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

Gene ID: 168620, updated on 14-Nov-2024

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
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Genomic context

See BHLHA15 in Genome Data Viewer
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_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 478, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:97652101-97652600 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:97663350-97663858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:97663859-97664366 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:97677616-97678116 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:97678117-97678617 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:97761703-97762203 Neighboring gene lemur tyrosine kinase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26304 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97792559-97793068 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97793069-97793577 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97794853-97795370 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97795371-97795886 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:97822203-97822367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26305 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:97859339-97859992 Neighboring gene MPRA-validated peak6653 silencer Neighboring gene tectonin beta-propeller repeat containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97870078-97870980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97881191-97881934 Neighboring gene uncharacterized LOC124901706 Neighboring gene Sharpr-MPRA regulatory region 13100 Neighboring gene uncharacterized LOC124901705

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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, RNA polymerase II-specific 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 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

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.

mRNA and Protein(s)

  1. NM_177455.4NP_803238.1  class A basic helix-loop-helix protein 15

    See identical proteins and their annotated locations for NP_803238.1

    Status: VALIDATED

    Source sequence(s)
    AC091654
    Consensus CDS
    CCDS5655.1
    UniProtKB/Swiss-Prot
    A4D271, Q14DE4, Q7RTS1
    Related
    ENSP00000476312.1, ENST00000609256.2
    Conserved Domains (1) summary
    smart00353
    Location:81127
    HLH; helix loop helix domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    98211439..98215457
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    99441577..99445595
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)