| Type | Description |
|---|---|
| Definition | SON DNA binding protein |
| Date | Results | Publications |
|---|---|---|
| 2021-03-28 19:07:00 | SON and SRRM2 are essential for nuclear speckle formation. | 33095160 |
| 2020-09-26 13:03:00 | SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes. | 31005274 |
| 2018-07-21 10:39:00 | We found that SON and SC35 (also known as SRSF2) localize to the central region of the speckle, whereas MALAT1 and small nuclear (sn)RNAs are enriched at the speckle periphery. | 29133588 |
| 2017-10-21 12:43:00 | we have established that haploinsufficiency of SON causes a new recognizable syndrome of intellectual disability. SON is located within 21q22.11, a critical region for Braddock-Carey syndrome, therefore, we suggest that the intellectual disability observed in Braddock-Carey syndrome could be accounted for by haploinsufficiency of SON. | 27256762 |
| 2017-05-06 10:16:00 | description of seven unrelated individuals with de novo variants in SON and propose that deleterious variants in SON are associated with a severe multisystem disorder characterized by developmental delay, persistent feeding difficulties, and congenital malformations, including brain anomalies | 27545676 |
| Type | IDs |
|---|---|
| Synonymous | BASS1, C21orf50, DBP-5, NREBP, SON3, TOKIMS |
| Gene |
UniProtKB-ID:
SON_HUMAN,
Q6ZRV7_HUMAN,
J3QSZ5_HUMAN
UniprotKB:
P18583,
Q6ZRV7,
J3QSZ5
UniParc:
UPI0000167B76,
UPI00001C0F06,
UPI0000140BE2,
UPI000013DFCF,
UPI0001D14789,
UPI0000140BF6,
UPI0000140BFD,
UPI000013E646,
UPI000066D9BC,
UPI0001D1478B,
UPI0001D1478C,
UPI0001AE629A
EMBL:
AK127947,
AK024752,
AF380182,
AY026895,
X63753,
AF380184,
AF161430,
BC002422,
AP000304,
X63751,
AF435977,
AF380180,
AF380183,
M36428,
X63071,
CH471079,
AF139897,
AF380181,
AB028942,
AF380179,
AF161428,
AP000303
Ensembl:
ENSG00000159140
KO:
hsa:6651
|
| Nucleutide sequences |
EMBL-CDS:
AAL34497.1,
AAA36624.1,
AAF28988.1,
AAL34502.1,
AAL34500.1,
AAF28990.1,
AAL34499.1,
AAL34498.1,
CAA44793.1,
BAA82971.2,
BAB14985.1,
EAX09823.1,
EAX09821.1,
AAD50078.1,
CAA45282.1,
AAL30810.1,
AAK07692.1,
CAC69885.1,
AAH02422.1,
AAL34501.1,
EAX09814.1,
EAX09818.1,
BAC87202.1
Gene_ORFName:
HSPC312,
HSPC310
Ensembl_TRS:
ENST00000381679,
ENST00000455528,
ENST00000356577,
ENST00000300278,
ENST00000381692
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000348984,
ENSP00000371095,
ENSP00000399783,
ENSP00000300278,
ENSP00000371111
RefSeq:
NP_001278341.1,
NP_001278340.2,
NP_620305.3,
NP_115571.3
|
| Others |
UniRef100:
UniRef100_A0A2I3T192,
UniRef100_J3QSZ5,
UniRef100_P18583
UniRef90:
UniRef90_J3QSZ5,
UniRef90_P18583
UniRef50:
UniRef50_P18583,
UniRef50_J3QSZ5
UniGene:
Hs.517262
CCDS:
CCDS74784.1,
CCDS13629.1,
CCDS13631.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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