Q804T6
Gene name |
dixdc1a (ccd1, dixdc1) |
Protein name |
Dixin-A |
Names |
Coiled-coil protein DIX1-A , Coiled-coil-DIX1-A , DIX domain-containing protein 1-A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
dre:360137 |
EC number |
|
Protein Class |
NUCLEAR FACTOR NF-KAPPA-B PROTEIN (PTHR24169) |
Descriptions
The inducible transcription factor NF-kB (nuclear factor kB) is responsible for regulating the expression of a wide variety of genes. The most abundant form of the protein is a heterodimer of p50 and p65 subunits, in which the p65 subunit (RELA) contains the transcriptional activation domain. Full-length RELA does not bind efficiently to DNA, but a shorter fragment lacking the C-terminal sequence binds to DNA with high affinity. Binding assay revealed that the C-terminal region interacts with the N-terminal region for the autoinhibition of N-terminal domain. The C-terminal region contains a CBP binding site and the binding of CBP to RELA enhances the transcriptional activity of RELA.
Autoinhibitory domains (AIDs)
Target domain |
407-416 (β3-β4 loop) |
Relief mechanism |
Partner binding, PTM |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for Q804T6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5Y3C | X-ray | 196 A | A | 356-438 | PDB |
| AF-Q804T6-F1 | Predicted | AlphaFoldDB |
No variants for Q804T6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| No variants for Q804T6 | |||||
2 associated diseases with Q804T6
[MIM: 618287]: Mucocutaneous ulceration, chronic (CMCU)
An autosomal dominant, mucocutaneous disease characterized by chronic mucosal lesions, in absence of recurrent infections. {ECO:0000269|PubMed:28600438}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant, mucocutaneous disease characterized by chronic mucosal lesions, in absence of recurrent infections. {ECO:0000269|PubMed:28600438}. Note=The disease may be caused by variants affecting the gene represented in this entry.
6 regional properties for Q804T6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | IPT domain | 193 - 289 | IPR002909 |
| domain | Rel homology domain, DNA-binding domain | 16 - 190 | IPR011539 |
| conserved_site | Rel homology domain, conserved site | 34 - 40 | IPR030492 |
| domain | Transcription factor p65, RHD domain, N-terminal | 19 - 187 | IPR030495 |
| domain | Rel homology dimerisation domain | 195 - 291 | IPR032397 |
| domain | NFkappaB IPT domain | 194 - 290 | IPR033926 |
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR24169 | NUCLEAR FACTOR NF-KAPPA-B PROTEIN |
| PANTHER Subfamily | PTHR24169:SF1 | TRANSCRIPTION FACTOR P65 |
| PANTHER Protein Class |
DNA-binding transcription factor
Rel homology transcription factor immunoglobulin fold transcription factor |
|
| PANTHER Pathway Category |
Inflammation mediated by chemokine and cytokine signaling pathway NFkappaB Gonadotropin-releasing hormone receptor pathway p65 Toll receptor signaling pathway NFkappaB Apoptosis signaling pathway NFkappaB |
|
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| frizzled binding | Binding to a frizzled (fz) receptor. |
| identical protein binding | Binding to an identical protein or proteins. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| camera-type eye development | The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. |
| canonical Wnt signaling pathway | The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. In this pathway, the activated receptor signals via downstream effectors that result in the inhibition of beta-catenin phosphorylation, thereby preventing degradation of beta-catenin. Stabilized beta-catenin can then accumulate and travel to the nucleus to trigger changes in transcription of target genes. |
| forebrain development | The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions). |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDELFPLIFP | AEPAQASGPY | VEIIEQPKQR | GMRFRYKCEG | RSAGSIPGER | STDTTKTHPT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IKINGYTGPG | TVRISLVTKD | PPHRPHPHEL | VGKDCRDGFY | EAELCPDRCI | HSFQNLGIQC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VKKRDLEQAI | SQRIQTNNNP | FQVPIEEQRG | DYDLNAVRLC | FQVTVRDPSG | RPLRLPPVLS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HPIFDNRAPN | TAELKICRVN | RNSGSCLGGD | EIFLLCDKVQ | KEDIEVYFTG | PGWEARGSFS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QADVHRQVAI | VFRTPPYADP | SLQAPVRVSM | QLRRPSDREL | SEPMEFQYLP | DTDDRHRIEE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KRKRTYETFK | SIMKKSPFSG | PTDPRPPPRR | IAVPSRSSAS | VPKPAPQPYP | FTSSLSTINY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DEFPTMVFPS | GQISQASALA | PAPPQVLPQA | PAPAPAPAMV | SALAQAPAPV | PVLAPGPPQA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VAPPAPKPTQ | AGEGTLSEAL | LQLQFDDEDL | GALLGNSTDP | AVFTDLASVD | NSEFQQLLNQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GIPVAPHTTE | PMLMEYPEAI | TRLVTGAQRP | PDPAPAPLGA | PGLPNGLLSG | DEDFSSIADM |
| 550 | |||||
| DFSALLSQIS | S |