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Nhlh1 Gene Detail
Summary
  • Symbol
    Nhlh1
  • Name
    nescient helix loop helix 1
  • Synonyms
    bHLHa35, Hen1, Nscl, Nscl, Tal2
  • Feature Type
    protein coding gene
  • IDs
    MGI:98481
    NCBI Gene: 18071
  • Gene Overview
    MyGene.info: NHLH1
Location & Maps
more
  • Sequence Map
    Chr1:172052292-172057573 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      5282 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 79.54 cM
  • Mapping Data
    23 experiments
Homology
more
  • Human Ortholog
    NHLH1, nescient helix-loop-helix 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    NHLH1, nescient helix-loop-helix 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    bHLHa35, HEN1, NSCL, NSCL1
  • Links
    NCBI Gene ID: 4807
    neXtProt AC: NX_Q02575

  • Chr Location
    1q22; chr1:160286369-160372848 (+)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    6 phenotypes from 1 allele in 1 genetic background
    11 phenotypes from multigenic genotypes
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    7
  • Chemically induced (other)
    2
  • Targeted
    5
  • Genomic Mutations
    2 involving Nhlh1
Homozygous targeted null mutants show cardiac arrhythmia and lack a heart rate response to water immersion. Adults are subject to sudden death, probably due to poor parasympathetic tone. Homozygotes for another targeted mutation had no abnormalities.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000033453 VEGA Gene Model | MGI Sequence Detail 5282 C57BL/6J ±  kb
transcript OTTMUST00000084043 VEGA | MGI Sequence Detail 2464 Not Applicable  
polypeptide OTTMUSP00000045229 VEGA | MGI Sequence Detail 133 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    64 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000011200 helix-loop-helix protein 1
  • InterPro Domains
    IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
Molecular
Reagents
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  • All nucleic 55
    Genomic 24
    cDNA 24
    Primer pair 5
    Other 2

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-12935, MGD-MRK-14709
References
more
  • Summaries
    All 73
    Developmental Gene Expression 36
    Gene Ontology 4
    Phenotypes 10
  • Earliest
    J:904 Gough NM, et al., Localization of murine HLH gene NSCL to chromosome 1 by use of recombinant inbred strains. Mamm Genome. 1992;3(3):182-3
  • Latest
    J:227851 Pataskar A, et al., NeuroD1 reprograms chromatin and transcription factor landscapes to induce the neuronal program. EMBO J. 2016 Jan 4;35(1):24-45

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory