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

    Gene ID: 168620, updated on 17-Jun-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; endoplasmic reticulum unfolded protein response; and negative regulation of myotube differentiation. Predicted to act upstream of or within several processes, including glucose homeostasis; intracellular distribution of mitochondria; and mitochondrial calcium ion transmembrane transport. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    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_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (98211439..98215457)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (99441577..99445595)
    105.20220307 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 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
    part_of 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_2023_10

    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)