• Gene id: 6651

Gene Summary

• Gene Symbol: SON   Gene   UCSC   Ensembl
• Aliases: BASS1, C21orf50, DBP-5, NREBP, SON3, TOKIMS
• Gene name: SON DNA and RNA binding protein
• Alternate names: protein SON, Bax antagonist selected in Saccharomyces 1, NRE-binding protein, SON DNA binding protein, negative regulatory element-binding protein,
• Gene location: 21q22.11 (33543037: 33577513)     Exons: 32     NC_000021.9
• Gene summary(Entrez): This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also recognizes a specific DNA sequence found in the human hep
• OMIM: 182465

Protein Summary

• Protein general information: P18583  
  • Name: Protein SON (Bax antagonist selected in saccharomyces 1) (BASS1) (Negative regulatory element binding protein) (NRE binding protein) (Protein DBP 5) (SON3)
  • Length: 2426  
  • Mass: 263830
  • Tissue specificity: Widely expressed, with the higher expression seen in leukocyte and heart.
• Sequence:

  MATNIEQIFRSFVVSKFREIQQELSSGRNEGQLNGETNTPIEGNQAGDAAASARSLPNEEIVQKIEEVLSGVLDT
  ELRYKPDLKEGSRKSRCVSVQTDPTDEIPTKKSKKHKKHKNKKKKKKKEKEKKYKRQPEESESKTKSHDDGNIDL
  ESDSFLKFDSEPSAVALELPTRAFGPSETNESPAVVLEPPVVSMEVSEPHILETLKPATKTAELSVVSTSVISEQ
  SEQSVAVMPEPSMTKILDSFAAAPVPTTTLVLKSSEPVVTMSVEYQMKSVLKSVESTSPEPSKIMLVEPPVAKVL
  EPSETLVVSSETPTEVYPEPSTSTTMDFPESSAIEALRLPEQPVDVPSEIADSSMTRPQELPELPKTTALELQES
  SVASAMELPGPPATSMPELQGPPVTPVLELPGPSATPVPELPGPLSTPVPELPGPPATAVPELPGPSVTPVPQLS
  QELPGLPAPSMGLEPPQEVPEPPVMAQELPGLPLVTAAVELPEQPAVTVAMELTEQPVTTTELEQPVGMTTVEHP
  GHPEVTTATGLLGQPEATMVLELPGQPVATTALELPGQPSVTGVPELPGLPSATRALELSGQPVATGALELPGPL
  MAAGALEFSGQSGAAGALELLGQPLATGVLELPGQPGAPELPGQPVATVALEISVQSVVTTSELSTMTVSQSLEV
  PSTTALESYNTVAQELPTTLVGETSVTVGVDPLMAPESHILASNTMETHILASNTMDSQMLASNTMDSQMLASNT
  MDSQMLASSTMDSQMLATSSMDSQMLATSSMDSQMLATSTMDSQMLATSSMDSQMLATSSMDSQMLATSSMDSQM
  LATSSMDSQMLATSTMDSQMLATSTMDSQMLATSSMDSQMLASGTMDSQMLASGTMDAQMLASGTMDAQMLASST
  QDSAMLGSKSPDPYRLAQDPYRLAQDPYRLGHDPYRLGHDAYRLGQDPYRLGHDPYRLTPDPYRMSPRPYRIAPR
  SYRIAPRPYRLAPRPLMLASRRSMMMSYAAERSMMSSYERSMMSYERSMMSPMAERSMMSAYERSMMSAYERSMM
  SPMAERSMMSAYERSMMSAYERSMMSPMADRSMMSMGADRSMMSSYSAADRSMMSSYSAADRSMMSSYTADRSMM
  SMAADSYTDSYTDTYTEAYMVPPLPPEEPPTMPPLPPEEPPMTPPLPPEEPPEGPALPTEQSALTAENTWPTEVP
  SSPSEESVSQPEPPVSQSEISEPSAVPTDYSVSASDPSVLVSEAAVTVPEPPPEPESSITLTPVESAVVAEEHEV
  VPERPVTCMVSETPAMSAEPTVLASEPPVMSETAETFDSMRASGHVASEVSTSLLVPAVTTPVLAESILEPPAMA
  APESSAMAVLESSAVTVLESSTVTVLESSTVTVLEPSVVTVPEPPVVAEPDYVTIPVPVVSALEPSVPVLEPAVS
  VLQPSMIVSEPSVSVQESTVTVSEPAVTVSEQTQVIPTEVAIESTPMILESSIMSSHVMKGINLSSGDQNLAPEI
  GMQEIALHSGEEPHAEEHLKGDFYESEHGINIDLNINNHLIAKEMEHNTVCAAGTSPVGEIGEEKILPTSETKQR
  TVLDTYPGVSEADAGETLSSTGPFALEPDATGTSKGIEFTTASTLSLVNKYDVDLSLTTQDTEHDMVISTSPSGG
  SEADIEGPLPAKDIHLDLPSNNNLVSKDTEEPLPVKESDQTLAALLSPKESSGGEKEVPPPPKETLPDSGFSANI
  EDINEADLVRPLLPKDMERLTSLRAGIEGPLLASDVGRDRSAASPVVSSMPERASESSSEEKDDYEIFVKVKDTH
  EKSKKNKNRDKGEKEKKRDSSLRSRSKRSKSSEHKSRKRTSESRSRARKRSSKSKSHRSQTRSRSRSRRRRRSSR
  SRSKSRGRRSVSKEKRKRSPKHRSKSRERKRKRSSSRDNRKTVRARSRTPSRRSRSHTPSRRRRSRSVGRRRSFS
  ISPSRRSRTPSRRSRTPSRRSRTPSRRSRTPSRRSRTPSRRSRTPSRRRRSRSVVRRRSFSISPVRLRRSRTPLR
  RRFSRSPIRRKRSRSSERGRSPKRLTDLDKAQLLEIAKANAAAMCAKAGVPLPPNLKPAPPPTIEEKVAKKSGGA
  TIEELTEKCKQIAQSKEDDDVIVNKPHVSDEEEEEPPFYHHPFKLSEPKPIFFNLNIAAAKPTPPKSQVTLTKEF
  PVSSGSQHRKKEADSVYGEWVPVEKNGEENKDDDNVFSSNLPSEPVDISTAMSERALAQKRLSENAFDLEAMSML
  NRAQERIDAWAQLNSIPGQFTGSTGVQVLTQEQLANTGAQAWIKKDQFLRAAPVTGGMGAVLMRKMGWREGEGLG
  KNKEGNKEPILVDFKTDRKGLVAVGERAQKRSGNFSAAMKDLSGKHPVSALMEICNKRRWQPPEFLLVHDSGPDH
  RKHFLFRVLRNGALTRPNCMFFLNRY

• Structural information:
  • Protein Domains: (2305..235-)
    (/note="G-patch-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00092-)
    (2371..242-)
    (/note="DRBM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00266"-)
  • Interpro: IPR014720  IPR000467  IPR032922  IPR036322  
  • Prosite: PS50137 PS50174
  • CDD: cd00048
  • DIP: 42289
  • STRING: ENSP00000348984
• Other Databases: GeneCards:  SON  Malacards:  SON

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048024	regulation of mRNA splicing, via spliceosome	IBA	biological process
GO:0003723	RNA binding	IBA	molecular function
GO:0006397	mRNA processing	IBA	biological process
GO:0048024	regulation of mRNA splicing, via spliceosome	IDA	biological process
GO:0016607	nuclear speck	IDA	cellular component
GO:0006397	mRNA processing	IDA	biological process
GO:0003723	RNA binding	IDA	molecular function
GO:0051726	regulation of cell cycle	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000281	mitotic cytokinesis	IMP	biological process
GO:0000226	microtubule cytoskeleton organization	IMP	biological process
GO:0043484	regulation of RNA splicing	IMP	biological process
GO:0051726	regulation of cell cycle	IEA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0043484	regulation of RNA splicing	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0050733	RS domain binding	IEA	molecular function
GO:0016607	nuclear speck	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
ZTTK syndrome	KEGG:H01769
ZTTK syndrome	KEGG:H01769
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881