Q9SUP7
Gene name |
HMGB6 (NFD6, WRKY53, At4g23800, F9D16.270, T32A16.2) |
Protein name |
High mobility group B protein 6 |
Names |
Nucleosome/chromatin assembly factor group D 06, Nucleosome/chromatin assembly factor group D 6, WRKY transcription factor 53, AtWRKY53, WRKY DNA-binding protein 53 |
Species |
Arabidopsis thaliana (Mouse-ear cress) |
KEGG Pathway |
ath:AT4G23800 |
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 Q9SUP7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9SUP7-F1 | Predicted | AlphaFoldDB |
30 variants for Q9SUP7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| tmp_4_12390240_G_A | 5 | A>T | No | 1000Genomes | |
| tmp_4_12390250_C_T | 8 | A>V | No | 1000Genomes | |
| tmp_4_12390363_C_G | 46 | Q>E | No | 1000Genomes | |
| tmp_4_12390388_T_A | 54 | M>K | No | 1000Genomes | |
| ENSVATH06763048 | 67 | E>K | No | 1000Genomes | |
| ENSVATH14289015 | 71 | E>V | No | 1000Genomes | |
| ENSVATH02917520 | 88 | A>V | No | 1000Genomes | |
| tmp_4_12391030_C_T | 127 | A>V | No | 1000Genomes | |
| ENSVATH06763063 | 137 | E>Q | No | 1000Genomes | |
| ENSVATH06763064 | 146 | V>I | No | 1000Genomes | |
| ENSVATH06763065 | 154 | T>I | No | 1000Genomes | |
| ENSVATH02917524 | 156 | V>I | No | 1000Genomes | |
| tmp_4_12391126_A_G | 159 | E>G | No | 1000Genomes | |
| ENSVATH02917525 | 166 | K>R | No | 1000Genomes | |
| ENSVATH06763066 | 172 | L>M | No | 1000Genomes | |
| ENSVATH02917526 | 180 | S>T | No | 1000Genomes | |
| ENSVATH12184599 | 213 | K>Q | No | 1000Genomes | |
| tmp_4_12391372_A_C | 241 | D>A | No | 1000Genomes | |
| tmp_4_12391374_A_T | 242 | N>Y | No | 1000Genomes | |
| tmp_4_12391555_A_T | 276 | E>V | No | 1000Genomes | |
| ENSVATH06763072 | 298 | K>N | No | 1000Genomes | |
| tmp_4_12391871_G_C | 326 | E>Q | No | 1000Genomes | |
| tmp_4_12391877_G_A | 328 | A>T | No | 1000Genomes | |
| tmp_4_12391883_A_T | 330 | S>C | No | 1000Genomes | |
| ENSVATH06763074 | 338 | L>F | No | 1000Genomes | |
| tmp_4_12392116_A_G | 378 | K>R | No | 1000Genomes | |
| tmp_4_12392118_C_G | 379 | P>A | No | 1000Genomes | |
| ENSVATH06763076 | 382 | P>R | No | 1000Genomes | |
| tmp_4_12392410_A_G | 422 | E>G | No | 1000Genomes | |
| tmp_4_12392473_T_G | 443 | V>G | No | 1000Genomes |
1 associated diseases with Q9SUP7
[MIM: 617156]: Mitochondrial DNA depletion syndrome 15, hepatocerebral type (MTDPS15)
An autosomal recessive mitochondrial disorder characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle. Hepatic pathology includes cirrhosis, steatosis and cholestasis. Progression to liver failure and death is rapid with no evidence of neurological impairment or other organ involvement. {ECO:0000269|PubMed:27448789}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive mitochondrial disorder characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle. Hepatic pathology includes cirrhosis, steatosis and cholestasis. Progression to liver failure and death is rapid with no evidence of neurological impairment or other organ involvement. {ECO:0000269|PubMed:27448789}. Note=The disease is caused by variants affecting the gene represented in this entry.
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 | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA-binding transcription factor activity | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q32L34 | HMGB4 | High mobility group protein B4 | Bos taurus (Bovine) | PR |
| Q0II87 | TFAM | Transcription factor A, mitochondrial | Bos taurus (Bovine) | PR |
| Q00059 | TFAM | Transcription factor A, mitochondrial | Homo sapiens (Human) | PR |
| P17480 | UBTF | Nucleolar transcription factor 1 | Homo sapiens (Human) | EV |
| P40630 | Tfam | Transcription factor A, mitochondrial | Mus musculus (Mouse) | PR |
| Q3USZ2 | Ubtfl1 | Upstream-binding factor 1-like protein 1 | Mus musculus (Mouse) | PR |
| P25976 | Ubtf | Nucleolar transcription factor 1 | Mus musculus (Mouse) | PR |
| Q5D144 | TFAM | Transcription factor A, mitochondrial | Sus scrofa (Pig) | PR |
| P25977 | Ubtf | Nucleolar transcription factor 1 | Rattus norvegicus (Rat) | PR |
| Q9T012 | HMGB13 | High mobility group B protein 13 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATNADPAPT | KKPRNSRKAL | KQKNELVETP | PSPVSVKGKS | AKSFEQDLME | MQTMLEKMKI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EKDKTEELLK | EKDEILRKKE | EELETRDAEQ | EKLKVELKKL | QKMKEFKPNM | TFACGQSSLT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QAEQEKANKK | KKKDCPETKR | PSSSYVLWCK | DQWTEVKKEN | PEADFKETSN | ILGAKWKSLS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AEDKKPYEER | YQVEKEAYLQ | VIAKEKREKE | AMKLLEDDQK | QRTAMELLDQ | YLNFVQEAEQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DNKKKNKKEK | DPLKPKHPVS | AFLVYANERR | AALREENKSV | VEVAKITGEE | WKNLSDKKKA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PYEKVAKKNK | ETYLQAMEEY | KRTKEEEALS | QKKEEEELLK | LHKQEALQML | KKKEKTDNLI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KKEKATKKKK | NENVDPNKPK | KPASSYFLFS | KDERKKLTEE | RPGTNNATVT | ALISLKWKEL |
| 430 | 440 | 450 | |||
| SEEEKQVYNG | KAAKLMEAYK | KEVEAYNKKS | AATTSS |