| Type | Description |
|---|---|
| Definition | USH1 protein network component harmonin |
| 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 |
| 2019-12-14 10:32:00 | Mutations of USHIC can cause both Usher syndrome type IC and nonsyndromic recessive deafness DFNB18. | 12107438 |
| 2019-01-19 11:04:00 | Crystall structure shows the interactions between harmonin protein domains and its partner Myo7a. | 28660889 |
| 2018-04-28 11:54:00 | The structure of the Myo7b CMF/USH1C PDZ complex provides mechanistic explanations for >20 deafness-causing mutations in Myo7a CMF. Taken together, these findings suggest that binding to PDZ domains, such as those from USH1C, PDZD7, and Whirlin, is a common property of CMFs of Myo7a, Myo7b, and Myo15a. | 28439001 |
| 2018-01-20 10:38:00 | We found a remarkable genetic heterogeneity in the studied families with USH1 with a variety of mutations, among which three were novel. These novel mutations will be included in the NADf mutation screening chip that will allow a higher diagnosis efficiency of this extremely genetically heterogeneous disease. | 27440999 |
| Type | IDs |
|---|---|
| Synonymous | AIE-75, DFNB18, DFNB18A, NY-CO-37, NY-CO-38, PDZ-45, PDZ-73, PDZ-73/NY-CO-38, PDZ73, PDZD7C, ush1cpst |
| Gene |
UniProtKB-ID:
USH1C_HUMAN,
A0A0S2Z4U9_HUMAN,
A0A0S2Z4V1_HUMAN
UniprotKB:
Q9Y6N9,
A0A0S2Z4U9,
A0A0S2Z4V1
UniParc:
UPI0000D625CB,
UPI0000E5930E,
UPI000016944D,
UPI00001D965A,
UPI0000E59310
EMBL:
AK290788,
BK000147,
AF039700,
CH471064,
AB018687,
AB006955,
AC124799,
KU178499,
KU178498,
BC016057,
AF039699
Ensembl:
ENSG00000006611
KO:
hsa:10083
|
| Nucleutide sequences |
EMBL-CDS:
AAC18048.1,
EAW68432.1,
DAA00086.1,
BAA81739.1,
AAH16057.1,
BAA81740.1,
BAF83477.1,
AAC18049.1,
ALQ33957.1,
EAW68434.1,
ALQ33956.1,
EAW68431.1
Gene_ORFName:
hCG_15638,
hCG_15638
Ensembl_TRS:
ENST00000318024,
ENST00000527020,
ENST00000526313,
ENST00000527720,
ENST00000005226
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000432944,
ENSP00000317018,
ENSP00000432236,
ENSP00000436934,
ENSP00000005226
RefSeq:
NP_710142.1,
XP_011518136.1,
XP_016872564.1,
XP_016872561.1,
XP_016872563.1,
NP_005700.2,
XP_016872562.1,
NP_001284693.1,
XP_011518134.1
|
| Others |
UniRef100:
UniRef100_Q9Y6N9,
UniRef100_Q9Y6N9-4
UniRef90:
UniRef90_Q9Y6N9,
UniRef90_Q9Y6N9-4
UniRef50:
UniRef50_Q9Y6N9-4,
UniRef50_Q9Y6N9
UniGene:
Hs.502072
CCDS:
CCDS73265.1,
CCDS7825.1,
CCDS31438.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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