• Gene id: 9733

Gene Summary

• Gene Symbol: SART3   Gene   UCSC   Ensembl
• Aliases: DSAP1, P100, RP11-13G14, TIP110, p110, p110(nrb)
• Gene name: spliceosome associated factor 3, U4/U6 recycling protein
• Alternate names: squamous cell carcinoma antigen recognized by T-cells 3, 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,
• Gene location: 12q23.3 (108561172: 108522213)     Exons: 20     NC_000012.12
• Gene summary(Entrez): 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 use
• OMIM: 611684

Protein Summary

• Protein general information: Q15020  
  • Name: Squamous cell carcinoma antigen recognized by T cells 3 (SART 3) (Tat interacting protein of 110 kDa) (Tip110) (p110 nuclear RNA binding protein)
  • Length: 963  
  • Mass: 109935
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MATAAETSASEPEAESKAGPKADGEEDEVKAARTRRKVLSRAVAAATYKTMGPAWDQQEEGVSESDGDEYAMASS
  AESSPGEYEWEYDEEEEKNQLEIERLEEQLSINVYDYNCHVDLIRLLRLEGELTKVRMARQKMSEIFPLTEELWL
  EWLHDEISMAQDGLDREHVYDLFEKAVKDYICPNIWLEYGQYSVGGIGQKGGLEKVRSVFERALSSVGLHMTKGL
  ALWEAYREFESAIVEAARLEKVHSLFRRQLAIPLYDMEATFAEYEEWSEDPIPESVIQNYNKALQQLEKYKPYEE
  ALLQAEAPRLAEYQAYIDFEMKIGDPARIQLIFERALVENCLVPDLWIRYSQYLDRQLKVKDLVLSVHNRAIRNC
  PWTVALWSRYLLAMERHGVDHQVISVTFEKALNAGFIQATDYVEIWQAYLDYLRRRVDFKQDSSKELEELRAAFT
  RALEYLKQEVEERFNESGDPSCVIMQNWARIEARLCNNMQKARELWDSIMTRGNAKYANMWLEYYNLERAHGDTQ
  HCRKALHRAVQCTSDYPEHVCEVLLTMERTEGSLEDWDIAVQKTETRLARVNEQRMKAAEKEAALVQQEEEKAEQ
  RKRARAEKKALKKKKKIRGPEKRGADEDDEKEWGDDEEEQPSKRRRVENSIPAAGETQNVEVAAGPAGKCAAVDV
  EPPSKQKEKAASLKRDMPKVLHDSSKDSITVFVSNLPYSMQEPDTKLRPLFEACGEVVQIRPIFSNRGDFRGYCY
  VEFKEEKSALQALEMDRKSVEGRPMFVSPCVDKSKNPDFKVFRYSTSLEKHKLFISGLPFSCTKEELEEICKAHG
  TVKDLRLVTNRAGKPKGLAYVEYENESQASQAVMKMDGMTIKENIIKVAISNPPQRKVPEKPETRKAPGGPMLLP
  QTYGARGKGRTQLSLLPRALQRPSAAAPQAENGPAAAPAVAAPAATEAPKMSNADFAKLFLRK

• Structural information:
  • Protein Domains: (704..78-)
    (/note="RRM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (801..87-)
    (/note="RRM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR003107  IPR008669  IPR012677  IPR035979  IPR000504   IPR034217  IPR034218  IPR011990  
  • Prosite: PS50102
  • CDD: cd12391 cd12392
  • PDB: 2DO4 5CTQ 5CTR 5CTT 5JJW 5JJX 5JPZ
  • PDBsum: 2DO4 5CTQ 5CTR 5CTT 5JJW 5JJX 5JPZ
  • STRING: ENSP00000228284
• Other Databases: GeneCards:  SART3  Malacards:  SART3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IBA	biological process
GO:0000398	mRNA splicing, via spliceosome	IBA	biological process
GO:0005654	nucleoplasm	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0008380	RNA splicing	IBA	biological process
GO:0061574	ASAP complex	IBA	cellular component
GO:0000387	spliceosomal snRNP assembly	IDA	biological process
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0005691	U6atac snRNP	IDA	colocalizes with
GO:0071002	U4atac/U6atac snRNP	IDA	NOT|colocalizes with
GO:0030621	U4 snRNA binding	IDA	molecular function
GO:0017070	U6 snRNA binding	IDA	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0017070	U6 snRNA binding	IDA	molecular function
GO:0030621	U4 snRNA binding	IDA	NOT|molecular function
GO:0000387	spliceosomal snRNP assembly	IDA	biological process
GO:0071001	U4/U6 snRNP	IDA	colocalizes with
GO:0030621	U4 snRNA binding	IDA	molecular function
GO:0017070	U6 snRNA binding	IDA	molecular function
GO:0006334	nucleosome assembly	IDA	biological process
GO:0042393	histone binding	IDA	molecular function
GO:0030624	U6atac snRNA binding	IDA	molecular function
GO:0015030	Cajal body	IDA	cellular component
GO:0000244	spliceosomal tri-snRNP complex assembly	IDA	biological process
GO:0046540	U4/U6 x U5 tri-snRNP complex	IDA	NOT|colocalizes with
GO:1903586	positive regulation of histone deubiquitination	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0000244	spliceosomal tri-snRNP complex assembly	IDA	biological process
GO:1990381	ubiquitin-specific protease binding	IPI	molecular function
GO:1990381	ubiquitin-specific protease 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:0006396	RNA processing	IEA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0010468	regulation of gene expression	IDA	biological process
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:0071425	hematopoietic stem cell proliferation	IEA	biological process
GO:0005654	nucleoplasm	IEA	cellular component
GO:0000902	cell morphogenesis	IEA	biological process
GO:0048872	homeostasis of number of cells	IEA	biological process
GO:0015030	Cajal body	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0015030	Cajal body	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Disseminated superficial actinic porokeratosis (DSAP) (1)	KEGG:H00791
Disseminated superficial actinic porokeratosis	KEGG:H00791
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray