Q98875
Gene name |
dlx1a (dlx1) |
Protein name |
Homeobox protein Dlx1a |
Names |
DLX-1, Distal-less homeobox gene 1a |
Species |
Danio rerio (Zebrafish) (Brachydanio rerio) |
KEGG Pathway |
dre:30568 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q98875
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q98875-F1 | Predicted | AlphaFoldDB |
No variants for Q98875
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| No variants for Q98875 | |||||
1 associated diseases with Q98875
[MIM: 600348]: Band heterotopia (BH)
A brain malformation of the lissencephaly spectrum, resulting from disordered neuronal migration and characterized by bands of gray matter interposed in the central white matter. Disease features include severe developmental delay with intellectual disability, enlarged head circumference, periventricular and ribbon-like subcortical heterotopia, polymicrogyria and agenesis of the corpus callosum. {ECO:0000269|PubMed:24859200, ECO:0000269|PubMed:28556411}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A brain malformation of the lissencephaly spectrum, resulting from disordered neuronal migration and characterized by bands of gray matter interposed in the central white matter. Disease features include severe developmental delay with intellectual disability, enlarged head circumference, periventricular and ribbon-like subcortical heterotopia, polymicrogyria and agenesis of the corpus callosum. {ECO:0000269|PubMed:24859200, ECO:0000269|PubMed:28556411}. Note=The disease is caused by variants affecting the gene represented in this entry.
11 regional properties for Q98875
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 260 - 309 | IPR001680-1 |
| repeat | WD40 repeat | 312 - 357 | IPR001680-2 |
| repeat | WD40 repeat | 360 - 399 | IPR001680-3 |
| repeat | WD40 repeat | 407 - 445 | IPR001680-4 |
| repeat | WD40 repeat | 448 - 488 | IPR001680-5 |
| repeat | WD40 repeat | 528 - 571 | IPR001680-6 |
| repeat | WD40 repeat | 574 - 612 | IPR001680-7 |
| repeat | WD40 repeat | 615 - 654 | IPR001680-8 |
| repeat | WD40 repeat | 661 - 700 | IPR001680-9 |
| repeat | WD40 repeat | 773 - 815 | IPR001680-10 |
| domain | HELP | 188 - 259 | IPR005108 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| cartilage development | The process whose specific outcome is the progression of a cartilage element over time, from its formation to the mature structure. Cartilage elements are skeletal elements that consist of connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. |
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| embryonic viscerocranium morphogenesis | The process in which the anatomical structures of the viscerocranium are generated and organized during the embryonic phase. The viscerocranium is the part of the skull comprising the facial bones. |
| negative regulation of photoreceptor cell differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of photoreceptor cell differentiation. An example of this process is found in Drosophila melanogaster. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| positive regulation of amacrine cell differentiation | Any process that activates or increases the frequency, rate or extent of amacrine cell differentiation. |
| positive regulation of cell differentiation | Any process that activates or increases the frequency, rate or extent of cell differentiation. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
14 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P50577 | DLX5 | Homeobox protein DLX-5 | Gallus gallus (Chicken) | PR |
| O60479 | DLX3 | Homeobox protein DLX-3 | Homo sapiens (Human) | PR |
| P56179 | DLX6 | Homeobox protein DLX-6 | Homo sapiens (Human) | PR |
| Q99801 | NKX3-1 | Homeobox protein Nkx-3.1 | Homo sapiens (Human) | PR |
| P70396 | Dlx5 | Homeobox protein DLX-5 | Mus musculus (Mouse) | PR |
| Q64205 | Dlx3 | Homeobox protein DLX-3 | Mus musculus (Mouse) | PR |
| P70397 | Dlx6 | Homeobox protein DLX-6 | Mus musculus (Mouse) | PR |
| P50575 | Dlx5 | Homeobox protein DLX-5 | Rattus norvegicus (Rat) | PR |
| Q9FN29 | ATHB-52 | Homeobox-leucine zipper protein ATHB-52 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P46603 | HAT9 | Homeobox-leucine zipper protein HAT9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9M276 | ATHB-12 | Homeobox-leucine zipper protein ATHB-12 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q98878 | dlx4b | Homeobox protein Dlx4b | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| P50574 | dlx2a | Homeobox protein Dlx2a | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q01702 | dlx3b | Homeobox protein Dlx3b | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTMSTIPESL | NSPVSGKSVF | MEFGPPSQQM | SPSSMTHGHY | SMHCLHSSGH | PQHDSAYSPA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PSFPRSLPYP | YVNSVGSHSS | SPYLSTVQTY | PNNSALAQTR | LEDPAPESEK | NTVVEGGEVR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FNGKGKKIRK | PRTIYSSLQL | QALNRRFQQT | QYLALPERAE | LAASLGLTQT | QVKIWFQNKR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SKFKKLMKQG | GGTIDTNALA | NGRGLSTGSP | SVAPVWNTTA | TVKTSTPTSY | IPSYTSWYPT |
| 250 | |||||
| AHQDTMQQPQ | LM |