPE, 8QPK, 8QXD, 8QZS, 8R08, 8R09, 8R0A, 8R0B, 8RM5, 8Y6O
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03343	SART-1	117 → 753	SART-1 family	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:9449708}.
• Sequence:

  MGSSKKHRGEKEAAGTTAAAGTGGATEQPPRHREHKKHKHRSGGSGGSGGERRKRSRERG
  GERGSGRRGAEAEARSSTHGRERSQAEPSERRVKREKRDDGYEAAASSKTSSGDASSLSI
  EETNKLRAKLGLKPLEVNAIKKEAGTKEEPVTADVINPMALRQREELREKLAAAKEKRLL
  NQKLGKIKTLGEDDPWLDDTAAWIERSRQLQKEKDLAEKRAKLLEEMDQEFGVSTLVEEE
  FGQRRQDLYSARDLQGLTVEHAIDSFREGETMILTLKDKGVLQEEEDVLVNVNLVDKERA
  EKNVELRKKKPDYLPYAEDESVDDLAQQKPRSILSKYDEELEGERPHSFRLEQGGTADGL
  RERELEEIRAKLRLQAQSLSTVGPRLASEYLTPEEMVTFKKTKRRVKKIRKKEKEVVVRA
  DDLLPLGDQTQDGDFGSRLRGRGRRRVSEVEEEKEPVPQPLPSDDTRVENMDISDEEEGG
  APPPGSPQVLEEDEAELELQKQLEKGRRLRQLQQLQQLRDSGEKVVEIVKKLESRQRGWE
  EDEDPERKGAIVFNATSEFCRTLGEIPTYGLAGNREEQEELMDFERDEERSANGGSESDG
  EENIGWSTVNLDEEKQQQDFSASSTTILDEEPIVNRGLAAALLLCQNKGLLETTVQKVAR
  VKAPNKSLPSAVYCIEDKMAIDDKYSRREEYRGFTQDFKEKDGYKPDVKIEYVDETGRKL
  TPKEAFRQLSHRFHGKGSGKMKTERRMKKLDEEALLKKMSSSDTPLGTVALLQEKQKAQK
  TPYIVLSGSGKSMNANTITK

• Sequence length: 800

Pathways

KEGG:

Spliceosome

Reactome:

mRNA Splicing - Major Pathway

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bladder Neoplasm	Bladder Neoplasm	BEFREE	24316875		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19377877, 21695249, 9935232		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19377877, 21695249	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	24316875		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	10081490, 11956635, 9856836	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22027693		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22027693	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25421578, 25915846, 28572533		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	9856836	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	26799785		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21695249		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	21695249	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21695249		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	17255279	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	36500376	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26799785		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19377877, 21695249, 9935232		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	30705246		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	24316875		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16158934, 21512133, 24316875, 24556687, 26799785		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21512133, 29481555, 9935232		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	24556687		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	36500376	Associate	★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	26799785		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	30705246		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28572533		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	12189166		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	26799785		★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	10081490	Associate	★☆☆☆☆ Found in Text Mining only