| Type | Description |
|---|---|
| Definition | DEAF1 transcription factor |
| Date | Results | Publications |
|---|---|---|
| 2020-06-13 12:39:00 | this study shows that Deaf1 promotes eccrine gland formation | 31145909 |
| 2020-02-08 10:09:00 | We propose that different variants in the DEAF1 gene result in a phenotypic spectrum centered around neurodevelopmental delay. While a pathogenic de novo dominant variant would also incapacitate the product of the wild-type allele and result in a dominant-negative effect, a combination of two recessive variants would result in a partial loss of function. | 30923367 |
| 2018-06-23 10:42:00 | The results demonstrate that variants located within the neurodevelopmental disorder (DAND)or NLS domains significantly reduce DEAF1 transcriptional regulatory activities and are thus, likely to contribute to the underlying clinical concerns in DAND patients. | 28940898 |
| 2017-06-24 10:12:00 | identified pathogenic de novo variants in two cases, a nonsense variant in IQSEC2 and a missense variant in the SAND domain of DEAF1 | 28213671 |
| 2017-01-14 11:48:00 | We conclude that this DEAF1 gene alteration caused this patient's symptoms and that white matter disease should not be considered a obligate feature of this syndrome. | 26834045 |
| Type | IDs |
|---|---|
| Synonymous | MRD24, NUDR, SPN, ZMYND5 |
| Gene |
UniProtKB-ID:
DEAF1_HUMAN
UniprotKB:
O75398
UniParc:
UPI000002A7CE,
UPI00001290E6,
UPI000002A7CF,
UPI0001C2FAD2
EMBL:
AF068893,
AF068897,
AF068894,
BC053322,
AF068896,
FJ985253,
AK291383,
AF049460,
AF049459,
AK289873,
AF068895,
AF007165
Ensembl:
ENSG00000177030
KO:
hsa:10522
|
| Nucleutide sequences |
EMBL-CDS:
AAC25715.1,
AAC25717.1,
AAC25716.1,
AAC25718.1,
AAH53322.1,
AAC25719.1,
AAC79676.1,
AAB62704.1,
AAC79677.1,
ACU88060.1,
BAF84072.1,
BAF82562.1
Ensembl_TRS:
ENST00000382409
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000371846
RefSeq:
XP_024304094.1,
XP_024304093.1,
XP_011518144.1,
NP_001354319.1,
NP_066288.2,
NP_001280563.1,
XP_024304095.1
|
| Others |
UniRef100:
UniRef100_O75398
UniRef90:
UniRef90_O75398
UniRef50:
UniRef50_O75398
UniGene:
Hs.243994
CCDS:
CCDS31327.1
|
| {{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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