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FLASH GENE
Symbol NHLH1 contributors: mct - updated : 06-11-2010
HGNC name nescient helix loop helix 1
HGNC id 7817
Location 1q23.2      Physical location : 160.336.860 - 160.342.638
Synonym name class A basic helix-loop-helix protein 35
Synonym symbol(s) HEN1, NSA, NSCL1, NSCL, bHLHa35
DNA
TYPE functioning gene
STRUCTURE 5.78 kb     2 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site   transcription factor
text structure
  • promoter was found to be bound and activated by GLI1 transcription factor
  • MAPPING cloned Y linked N status provisional
    Physical map
    LOC171422 1q23.1 C-reactive protein pseudogene CRP 1q23.2 C-reactive protein, pentraxin-related FLJ20442 1q23.1 hypothetical protein FLJ20442 LOC343413 1q23.1 similar to Fc receptor homolog expressed in B cells; Fc receptor related protein X SLAMF8 1q23.1 SLAM family member 8 LOC391123 1 similar to hypothetical protein A030011M19 NESG1 1q22 similar to hypothetical protein A030011M19 TAGLN2 1q22 transgelin 2 IGSF9 1q22-q23 immunoglobulin superfamily, member 9 SLAMF9 1q23.1 SLAM family member 9 LOC391124 1 similar to ribosomal protein L27a; ribosomal protein L29 homolog (yeast) PIGM 1q22 phosphatidylinositol glycan, class M KCNJ10 1q22 potassium inwardly-rectifying channel, subfamily J, member 10 KCNJ9 1q22 potassium inwardly-rectifying channel, subfamily J, member 9 IGSF8 1q23.1 immunoglobulin superfamily, member 8 ATP1A2 1q22 ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide ATP1A4 1q22 ATPase, Na+/K+ transporting, alpha 4 polypeptide CASQ1 1q22 calsequestrin 1 (fast-twitch, skeletal muscle) PEA15 1q22 phosphoprotein enriched in astrocytes 15 H326 1q22-q23 H326 LOC388707 1 hypothetical gene supported by BC005391; NM_002295 COPA 1q22 coatomer protein complex, subunit alpha PXF 1q22 peroxisomal farnesylated protein NCSTN 1q22 peroxisomal farnesylated protein NHLH1 1q22 nescient helix loop helix 1 VANGL2 1q22 vang-like 2 (van gogh, Drosophila) SLAMF6 1q23.1 SLAM family member 6 CD84 1q22-q23 CD84 antigen (leukocyte antigen) SLAMF1 1q21.3-1q23.2 signaling lymphocytic activation molecule family member 1 CD48 1q23 CD48 antigen (B-cell membrane protein) SLAMF7 1q23.1-q24.1 SLAM family member 7 LY9 1q21.3-q22 lymphocyte antigen 9 CD244 1q23.1 CD244 natural killer cell receptor 2B4 ITLN1 1q21.3 intelectin 1 (galactofuranose binding) LOC284679 1q23.1 similar to spermine synthase; spermidine aminopropyltransferase ITLN2 1q22-q23.5 intelectin 2 F11R 1q21.2-q21.3 F11 receptor
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 2594 - 133 - 2003 12878195
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines neuroblastoma cell line
    fluid/secretion
    at STAGE
    physiological period embryo
    Text
  • transiently, during neuro-genesis
  • expressionin all developing cranial ganglia including the petrosal and vestibulocochlear ganglion, in inner and outer hair cells of the organ of Corti and in hair cells of the vestibular system. Expression domains in other sensory structures include the retina, Merkel cells of the developing skin and sensory cells of the tongue
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • basic helix-loop-helix (HLH) protein
  • HOMOLOGY
    intraspecies homolog to TAL1
    Homologene
    FAMILY
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in retinal development
  • with NHLH2, maintain migration and survival of cells in the anterior extramural migration stream (aes)
  • may act at the terminal stages of mammalian neurogenesis and not at the early, fate determination stages
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with LMO2 and LMO4 (modulating its transcriptional activity)
  • modulated by the transcriptional activity of LMO
  • NEUROD1 was essential for NHLH1 induction
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in medulloblastoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS