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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
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:171879859-171885140 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 79.54 cM
  • Mapping Data
    23 experiments
Strain
Comparison
more
  • SNPs within 2kb
    233 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    4
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98481
 protein coding gene Chr1:171879859-171885163 (-)
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
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NHLH1, nescient helix-loop-helix 1
  • Synonyms
    bHLHa35, HEN1, NSCL, NSCL1
  • Links
    NCBI Gene ID: 4807
    neXtProt AC: NX_Q02575
    UniProt: Q02575

  • Chr Location
    1q23.2; chr1:160367071-160372846 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    9 phenotypes from 2 alleles in 2 genetic backgrounds
    11 phenotypes from multigenic genotypes
    15 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.
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
less
  • All GO Annotations
    13
  • GO References
    6
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    1236
  • Tissues
    228
  • cDNA Data
    23
  • Literature Summary
    52
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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
    Molecular
    Reagents
    less
    • All nucleic 64
      Genomic 24
      cDNA 29
      Primer pair 8
      Other 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-12935, MGD-MRK-14709
    References
    more
    • Summaries
      All 101
      Developmental Gene Expression 52
      Gene Ontology 6
      Phenotypes 15
    • 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:353339 Butts JC, et al., A single-cell transcriptomic map of the developing Atoh1 lineage identifies neural fate decisions and neuronal diversity in the hindbrain. Dev Cell. 2024 Aug 19;59(16):2171-2188.e7
    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)
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    Funding Information
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    12/10/2024
    MGI 6.24     		The Jackson Laboratory