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P18583 (SON_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 149. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein SON
Alternative name(s):
Bax antagonist selected in saccharomyces 1
Short name=BASS1
Negative regulatory element-binding protein
Short name=NRE-binding protein
Protein DBP-5
SON3
Gene names
Name:SON
Synonyms:C21orf50, DBP5, KIAA1019, NREBP
ORF Names:HSPC310, HSPC312
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2426 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

RNA-binding protein that acts as a mRNA splicing cofactor by promoting efficient splicing of transcripts that possess weak splice sites. Specifically promotes splicing of many cell-cycle and DNA-repair transcripts that possess weak splice sites, such as TUBG1, KATNB1, TUBGCP2, AURKB, PCNT, AKT1, RAD23A, and FANCG. Probably acts by facilitating the interaction between Serine/arginine-rich proteins such as SRSF2 and the RNA polymerase II. Also binds to DNA; binds to the consensus DNA sequence: 5'-GA[GT]AN[CG][AG]CC-3'. May indirectly repress hepatitis B virus (HBV) core promoter activity and transcription of HBV genes and production of HBV virions. Ref.23 Ref.26

Subunit structure

Interacts with SRSF2. Associates with the spliceosome. Interacts with the AML1-MTG8 (AML1-ETO) fusion protein, possibly leading to trigger signals inhibiting leukemogenesis. Ref.19 Ref.23 Ref.26

Subcellular location

Nucleus speckle. Note: Colocalizes with the pre-mRNA splicing factor SRSF2. Ref.13 Ref.26

Tissue specificity

Widely expressed, with the higher expression seen in leukocyte and heart.

Domain

Contains 8 types of repeats which are distributed in 3 regions.

Sequence similarities

Contains 1 DRBM (double-stranded RNA-binding) domain.

Contains 1 G-patch domain.

Sequence caution

The sequence AAH02422.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

The sequence BAA82971.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence CAA44793.1 differs from that shown. Reason: Frameshift at positions 2315, 2412 and 2417.

The sequence CAC69885.1 differs from that shown. Reason: Contaminating sequence. Sequence of unknown origin in the N-terminal part.

Alternative products

This entry describes 10 isoforms produced by alternative splicing. [Align] [Select]

Note: Experimental confirmation may be lacking for some isoforms.
Isoform F (identifier: P18583-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform A (identifier: P18583-2)

The sequence of this isoform differs from the canonical sequence as follows:
     687-687: V → Q
     688-1006: Missing.
     2410-2426: RNGALTRPNCMFFLNRY → INGSAYQPSFASPNKKHAKATAATVVLQAMGLVPKDLMANATCFRSASRR
Isoform B (identifier: P18583-3)

The sequence of this isoform differs from the canonical sequence as follows:
     2220-2303: PVDISTAMSE...KKDQFLRAAP → GRVKRQGRVR...SRLYSSRFWW
     2304-2426: Missing.
Isoform C (identifier: P18583-4)

The sequence of this isoform differs from the canonical sequence as follows:
     2296-2325: DQFLRAAPVTGGMGAVLMRKMGWREGEGLG → GQILVAVFLPRSVPAVLFTTLLLPRPRISS
     2326-2426: Missing.
Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Isoform D (identifier: P18583-5)

The sequence of this isoform differs from the canonical sequence as follows:
     2410-2426: RNGALTRPNCMFFLNRY → INGSAYQPSFASPNKKHAKATAATVVLQAMGLVPKDLMANATCFRSASRR
Isoform E (identifier: P18583-6)

The sequence of this isoform differs from the canonical sequence as follows:
     2108-2108: K → F
     2109-2426: Missing.
Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Isoform G (identifier: P18583-7)

The sequence of this isoform differs from the canonical sequence as follows:
     748-787: Missing.
Isoform H (identifier: P18583-8)

The sequence of this isoform differs from the canonical sequence as follows:
     687-689: VAQ → NVP
     690-2416: Missing.
Isoform I (identifier: P18583-9)

The sequence of this isoform differs from the canonical sequence as follows:
     770-770: S → SMDSQMLASNTMDSQMLASNTMDSQMLASSTMDSQMLATSS
Isoform J (identifier: P18583-10)

The sequence of this isoform differs from the canonical sequence as follows:
     2257-2282: IDAWAQLNSIPGQFTGSTGVQVLTQE → VCSSFLKKIIIYHQPTHTNVPVLMSK
     2283-2426: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.20
Chain2 – 24262425Protein SON
PRO_0000072037

Regions

Repeat1006 – 101161-1
Repeat1014 – 101961-2
Repeat1021 – 102661-3
Repeat1030 – 103561-4
Repeat1038 – 104361-5
Repeat1046 – 105161-6
Repeat1055 – 106061-7
Repeat1063 – 106861-8
Repeat1071 – 107661-9
Repeat1080 – 108561-10
Repeat1089 – 109461-11
Repeat1100 – 110561-12
Repeat1111 – 111661-13
Repeat1121 – 112661-14
Repeat1925 – 193172-1
Repeat1934 – 1952193-1
Repeat1953 – 195972-2
Repeat1960 – 196672-3
Repeat1967 – 197372-4
Repeat1974 – 198072-5
Repeat1981 – 198772-6
Repeat1988 – 199472-7
Repeat1995 – 2013193-2
Domain2305 – 235147G-patch
Domain2371 – 242656DRBM
Region726 – 89517017 X 10 AA tandem repeats of L-A-[ST]-[NSG]-[TS]-MDSQM
Region912 – 9887711 X 7 AA tandem repeats of [DR]-P-Y-R-[LI][AG][QHP]
Region1006 – 112612114 X 6 AA repeats of [ED]-R-S-M-M-S
Region1147 – 1179333 X 11 AA tandem repats of P-P-L-P-P-E-E-P-P-[TME]-[MTG]
Region1359 – 1390324 X 8 AA tandem repeats of V-L-E-SS-[AVT]-VT
Region1925 – 1994707 X 7 AA repeats of P-S-R-R-S-R-[TS]
Region1934 – 2013802 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V-V-R-R-R-S-F-S-I-S
Region2013 – 2039273 X tandem repeats of [ST]-P-[VLI]-R-[RL]-[RK]-[RF]-S-R

Amino acid modifications

Modified residue21N-acetylalanine Ref.20 Ref.28
Modified residue161N6-acetyllysine Ref.22
Modified residue941Phosphoserine Ref.24
Modified residue1421Phosphoserine Ref.24
Modified residue1521Phosphoserine Ref.18 Ref.21 Ref.24 Ref.27
Modified residue1541Phosphoserine Ref.21 Ref.24 Ref.27
Modified residue1601Phosphoserine Ref.27
Modified residue2831Phosphoserine Ref.21 Ref.24 Ref.27
Modified residue2881N6-acetyllysine Ref.22
Modified residue15561Phosphoserine Ref.18 Ref.21 Ref.27
Modified residue16971Phosphoserine Ref.17 Ref.18 Ref.24 Ref.27
Modified residue17691Phosphoserine Ref.24 Ref.27
Modified residue17831Phosphoserine Ref.18
Modified residue19481Phosphoserine Ref.18
Modified residue19501Phosphoserine Ref.18
Modified residue20091Phosphoserine Ref.24
Modified residue20111Phosphoserine Ref.24 Ref.27
Modified residue20131Phosphoserine Ref.24 Ref.27
Modified residue20551N6-acetyllysine Ref.22
Modified residue21631Phosphothreonine Ref.24

