Q00059
PR
Gene name |
TFAM |
Protein name |
Transcription factor A, mitochondrial |
Names |
mtTFA, Mitochondrial transcription factor 1, MtTF1, Transcription factor 6, TCF-6, Transcription factor 6-like 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7019 |
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
12 structures for Q00059
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3FGH | X-ray | 135 A | A | 153-218 | PDB |
| 3TMM | X-ray | 250 A | A | 43-246 | PDB |
| 3TQ6 | X-ray | 245 A | A/B | 43-246 | PDB |
| 4NNU | X-ray | 281 A | A/B | 43-237 | PDB |
| 4NOD | X-ray | 290 A | A/B/G/H | 43-237 | PDB |
| 6ERP | X-ray | 450 A | C/G | 43-245 | PDB |
| 6ERQ | X-ray | 450 A | C/G | 43-245 | PDB |
| 6HB4 | X-ray | 305 A | A/D/G/J | 42-246 | PDB |
| 6HC3 | X-ray | 310 A | A/D/G/J | 34-246 | PDB |
| 7LBW | X-ray | 284 A | A/B | 43-246 | PDB |
| 7LBX | X-ray | 270 A | A/B | 43-246 | PDB |
| AF-Q00059-F1 | Predicted | AlphaFoldDB |
183 variants for Q00059
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000256433 RCV000239740 CA5507988 rs757075712 VAR_077842 |
178 | P>L | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) Mitochondrial DNA depletion syndrome, hepatocerebral form MTDPS15 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs774009575 CA5508064 RCV001201404 COSM919154 |
232 | R>C | Variant assessed as Somatic; 0.0 impact. Sensorineural hearing loss disorder endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1448492458 CA377057677 |
4 | L>V | No |
ClinGen TOPMed |
|
|
rs1308514905 CA377057684 |
5 | R>Q | No |
ClinGen gnomAD |
|
|
CA377057692 rs1350851808 |
6 | S>T | No |
ClinGen gnomAD |
|
|
rs1355238441 CA377057700 |
7 | M>I | No |
ClinGen gnomAD |
|
|
rs200473819 CA5507849 |
7 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377057696 rs1247582808 |
7 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5507850 rs753553110 |
9 | G>V | No |
ClinGen ExAC TOPMed |
|
|
rs756889032 CA5507852 |
10 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5507851 rs756889032 |
10 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000830168 rs1937 VAR_016124 CA5507853 |
12 | S>T | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5507854 rs758649930 |
13 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309189919 CA377057746 |
15 | G>E | No |
ClinGen TOPMed |
|
|
CA5507856 rs747416899 |
17 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 17 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1369228138 CA377057766 |
18 | G>A | No |
ClinGen gnomAD |
|
|
CA208039772 rs1053535457 |
19 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1161183459 CA377057779 |
20 | E>D | No |
ClinGen gnomAD |
|
|
CA208039773 rs868658761 |
21 | L>M | No |
ClinGen gnomAD |
|
|
CA377057780 rs868658761 |
21 | L>V | No |
ClinGen gnomAD |
|
|
CA208039774 rs865956941 |
22 | C>* | No |
ClinGen Ensembl |
|
|
rs1466004823 CA377057796 |
23 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA377057797 rs1364727332 |
24 | G>S | No |
ClinGen TOPMed |
|
|
CA377057810 rs1589010404 |
25 | C>W | No |
ClinGen Ensembl |
|
|
rs1454069231 CA377057818 |
27 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA377057823 rs1589010422 |
27 | S>R | No |
ClinGen Ensembl |
|
|
rs1443531669 CA377057821 |
27 | S>T | No |
ClinGen TOPMed |
|
|
CA208039776 rs199678369 |
28 | R>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA377057836 rs1242181858 |
30 | R>C | No |
ClinGen gnomAD |
|
|
CA377057837 rs548586049 |
30 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs548586049 CA5507859 |
30 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA208039777 rs893095238 |
31 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs981401413 CA208039778 |
32 | P>R | No |
ClinGen gnomAD |
|
|
rs924403325 CA208039779 |
33 | F>I | No |
ClinGen Ensembl |
|
|
CA377057852 rs1183604281 |
33 | F>S | No |
ClinGen gnomAD |
|
|
CA377057883 rs1564566994 |
35 | F>L | No |
ClinGen Ensembl |
|
|
rs780218379 CA5507872 |
36 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780218379 CA5507873 |
36 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5507874 rs772690212 |
37 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA5507875 rs377453233 |
38 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377057903 rs1179938367 |
39 | P>S | No |
ClinGen gnomAD |
|
|
CA377057918 rs1231107993 |
41 | W>S | No |
ClinGen gnomAD |
|
|
rs1589010822 CA377057924 |
42 | F>L | No |
ClinGen Ensembl |
|
|
CA377057945 rs1488707981 |
45 | V>F | No |
ClinGen gnomAD |
|
|
CA377057949 rs1228856233 |
46 | L>M | No |
ClinGen TOPMed |
|
|
CA5507879 rs376618691 |
47 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1307481125 CA377057965 |
48 | S>N | No |
ClinGen TOPMed |
|
|
rs966122404 CA208039859 COSM919151 |
51 | K>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1191611982 CA377058016 |
55 | S>N | No |
ClinGen gnomAD |
|
|
rs530418879 CA5507881 |
56 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5507882 rs775130986 |
58 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 60 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 61 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 61 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1414155796 CA377058060 |
62 | K>R | No |
ClinGen TOPMed |
|
|
rs138243284 CA5507885 |
67 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 68 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761334327 CA5507886 |
68 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5507887 rs764594695 |
70 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1174942412 CA377058123 |
71 | Q>H | No |
ClinGen TOPMed |
|
|
rs772922399 CA5507889 |
73 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5507910 rs772585241 |
74 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs772585241 CA377058154 |
74 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs762718172 CA5507911 |
75 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5507912 rs765920008 |
77 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs760004942 CA5507914 |
80 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5507915 rs767922656 |
82 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA377058230 rs1343125160 |
83 | R>G | No |
ClinGen gnomAD |
|
|
CA377058246 rs1326873594 |
84 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 85 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5507916 rs753320102 |
87 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA5507917 rs545971951 |
87 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377058273 rs753320102 |
87 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA5507918 rs368202705 |
93 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377058351 rs368202705 |
93 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1278611997 CA377058362 |
94 | S>* | No |
ClinGen gnomAD |
|
|
CA5507919 rs376754701 |
94 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1365235627 CA377058367 |
95 | K>E | No |
ClinGen TOPMed |
|
|
CA377058379 rs376044834 |
95 | K>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5507920 rs757317619 |
97 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 98 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs959086371 CA208040084 |
99 | Y>F | No |
ClinGen TOPMed |
|
|
CA5507939 rs151097728 |
100 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs537283161 CA5507940 |
105 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5507941 rs537283161 |
105 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM271556 rs758607553 CA5507942 |
105 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs149704158 CA5507944 |
108 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5507946 rs77418790 |
109 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs570779709 CA5507945 |
109 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377058645 rs1589012104 |
110 | Y>* | No |
ClinGen Ensembl |
|
|
rs770411113 CA5507948 |
111 | K>E | No |
ClinGen ExAC |
|
|
rs778549899 CA5507949 |
112 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA377058677 rs1421672515 |
113 | E>K | No |
ClinGen gnomAD |
|
|
rs1589012124 CA377058704 |
114 | I>R | No |
ClinGen Ensembl |
|
|
rs868175464 CA208040086 |
120 | Q>K | No |
ClinGen Ensembl |
|
|
rs1159445193 CA377058789 |
122 | T>A | No |
ClinGen gnomAD |
|
|
CA377058804 rs1380264671 |
123 | P>R | No |
ClinGen gnomAD |
|
|
CA5507951 rs771816601 |
123 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775241728 CA5507952 |
126 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 128 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1331547022 CA377059053 |
133 | I>T | No |
ClinGen gnomAD |
|
|
rs1355184416 CA377059060 |
134 | M>I | No |
ClinGen gnomAD |
|
|
CA208040087 rs760968829 |
134 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760968829 CA5507953 |
134 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224731028 CA377059057 |
134 | M>V | No |
ClinGen TOPMed |
|
|
rs534877353 CA5507954 |
135 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5507955 rs777009100 |
137 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA377059079 rs777009100 |
137 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs762377043 CA5507956 |
139 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1203689156 CA377059101 |
140 | R>K | No |
ClinGen gnomAD |
|
|
rs1193551941 CA377059117 |
142 | A>D | No |
ClinGen gnomAD |
|
|
rs1452603557 CA377059114 |
142 | A>T | No |
ClinGen gnomAD |
|
|
COSM1128029 rs553009666 CA5507958 |
143 | M>I | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA377059123 rs1441600403 |
143 | M>K | No |
ClinGen gnomAD |
|
|
CA377059121 rs1272390614 |
143 | M>V | No |
ClinGen TOPMed |
|
|
CA5507962 rs140210748 |
144 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
CA377059149 rs1564567817 |
146 | K>N | No |
ClinGen Ensembl |
|
| rs544132101 | 147 | K>R | Variant assessed as Somatic; 8.998e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs544132101 | 148 | E>S | Variant assessed as Somatic; 0.01287 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1297598421 CA377059182 |
149 | L>S | No |
ClinGen gnomAD |
|
|
rs1239251279 CA377059187 |
150 | T>A | No |
ClinGen TOPMed |
|
|
rs1393686094 CA377059190 |
150 | T>R | No |
ClinGen gnomAD |
|
| TCGA novel | 151 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1339532087 CA377059233 |
157 | R>K | No |
ClinGen gnomAD |
|
|
CA377059245 rs1375212511 |
159 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1233013901 CA377059247 |
159 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA377059280 rs1285830482 |
164 | V>I | No |
ClinGen TOPMed |
|
|
rs1320554612 CA377059308 |
168 | E>V | No |
ClinGen gnomAD |
|
|
CA377059319 rs1163208695 |
170 | F>V | No |
ClinGen gnomAD |
|
|
rs1359127924 CA377059365 |
176 | D>H | No |
ClinGen TOPMed |
|
|
CA377059379 rs1392323641 |
178 | P>S | No |
ClinGen gnomAD |
|
|
CA5508010 rs368318857 |
181 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5508011 rs751057063 |
182 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs780926194 CA377059445 |
186 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs780926194 CA5508013 |
186 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs911122726 CA208040699 |
187 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs867404258 CA208040700 |
192 | L>M | No |
ClinGen Ensembl |
|
| TCGA novel | 193 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5508015 rs565914185 |
194 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778094405 CA5508016 |
195 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377059509 rs778094405 |
195 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1039019014 CA208040701 |
196 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA377059547 rs1404693497 |
199 | L>V | No |
ClinGen TOPMed |
|
|
rs757657004 CA5508054 |
200 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA377059588 rs1189025740 |
204 | A>V | No |
ClinGen gnomAD |
|
|
rs779133915 CA5508055 |
205 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420913484 CA377059616 |
208 | E>A | No |
ClinGen gnomAD |
|
|
rs758801225 CA5508057 |
208 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA377059620 rs1409405857 |
209 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 209 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377059627 rs1233898876 |
210 | R>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 210 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1361050656 CA377059644 |
212 | H>R | No |
ClinGen gnomAD |
|
|
CA5508059 rs372832206 |
213 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755067533 CA5508060 COSM3415127 |
215 | M>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs373226874 CA208040745 |
219 | E>G | No |
ClinGen ESP |
|
|
rs56065792 CA208040744 |
219 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 220 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781567014 CA5508061 |
223 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA377059735 rs1401666337 |
224 | E>V | No |
ClinGen gnomAD |
|
|
CA5508062 rs748258782 |
225 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs770814394 CA5508063 |
228 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745854110 CA5508065 |
232 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs145270469 CA5508066 |
233 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1317447 CA5508067 rs375752119 |
233 | R>H | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs760185478 CA5508068 |
234 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377059794 rs1243163153 |
235 | I>V | No |
ClinGen gnomAD |
|
|
rs1589015127 CA377059819 |
238 | Q>P | No |
ClinGen Ensembl |
|
|
rs778811926 CA5508070 |
239 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA377059825 rs1200226416 |
239 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5508072 rs765674644 |
241 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 241 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377059844 rs1476434272 |
242 | G>S | No |
ClinGen gnomAD |
|
|
CA5508074 rs758739558 |
242 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs745732580 CA5508075 |
243 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 244 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377059865 rs1564569635 |
245 | E>G | No |
ClinGen Ensembl |
|
|
rs1325726688 CA377059861 |
245 | E>K | No |
ClinGen gnomAD |
|
|
CA5508077 rs755120398 |
246 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA377059869 rs755120398 |
246 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs570508074 CA5508078 |
246 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377059880 rs1202462610 |
247 | C>Y | No |
ClinGen TOPMed |
1 associated diseases with Q00059
[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.
2 regional properties for Q00059
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | High mobility group box domain | 49 - 119 | IPR009071-1 |
| domain | High mobility group box domain | 154 - 220 | IPR009071-2 |
6 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. |
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
| mitochondrial nucleoid | The region of a mitochondrion to which the DNA is confined. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| 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. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| DNA binding, bending | The activity of binding selectively and non-covalently to and distorting the original structure of DNA, typically a straight helix, into a bend, or increasing the bend if the original structure was intrinsically bent due to its sequence. |
| heat shock protein binding | Binding to a heat shock protein, a protein synthesized or activated in response to heat shock. |
| mitochondrial promoter sequence-specific DNA binding | Binding to a DNA region that controls the transcription of the mitochondrial DNA. |
| mitochondrial transcription factor activity | Interacting with the mitochondrial promoter DNA to modulate transcription by the mitochondrial RNA polymerase. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| sequence-specific DNA binding | Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding. |
| transcription cis-regulatory region binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon. |
| transcription coactivator binding | Binding to a transcription coactivator, a protein involved in positive regulation of transcription via protein-protein interactions with transcription factors and other proteins that positively regulate transcription. Transcription coactivators do not bind DNA directly, but rather mediate protein-protein interactions between activating transcription factors and the basal transcription machinery. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| mitochondrial respiratory chain complex assembly | The aggregation, arrangement and bonding together of a set of components to form a mitochondrial respiratory chain complex. |
| mitochondrial transcription | The synthesis of RNA from a mitochondrial DNA template, usually by a specific mitochondrial RNA polymerase. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| transcription initiation at mitochondrial promoter | A transcription initiation process that takes place at a promoter on the mitochondrial chromosome. |
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 |
| P17480 | UBTF | Nucleolar transcription factor 1 | Homo sapiens (Human) | EV |
| Q3USZ2 | Ubtfl1 | Upstream-binding factor 1-like protein 1 | Mus musculus (Mouse) | PR |
| P25976 | Ubtf | Nucleolar transcription factor 1 | Mus musculus (Mouse) | PR |
| P40630 | Tfam | Transcription factor A, mitochondrial | 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 |
| Q9SUP7 | HMGB6 | High mobility group B protein 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAFLRSMWGV | LSALGRSGAE | LCTGCGSRLR | SPFSFVYLPR | WFSSVLASCP | KKPVSSYLRF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SKEQLPIFKA | QNPDAKTTEL | IRRIAQRWRE | LPDSKKKIYQ | DAYRAEWQVY | KEEISRFKEQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LTPSQIMSLE | KEIMDKHLKR | KAMTKKKELT | LLGKPKRPRS | AYNVYVAERF | QEAKGDSPQE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KLKTVKENWK | NLSDSEKELY | IQHAKEDETR | YHNEMKSWEE | QMIEVGRKDL | LRRTIKKQRK |
| YGAEEC |