KEGG   Homo sapiens (human): 6651
Entry
6651              CDS       T01001                                 

Gene name
SON, BASS1, C21orf50, DBP-5, NREBP, SON3, TOKIMS
Definition
(RefSeq) SON DNA and RNA binding protein
  KO
K23718  protein SON
Organism
hsa  Homo sapiens (human)
Disease
H01769  ZTTK syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03041 Spliceosome [BR:hsa03041]
    6651 (SON)
Spliceosome [BR:hsa03041]
 Other splicing related proteins
  Spliceosome associated proteins (SAPs)
   SR-related proteins
    6651 (SON)
SSDB
Motif
Pfam: G-patch RSRP DND1_DSRM G-patch_2
Other DBs
NCBI-GeneID: 6651
NCBI-ProteinID: NP_620305
OMIM: 182465
HGNC: 11183
Ensembl: ENSG00000159140
Vega: OTTHUMG00000065806
Pharos: P18583(Tbio)
UniProt: P18583
Position
21q22.11
AA seq 2426 aa
MATNIEQIFRSFVVSKFREIQQELSSGRNEGQLNGETNTPIEGNQAGDAAASARSLPNEE
IVQKIEEVLSGVLDTELRYKPDLKEGSRKSRCVSVQTDPTDEIPTKKSKKHKKHKNKKKK
KKKEKEKKYKRQPEESESKTKSHDDGNIDLESDSFLKFDSEPSAVALELPTRAFGPSETN
ESPAVVLEPPVVSMEVSEPHILETLKPATKTAELSVVSTSVISEQSEQSVAVMPEPSMTK
ILDSFAAAPVPTTTLVLKSSEPVVTMSVEYQMKSVLKSVESTSPEPSKIMLVEPPVAKVL
EPSETLVVSSETPTEVYPEPSTSTTMDFPESSAIEALRLPEQPVDVPSEIADSSMTRPQE
LPELPKTTALELQESSVASAMELPGPPATSMPELQGPPVTPVLELPGPSATPVPELPGPL
STPVPELPGPPATAVPELPGPSVTPVPQLSQELPGLPAPSMGLEPPQEVPEPPVMAQELP
GLPLVTAAVELPEQPAVTVAMELTEQPVTTTELEQPVGMTTVEHPGHPEVTTATGLLGQP
EATMVLELPGQPVATTALELPGQPSVTGVPELPGLPSATRALELSGQPVATGALELPGPL
MAAGALEFSGQSGAAGALELLGQPLATGVLELPGQPGAPELPGQPVATVALEISVQSVVT
TSELSTMTVSQSLEVPSTTALESYNTVAQELPTTLVGETSVTVGVDPLMAPESHILASNT
METHILASNTMDSQMLASNTMDSQMLASNTMDSQMLASSTMDSQMLATSSMDSQMLATSS
MDSQMLATSTMDSQMLATSSMDSQMLATSSMDSQMLATSSMDSQMLATSSMDSQMLATST
MDSQMLATSTMDSQMLATSSMDSQMLASGTMDSQMLASGTMDAQMLASGTMDAQMLASST
QDSAMLGSKSPDPYRLAQDPYRLAQDPYRLGHDPYRLGHDAYRLGQDPYRLGHDPYRLTP
DPYRMSPRPYRIAPRSYRIAPRPYRLAPRPLMLASRRSMMMSYAAERSMMSSYERSMMSY
ERSMMSPMAERSMMSAYERSMMSAYERSMMSPMAERSMMSAYERSMMSAYERSMMSPMAD
RSMMSMGADRSMMSSYSAADRSMMSSYSAADRSMMSSYTADRSMMSMAADSYTDSYTDTY
TEAYMVPPLPPEEPPTMPPLPPEEPPMTPPLPPEEPPEGPALPTEQSALTAENTWPTEVP
SSPSEESVSQPEPPVSQSEISEPSAVPTDYSVSASDPSVLVSEAAVTVPEPPPEPESSIT
LTPVESAVVAEEHEVVPERPVTCMVSETPAMSAEPTVLASEPPVMSETAETFDSMRASGH
VASEVSTSLLVPAVTTPVLAESILEPPAMAAPESSAMAVLESSAVTVLESSTVTVLESST
VTVLEPSVVTVPEPPVVAEPDYVTIPVPVVSALEPSVPVLEPAVSVLQPSMIVSEPSVSV
QESTVTVSEPAVTVSEQTQVIPTEVAIESTPMILESSIMSSHVMKGINLSSGDQNLAPEI
GMQEIALHSGEEPHAEEHLKGDFYESEHGINIDLNINNHLIAKEMEHNTVCAAGTSPVGE
IGEEKILPTSETKQRTVLDTYPGVSEADAGETLSSTGPFALEPDATGTSKGIEFTTASTL
SLVNKYDVDLSLTTQDTEHDMVISTSPSGGSEADIEGPLPAKDIHLDLPSNNNLVSKDTE
EPLPVKESDQTLAALLSPKESSGGEKEVPPPPKETLPDSGFSANIEDINEADLVRPLLPK
DMERLTSLRAGIEGPLLASDVGRDRSAASPVVSSMPERASESSSEEKDDYEIFVKVKDTH
EKSKKNKNRDKGEKEKKRDSSLRSRSKRSKSSEHKSRKRTSESRSRARKRSSKSKSHRSQ
TRSRSRSRRRRRSSRSRSKSRGRRSVSKEKRKRSPKHRSKSRERKRKRSSSRDNRKTVRA
RSRTPSRRSRSHTPSRRRRSRSVGRRRSFSISPSRRSRTPSRRSRTPSRRSRTPSRRSRT
PSRRSRTPSRRSRTPSRRRRSRSVVRRRSFSISPVRLRRSRTPLRRRFSRSPIRRKRSRS
SERGRSPKRLTDLDKAQLLEIAKANAAAMCAKAGVPLPPNLKPAPPPTIEEKVAKKSGGA
TIEELTEKCKQIAQSKEDDDVIVNKPHVSDEEEEEPPFYHHPFKLSEPKPIFFNLNIAAA
KPTPPKSQVTLTKEFPVSSGSQHRKKEADSVYGEWVPVEKNGEENKDDDNVFSSNLPSEP
VDISTAMSERALAQKRLSENAFDLEAMSMLNRAQERIDAWAQLNSIPGQFTGSTGVQVLT
QEQLANTGAQAWIKKDQFLRAAPVTGGMGAVLMRKMGWREGEGLGKNKEGNKEPILVDFK
TDRKGLVAVGERAQKRSGNFSAAMKDLSGKHPVSALMEICNKRRWQPPEFLLVHDSGPDH
RKHFLFRVLRNGALTRPNCMFFLNRY
NT seq 7281 nt   +upstreamnt  +downstreamnt
atggcgaccaacatcgagcagatttttaggtctttcgtggtcagtaaattccgggaaatt
caacaggagctttccagtggaaggaatgaaggccagctgaatggtgaaacaaatacaccc
attgaaggaaaccaggcgggtgatgcagctgcctctgccaggagtctaccaaatgaagaa
atagtgcagaagatagaggaagtactttctggggtcttagatacagaactacgatataag
ccagacttgaaagagggctccagaaaaagtagatgcgtatctgtacaaacagatcctact
gatgaaattcccactaaaaagtcaaagaagcataaaaagcacaaaaacaaaaagaagaaa
aagaagaaagaaaaggaaaaaaaatataaaagacagccagaagaatctgagtcaaagacg
aaatctcatgatgatgggaacatagatttagaatctgattcctttttaaagtttgattct
gaaccttcagctgtggcgctggagcttcctacaagagcatttggcccatctgagaccaat
gaatcccctgcagttgtgctagaacctcctgtagtatcaatggaggtatcagagccacac
atcttagaaactctgaagccagctacaaaaactgcagaactgtcagttgtatctacatca
gtaatctcagagcagtcagagcagtctgtggcagtaatgccagaaccatccatgacaaag
attctggattcctttgcagcagcaccagtgcctactacaacactggtgttgaagtcatct
gagccagttgtaacaatgtcagtggagtatcagatgaagtctgtgctgaaatctgtggag
agcacatctccagagccatcaaagatcatgttggtagagcccccagtagcaaaagtgtta
gagccttcagaaacccttgtggtatcatcagagacacctactgaggtgtaccctgagcca
agcacatcaacaacaatggattttccagagtcatctgcaattgaagcgctaagattgcca
gagcagcctgtagacgtaccatcggagattgcagattcatccatgacaagaccgcaggag
ttgccggagctgcctaagaccacagcgttggagctgcaggagtcgtcggtggcctcagcg
atggagttgccggggccacctgcgacctccatgccggagttgcaggggccccctgtgact
ccagtgctggagttacctgggccctctgctaccccggtgccagagttgccagggcccctt
tctaccccagtgcctgagttgccagggccccctgcgacagcagtgcctgagttgccaggg
ccctctgtgacaccagtgccacagttgtcgcaggaattgccagggcttccagcaccatcc
atggggttggagccaccacaggaggtaccagagccacctgtgatggcacaggagttgcca
gggctgcctttggtgacagcagcagtagagttgccagagcagcctgcggtaacagtagca
atggagttgaccgaacaacctgtgacgacgacagagttggagcagcctgtggggatgaca
acggtggaacatcctgggcatcctgaggtgacaacggcaacagggttgctggggcagcct
gaggcaacgatggtgctggagttgccaggacagccagtggcaacgacagcgctggagttg
ccggggcagccttcggtgactggggtgccagagttgccagggctgccttcggcaactagg
gcactggagttgtcggggcagcctgtggcaactggggcactagagttgcctgggccgctc
atggcagctggggcactggagttctcggggcagtctggggcagctggagcactggagctt
ttggggcagcctctggcaacaggggtgctggagttgccagggcagcctggggcgccagag
ttgcctgggcagcctgtggcaactgtggcgctggagatctctgttcagtctgtggtgaca
acatcggagctgtcaacgatgaccgtgtcgcagtccctggaggtgccctcgacgacagcg
ctggaatcctataatacggtagcacaggagctgcctactacattagtgggggagacttct
gtaacagtaggagtggatcccttgatggccccagaatcccatatattagcttctaacacc
atggagacccatatattagcatccaacaccatggactcccaaatgctagcgtccaacacc
atggactcccagatgctagcatccaacaccatggactcccagatgttagcgtctagcacc
atggactcccagatgttagcaactagctccatggactcccagatgttagcaactagctcc
atggactcccagatgttagcaactagcactatggactcccagatgttagcaaccagttcc
atggactcccagatgttagcaaccagctccatggactcccagatgttagcaaccagctcc
atggactcccagatgttagcaaccagctccatggactcccagatgttagcaaccagcacc
atggattctcagatgttagcaaccagcaccatggactcccagatgttagcaactagctca
atggattcccagatgttagcatctggcactatggactctcaaatgttagcttctggcacc
atggatgctcagatgttagcgtctggtaccatggatgcccagatgttagcgtctagtacc
caagattctgctatgttgggttcaaaatctcctgatccctataggttagctcaggatcct
tacaggttagctcaggatccctataggttgggccatgacccctatagattaggtcatgat
gcttacaggttaggacaagacccttatagattaggccatgatccctacagactaactcct
gatccctataggatgtcacctagaccctacaggatagcacccaggtcctatagaatagca
cccaggccatataggttagcacctagacccctgatgttagcatctagacgttctatgatg
atgtcctatgctgcagaacgttccatgatgtcatcttacgaacgctctatgatgtcttat
gagcggtctatgatgtcccctatggctgaacgctctatgatgtcagcctacgagcgctct
atgatgtcagcctacgagcgctctatgatgtcccctatggctgagcgctctatgatgtca
gcttatgaacgctccatgatgtcagcttatgaacgctccatgatgtccccaatggctgat
cgatctatgatgtccatgggtgctgaccggtctatgatgtcgtcatactctgctgctgac
cggtctatgatgtcatcgtactctgcagctgaccgatctatgatgtcatcttatactgct
gatcgttcaatgatgtctatggctgctgattcttacaccgattcttacactgacacatat
acagaggcatatatggtgccacctttgcctcctgaagagcccccaacaatgccaccgttg
ccacctgaggagccaccaatgacaccaccattgcctcctgaggaaccaccagagggtcca
gcattgcccactgagcagtcagcattaacagctgaaaatacttggcctacagaggtgcca
tcatcaccatctgaagagtctgtatcgcagcctgagcctcctgtgagtcaaagtgagatt
tcggagccttcagcagtgcctactgattattcagtgtcagcatcagatccctcagtttta
gtatcagaggctgctgtgactgttccagaaccaccaccagagccagaatcttcaattacg
ttaacacctgtagagtctgcagtagtagcagaagaacatgaagttgttccagagagacca
gtgacttgtatggtatctgaaactcccgccatgtcagctgaaccaactgtgttagcatca
gagcctcctgttatgtcagagacagcagaaacatttgattccatgagagcctcaggacat
gttgcctcagaagtatctacatccttgttggttccagcagtaactactccagtgctggca
gagagcattctggagccgccagccatggctgccccagagtcttcagctatggctgtcctg
gagtcttcggctgtgaccgtcctggagtcttcgactgtgactgtcctggagtcttcgact
gtaactgtcctggagccttcggttgtgactgtcccggagcctcctgttgtggctgagcca
gactatgttaccattcctgtgccagttgtttctgcgctggagccttctgtgcctgttctg
gaaccagcggtgtcagtccttcaaccttctatgattgtttcagaaccatctgtttctgtc
caggaatcgactgtgacagtttcagagcctgctgtcacagtctcagagcagactcaagta
ataccaactgaggtggctatagagtccacaccaatgatactggaatctagtatcatgtca
tcacatgttatgaaaggaattaatctatcctctggtgatcaaaatcttgctccagagatt
ggcatgcaggagattgcattgcattcaggtgaagaaccacatgctgaggaacacctgaaa
ggtgacttttacgaaagtgaacatggtataaatatagaccttaatataaataatcattta
attgctaaagagatggaacataatacagtgtgtgctgctggtactagtcctgttggggaa