Natural variations

Alternative sequence687 – 6893VAQ → NVP in isoform H.
VSP_004411
Alternative sequence6871V → Q in isoform A.
VSP_004401
Alternative sequence688 – 1006319Missing in isoform A.
VSP_004402
Alternative sequence690 – 24161727Missing in isoform H.
VSP_004412
Alternative sequence748 – 78740Missing in isoform G.
VSP_004410
Alternative sequence7701S → SMDSQMLASNTMDSQMLASN TMDSQMLASSTMDSQMLATS S in isoform I.
VSP_004413
Alternative sequence21081K → F in isoform E.
VSP_004408
Alternative sequence2109 – 2426318Missing in isoform E.
VSP_004409
Alternative sequence2220 – 230384PVDIS…LRAAP → GRVKRQGRVRRQMKQPAASH LTVTRCNSLCGTKPQSEKHR IAENSVITSLPNIGPSLHLW EGSPRYNYLASRFASRLYSS RFWW in isoform B.
VSP_004404
Alternative sequence2257 – 228226IDAWA…VLTQE → VCSSFLKKIIIYHQPTHTNV PVLMSK in isoform J.
VSP_004414
Alternative sequence2283 – 2426144Missing in isoform J.
VSP_004415
Alternative sequence2296 – 232530DQFLR…GEGLG → GQILVAVFLPRSVPAVLFTT LLLPRPRISS in isoform C.
VSP_004406
Alternative sequence2304 – 2426123Missing in isoform B.
VSP_004405
Alternative sequence2326 – 2426101Missing in isoform C.
VSP_004407
Alternative sequence2410 – 242617RNGAL…FLNRY → INGSAYQPSFASPNKKHAKA TAATVVLQAMGLVPKDLMAN ATCFRSASRR in isoform A and isoform D.
VSP_004403
Natural variant4731P → S. Ref.1 Ref.2 Ref.3 Ref.5 Ref.12 Ref.13
Corresponds to variant rs35622138 [ dbSNP | Ensembl ].
VAR_065456
Natural variant5551T → M.
Corresponds to variant rs13049658 [ dbSNP | Ensembl ].
VAR_065457
Natural variant8701T → A.
Corresponds to variant rs11908823 [ dbSNP | Ensembl ].
VAR_056990
Natural variant12021S → L. Ref.1 Ref.2 Ref.3 Ref.12 Ref.13
Corresponds to variant rs13433428 [ dbSNP | Ensembl ].
VAR_065458
Natural variant15751R → C. Ref.2 Ref.3 Ref.8
Corresponds to variant rs13047599 [ dbSNP | Ensembl ].
VAR_056991

Experimental info

Sequence conflict1261E → K in BAB14985. Ref.7
Sequence conflict1291Y → K in BAB14985. Ref.7
Sequence conflict14021Y → S in CAA45282. Ref.12
Sequence conflict14951N → I in CAA45282. Ref.12
Sequence conflict15381N → S in CAA45282. Ref.12
Sequence conflict16431I → II in CAA45282. Ref.12
Sequence conflict16921L → I in CAA45282. Ref.12
Sequence conflict16931A → R in AAA36624. Ref.14
Sequence conflict1820 – 18212SS → PH in CAA45282. Ref.12
Sequence conflict1820 – 18212SS → PH in AAA36624. Ref.14
Sequence conflict19391R → S in AAD50078. Ref.15
Sequence conflict20901E → V in AAK07692. Ref.2
Sequence conflict20901E → V in CAA45282. Ref.12
Sequence conflict21481P → F in AAK07692. Ref.2
Sequence conflict21481P → F in CAA45282. Ref.12
Sequence conflict2413 – 24164ALTR → SPYQ in AAK07692. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform F [UniParc].

Last modified May 18, 2010. Version 4.
Checksum: AE53B1157A37657D

FASTA2,426263,830
        10         20         30         40         50         60 
MATNIEQIFR SFVVSKFREI QQELSSGRNE GQLNGETNTP IEGNQAGDAA ASARSLPNEE 

        70         80         90        100        110        120 
IVQKIEEVLS GVLDTELRYK PDLKEGSRKS RCVSVQTDPT DEIPTKKSKK HKKHKNKKKK 

       130        140        150        160        170        180 
KKKEKEKKYK RQPEESESKT KSHDDGNIDL ESDSFLKFDS EPSAVALELP TRAFGPSETN 

       190        200        210        220        230        240 
ESPAVVLEPP VVSMEVSEPH ILETLKPATK TAELSVVSTS VISEQSEQSV AVMPEPSMTK 

       250        260        270        280        290        300 
ILDSFAAAPV PTTTLVLKSS EPVVTMSVEY QMKSVLKSVE STSPEPSKIM LVEPPVAKVL 

       310        320        330        340        350        360 
EPSETLVVSS ETPTEVYPEP STSTTMDFPE SSAIEALRLP EQPVDVPSEI ADSSMTRPQE 

       370        380        390        400        410        420 
LPELPKTTAL ELQESSVASA MELPGPPATS MPELQGPPVT PVLELPGPSA TPVPELPGPL 

       430        440        450        460        470        480 
STPVPELPGP PATAVPELPG PSVTPVPQLS QELPGLPAPS MGLEPPQEVP EPPVMAQELP 

       490        500        510        520        530        540 
GLPLVTAAVE LPEQPAVTVA MELTEQPVTT TELEQPVGMT TVEHPGHPEV TTATGLLGQP 

       550        560        570        580        590        600 
EATMVLELPG QPVATTALEL PGQPSVTGVP ELPGLPSATR ALELSGQPVA TGALELPGPL 

       610        620        630        640        650        660 
MAAGALEFSG QSGAAGALEL LGQPLATGVL ELPGQPGAPE LPGQPVATVA LEISVQSVVT 

       670        680        690        700        710        720 
TSELSTMTVS QSLEVPSTTA LESYNTVAQE LPTTLVGETS VTVGVDPLMA PESHILASNT 

       730        740        750        760        770        780 
METHILASNT MDSQMLASNT MDSQMLASNT MDSQMLASST MDSQMLATSS MDSQMLATSS 

       790        800        810        820        830        840 
MDSQMLATST MDSQMLATSS MDSQMLATSS MDSQMLATSS MDSQMLATSS MDSQMLATST 

       850        860        870        880        890        900 
MDSQMLATST MDSQMLATSS MDSQMLASGT MDSQMLASGT MDAQMLASGT MDAQMLASST 

       910        920        930        940        950        960 
QDSAMLGSKS PDPYRLAQDP YRLAQDPYRL GHDPYRLGHD AYRLGQDPYR LGHDPYRLTP 

       970        980        990       1000       1010       1020 
DPYRMSPRPY RIAPRSYRIA PRPYRLAPRP LMLASRRSMM MSYAAERSMM SSYERSMMSY 

      1030       1040       1050       1060       1070       1080 
ERSMMSPMAE RSMMSAYERS MMSAYERSMM SPMAERSMMS AYERSMMSAY ERSMMSPMAD 

      1090       1100       1110       1120       1130       1140 
RSMMSMGADR SMMSSYSAAD RSMMSSYSAA DRSMMSSYTA DRSMMSMAAD SYTDSYTDTY 

      1150       1160       1170       1180       1190       1200 
TEAYMVPPLP PEEPPTMPPL PPEEPPMTPP LPPEEPPEGP ALPTEQSALT AENTWPTEVP 

      1210       1220       1230       1240       1250       1260 
SSPSEESVSQ PEPPVSQSEI SEPSAVPTDY SVSASDPSVL VSEAAVTVPE PPPEPESSIT 

      1270       1280       1290       1300       1310       1320 
LTPVESAVVA EEHEVVPERP VTCMVSETPA MSAEPTVLAS EPPVMSETAE TFDSMRASGH 

      1330       1340       1350       1360       1370       1380 
VASEVSTSLL VPAVTTPVLA ESILEPPAMA APESSAMAVL ESSAVTVLES STVTVLESST 

      1390       1400       1410       1420       1430       1440 
VTVLEPSVVT VPEPPVVAEP DYVTIPVPVV SALEPSVPVL EPAVSVLQPS MIVSEPSVSV 

      1450       1460       1470       1480       1490       1500 
QESTVTVSEP AVTVSEQTQV IPTEVAIEST PMILESSIMS SHVMKGINLS SGDQNLAPEI 

      1510       1520       1530       1540       1550       1560 
GMQEIALHSG EEPHAEEHLK GDFYESEHGI NIDLNINNHL IAKEMEHNTV CAAGTSPVGE 

      1570       1580       1590       1600       1610       1620 
IGEEKILPTS ETKQRTVLDT YPGVSEADAG ETLSSTGPFA LEPDATGTSK GIEFTTASTL 

      1630       1640       1650       1660       1670       1680 
SLVNKYDVDL SLTTQDTEHD MVISTSPSGG SEADIEGPLP AKDIHLDLPS NNNLVSKDTE 

      1690       1700       1710       1720       1730       1740 
EPLPVKESDQ TLAALLSPKE SSGGEKEVPP PPKETLPDSG FSANIEDINE ADLVRPLLPK 

      1750       1760       1770       1780       1790       1800 
DMERLTSLRA GIEGPLLASD VGRDRSAASP VVSSMPERAS ESSSEEKDDY EIFVKVKDTH 

      1810       1820       1830       1840       1850       1860 
EKSKKNKNRD KGEKEKKRDS SLRSRSKRSK SSEHKSRKRT SESRSRARKR SSKSKSHRSQ 

      1870       1880       1890       1900       1910       1920 
TRSRSRSRRR RRSSRSRSKS RGRRSVSKEK RKRSPKHRSK SRERKRKRSS SRDNRKTVRA 

      1930       1940       1950       1960       1970       1980 
RSRTPSRRSR SHTPSRRRRS RSVGRRRSFS ISPSRRSRTP SRRSRTPSRR SRTPSRRSRT 

      1990       2000       2010       2020       2030       2040 
PSRRSRTPSR RSRTPSRRRR SRSVVRRRSF SISPVRLRRS RTPLRRRFSR SPIRRKRSRS 

      2050       2060       2070       2080       2090       2100 
SERGRSPKRL TDLDKAQLLE IAKANAAAMC AKAGVPLPPN LKPAPPPTIE EKVAKKSGGA 

      2110       2120       2130       2140       2150       2160 
TIEELTEKCK QIAQSKEDDD VIVNKPHVSD EEEEEPPFYH HPFKLSEPKP IFFNLNIAAA 

      2170       2180       2190       2200       2210       2220 
KPTPPKSQVT LTKEFPVSSG SQHRKKEADS VYGEWVPVEK NGEENKDDDN VFSSNLPSEP 

      2230       2240       2250       2260       2270       2280 
VDISTAMSER ALAQKRLSEN AFDLEAMSML NRAQERIDAW AQLNSIPGQF TGSTGVQVLT 

      2290       2300       2310       2320       2330       2340 
QEQLANTGAQ AWIKKDQFLR AAPVTGGMGA VLMRKMGWRE GEGLGKNKEG NKEPILVDFK 

      2350       2360       2370       2380       2390       2400 
TDRKGLVAVG ERAQKRSGNF SAAMKDLSGK HPVSALMEIC NKRRWQPPEF LLVHDSGPDH 

      2410       2420 
RKHFLFRVLR NGALTRPNCM FFLNRY 

« Hide

Isoform A [UniParc].

Checksum: ADE72D9D269A914D
Show »

FASTA2,140232,307
Isoform B [UniParc].

Checksum: C417A8F16219C1E1
Show »

FASTA2,303250,388
Isoform C [UniParc].

Checksum: DEB57EC4B540649C
Show »

FASTA2,325252,254
Isoform D [UniParc].

Checksum: 1C16840BD08A27F7
Show »

FASTA2,459267,035
Isoform E [UniParc].

Checksum: C1546DDB5FFDBB5E
Show »

FASTA2,108228,181
Isoform G [UniParc].

Checksum: D8DD6D8C39863B51
Show »

FASTA2,386259,594
Isoform H [UniParc].

Checksum: 38D999DC96C00502
Show »

FASTA69973,884
Isoform I [UniParc].

Checksum: 0BCC85FEA1FACFBE
Show »

FASTA2,466268,093
Isoform J [UniParc].

Checksum: E3951A6A0E3C5DED
Show »

FASTA2,282247,823

References

« Hide 'large scale' references
[1]"From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map."
Reymond A., Friedli M., Neergaard Henrichsen C., Chapot F., Deutsch S., Ucla C., Rossier C., Lyle R., Guipponi M., Antonarakis S.E.
Genomics 78:46-54(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A; B; C; D; E AND F), VARIANTS SER-473; SER-473 AND LEU-1202.
[2]"Transcription repression of human hepatitis B virus genes by negative regulatory element-binding protein/SON."
Sun C.-T., Lo W.-Y., Wang I.-H., Lo Y.-H., Shiou S.-R., Lai C.-K., Ting L.-P.
J. Biol. Chem. 276:24059-24067(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM G), VARIANTS SER-473 AND LEU-1202; CYS-1575.
Tissue: Liver.
[3]"Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Kikuno R., Nagase T., Ishikawa K., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 6:197-205(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM B), VARIANTS SER-473 AND LEU-1202; CYS-1575.
Tissue: Brain.
[4]"The DNA sequence of human chromosome 21."
Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A. expand/collapse author list , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT SER-473.
[6]"mRNA 5' region sequence incompleteness: a potential source of systematic errors in translation initiation codon assignment in human mRNAs."
Casadei R., Strippoli P., D'Addabbo P., Canaider S., Lenzi L., Vitale L., Giannone S., Frabetti F., Facchin F., Carinci P., Zannotti M.
Gene 321:185-193(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-689 (ISOFORM H).
Tissue: Placenta.
[7]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-130.
Tissue: Smooth muscle.
[8]"Human partial CDS from CD34+ stem cells."
Ye M., Zhang Q.-H., Zhou J., Shen Y., Wu X.-Y., Guan Z.Q., Wang L., Fan H.-Y., Mao Y.-F., Dai M., Huang Q.-H., Chen S.-J., Chen Z.
Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-114, VARIANT CYS-1575.
Tissue: Umbilical cord blood.
[9]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 544-1903.
Tissue: Brain.
[10]"Identification of a protein product of a novel human gene SON and the biological effect upon administering a changed form of this gene into mammalian cells."
Chumakov I.M., Berdichevskii F.B., Sokolova N.V., Reznikov M.V., Prasolov V.S.
Mol. Biol. (Mosk.) 25:731-740(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 554-2426 (ISOFORM A).
[11]"The human SON gene: the large and small transcripts contains various 5'-terminal sequences."
Bliskovskii V.V., Kirillov A.V., Zakhariev V.M., Chumakov I.M.
Mol. Biol. (Mosk.) 26:807-812(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 709-1079 (ISOFORM I).
Tissue: Placenta.
[12]"Coding part of the son gene small transcript contains four areas of complete tandem repeats."
Bliskovskii V.V., Berdichevskii F.B., Tkachenko A.V., Belova M.E., Chumakov I.M.
Mol. Biol. (Mosk.) 26:793-806(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1009-2426 (ISOFORMS A/D), VARIANTS SER-473 AND LEU-1202.
Tissue: Placenta.
[13]"A cDNA clone for a novel nuclear protein with DNA binding activity."
Mattioni T., Hume C.R., Konigorski S., Hayes P., Osterweil Z., Lee J.S.
Chromosoma 101:618-624(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1145-2426 (ISOFORM F), SUBCELLULAR LOCATION, VARIANTS SER-473 AND LEU-1202.
[14]"Decoding of the primary structure of the son3 region in human genome: identification of a new protein with unusual structure and homology with DNA-binding proteins."
Berdichevskii F.B., Chumakov I.M., Kiselev L.L.
Mol. Biol. (Mosk.) 22:794-801(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1693-2175 (ISOFORM A).
[15]"A selection system for human apoptosis inhibitors using yeast."
Greenhalf W., Lee J., Chaudhuri B.
Yeast 15:1307-1321(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1939-2426 (ISOFORM J).
Tissue: Cerebellum.
[16]"An unappreciated role for RNA surveillance."
Hillman R.T., Green R.E., Brenner S.E.
Genome Biol. 5:R8.1-R8.16(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
[17]"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1697, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[18]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-152; SER-1556; SER-1697; SER-1783; SER-1948 AND SER-1950, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[19]"Disruption of the NHR4 domain structure in AML1-ETO abrogates SON binding and promotes leukemogenesis."
Ahn E.Y., Yan M., Malakhova O.A., Lo M.C., Boyapati A., Ommen H.B., Hines R., Hokland P., Zhang D.E.
Proc. Natl. Acad. Sci. U.S.A. 105:17103-17108(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH AML1-MTG8 FUSION PROTEIN.
[20]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
[21]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-152; SER-154; SER-283 AND SER-1556, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[22]"Lysine acetylation targets protein complexes and co-regulates major cellular functions."
Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-16; LYS-288 AND LYS-2055, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[23]"SON is a spliceosome-associated factor required for mitotic progression."
Huen M.S., Sy S.M., Leung K.M., Ching Y.P., Tipoe G.L., Man C., Dong S., Chen J.
Cell Cycle 9:2679-2685(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH THE SPLICEOSOME.
[24]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-94; SER-142; SER-152; SER-154; SER-283; SER-1697; SER-1769; SER-2009; SER-2011; SER-2013 AND THR-2163, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[25]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[26]"SON controls cell-cycle progression by coordinated regulation of RNA splicing."
Ahn E.Y., Dekelver R.C., Lo M.C., Nguyen T.A., Matsuura S., Boyapati A., Pandit S., Fu X.D., Zhang D.E.
Mol. Cell 42:185-198(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, RNA-BINDING, INTERACTION WITH SRSF2.
[27]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-152; SER-154; SER-160; SER-283; SER-1556; SER-1697; SER-1769; SER-2011 AND SER-2013, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[28]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF380179 mRNA. Translation: AAL34497.1.
AF380180 mRNA. Translation: AAL34498.1.
AF380181 mRNA. Translation: AAL34499.1.
AF380182 mRNA. Translation: AAL34500.1.
AF380183 mRNA. Translation: AAL34501.1.
AF380184 mRNA. Translation: AAL34502.1.
AY026895 mRNA. Translation: AAK07692.1.
AB028942 mRNA. Translation: BAA82971.2. Different initiation.
AP000303 Genomic DNA. No translation available.
AP000304 Genomic DNA. No translation available.
CH471079 Genomic DNA. Translation: EAX09814.1.
CH471079 Genomic DNA. Translation: EAX09818.1.
CH471079 Genomic DNA. Translation: EAX09821.1.
CH471079 Genomic DNA. Translation: EAX09823.1.
AF435977 mRNA. Translation: AAL30810.1.
AK024752 mRNA. Translation: BAB14985.1.
AF161428 mRNA. Translation: AAF28988.1.
AF161430 mRNA. Translation: AAF28990.1.
BC002422 mRNA. Translation: AAH02422.1. Sequence problems.
X63751 mRNA. Translation: CAC69885.1. Sequence problems.
X63753 mRNA. Translation: CAA45282.1.
X63071 mRNA. Translation: CAA44793.1. Frameshift.
M36428 Genomic DNA. Translation: AAA36624.1.
AF139897 mRNA. Translation: AAD50078.1.
CCDSCCDS13629.1. [P18583-1]
CCDS13631.1. [P18583-3]
PIRS26650.
RefSeqNP_001278340.1. NM_001291411.1.
NP_001278341.1. NM_001291412.1.
NP_115571.2. NM_032195.2.
NP_620305.2. NM_138927.2.
XP_006724106.1. XM_006724043.1. [P18583-5]
UniGeneHs.517262.
Hs.656725.

3D structure databases

ProteinModelPortalP18583.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112534. 64 interactions.
DIPDIP-42289N.
IntActP18583. 16 interactions.
MINTMINT-1200716.

Protein family/group databases

TCDB3.A.18.1.1. the nuclear mrna exporter (mrna-e) family.

PTM databases

PhosphoSiteP18583.

Polymorphism databases

DMDM296453022.

Proteomic databases

MaxQBP18583.
PaxDbP18583.
PRIDEP18583.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000290239; ENSP00000290239; ENSG00000159140. [P18583-4]
ENST00000300278; ENSP00000300278; ENSG00000159140. [P18583-3]
ENST00000356577; ENSP00000348984; ENSG00000159140. [P18583-1]
ENST00000381679; ENSP00000371095; ENSG00000159140. [P18583-6]
ENST00000455528; ENSP00000399783; ENSG00000159140. [P18583-4]
GeneID6651.
KEGGhsa:6651.
UCSCuc002ysb.1. human. [P18583-6]
uc002ysc.3. human. [P18583-3]
uc002yse.1. human. [P18583-1]
uc002ysg.3. human. [P18583-10]

Organism-specific databases

CTD6651.
GeneCardsGC21P034914.
H-InvDBHIX0175054.
HIX0175117.
HGNCHGNC:11183. SON.
HPAHPA023535.
HPA031755.
HPA031756.
MIM182465. gene.
neXtProtNX_P18583.
PharmGKBPA36020.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG254690.
HOVERGENHBG023160.
InParanoidP18583.
OMAEIPTKKS.
OrthoDBEOG73NG3J.
PhylomeDBP18583.
TreeFamTF330344.

Gene expression databases

ArrayExpressP18583.
BgeeP18583.
GenevestigatorP18583.

Family and domain databases

Gene3D3.30.160.20. 1 hit.
InterProIPR014720. dsRNA-bd_dom.
IPR000467. G_patch_dom.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamPF01585. G-patch. 1 hit.
[Graphical view]
SMARTSM00443. G_patch. 1 hit.
[Graphical view]
SUPFAMSSF50978. SSF50978. 1 hit.
PROSITEPS50137. DS_RBD. 1 hit.
PS50174. G_PATCH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSON. human.
GeneWikiSON.
GenomeRNAi6651.
NextBio25923.
PROP18583.
SOURCESearch...

Entry information

Entry nameSON_HUMAN
AccessionPrimary (citable) accession number: P18583
Secondary accession number(s): D3DSF5 expand/collapse secondary AC list , D3DSF6, E7ETE8, E7EU67, E7EVW3, E9PFQ2, O14487, O95981, Q14120, Q6PKE0, Q9H7B1, Q9P070, Q9P072, Q9UKP9, Q9UPY0
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1990
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 149 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 21

Human chromosome 21: entries, gene names and cross-references to MIM