SON

Protein identityUniProt · HPA

UniProt accession

P18583

Gene

SON

Ensembl

ENSG00000159140

Chromosome

21

Canonical length

2426 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Transporters

Subcellular location

Nuclear speckles

OverviewNCBI Gene

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 hepatitis B virus (HBV) and represses HBV core promoter activity. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Canonical amino-acid sequenceUniProt

2426 residues, UniProt reviewed canonical sequence.

>P18583|SON
     1  MATNIEQIFR SFVVSKFREI QQELSSGRNE GQLNGETNTP IEGNQAGDAA ASARSLPNEE
    61  IVQKIEEVLS GVLDTELRYK PDLKEGSRKS RCVSVQTDPT DEIPTKKSKK HKKHKNKKKK
   121  KKKEKEKKYK RQPEESESKT KSHDDGNIDL ESDSFLKFDS EPSAVALELP TRAFGPSETN
   181  ESPAVVLEPP VVSMEVSEPH ILETLKPATK TAELSVVSTS VISEQSEQSV AVMPEPSMTK
   241  ILDSFAAAPV PTTTLVLKSS EPVVTMSVEY QMKSVLKSVE STSPEPSKIM LVEPPVAKVL
   301  EPSETLVVSS ETPTEVYPEP STSTTMDFPE SSAIEALRLP EQPVDVPSEI ADSSMTRPQE
   361  LPELPKTTAL ELQESSVASA MELPGPPATS MPELQGPPVT PVLELPGPSA TPVPELPGPL
   421  STPVPELPGP PATAVPELPG PSVTPVPQLS QELPGLPAPS MGLEPPQEVP EPPVMAQELP
   481  GLPLVTAAVE LPEQPAVTVA MELTEQPVTT TELEQPVGMT TVEHPGHPEV TTATGLLGQP
   541  EATMVLELPG QPVATTALEL PGQPSVTGVP ELPGLPSATR ALELSGQPVA TGALELPGPL
   601  MAAGALEFSG QSGAAGALEL LGQPLATGVL ELPGQPGAPE LPGQPVATVA LEISVQSVVT
   661  TSELSTMTVS QSLEVPSTTA LESYNTVAQE LPTTLVGETS VTVGVDPLMA PESHILASNT
   721  METHILASNT MDSQMLASNT MDSQMLASNT MDSQMLASST MDSQMLATSS MDSQMLATSS
   781  MDSQMLATST MDSQMLATSS MDSQMLATSS MDSQMLATSS MDSQMLATSS MDSQMLATST
   841  MDSQMLATST MDSQMLATSS MDSQMLASGT MDSQMLASGT MDAQMLASGT MDAQMLASST
   901  QDSAMLGSKS PDPYRLAQDP YRLAQDPYRL GHDPYRLGHD AYRLGQDPYR LGHDPYRLTP
   961  DPYRMSPRPY RIAPRSYRIA PRPYRLAPRP LMLASRRSMM MSYAAERSMM SSYERSMMSY
  1021  ERSMMSPMAE RSMMSAYERS MMSAYERSMM SPMAERSMMS AYERSMMSAY ERSMMSPMAD
  1081  RSMMSMGADR SMMSSYSAAD RSMMSSYSAA DRSMMSSYTA DRSMMSMAAD SYTDSYTDTY
  1141  TEAYMVPPLP PEEPPTMPPL PPEEPPMTPP LPPEEPPEGP ALPTEQSALT AENTWPTEVP
  1201  SSPSEESVSQ PEPPVSQSEI SEPSAVPTDY SVSASDPSVL VSEAAVTVPE PPPEPESSIT
  1261  LTPVESAVVA EEHEVVPERP VTCMVSETPA MSAEPTVLAS EPPVMSETAE TFDSMRASGH
  1321  VASEVSTSLL VPAVTTPVLA ESILEPPAMA APESSAMAVL ESSAVTVLES STVTVLESST
  1381  VTVLEPSVVT VPEPPVVAEP DYVTIPVPVV SALEPSVPVL EPAVSVLQPS MIVSEPSVSV
  1441  QESTVTVSEP AVTVSEQTQV IPTEVAIEST PMILESSIMS SHVMKGINLS SGDQNLAPEI
  1501  GMQEIALHSG EEPHAEEHLK GDFYESEHGI NIDLNINNHL IAKEMEHNTV CAAGTSPVGE
  1561  IGEEKILPTS ETKQRTVLDT YPGVSEADAG ETLSSTGPFA LEPDATGTSK GIEFTTASTL
  1621  SLVNKYDVDL SLTTQDTEHD MVISTSPSGG SEADIEGPLP AKDIHLDLPS NNNLVSKDTE
  1681  EPLPVKESDQ TLAALLSPKE SSGGEKEVPP PPKETLPDSG FSANIEDINE ADLVRPLLPK
  1741  DMERLTSLRA GIEGPLLASD VGRDRSAASP VVSSMPERAS ESSSEEKDDY EIFVKVKDTH
  1801  EKSKKNKNRD KGEKEKKRDS SLRSRSKRSK SSEHKSRKRT SESRSRARKR SSKSKSHRSQ
  1861  TRSRSRSRRR RRSSRSRSKS RGRRSVSKEK RKRSPKHRSK SRERKRKRSS SRDNRKTVRA
  1921  RSRTPSRRSR SHTPSRRRRS RSVGRRRSFS ISPSRRSRTP SRRSRTPSRR SRTPSRRSRT
  1981  PSRRSRTPSR RSRTPSRRRR SRSVVRRRSF SISPVRLRRS RTPLRRRFSR SPIRRKRSRS
  2041  SERGRSPKRL TDLDKAQLLE IAKANAAAMC AKAGVPLPPN LKPAPPPTIE EKVAKKSGGA
  2101  TIEELTEKCK QIAQSKEDDD VIVNKPHVSD EEEEEPPFYH HPFKLSEPKP IFFNLNIAAA
  2161  KPTPPKSQVT LTKEFPVSSG SQHRKKEADS VYGEWVPVEK NGEENKDDDN VFSSNLPSEP
  2221  VDISTAMSER ALAQKRLSEN AFDLEAMSML NRAQERIDAW AQLNSIPGQF TGSTGVQVLT
  2281  QEQLANTGAQ AWIKKDQFLR AAPVTGGMGA VLMRKMGWRE GEGLGKNKEG NKEPILVDFK
  2341  TDRKGLVAVG ERAQKRSGNF SAAMKDLSGK HPVSALMEIC NKRRWQPPEF LLVHDSGPDH
  2401  RKHFLFRVLR NGALTRPNCM FFLNRY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SON can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.58

Highest tissue expression

153 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SON.

Disease | AllUniProt

Conditions SON is implicated in, by any mechanism.

• ZTTK syndrome (ZTTKS) MIM:617140

Disease | GeneticClinVar

152 pathogenic / likely-pathogenic of 1,777 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• ZTTK syndrome
• Inborn genetic diseases
• Global developmental delay
• Failure to thrive
• SON-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.12

gnomAD pLI

1

gnomAD missense Z

1.54

DepMap mean gene effect

-1.07

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• microtubule cytoskeleton organization
• mitotic cytokinesis
• mRNA processing
• negative regulation of apoptotic process
• regulation of cell cycle
• regulation of mRNA splicing, via spliceosome
• regulation of RNA splicing
• RNA splicing

Molecular functions

• DNA binding
• RNA binding

Cellular components

• nuclear speck

Protein domainsUniProt · Pfam · InterPro

• G-patch domain
• Double-stranded RNA-binding domain
• WD40-repeat-containing domain superfamily
• G-patch domain
• double strand RNA binding domain from DEAD END PROTEIN 1
• Arginine/Serine-Rich protein 1

KeywordsUniProt

• Acetylation
• Cell cycle
• DNA-binding
• Intellectual disability
• Isopeptide bond
• Methylation
• mRNA processing
• mRNA splicing
• Nucleus
• Phosphoprotein
• Repeat
• RNA-binding
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of SON in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• SRSF2
• USH1G
• CPSF6
• DDX21
• RBM39
• SF3B1
• YWHAG