| Type | Description |
|---|---|
| Definition | discs large MAGUK scaffold protein 3 |
| Date | Results | Publications |
|---|---|---|
| 2020-09-12 15:59:00 | High expression of DLG3 is associated with decreased survival from breast cancer. | 31271664 |
| 2019-03-02 12:07:00 | These data provide evidence for a novel mechanism in regulating SAP102 function and glutamate receptor trafficking. | 29282697 |
| 2017-12-02 10:11:00 | This family broadens the mutational and phenotypical spectrum of DLG3-associated non-syndromic X-linked intellectual disability and demonstrates that heterozygous female mutation carriers can be as severely affected as males. | 28777483 |
| 2017-07-22 11:19:00 | Following the critical period NMDA receptor function was unaffected by loss of SAP102 but there was a reduction in the divergence of TC connectivity. These data suggest that changes in synaptic function early in development caused by mutations in SAP102 result in changes in network connectivity later in life. | 27466188 |
| 2017-07-08 12:54:00 | The dupG DLG3 variant segregated with non-syndromic X-linked intellectual disability in a large family and was predicted to disrupt folding of the mRNA. | 27222290 |
| Type | IDs |
|---|---|
| Synonymous | MRX, MRX90, NEDLG, PPP1R82, SAP102, XLMR |
| Gene |
UniProtKB-ID:
DLG3_HUMAN,
Q59FY1_HUMAN
UniprotKB:
Q92796,
Q59FY1
UniParc:
UPI00017A851E,
UPI000036FBFF,
UPI000013C60C,
UPI00004F6C64
EMBL:
AL139109,
BC093864,
AK316518,
AB033058,
CH471132,
AL139398,
AK304020,
BC093866,
AK303377,
AB209328,
U49089
Ensembl:
ENSG00000082458
KO:
hsa:1741
|
| Nucleutide sequences |
EMBL-CDS:
EAX05337.1,
BAG64935.1,
AAB61453.1,
BAG64433.1,
BAH14889.1,
BAA86546.1,
AAH93864.1,
EAX05338.1,
EAX05335.1,
EAX05333.1,
AAH93866.1,
BAD92565.1
Ensembl_TRS:
ENST00000374360,
ENST00000542398,
ENST00000374355
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000363480,
ENSP00000363475,
ENSP00000441393
RefSeq:
XP_016884811.1,
NP_066943.2,
XP_016884814.1,
XP_016884816.1,
XP_005262305.1,
NP_065781.1,
NP_001159750.1,
XP_006724689.1,
XP_016884812.1,
XP_011529185.1,
XP_016884813.1,
XP_016884815.1,
XP_006724688.1
|
| Others |
UniRef100:
UniRef100_Q59FY1,
UniRef100_Q92796
UniRef90:
UniRef90_Q92796
UniRef50:
UniRef50_Q92796
UniGene:
Hs.721586
CCDS:
CCDS55439.1,
CCDS43967.1,
CCDS14403.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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