• Gene id: 9092

Gene Summary

• Gene Symbol: SART1   Gene   UCSC   Ensembl
• Aliases: Ara1, HAF, HOMS1, SART1259, SNRNP110, Snu66
• Gene name: spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP
• Alternate names: U4/U6.U5 tri-snRNP-associated protein 1, 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 ,
• Gene location: 11q13.1 (65961726: 65980136)     Exons: 20     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 604614

Protein Summary

• Protein general information: O43290  
  • 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)
  • Length: 800  
  • Mass: 90255
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MGSSKKHRGEKEAAGTTAAAGTGGATEQPPRHREHKKHKHRSGGSGGSGGERRKRSRERGGERGSGRRGAEAEAR
  SSTHGRERSQAEPSERRVKREKRDDGYEAAASSKTSSGDASSLSIEETNKLRAKLGLKPLEVNAIKKEAGTKEEP
  VTADVINPMALRQREELREKLAAAKEKRLLNQKLGKIKTLGEDDPWLDDTAAWIERSRQLQKEKDLAEKRAKLLE
  EMDQEFGVSTLVEEEFGQRRQDLYSARDLQGLTVEHAIDSFREGETMILTLKDKGVLQEEEDVLVNVNLVDKERA
  EKNVELRKKKPDYLPYAEDESVDDLAQQKPRSILSKYDEELEGERPHSFRLEQGGTADGLRERELEEIRAKLRLQ
  AQSLSTVGPRLASEYLTPEEMVTFKKTKRRVKKIRKKEKEVVVRADDLLPLGDQTQDGDFGSRLRGRGRRRVSEV
  EEEKEPVPQPLPSDDTRVENMDISDEEEGGAPPPGSPQVLEEDEAELELQKQLEKGRRLRQLQQLQQLRDSGEKV
  VEIVKKLESRQRGWEEDEDPERKGAIVFNATSEFCRTLGEIPTYGLAGNREEQEELMDFERDEERSANGGSESDG
  EENIGWSTVNLDEEKQQQDFSASSTTILDEEPIVNRGLAAALLLCQNKGLLETTVQKVARVKAPNKSLPSAVYCI
  EDKMAIDDKYSRREEYRGFTQDFKEKDGYKPDVKIEYVDETGRKLTPKEAFRQLSHRFHGKGSGKMKTERRMKKL
  DEEALLKKMSSSDTPLGTVALLQEKQKAQKTPYIVLSGSGKSMNANTITK

• Structural information:
  • Interpro: IPR005011  
  • PDB: 4PYU 5O9Z 6AHD 6QW6 6QX9
  • PDBsum: 4PYU 5O9Z 6AHD 6QW6 6QX9
  • DIP: 33360
  • STRING: ENSP00000310448
• Other Databases: GeneCards:  SART1  Malacards:  SART1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000481	maturation of 5S rRNA	IBA	biological process
GO:0045292	mRNA cis splicing, via spliceosome	IBA	biological process
GO:0046540	U4/U6 x U5 tri-snRNP complex	IBA	cellular component
GO:0071013	catalytic step 2 spliceosome	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0071005	U2-type precatalytic spliceosome	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IEA	biological process
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0015030	Cajal body	IDA	cellular component
GO:0000387	spliceosomal snRNP assembly	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0045585	positive regulation of cytotoxic T cell differentiation	IDA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq