Q00970
Gene name |
MGM101 (KLLA0B03740g) |
Protein name |
Mitochondrial genome maintenance protein MGM101 |
Names |
|
Species |
Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37) (Yeast) (Candida sphaerica) |
KEGG Pathway |
kla:KLLA0_B03740g |
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 Q00970
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q00970-F1 | Predicted | AlphaFoldDB |
No variants for Q00970
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| No variants for Q00970 | |||||
1 associated diseases with Q00970
[MIM: 212066]: Congenital disorder of glycosylation 2A (CDG2A)
A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269|PubMed:11228641, ECO:0000269|PubMed:8808595}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269|PubMed:11228641, ECO:0000269|PubMed:8808595}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q00970
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q00970 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrial chromosome | A chromosome found in the mitochondrion of a eukaryotic cell. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| single-stranded DNA binding | Binding to single-stranded DNA. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| interstrand cross-link repair | Removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication. |
| mitochondrial genome maintenance | The maintenance of the structure and integrity of the mitochondrial genome; includes replication and segregation of the mitochondrial chromosome. |
| recombinational repair | A DNA repair process that involves the exchange, reciprocal or nonreciprocal, of genetic material between the broken DNA molecule and a homologous DNA region. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLGFRHVIRA | TSKRFATSGT | SMVRKTVTSG | NSNAIRSATS | NVVPPASSAA | AASAPSTIKR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VPGYNKTLED | SLNGTILENP | VETQATQSSN | EINWYTSYHG | IGSKPFSDET | QNALSSALNA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DDIEIKPDGL | IYLPEIKYRR | ILNKAFGPGG | WGLVPRSETI | VTAKLVTREY | ALVCHGQMVS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IARGEQDYFS | ETGIPTATEG | CKSNALMRCC | KDLGIGSELW | DPVFIKQYKK | KHCTEKFVEH |
| 250 | 260 | ||||
| VTTKKKKKIW | LRKDREVEYP | YK |