| URN | urn:agi-llid:388962 |
|---|---|
| Total Entities | 0 |
| Connectivity | 9 |
| Name | Bola3 |
| Description | bolA family member 3 |
| Notes | This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046). [provided by RefSeq, Dec 2011] |
| GO Cellular Component | extracellular region |
|---|
| Pathway | mitochondrial iron-sulfur cluster protein biogenesis pathway |
|---|
| Group | extracellular region |
|---|
| LocusLink ID | 388962 |
|---|---|
| 78653 | |
| 297388 |
| Cell Localization | Secreted |
|---|
| GO ID | 0005576 |
|---|
| Alias | MMDS2 |
|---|---|
| bolA-like protein 3 | |
| bolA homolog 3 | |
| 1810056O20Rik | |
| RGD1305975 | |
| OTTMUSP00000033503 | |
| bolA-like 3 (E. coli) | |
| OTTMUSP00000033502 | |
| LOC388962 | |
| bola-like III | |
| bola3 | |
| bolA homolog 3 (E. coli) | |
| 1810056O20 | |
| bola-like 3 |
| Mouse chromosome position | 6 |
|---|
| OMIM ID | 613183 |
|---|---|
| 614299 |
| Rat chromosome position | 4q34 |
|---|
| Hugo ID | 24415 |
|---|
| Human chromosome position | 2p13.1 |
|---|
| Swiss-Prot Accession | Q53S33 |
|---|---|
| Q8N338 | |
| Q14A77 | |
| Q8CEI1 | |
| D3ZT98 | |
| G3XAB0 |
| Unigene ID | Hs.61472 |
|---|---|
| Mm.391470 | |
| Rn.13809 |
| KEGG ID | hsa:388962 |
|---|---|
| mmu:78653 | |
| rno:297388 |
| Swiss-Prot ID | BOLA3_MOUSE |
|---|---|
| BOLA3_HUMAN |
| Ensembl ID | ENSG00000163170 |
|---|---|
| ENSP00000295326 | |
| ENST00000295326 | |
| ENSP00000331369 | |
| ENST00000327428 | |
| ENSRNOG00000021866 | |
| ENSRNOP00000030813 | |
| ENSRNOT00000031583 |
| Homologene ID | 5288 |
|---|
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| MGI ID | 1925903 |
|---|
| RGD ID | 1305975 |
|---|
| MedScan ID | 388962 |
|---|