| Type | Description |
|---|---|
| Definition | USH1 protein network component sans |
| Date | Results | Publications |
|---|---|---|
| 2020-09-19 16:26:00 | Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation. | 31644917 |
| 2019-04-20 12:02:00 | The protein products of PCDH15 and USH1G function together at the stereocilia tips in the hair cells. | 30029624 |
| 2019-01-19 11:04:00 | Crystall structure shows the interactions between SANS protein domains and its partner Myo7a. | 28660889 |
| 2017-05-20 14:14:00 | Protein-protein interaction assays and co-expression of complex partners reveal that pathogenic mutations in USH1G severely affect formation of the SANS/ush2a/whirlin complex. Translational read-through drug treatment, targeting the c.728C > A (p.S243X) nonsense mutation, restored SANS scaffold function. We conclude that USH1 and USH2 proteins function together in higher order protein complexes. | 28137943 |
| 2016-05-21 10:34:00 | USH1G caused a non-syndromic hearing loss in a Dutch family. Compound heterozygous mutations in USH1G were found to segregate with the hearing loss, a missense (c.310A>G, p.Met104Val) and a frameshift mutation (c.780insGCAC, p.Tyr261Alafs*96). | 25255398 |
| Type | IDs |
|---|---|
| Synonymous | ANKS4A, SANS |
| Gene |
UniProtKB-ID:
USH1G_HUMAN,
B4DL95_HUMAN
UniprotKB:
Q495M9,
B4DL95
UniParc:
UPI00017A73E2,
UPI00001BC010
EMBL:
BC101098,
BC101097,
AK296899,
AK091243,
BC101096,
BC101099
Ensembl:
ENSG00000182040
KO:
hsa:124590
|
| Nucleutide sequences |
EMBL-CDS:
AAI01099.1,
AAI01098.1,
AAI01097.1,
AAI01100.1,
BAC03619.1,
BAG59457.1
Ensembl_TRS:
ENST00000614341
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000480279
RefSeq:
NP_775748.2,
XP_011522598.1,
NP_001269418.1
|
| Others |
UniRef100:
UniRef100_Q495M9,
UniRef100_B4DL95
UniRef90:
UniRef90_B4DL95,
UniRef90_Q495M9
UniRef50:
UniRef50_B4DL95,
UniRef50_Q495M9
UniGene:
Hs.376688
CCDS:
CCDS32725.1
|
| {{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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