BHLHA15 basic helix-loop-helix family member a15 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BHLHA15provided by HGNC
Official Full Name: basic helix-loop-helix family member a15provided by HGNC
Primary source: HGNC:HGNC:22265
See related: Ensembl:ENSG00000180535 MIM:608606; AllianceGenome:HGNC:22265
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MIST1; BHLHB8
Summary: Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in several processes, including cellular response to glucose starvation; negative regulation of myotube differentiation; and neuron differentiation. Predicted to act upstream of or within several processes, including cell-cell adhesion mediated by cadherin; intracellular distribution of mitochondria; and type B pancreatic cell maturation. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: mouse all
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Genomic context

Location:: 7q21.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (98211439..98215457)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (99441577..99445595)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (97840751..97844769)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DDX56 transcriptionally activates MIST1 to facilitate tumorigenesis of HCC through PTEN-AKT signaling.
Title: DDX56 transcriptionally activates MIST1 to facilitate tumorigenesis of HCC through PTEN-AKT signaling.
Diffuse MIST1 expression and decreased alpha1,4-linked N-acetylglucosamine (alphaGlcNAc) glycosylation on MUC6 are distinct hallmarks for gastric neoplasms showing oxyntic gland differentiation.
Title: Diffuse MIST1 expression and decreased α1,4-linked N-acetylglucosamine (αGlcNAc) glycosylation on MUC6 are distinct hallmarks for gastric neoplasms showing oxyntic gland differentiation.
Clinical Significance of Tumour CD44v and MIST1 Expression in Patients With Non-small-cell Lung Cancer.
Title: Clinical Significance of Tumour CD44v and MIST1 Expression in Patients With Non-small-cell Lung Cancer.
High MIST1 expression is associated with lymph node metastasis in Gastric cancer.
Title: Expression of LGR5, FZD7, TROY, and MIST1 in Perioperatively Treated Gastric Carcinomas and Correlation with Therapy Response.
Mist1 is a sensitive marker for serous acinar cells of salivary glands and acinic cell carcinoma (AciCC), and background non-tumour acinar cells and plasma cells can serve as good internal positive controls.
Title: Mist1: a novel nuclear marker for acinic cell carcinoma of the salivary gland.
restoring the expression of MIST1 reverses the EMT and reduces the tumorigenicity of pancreatic cancer cells partly via the Snail/E-cadherin pathway
Title: Overexpression of MIST1 reverses the epithelial-mesenchymal transition and reduces the tumorigenicity of pancreatic cancer cells via the Snail/E-cadherin pathway.
Overexpression of MIST1-induced AMY1 expression while it had little effect on CK19 expression.
Title: MIST1, an Inductive Signal for Salivary Amylase in Mesenchymal Stem Cells.
noted a higher mean value of microvascular density in CK5/6 and Ep-CAM-immunopositive tumors, carcinomas with aberrant CK8/18 expression, and carcinomas with no or strong expression of MMP-2 in stromal fibroblast-like cells
Title: MIST1-a novel marker of plasmacytic differentiation.
Activation of protein kinase Cdelta leads to increased pancreatic acinar cell dedifferentiation in the absence of MIST1.
Title: Activation of protein kinase Cδ leads to increased pancreatic acinar cell dedifferentiation in the absence of MIST1.
Chief cells emerge from the Mist.
Title: The origin of pre-neoplastic metaplasia in the stomach: chief cells emerge from the Mist.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables E-box binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in Golgi organization	IEA Inferred from Electronic Annotation more info
involved_in axon development	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in cell-cell adhesion mediated by cadherin	IEA Inferred from Electronic Annotation more info
involved_in cell-cell junction organization	IEA Inferred from Electronic Annotation more info
involved_in cell-cell signaling	IEA Inferred from Electronic Annotation more info
involved_in cellular response to glucose starvation	ISS Inferred from Sequence or Structural Similarity more info
involved_in endoplasmic reticulum unfolded protein response	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in glucose homeostasis	IEA Inferred from Electronic Annotation more info
involved_in intracellular distribution of mitochondria	IEA Inferred from Electronic Annotation more info
involved_in localization of cell	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of myotube differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron fate commitment	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in sensory organ development	IBA Inferred from Biological aspect of Ancestor more info
involved_in type B pancreatic cell maturation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: class A basic helix-loop-helix protein 15

Names: 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

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.