• Gene id: 168620

Gene Summary

• Gene Symbol: BHLHA15   Gene   UCSC   Ensembl
• Aliases: BHLHB8, MIST1
• Gene name: basic helix-loop-helix family member a15
• Alternate names: class A basic helix-loop-helix protein 15, MIST-1, basic helix-loop-helix domain containing, class B, 8, class B basic helix-loop-helix protein 8, class II bHLH protein MIST1, muscle, intestine and stomach expression 1,
• Gene location: 7q21.3 (98212253: 98212958)     Exons: 1     NC_000007.14
• OMIM: 608606

Protein Summary

• Protein general information: Q7RTS1  
  • Name: Class A basic helix loop helix protein 15 (bHLHa15) (Class B basic helix loop helix protein 8) (bHLHb8) (Muscle, intestine and stomach expression 1) (MIST 1)
  • Length: 189  
  • Mass: 20818
  • Tissue specificity: Expressed in brain, liver, spleen and skeletal muscle. {ECO
• Sequence:

  MKTKNRPPRRRAPVQDTEATPGEGTPDGSLPNPGPEPAKGLRSRPARAAARAPGEGRRRRPGPSGPGGRRDSSIQ
  RRLESNERERQRMHKLNNAFQALREVIPHVRADKKLSKIETLTLAKNYIKSLTATILTMSSSRLPGLEGPGPKLY
  QHYQQQQQVAGGALGATEAQPQGHLQRYSTQIHSFREGT

• Structural information:
  • Protein Domains: (75..12-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR036638  
  • Prosite: PS50888
  • CDD: cd00083
  • STRING: ENSP00000476312
• Other Databases: GeneCards:  BHLHA15  Malacards:  BHLHA15

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0030968	endoplasmic reticulum unfolded protein response	ISS	biological process
GO:0042149	cellular response to glucose starvation	ISS	biological process
GO:0010832	negative regulation of myotube differentiation	ISS	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0042593	glucose homeostasis	IEA	biological process
GO:0042149	cellular response to glucose starvation	IEA	biological process
GO:0030968	endoplasmic reticulum unfolded protein response	IEA	biological process
GO:0010832	negative regulation of myotube differentiation	IEA	biological process
GO:0007267	cell-cell signaling	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0048469	cell maturation	IEA	biological process
GO:0048312	intracellular distribution of mitochondria	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0019722	calcium-mediated signaling	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0007030	Golgi organization	IEA	biological process
GO:0006851	mitochondrial calcium ion transmembrane transport	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04950	Maturity onset diabetes of the young

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq