| Gene Symbol |
BHLHA15
|
| Entrez Gene |
168620
|
| Alt Symbol |
BHLHB8, MIST1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
basic helix-loop-helix family, member a15
|
| Other Description |
MIST-1|basic helix-loop-helix domain containing, class B, 8|class A basic helix-loop-helix protein 15|class B basic helix-loop-helix protein 8|class II bHLH protein MIST1|muscle, intestine and stomach expression 1
|
| Swissprots |
A4D271 Q14DE4 Q7RTS1
|
| Accessions |
EAL23893 Q7RTS1 BC113394 AAI13395 BC113396 AAI13397 BK000276 DAA01056 BX648200 NM_177455 NP_803238
|
| Function |
Plays a role in controlling the transcriptional activity of MYOD1, ensuring that expanding myoblast populations remain undifferentiated. Repression may occur through muscle-specific E- box occupancy by homodimers. May also negatively regulate bHLH- mediated transcription through an N-terminal repressor domain. Serves as a key regulator of acinar cell function, stability, and identity. Also required for normal organelle localization in exocrine cells and for mitochondrial calcium ion transport. May function as a unique regulator of gene expression in several different embryonic and postnatal cell lineages. Binds to the E- box consensus sequence 5'-CANNTG-3' (By similarity). {ECO:0000250|UniProtKB:Q9QYC3}.
|
| Subcellular Location |
Nucleus {ECO:0000305}.
|
| Tissue Specificity |
Expressed in brain, liver, spleen and skeletal muscle. {ECO:0000269|PubMed:14516699}.
|
| Top Pathways |
Maturity onset diabetes of the young
|