attggtgaagagaaaattttgcccaccagtgagactaaacagcgcacagtattggatacc
taccctggtgttagtgaagctgatgcaggagaaactctatcttctactggtccttttgct
ctggaacctgatgcaacaggaactagtaagggtattgaatttaccacagcatctactctc
agtttagttaataaatatgatgttgatttatctttaactactcaagatactgaacatgac
atggtaatttccaccagtcctagtggtggtagtgaagctgacattgaagggcctttgcct
gctaaagatattcatcttgatttaccatctaataataaccttgttagtaaggatacagaa
gaaccattacctgtaaaagagagtgaccagacattagcagctctgctcagccctaaagaa
agtagtggaggagaaaaagaagtacctccccctcctaaagagacactgcctgattcagga
ttttctgccaatattgaggatattaatgaagcagatttagtgagaccgttacttcctaag
gacatggaacgtcttacaagccttagagctggcattgaaggacctttacttgcaagtgat
gttggacgtgacagatctgctgccagcccggttgtaagtagtatgccagaaagagcttca
gagtcttcttcagaggaaaaagatgattatgaaatttttgtaaaagttaaggacactcac
gaaaaaagcaagaaaaataagaaccgtgataagggggagaaagagaagaaaagagactct
tcattaagatctcgaagtaagcgttccaaatcttctgaacacaaatcacgcaagcgtacc
agtgaatctcgttctagggcaagaaagagatcatctaagtccaagtctcatcgctctcag
acacgttcacggtcacgttcaagacgcaggaggagaagcagcagatcaagatcaaagtct
agaggaagaagatctgtatcaaaagagaagcgcaaaagatctccaaagcacagatccaag
tctagggaaagaaaaagaaaaagatcaagctccagggataaccgaaagacagttagagct
cgaagtcgaaccccaagtcgtcggagtcggagtcatactccaagtcgtcgacgaaggtct
agatctgtgggtagaagaaggagctttagcatttccccaagccgccgcagccgcaccccc
agccgccgcagccgcacccccagccgccgcagccgcacccccagccgccgcagccgcacc
cccagccgccggagccgcacccctagccgtcggagccgcaccccaagccgccggagaaga
tcaaggtctgtggtaagaagacgaagcttcagtatctcaccagtcagattaaggcgatca
agaacacccttaagaagaaggtttagcagatctcccatccgtcgtaaaagatccaggtct
tctgaacgaggcagatcacccaaacgtctgacagatttggataaggctcaattacttgaa
atagccaaagctaatgcagctgccatgtgtgctaaggctggtgtccctttaccaccaaac
ctaaagcctgcacctccacctactatagaagagaaagttgctaaaaagtcaggaggagct
actatagaagaactaactgagaaatgtaaacagatcgcacagagtaaagaagatgatgat
gtaatagtgaataaacctcatgtttcggatgaagaggaagaagaacctcctttttatcat
catccctttaaactcagtgaacccaaacctatttttttcaatctgaatattgctgcagca
aaaccaactccaccaaaaagccaggtaacattaacaaaagaattccctgtatcatctgga
tctcaacatcggaaaaaagaagcggatagtgtttatggagaatgggttcctgtggagaaa
aatggtgaagaaaacaaagatgatgataatgttttcagcagcaatttgccctcagagcct
gtggacatctctacagcaatgagtgaacgggcacttgctcagaaaagactcagtgagaat
gcatttgatcttgaagccatgagcatgttaaatagagctcaggaaaggattgatgcctgg
gctcagctgaactctattcctggccagttcacaggaagtacaggagtacaggttttgaca
caagaacagttggccaatactggtgcccaagcctggattaaaaaggatcagttcttaaga
gcagccccggtaactggaggaatgggagccgttttgatgagaaaaatgggctggagagaa
ggagaaggattaggaaaaaacaaagaaggcaataaggaacccatcctagttgattttaag
acagaccgaaaaggtcttgttgcagtaggagaaagagcacaaaagaggtctgggaacttc
tctgctgcaatgaaagatctgtcaggcaaacatcctgtgtctgctttgatggagatctgt
aataaaagaaggtggcaaccacctgaatttctattggtccatgatagtggccctgatcat
cgcaaacattttctctttagggtattgagaaatggagcccttaccagacccaattgtatg
tttttcttgaataggtattga

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