DEAF1 - DEAF1 transcription factor Gene
Also Known as SPN; NUDR; VSVS; MRD24; ZMYND5; NEDHELS
生物種: Homo sapiens
About DEAF1
This gene has 22 transcripts (splice variants), 1 gene allele, 195 orthologues and is associated with 7 phenotypes. Ubiquitous expression in brain (RPKM 14.6), thyroid (RPKM 8.8) and 25 other tissues.
Summary
This gene encodes a zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of embryonic development. Mutations in this gene have been found in individuals with autosomal dominant cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
DEAF1 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001293634.1 | NP_001280563.1 | deformed epidermal autoregulatory factor 1 homolog isoform b |
| NM_001367390.1 | NP_001354319.1 | deformed epidermal autoregulatory factor 1 homolog isoform c |
| NM_021008.4 | NP_066288.2 | deformed epidermal autoregulatory factor 1 homolog isoform a |
| Molecular Function GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| enables DNA-binding transcription repressor activity, RNA polymerase II-specific |
IDA
IDA: Inferred from direct assay
|
24726472 | GOA |
| enables RNA polymerase II transcription regulatory region sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
24726472 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
20368287 | GOA |
| Biological Process GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| involved in negative regulation of DNA-templated transcription |
IDA
IDA: Inferred from direct assay
|
24726472 | GOA |
| involved in negative regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
24726472 | GOA |
| involved in positive regulation of DNA-templated transcription |
IDA
IDA: Inferred from direct assay
|
24726472 | GOA |
| involved in regulation of mammary gland epithelial cell proliferation |
IDA
IDA: Inferred from direct assay
|
18826651 | GOA |
| Cellular Component GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
19668219 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
19668219 | GOA |
DEAF1 Protein Structure
SAND: SAND domain (197 - 272)
zf-MYND: MYND finger (504 - 540)
- 0
- 100
- 200
- 300
- 400
- 500
- 565 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
deformed epidermal autoregulatory factor 1 homolog |
|
DEAF1 Protein-protein interaction Information
|
Type
|
タンパク質名 | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | 参考文献 |
|---|---|---|---|---|---|---|---|
|
Intra
|
DEAF1 | O75398 | GSK3A | Homo sapiens | P49840 | 20368287 | |
|
Intra
|
DEAF1 | O75398 | MECP2 | Homo sapiens | P51608 | 29636529 | |
|
Intra
|
DEAF1 | O75398 | MECP2 | Homo sapiens | P51608 | 29636529 | |
|
Intra
|
DEAF1 | O75398 | MECP2 | Homo sapiens | P51608 | 29636529 | |
|
Intra
|
DEAF1 | O75398 | XRCC6 | Homo sapiens | P12956 | 22442688 | |
|
Intra
|
DEAF1 | O75398 | XRCC6 | Homo sapiens | P12956 | 22442688 | |
|
Intra
|
DEAF1 | O75398 | TARDBP | Homo sapiens | Q13148 | 32814053 | |
|
Intra
|
DEAF1 | O75398 | TARDBP | Homo sapiens | Q13148 | 32814053 | |
|
Intra
|
DEAF1 | O75398 | TARDBP | Homo sapiens | Q13148 | 32814053 | |
|
Intra
|
DEAF1 | O75398 | GSK3B | Homo sapiens | P49841 | 20368287 | |
|
Intra
|
DEAF1 | O75398 | GSK3B | Homo sapiens | P49841 | 20368287 | |
|
Intra
|
DEAF1 | O75398 | CDKN2A | Homo sapiens | P42771 | 21988832 | |
|
Intra
|
DEAF1 | O75398 | CDKN2A | Homo sapiens | P42771 | 21988832 | |
|
Intra
|
DEAF1 | O75398 | FHL2 | Homo sapiens | Q14192 | 32296183 | |
|
Intra
|
DEAF1 | O75398 | FHL2 | Homo sapiens | Q14192 | 33961781 | |
|
Intra
|
DEAF1 | O75398 | CEP76 | Homo sapiens | Q8TAP6 | 32296183 | |
|
Intra
|
DEAF1 | O75398 | CEP76 | Homo sapiens | Q8TAP6 | 32296183 | |
|
Intra
|
DEAF1 | O75398 | CEP76 | Homo sapiens | Q8TAP6 | 32296183 | |
|
Intra
|
DEAF1 | O75398 | SNCA | Homo sapiens | P37840 | 32814053 | |
|
Intra
|
DEAF1 | O75398 | SNCA | Homo sapiens | P37840 | 32814053 | |
|
Intra
|
DEAF1 | O75398 | SNCA | Homo sapiens | P37840 | 32814053 |
関連疾患
| Diseases | Alias | |
|---|---|---|
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
|
| Vulto-Van Silfhout-De Vries Syndrome |
|
|
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
|
| Smith-Magenis Syndrome |
|
|
| Autism Spectrum Disorder |
|
|
| Autoimmune Polyendocrine Syndrome Type 1 |
|
|
| Epilepsy |
|
|
| Major Depressive Disorder |
|
|
| Microcephaly |
|
|
Orthologs Information
| 生物種 | Symbol | 由来 | ID |
|---|---|---|---|
| Felis catus | DEAF1 | VGNC | VGNC:61422 |
| Mus musculus | DEAF1 | MGD | MGI:1858496 |
| Bos taurus | DEAF1 | VGNC | VGNC:106706 |
| Rattus norvegicus | DEAF1 | RGD | RGD:620671 |
| Canis familiaris | DEAF1 | VGNC | VGNC:39870 |
| Macaca mulatta | DEAF1 | VGNC | VGNC:71624 |
| Others | DEAF1 | NCBI |