QuickView for Mash1 (gene)

Gene Symbol:

ASCL1 Homo sapiens

Full name:

achaete-scute family bHLH transcription factor 1

Synonyms:

ASH1, HASH1, MASH1, bHLHa46, achaete-scute homolog 1, ASH-1, achaete scute protein, achaete-scute complex homolog 1, achaete-scute complex-like 1, class A basic helix-loop-helix protein 46

Genomic Location:

Chr 12: 101875594-101878421

Description:

This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of ol...

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This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

RTAAACA_FREAC2_01 ,  TTANTCA_UNKNOWN ,  CTACTGT_MIR199A ,  MYCMAX_B ,  GGGAGGRR_MAZ_Q6 ,  TFIII_Q6 ,  CAGGTA_AREB6_01 ,  CATGTAA_MIR496 ,  AP2_Q6_01 ,  HNF3_Q6 ,  SP3_Q3 ,  YGCANTGCR_UNKNOWN ,  GGGCGGR_SP1_Q6 ,  HIF1_Q5 ,  AHR_Q5 ,  KCCGNSWTTT_UNKNOWN ,  YGCGYRCGC_UNKNOWN ,  E2F1_Q3 ,  TGACAGNY_MEIS1_01 ,  P300_01 ,  E2F_Q3 ,  TATTATA_MIR374

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-22 ,  Predicted Gene Targets for miR-369-3p ,  Predicted Gene Targets for miR-374 ,  Predicted Gene Targets for miR-375 ,  Predicted Gene Targets for miR-493-5p ,  Predicted Gene Targets for miR-496

Cytogenetic Map:

12q23.2

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