SON
entrez
6651
canonical
uniprot
P18583
canonical
ensembl
ENSG00000159140
resolver
ensp
ENSP00000300278
resolver
ensp
ENSP00000348984
resolver
ensp
ENSP00000371095
resolver
ensp
ENSP00000371111
resolver
enst
ENST00000381692
resolver
genesymbol
SON
resolver
genesymbol_syn
C21orf50
resolver
genesymbol_syn
DBP5
resolver
genesymbol_syn
KIAA1019
resolver
genesymbol_syn
NREBP
resolver
hgnc
HGNC:11183
resolver
uniprot
D3DSF5
resolver
uniprot
D3DSF6
resolver
uniprot
E7ETE8
resolver
uniprot
E7EU67
resolver
uniprot
E7EVW3
resolver
uniprot
E9PFQ2
resolver
uniprot
J3QSZ5
resolver
uniprot
O14487
resolver
uniprot
O95981
resolver
uniprot
Q14120
resolver
uniprot
Q6PKE0
resolver
uniprot
Q6ZRV7
resolver
uniprot
Q9H7B1
resolver
uniprot
Q9P070
resolver
uniprot
Q9P072
resolver
uniprot
Q9UKP9
resolver
uniprot
Q9UPY0
resolver
uniprot_entry
J3QSZ5_HUMAN
resolver
uniprot_entry
Q6ZRV7_HUMAN
resolver
uniprot_entry
SON_HUMAN
resolver
uniprot_sec
D3DSF5
resolver
uniprot_sec
D3DSF6
resolver
uniprot_sec
E7ETE8
resolver
uniprot_sec
E7EU67
resolver
uniprot_sec
E7EVW3
resolver
uniprot_sec
E9PFQ2
resolver
uniprot_sec
O14487
resolver
uniprot_sec
O95981
resolver
uniprot_sec
Q14120
resolver
uniprot_sec
Q6PKE0
resolver
uniprot_sec
Q9H7B1
resolver
uniprot_sec
Q9P070
resolver
uniprot_sec
Q9P072
resolver
uniprot_sec
Q9UKP9
resolver
uniprot_sec
Q9UPY0
resolver
amino_acid_sequence
MATNIEQIFRSFVVSKFREIQQELSSGRNEGQLNGETNTPIEGNQAGDAAASARSLPNEEIVQKIEEVLSGVLDTELRYKPDLKEGSRKSRCVSVQTDPTDEIPTKKSKKHKKHKNKKKKKKKEKEKKYKRQPEESESKTKSHDDGNIDLESDSFLKFDSEPSAVALELPTRAFGPSETNESPAVVLEPPVVSMEVSEPHILETLKPATKTAELSVVSTSVISEQSEQSVAVMPEPSMTKILDSFAAAPVPTTTLVLKSSEPVVTMSVEYQMKSVLKSVESTSPEPSKIMLVEPPVAKVLEPSETLVVSSETPTEVYPEPSTSTTMDFPESSAIEALRLPEQPVDVPSEIADSSMTRPQELPELPKTTALELQESSVASAMELPGPPATSMPELQGPPVTPVLELPGPSATPVPELPGPLSTPVPELPGPPATAVPELPGPSVTPVPQLSQELPGLPAPSMGLEPPQEVPEPPVMAQELPGLPLVTAAVELPEQPAVTVAMELTEQPVTTTELEQPVGMTTVEHPGHPEVTTATGLLGQPEATMVLELPGQPVATTALELPGQPSVTGVPELPGLPSATRALELSGQPVATGALELPGPLMAAGALEFSGQSGAAGALELLGQPLATGVLELPGQPGAPELPGQPVATVALEISVQSVVTTSELSTMTVSQSLEVPSTTALESYNTVAQELPTTLVGETSVTVGVDPLMAPESHILASNTMETHILASNTMDSQMLASNTMDSQMLASNTMDSQMLASSTMDSQMLATSSMDSQMLATSSMDSQMLATSTMDSQMLATSSMDSQMLATSSMDSQMLATSSMDSQMLATSSMDSQMLATSTMDSQMLATSTMDSQMLATSSMDSQMLASGTMDSQMLASGTMDAQMLASGTMDAQMLASSTQDSAMLGSKSPDPYRLAQDPYRLAQDPYRLGHDPYRLGHDAYRLGQDPYRLGHDPYRLTPDPYRMSPRPYRIAPRSYRIAPRPYRLAPRPLMLASRRSMMMSYAAERSMMSSYERSMMSYERSMMSPMAERSMMSAYERSMMSAYERSMMSPMAERSMMSAYERSMMSAYERSMMSPMADRSMMSMGADRSMMSSYSAADRSMMSSYSAADRSMMSSYTADRSMMSMAADSYTDSYTDTYTEAYMVPPLPPEEPPTMPPLPPEEPPMTPPLPPEEPPEGPALPTEQSALTAENTWPTEVPSSPSEESVSQPEPPVSQSEISEPSAVPTDYSVSASDPSVLVSEAAVTVPEPPPEPESSITLTPVESAVVAEEHEVVPERPVTCMVSETPAMSAEPTVLASEPPVMSETAETFDSMRASGHVASEVSTSLLVPAVTTPVLAESILEPPAMAAPESSAMAVLESSAVTVLESSTVTVLESSTVTVLEPSVVTVPEPPVVAEPDYVTIPVPVVSALEPSVPVLEPAVSVLQPSMIVSEPSVSVQESTVTVSEPAVTVSEQTQVIPTEVAIESTPMILESSIMSSHVMKGINLSSGDQNLAPEIGMQEIALHSGEEPHAEEHLKGDFYESEHGINIDLNINNHLIAKEMEHNTVCAAGTSPVGEIGEEKILPTSETKQRTVLDTYPGVSEADAGETLSSTGPFALEPDATGTSKGIEFTTASTLSLVNKYDVDLSLTTQDTEHDMVISTSPSGGSEADIEGPLPAKDIHLDLPSNNNLVSKDTEEPLPVKESDQTLAALLSPKESSGGEKEVPPPPKETLPDSGFSANIEDINEADLVRPLLPKDMERLTSLRAGIEGPLLASDVGRDRSAASPVVSSMPERASESSSEEKDDYEIFVKVKDTHEKSKKNKNRDKGEKEKKRDSSLRSRSKRSKSSEHKSRKRTSESRSRARKRSSKSKSHRSQTRSRSRSRRRRRSSRSRSKSRGRRSVSKEKRKRSPKHRSKSRERKRKRSSSRDNRKTVRARSRTPSRRSRSHTPSRRRRSRSVGRRRSFSISPSRRSRTPSRRSRTPSRRSRTPSRRSRTPSRRSRTPSRRSRTPSRRRRSRSVVRRRSFSISPVRLRRSRTPLRRRFSRSPIRRKRSRSSERGRSPKRLTDLDKAQLLEIAKANAAAMCAKAGVPLPPNLKPAPPPTIEEKVAKKSGGATIEELTEKCKQIAQSKEDDDVIVNKPHVSDEEEEEPPFYHHPFKLSEPKPIFFNLNIAAAKPTPPKSQVTLTKEFPVSSGSQHRKKEADSVYGEWVPVEKNGEENKDDDNVFSSNLPSEPVDISTAMSERALAQKRLSENAFDLEAMSMLNRAQERIDAWAQLNSIPGQFTGSTGVQVLTQEQLANTGAQAWIKKDQFLRAAPVTGGMGAVLMRKMGWREGEGLGKNKEGNKEPILVDFKTDRKGLVAVGERAQKRSGNFSAAMKDLSGKHPVSALMEICNKRRWQPPEFLLVHDSGPDHRKHFLFRVLRNGALTRPNCMFFLNRY
uniprot
proteins
disease_involvement
DISEASE: ZTTK syndrome (ZTTKS) [MIM:617140]: An autosomal dominant syndrome characterized by intellectual disability, developmental delay, malformations of the cerebral cortex, epilepsy, vision problems, musculo-skeletal abnormalities, and congenital malformations. {ECO:0000269|PubMed:25590979, ECO:0000269|PubMed:27256762, ECO:0000269|PubMed:27545676, ECO:0000269|PubMed:27545680}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. Essential for correct RNA splicing of multiple genes critical for brain development, neuronal migration and metabolism, including TUBG1, FLNA, PNKP, WDR62, PSMD3, PCK2, PFKL, IDH2, and ACY1 (PubMed:27545680). {ECO:0000269|PubMed:20581448, ECO:0000269|PubMed:21504830, ECO:0000269|PubMed:27545680}.
uniprot
proteins
mass_dalton
263830
uniprot
proteins
pubmed
10470851
uniprot
proteins
pubmed
10509013
uniprot
proteins
pubmed
10830953
uniprot
proteins
pubmed
11306577
uniprot
proteins
pubmed
11707072
uniprot
proteins
pubmed
1424986
uniprot
proteins
pubmed
1435773
uniprot
proteins
pubmed
1435774
uniprot
proteins
pubmed
14637006
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14759258
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18952841
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
1944255
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20581448
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21504830
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25590979
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
27256762
uniprot
proteins
pubmed
27545676
uniprot
proteins
pubmed
27545680
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
3054499
uniprot
proteins
pubmed
34023904
uniprot
proteins
sequence_length
2426
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:1424986, ECO:0000269|PubMed:21504830, ECO:0000269|PubMed:34023904}. Note=Colocalizes with the pre-mRNA splicing factor SRSF2.
uniprot
proteins