UniProtKB - P18583 (SON_HUMAN)
Protein SON
SON
Functioni
GO - Molecular functioni
- DNA binding Source: UniProtKB-KW
- RNA binding Source: UniProtKB
- RS domain binding Source: Ensembl
GO - Biological processi
- microtubule cytoskeleton organization Source: UniProtKB
- mitotic cytokinesis Source: UniProtKB
- mRNA processing Source: UniProtKB
- negative regulation of apoptotic process Source: UniProtKB
- regulation of cell cycle Source: UniProtKB
- regulation of mRNA splicing, via spliceosome Source: UniProtKB
- regulation of RNA splicing Source: UniProtKB
- RNA splicing Source: UniProtKB-KW
Keywordsi
Molecular function | DNA-binding, RNA-binding |
Biological process | Cell cycle, mRNA processing, mRNA splicing |
Enzyme and pathway databases
PathwayCommonsi | P18583 |
SIGNORi | P18583 |
Protein family/group databases
TCDBi | 3.A.18.1.1, the nuclear mrna exporter (mrna-e) family |
Names & Taxonomyi
Protein namesi | Recommended name: Protein SONAlternative 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 namesi | Name:SON Synonyms:C21orf50, DBP5, KIAA1019, NREBP ORF Names:HSPC310, HSPC312 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000159140.17 |
HGNCi | HGNC:11183, SON |
MIMi | 182465, gene |
neXtProti | NX_P18583 |
Subcellular locationi
Nucleus
- Nucleus speckle 2 Publications
Note: Colocalizes with the pre-mRNA splicing factor SRSF2.
Nucleus
- nuclear speck Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
ZTTK syndrome (ZTTKS)4 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077864 | 1637 | T → S in ZTTKS; unknown pathological significance; de novo mutation associated in cis with Y-1843. 1 Publication | 1 | |
Natural variantiVAR_077865 | 1843 | S → Y in ZTTKS; unknown pathological significance; de novo mutation associated in cis with S-1637. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, Mental retardationOrganism-specific databases
DisGeNETi | 6651 |
MalaCardsi | SON |
MIMi | 617140, phenotype |
OpenTargetsi | ENSG00000159140 |
Orphaneti | 500150, Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome |
PharmGKBi | PA36020 |
Miscellaneous databases
Pharosi | P18583, Tbio |
Polymorphism and mutation databases
BioMutai | SON |
DMDMi | 296453022 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000072037 | 2 – 2426 | Protein SONAdd BLAST | 2425 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources | 1 | |
Modified residuei | 16 | N6-acetyllysineCombined sources | 1 | |
Cross-linki | 64 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 94 | PhosphoserineCombined sources | 1 | |
Modified residuei | 142 | PhosphoserineCombined sources | 1 | |
Modified residuei | 152 | PhosphoserineCombined sources | 1 | |
Modified residuei | 154 | PhosphoserineCombined sources | 1 | |
Modified residuei | 160 | PhosphoserineCombined sources | 1 | |
Modified residuei | 283 | PhosphoserineCombined sources | 1 | |
Modified residuei | 288 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 400 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 950 | Omega-N-methylarginineCombined sources | 1 | |
Modified residuei | 959 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 998 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1007 | Asymmetric dimethylarginineBy similarity | 1 | |
Modified residuei | 1022 | Asymmetric dimethylarginineBy similarity | 1 | |
Modified residuei | 1035 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1043 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1060 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1068 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1082 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1556 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1651 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1697 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1701 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1747 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1759 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1766 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1769 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1782 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1783 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1948 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1950 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1952 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2009 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2011 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2013 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2029 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2031 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2055 | N6-acetyllysine; alternateCombined sources | 1 | |
Cross-linki | 2055 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources | ||
Cross-linki | 2092 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 2129 | PhosphoserineCombined sources | 1 | |
Cross-linki | 2149 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 2163 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 2238 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | P18583 |
jPOSTi | P18583 |
MassIVEi | P18583 |
MaxQBi | P18583 |
PaxDbi | P18583 |
PeptideAtlasi | P18583 |
PRIDEi | P18583 |
ProteomicsDBi | 53592 [P18583-1] 53593 [P18583-10] 53594 [P18583-2] 53595 [P18583-3] 53596 [P18583-4] 53597 [P18583-5] 53598 [P18583-6] 53599 [P18583-7] 53600 [P18583-8] 53601 [P18583-9] |
PTM databases
GlyConnecti | 2861, 1 O-Linked glycan (2 sites) [P18583-1] |
GlyGeni | P18583, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | P18583 |
PhosphoSitePlusi | P18583 |
SwissPalmi | P18583 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000159140, Expressed in metanephros and 255 other tissues |
ExpressionAtlasi | P18583, baseline and differential |
Genevisiblei | P18583, HS |
Organism-specific databases
HPAi | ENSG00000159140, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with SRSF2. Associates with the spliceosome.
Interacts with the AML1-MTG8 (AML1-ETO) fusion protein, possibly leading to trigger signals inhibiting leukemogenesis.
3 PublicationsGO - Molecular functioni
- RS domain binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 112534, 101 interactors |
DIPi | DIP-42289N |
IntActi | P18583, 39 interactors |
MINTi | P18583 |
STRINGi | 9606.ENSP00000348984 |
Miscellaneous databases
RNActi | P18583, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 1006 – 1011 | 1-1 | 6 | |
Repeati | 1014 – 1019 | 1-2 | 6 | |
Repeati | 1021 – 1026 | 1-3 | 6 | |
Repeati | 1030 – 1035 | 1-4 | 6 | |
Repeati | 1038 – 1043 | 1-5 | 6 | |
Repeati | 1046 – 1051 | 1-6 | 6 | |
Repeati | 1055 – 1060 | 1-7 | 6 | |
Repeati | 1063 – 1068 | 1-8 | 6 | |
Repeati | 1071 – 1076 | 1-9 | 6 | |
Repeati | 1080 – 1085 | 1-10 | 6 | |
Repeati | 1089 – 1094 | 1-11 | 6 | |
Repeati | 1100 – 1105 | 1-12 | 6 | |
Repeati | 1111 – 1116 | 1-13 | 6 | |
Repeati | 1121 – 1126 | 1-14 | 6 | |
Repeati | 1925 – 1931 | 2-1 | 7 | |
Repeati | 1934 – 1952 | 3-1Add BLAST | 19 | |
Repeati | 1953 – 1959 | 2-2 | 7 | |
Repeati | 1960 – 1966 | 2-3 | 7 | |
Repeati | 1967 – 1973 | 2-4 | 7 | |
Repeati | 1974 – 1980 | 2-5 | 7 | |
Repeati | 1981 – 1987 | 2-6 | 7 | |
Repeati | 1988 – 1994 | 2-7 | 7 | |
Repeati | 1995 – 2013 | 3-2Add BLAST | 19 | |
Domaini | 2305 – 2351 | G-patchPROSITE-ProRule annotationAdd BLAST | 47 | |
Domaini | 2371 – 2426 | DRBMPROSITE-ProRule annotationAdd BLAST | 56 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 726 – 895 | 17 X 10 AA tandem repeats of L-A-[ST]-[NSG]-[TS]-MDSQMAdd BLAST | 170 | |
Regioni | 912 – 988 | 11 X 7 AA tandem repeats of [DR]-P-Y-R-[LI][AG][QHP]Add BLAST | 77 | |
Regioni | 1006 – 1126 | 14 X 6 AA repeats of [ED]-R-S-M-M-SAdd BLAST | 121 | |
Regioni | 1147 – 1179 | 3 X 11 AA tandem repats of P-P-L-P-P-E-E-P-P-[TME]-[MTG]Add BLAST | 33 | |
Regioni | 1359 – 1390 | 4 X 8 AA tandem repeats of V-L-E-SS-[AVT]-VTAdd BLAST | 32 | |
Regioni | 1925 – 1994 | 7 X 7 AA repeats of P-S-R-R-S-R-[TS]Add BLAST | 70 | |
Regioni | 1934 – 2013 | 2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V-V-R-R-R-S-F-S-I-SAdd BLAST | 80 | |
Regioni | 2013 – 2039 | 3 X tandem repeats of [ST]-P-[VLI]-R-[RL]-[RK]-[RF]-S-RAdd BLAST | 27 |
Domaini
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | ENOG502QPQ7, Eukaryota |
GeneTreei | ENSGT00730000111141 |
HOGENOMi | CLU_230016_0_0_1 |
InParanoidi | P18583 |
OMAi | LTPNCMF |
OrthoDBi | 30934at2759 |
PhylomeDBi | P18583 |
TreeFami | TF330344 |
Family and domain databases
CDDi | cd00048, DSRM, 1 hit |
InterProi | View protein in InterPro IPR014720, dsRBD_dom IPR000467, G_patch_dom IPR032922, SON IPR036322, WD40_repeat_dom_sf |
PANTHERi | PTHR46528, PTHR46528, 2 hits |
Pfami | View protein in Pfam PF01585, G-patch, 1 hit |
SMARTi | View protein in SMART SM00443, G_patch, 1 hit |
SUPFAMi | SSF50978, SSF50978, 1 hit |
PROSITEi | View protein in PROSITE PS50137, DS_RBD, 1 hit PS50174, G_PATCH, 1 hit |
s (10+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 10 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 10 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MATNIEQIFR SFVVSKFREI QQELSSGRNE GQLNGETNTP IEGNQAGDAA
60 70 80 90 100
ASARSLPNEE IVQKIEEVLS GVLDTELRYK PDLKEGSRKS RCVSVQTDPT
110 120 130 140 150
DEIPTKKSKK HKKHKNKKKK KKKEKEKKYK RQPEESESKT KSHDDGNIDL
160 170 180 190 200
ESDSFLKFDS EPSAVALELP TRAFGPSETN ESPAVVLEPP VVSMEVSEPH
210 220 230 240 250
ILETLKPATK TAELSVVSTS VISEQSEQSV AVMPEPSMTK ILDSFAAAPV
260 270 280 290 300
PTTTLVLKSS EPVVTMSVEY QMKSVLKSVE STSPEPSKIM LVEPPVAKVL
310 320 330 340 350
EPSETLVVSS ETPTEVYPEP STSTTMDFPE SSAIEALRLP EQPVDVPSEI
360 370 380 390 400
ADSSMTRPQE LPELPKTTAL ELQESSVASA MELPGPPATS MPELQGPPVT
410 420 430 440 450
PVLELPGPSA TPVPELPGPL STPVPELPGP PATAVPELPG PSVTPVPQLS
460 470 480 490 500
QELPGLPAPS MGLEPPQEVP EPPVMAQELP GLPLVTAAVE LPEQPAVTVA
510 520 530 540 550
MELTEQPVTT TELEQPVGMT TVEHPGHPEV TTATGLLGQP EATMVLELPG
560 570 580 590 600
QPVATTALEL PGQPSVTGVP ELPGLPSATR ALELSGQPVA TGALELPGPL
610 620 630 640 650
MAAGALEFSG QSGAAGALEL LGQPLATGVL ELPGQPGAPE LPGQPVATVA
660 670 680 690 700
LEISVQSVVT TSELSTMTVS QSLEVPSTTA LESYNTVAQE LPTTLVGETS
710 720 730 740 750
VTVGVDPLMA PESHILASNT METHILASNT MDSQMLASNT MDSQMLASNT
760 770 780 790 800
MDSQMLASST MDSQMLATSS MDSQMLATSS MDSQMLATST MDSQMLATSS
810 820 830 840 850
MDSQMLATSS MDSQMLATSS MDSQMLATSS MDSQMLATST MDSQMLATST
860 870 880 890 900
MDSQMLATSS MDSQMLASGT MDSQMLASGT MDAQMLASGT MDAQMLASST
910 920 930 940 950
QDSAMLGSKS PDPYRLAQDP YRLAQDPYRL GHDPYRLGHD AYRLGQDPYR
960 970 980 990 1000
LGHDPYRLTP DPYRMSPRPY RIAPRSYRIA PRPYRLAPRP LMLASRRSMM
1010 1020 1030 1040 1050
MSYAAERSMM SSYERSMMSY ERSMMSPMAE RSMMSAYERS MMSAYERSMM
1060 1070 1080 1090 1100
SPMAERSMMS AYERSMMSAY ERSMMSPMAD RSMMSMGADR SMMSSYSAAD
1110 1120 1130 1140 1150
RSMMSSYSAA DRSMMSSYTA DRSMMSMAAD SYTDSYTDTY TEAYMVPPLP
1160 1170 1180 1190 1200
PEEPPTMPPL PPEEPPMTPP LPPEEPPEGP ALPTEQSALT AENTWPTEVP
1210 1220 1230 1240 1250
SSPSEESVSQ PEPPVSQSEI SEPSAVPTDY SVSASDPSVL VSEAAVTVPE
1260 1270 1280 1290 1300
PPPEPESSIT LTPVESAVVA EEHEVVPERP VTCMVSETPA MSAEPTVLAS
1310 1320 1330 1340 1350
EPPVMSETAE TFDSMRASGH VASEVSTSLL VPAVTTPVLA ESILEPPAMA
1360 1370 1380 1390 1400
APESSAMAVL ESSAVTVLES STVTVLESST VTVLEPSVVT VPEPPVVAEP
1410 1420 1430 1440 1450
DYVTIPVPVV SALEPSVPVL EPAVSVLQPS MIVSEPSVSV QESTVTVSEP
1460 1470 1480 1490 1500
AVTVSEQTQV IPTEVAIEST PMILESSIMS SHVMKGINLS SGDQNLAPEI
1510 1520 1530 1540 1550
GMQEIALHSG EEPHAEEHLK GDFYESEHGI NIDLNINNHL IAKEMEHNTV
1560 1570 1580 1590 1600
CAAGTSPVGE IGEEKILPTS ETKQRTVLDT YPGVSEADAG ETLSSTGPFA
1610 1620 1630 1640 1650
LEPDATGTSK GIEFTTASTL SLVNKYDVDL SLTTQDTEHD MVISTSPSGG
1660 1670 1680 1690 1700
SEADIEGPLP AKDIHLDLPS NNNLVSKDTE EPLPVKESDQ TLAALLSPKE
1710 1720 1730 1740 1750
SSGGEKEVPP PPKETLPDSG FSANIEDINE ADLVRPLLPK DMERLTSLRA
1760 1770 1780 1790 1800
GIEGPLLASD VGRDRSAASP VVSSMPERAS ESSSEEKDDY EIFVKVKDTH
1810 1820 1830 1840 1850
EKSKKNKNRD KGEKEKKRDS SLRSRSKRSK SSEHKSRKRT SESRSRARKR
1860 1870 1880 1890 1900
SSKSKSHRSQ TRSRSRSRRR RRSSRSRSKS RGRRSVSKEK RKRSPKHRSK
1910 1920 1930 1940 1950
SRERKRKRSS SRDNRKTVRA RSRTPSRRSR SHTPSRRRRS RSVGRRRSFS
1960 1970 1980 1990 2000
ISPSRRSRTP SRRSRTPSRR SRTPSRRSRT PSRRSRTPSR RSRTPSRRRR
2010 2020 2030 2040 2050
SRSVVRRRSF SISPVRLRRS RTPLRRRFSR SPIRRKRSRS SERGRSPKRL
2060 2070 2080 2090 2100
TDLDKAQLLE IAKANAAAMC AKAGVPLPPN LKPAPPPTIE EKVAKKSGGA
2110 2120 2130 2140 2150
TIEELTEKCK QIAQSKEDDD VIVNKPHVSD EEEEEPPFYH HPFKLSEPKP
2160 2170 2180 2190 2200
IFFNLNIAAA KPTPPKSQVT LTKEFPVSSG SQHRKKEADS VYGEWVPVEK
2210 2220 2230 2240 2250
NGEENKDDDN VFSSNLPSEP VDISTAMSER ALAQKRLSEN AFDLEAMSML
2260 2270 2280 2290 2300
NRAQERIDAW AQLNSIPGQF TGSTGVQVLT QEQLANTGAQ AWIKKDQFLR
2310 2320 2330 2340 2350
AAPVTGGMGA VLMRKMGWRE GEGLGKNKEG NKEPILVDFK TDRKGLVAVG
2360 2370 2380 2390 2400
ERAQKRSGNF SAAMKDLSGK HPVSALMEIC NKRRWQPPEF LLVHDSGPDH
2410 2420
RKHFLFRVLR NGALTRPNCM FFLNRY
The sequence of this isoform differs from the canonical sequence as follows:
2296-2325: DQFLRAAPVTGGMGAVLMRKMGWREGEGLG → GQILVAVFLPRSVPAVLFTTLLLPRPRISS
2326-2426: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
2108-2108: K → F
2109-2426: Missing.
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH7C1M2 | H7C1M2_HUMAN | Protein SON | SON | 1,454 | Annotation score: | ||
J3QSZ5 | J3QSZ5_HUMAN | Protein SON | SON | 454 | Annotation score: | ||
H7C2G8 | H7C2G8_HUMAN | Protein SON | SON | 343 | Annotation score: | ||
H7C257 | H7C257_HUMAN | Protein SON | SON | 97 | Annotation score: | ||
H7C1S4 | H7C1S4_HUMAN | Protein SON | SON | 92 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 126 | E → K in BAB14985 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 129 | Y → K in BAB14985 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 1402 | Y → S in CAA45282 (PubMed:1435773).Curated | 1 | |
Sequence conflicti | 1495 | N → I in CAA45282 (PubMed:1435773).Curated | 1 | |
Sequence conflicti | 1538 | N → S in CAA45282 (PubMed:1435773).Curated | 1 | |
Sequence conflicti | 1643 | I → II in CAA45282 (PubMed:1435773).Curated | 1 | |
Sequence conflicti | 1692 | L → I in CAA45282 (PubMed:1435773).Curated | 1 | |
Sequence conflicti | 1693 | A → R in AAA36624 (PubMed:3054499).Curated | 1 | |
Sequence conflicti | 1820 – 1821 | SS → PH in CAA45282 (PubMed:1435773).Curated | 2 | |
Sequence conflicti | 1820 – 1821 | SS → PH in AAA36624 (PubMed:3054499).Curated | 2 | |
Sequence conflicti | 1939 | R → S in AAD50078 (PubMed:10509013).Curated | 1 | |
Sequence conflicti | 2090 | E → V in AAK07692 (PubMed:11306577).Curated | 1 | |
Sequence conflicti | 2090 | E → V in CAA45282 (PubMed:1435773).Curated | 1 | |
Sequence conflicti | 2148 | P → F in AAK07692 (PubMed:11306577).Curated | 1 | |
Sequence conflicti | 2148 | P → F in CAA45282 (PubMed:1435773).Curated | 1 | |
Sequence conflicti | 2413 – 2416 | ALTR → SPYQ in AAK07692 (PubMed:11306577).Curated | 4 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_065456 | 473 | P → S6 PublicationsCorresponds to variant dbSNP:rs35622138Ensembl. | 1 | |
Natural variantiVAR_065457 | 555 | T → M. Corresponds to variant dbSNP:rs13049658EnsemblClinVar. | 1 | |
Natural variantiVAR_056990 | 870 | T → A. Corresponds to variant dbSNP:rs11908823Ensembl. | 1 | |
Natural variantiVAR_065458 | 1202 | S → L5 PublicationsCorresponds to variant dbSNP:rs13433428Ensembl. | 1 | |
Natural variantiVAR_056991 | 1575 | R → C3 PublicationsCorresponds to variant dbSNP:rs13047599Ensembl. | 1 | |
Natural variantiVAR_077864 | 1637 | T → S in ZTTKS; unknown pathological significance; de novo mutation associated in cis with Y-1843. 1 Publication | 1 | |
Natural variantiVAR_077865 | 1843 | S → Y in ZTTKS; unknown pathological significance; de novo mutation associated in cis with S-1637. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_004411 | 687 – 689 | VAQ → NVP in isoform H. 1 Publication | 3 | |
Alternative sequenceiVSP_004401 | 687 | V → Q in isoform A. 3 Publications | 1 | |
Alternative sequenceiVSP_004402 | 688 – 1006 | Missing in isoform A. 3 PublicationsAdd BLAST | 319 | |
Alternative sequenceiVSP_004412 | 690 – 2416 | Missing in isoform H. 1 PublicationAdd BLAST | 1727 | |
Alternative sequenceiVSP_004410 | 748 – 787 | Missing in isoform G. 1 PublicationAdd BLAST | 40 | |
Alternative sequenceiVSP_004413 | 770 | S → SMDSQMLASNTMDSQMLASN TMDSQMLASSTMDSQMLATS S in isoform I. 1 Publication | 1 | |
Alternative sequenceiVSP_004408 | 2108 | K → F in isoform E. 1 Publication | 1 | |
Alternative sequenceiVSP_004409 | 2109 – 2426 | Missing in isoform E. 1 PublicationAdd BLAST | 318 | |
Alternative sequenceiVSP_004404 | 2220 – 2303 | PVDIS…LRAAP → GRVKRQGRVRRQMKQPAASH LTVTRCNSLCGTKPQSEKHR IAENSVITSLPNIGPSLHLW EGSPRYNYLASRFASRLYSS RFWW in isoform B. 2 PublicationsAdd BLAST | 84 | |
Alternative sequenceiVSP_004414 | 2257 – 2282 | IDAWA…VLTQE → VCSSFLKKIIIYHQPTHTNV PVLMSK in isoform J. 1 PublicationAdd BLAST | 26 | |
Alternative sequenceiVSP_004415 | 2283 – 2426 | Missing in isoform J. 1 PublicationAdd BLAST | 144 | |
Alternative sequenceiVSP_004406 | 2296 – 2325 | DQFLR…GEGLG → GQILVAVFLPRSVPAVLFTT LLLPRPRISS in isoform C. 1 PublicationAdd BLAST | 30 | |
Alternative sequenceiVSP_004405 | 2304 – 2426 | Missing in isoform B. 2 PublicationsAdd BLAST | 123 | |
Alternative sequenceiVSP_004407 | 2326 – 2426 | Missing in isoform C. 1 PublicationAdd BLAST | 101 | |
Alternative sequenceiVSP_004403 | 2410 – 2426 | RNGAL…FLNRY → INGSAYQPSFASPNKKHAKA TAATVVLQAMGLVPKDLMAN ATCFRSASRR in isoform A and isoform D. 3 PublicationsAdd BLAST | 17 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | 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 |
CCDSi | CCDS13629.1 [P18583-1] CCDS13631.1 [P18583-3] CCDS74784.1 [P18583-6] |
PIRi | S26650 |
RefSeqi | NP_001278340.1, NM_001291411.1 [P18583-6] NP_001278341.1, NM_001291412.1 NP_115571.2, NM_032195.2 [P18583-3] NP_620305.2, NM_138927.2 [P18583-1] |
Genome annotation databases
Ensembli | ENST00000300278; ENSP00000300278; ENSG00000159140 [P18583-3] ENST00000356577; ENSP00000348984; ENSG00000159140 [P18583-1] ENST00000381679; ENSP00000371095; ENSG00000159140 [P18583-6] ENST00000455528; ENSP00000399783; ENSG00000159140 [P18583-4] |
GeneIDi | 6651 |
KEGGi | hsa:6651 |
UCSCi | uc002ysc.5, human [P18583-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | 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 |
CCDSi | CCDS13629.1 [P18583-1] CCDS13631.1 [P18583-3] CCDS74784.1 [P18583-6] |
PIRi | S26650 |
RefSeqi | NP_001278340.1, NM_001291411.1 [P18583-6] NP_001278341.1, NM_001291412.1 NP_115571.2, NM_032195.2 [P18583-3] NP_620305.2, NM_138927.2 [P18583-1] |
3D structure databases
SMRi | P18583 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 112534, 101 interactors |
DIPi | DIP-42289N |
IntActi | P18583, 39 interactors |
MINTi | P18583 |
STRINGi | 9606.ENSP00000348984 |
Protein family/group databases
TCDBi | 3.A.18.1.1, the nuclear mrna exporter (mrna-e) family |
PTM databases
GlyConnecti | 2861, 1 O-Linked glycan (2 sites) [P18583-1] |
GlyGeni | P18583, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | P18583 |
PhosphoSitePlusi | P18583 |
SwissPalmi | P18583 |
Polymorphism and mutation databases
BioMutai | SON |
DMDMi | 296453022 |
Proteomic databases
EPDi | P18583 |
jPOSTi | P18583 |
MassIVEi | P18583 |
MaxQBi | P18583 |
PaxDbi | P18583 |
PeptideAtlasi | P18583 |
PRIDEi | P18583 |
ProteomicsDBi | 53592 [P18583-1] 53593 [P18583-10] 53594 [P18583-2] 53595 [P18583-3] 53596 [P18583-4] 53597 [P18583-5] 53598 [P18583-6] 53599 [P18583-7] 53600 [P18583-8] 53601 [P18583-9] |
Protocols and materials databases
Antibodypediai | 7410, 58 antibodies |
Genome annotation databases
Ensembli | ENST00000300278; ENSP00000300278; ENSG00000159140 [P18583-3] ENST00000356577; ENSP00000348984; ENSG00000159140 [P18583-1] ENST00000381679; ENSP00000371095; ENSG00000159140 [P18583-6] ENST00000455528; ENSP00000399783; ENSG00000159140 [P18583-4] |
GeneIDi | 6651 |
KEGGi | hsa:6651 |
UCSCi | uc002ysc.5, human [P18583-1] |
Organism-specific databases
CTDi | 6651 |
DisGeNETi | 6651 |
EuPathDBi | HostDB:ENSG00000159140.17 |
GeneCardsi | SON |
HGNCi | HGNC:11183, SON |
HPAi | ENSG00000159140, Low tissue specificity |
MalaCardsi | SON |
MIMi | 182465, gene 617140, phenotype |
neXtProti | NX_P18583 |
OpenTargetsi | ENSG00000159140 |
Orphaneti | 500150, Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome |
PharmGKBi | PA36020 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QPQ7, Eukaryota |
GeneTreei | ENSGT00730000111141 |
HOGENOMi | CLU_230016_0_0_1 |
InParanoidi | P18583 |
OMAi | LTPNCMF |
OrthoDBi | 30934at2759 |
PhylomeDBi | P18583 |
TreeFami | TF330344 |
Enzyme and pathway databases
PathwayCommonsi | P18583 |
SIGNORi | P18583 |
Miscellaneous databases
BioGRID-ORCSi | 6651, 644 hits in 850 CRISPR screens |
ChiTaRSi | SON, human |
GeneWikii | SON |
GenomeRNAii | 6651 |
Pharosi | P18583, Tbio |
PROi | PR:P18583 |
RNActi | P18583, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000159140, Expressed in metanephros and 255 other tissues |
ExpressionAtlasi | P18583, baseline and differential |
Genevisiblei | P18583, HS |
Family and domain databases
CDDi | cd00048, DSRM, 1 hit |
InterProi | View protein in InterPro IPR014720, dsRBD_dom IPR000467, G_patch_dom IPR032922, SON IPR036322, WD40_repeat_dom_sf |
PANTHERi | PTHR46528, PTHR46528, 2 hits |
Pfami | View protein in Pfam PF01585, G-patch, 1 hit |
SMARTi | View protein in SMART SM00443, G_patch, 1 hit |
SUPFAMi | SSF50978, SSF50978, 1 hit |
PROSITEi | View protein in PROSITE PS50137, DS_RBD, 1 hit PS50174, G_PATCH, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SON_HUMAN | |
Accessioni | P18583Primary (citable) accession number: P18583 Secondary accession number(s): D3DSF5 Q9UPY0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1990 |
Last sequence update: | May 18, 2010 | |
Last modified: | December 2, 2020 | |
This is version 207 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human chromosome 21
Human chromosome 21: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations