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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
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:172052292-172057573 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 79.54 cM
  • Mapping Data
    23 experiments
Strain
Comparison
more
  • SNPs within 2kb
    64 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98481
protein coding gene Chr1:172052292-172057596 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016775
protein coding gene Chr1:177899960-177905219 (-)
A/J MGP_AJ_G0016754
protein coding gene Chr1:170619425-170624705 (-)
AKR/J MGP_AKRJ_G0016720
protein coding gene Chr1:175773834-175779093 (-)
BALB/cJ MGP_BALBcJ_G0016715
protein coding gene Chr1:171166652-171172316 (-)
C3H/HeJ MGP_C3HHeJ_G0016539
protein coding gene Chr1:176351891-176357175 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017177
protein coding gene Chr1:183804166-183810821 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014883
protein coding gene Chr1:162323668-162329266 (-)
CAST/EiJ MGP_CASTEiJ_G0016119
protein coding gene Chr1:175703948-175709229 (-)
CBA/J MGP_CBAJ_G0016513
protein coding gene Chr1:190340638-190345896 (-)
DBA/2J MGP_DBA2J_G0016620
protein coding gene Chr1:169557265-169562885 (-)
FVB/NJ MGP_FVBNJ_G0016617
protein coding gene Chr1:167811412-167816795 (-)
LP/J MGP_LPJ_G0016691
protein coding gene Chr1:178984166-178989425 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016644
protein coding gene Chr1:197605708-197610989 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017213
protein coding gene Chr1:175640751-175647407 (-)
PWK/PhJ MGP_PWKPhJ_G0015905
protein coding gene Chr1:168928660-168934066 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015687
protein coding gene Chr1:174562144-174568631 (-)
WSB/EiJ MGP_WSBEiJ_G0016181
protein coding gene Chr1:175796104-175801361 (-)



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
    UniProt: Q02575

  • Chr Location
    1q23.2; chr1:160367071-160372848 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 4089
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: NHLH1
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 2 alleles in 2 genetic backgrounds
    11 phenotypes from multigenic genotypes
    11 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000051251 Ensembl Gene Model | MGI Sequence Detail 5282 C57BL/6J ±  kb
    transcript ENSMUST00000059794 Ensembl | MGI Sequence Detail 2464 Not Applicable  
    polypeptide ENSMUSP00000057489 Ensembl | MGI Sequence Detail 133 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000011200 helix-loop-helix protein 1
    • InterPro Domains
      IPR036638 Helix-loop-helix DNA-binding domain superfamily
      IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
      IPR040238 T-cell acute lymphocytic leukemia protein-like
    Molecular
    Reagents
    less
    • All nucleic 60
      Genomic 24
      cDNA 27
      Primer pair 7
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-12935, MGD-MRK-14709
    References
    more
    • Summaries
      All 86
      Developmental Gene Expression 43
      Gene Ontology 4
      Phenotypes 11
    • 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:270210 Loo L, et al., Single-cell transcriptomic analysis of mouse neocortical development. Nat Commun. 2019 Jan 11;10(1):134

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    last database update
    11/26/2019
    MGI 6.14
    The Jackson Laboratory