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Sohlh1 Gene Detail
Summary
  • Symbol
    Sohlh1
  • Name
    spermatogenesis and oogenesis specific basic helix-loop-helix 1
  • Synonyms
    LOC227631, NOHLH
  • Feature Type
    protein coding gene
  • IDs
    MGI:2684956
    NCBI Gene: 227631
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:25733007-25737260 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 18.21 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    194 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2684956
 protein coding gene Chr2:25733007-25737347 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025473
 protein coding gene Chr2:23768301-23772554 (-)
A/J MGP_AJ_G0025450
 protein coding gene Chr2:22852617-22856870 (-)
AKR/J MGP_AKRJ_G0025420
 protein coding gene Chr2:23601644-23605897 (-)
BALB/cJ MGP_BALBcJ_G0025446
 protein coding gene Chr2:22960892-22965145 (-)
C3H/HeJ MGP_C3HHeJ_G0025207
 protein coding gene Chr2:23529548-23533801 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025890
 protein coding gene Chr2:24520279-24524532 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023301
 protein coding gene Chr2:21734253-21738631 (-)
CAST/EiJ MGP_CASTEiJ_G0024670
 protein coding gene Chr2:23420203-23424432 (-)
CBA/J MGP_CBAJ_G0025185
 protein coding gene Chr2:25361241-25365494 (-)
DBA/2J MGP_DBA2J_G0025318
 protein coding gene Chr2:22682661-22686914 (-)
FVB/NJ MGP_FVBNJ_G0025280
 protein coding gene Chr2:22419287-22423540 (-)
LP/J MGP_LPJ_G0025404
 protein coding gene Chr2:23706295-23710548 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025311
 protein coding gene Chr2:25534050-25538303 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025949
 protein coding gene Chr2:23560509-23564757 (-)
PWK/PhJ MGP_PWKPhJ_G0024418
 protein coding gene Chr2:22477273-22481521 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024218
 protein coding gene Chr2:23679554-23683766 (-)
WSB/EiJ MGP_WSBEiJ_G0024739
 protein coding gene Chr2:23626419-23630672 (-)



Homology
more
  • Human Ortholog
    SOHLH1, spermatogenesis and oogenesis specific basic helix-loop-helix 1
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SOHLH1, spermatogenesis and oogenesis specific basic helix-loop-helix 1
  • Synonyms
    bA100C15.3, bHLHe80, C9orf157, NOHLH, ODG5, SPATA27, SPGF32, TEB2
  • Links
    NCBI Gene ID: 402381
    neXtProt AC: NX_Q5JUK2
    UniProt: Q5JUK2

  • Chr Location
    9q34.3; chr9:135693407-135704498 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human SOHLH1 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 1 allele in 2 genetic backgrounds
    13 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.
Males homozygous for a null allele show decreased testis weight and male infertility due to defective spermatogonial differentiation into spermatocytes. Females are also infertile and show defective primordial-to-primary follicle transition and atrophic ovaries with rapid postnatal loss of oocytes.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    24
  • GO References
    7
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
less
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
    775
  • Tissues
    32
  • cDNA Data
    11
  • Literature Summary
    19
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000059625 Ensembl Gene Model | MGI Sequence Detail 4254 C57BL/6J ±  kb
    transcript ENSMUST00000076989 Ensembl | MGI Sequence Detail 1289 Not Applicable  
    polypeptide ENSMUSP00000076253 Ensembl | MGI Sequence Detail 357 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000015402 spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1
      (term hierarchy)
    • InterPro Domains
      IPR036638 Helix-loop-helix DNA-binding domain superfamily
      IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
      IPR039583 Transcription factor-like 5/SOLH1/2
    Molecular
    Reagents
    less
    • All nucleic 15
      cDNA 11
      Primer pair 4

      Microarray probesets 2
    References
    more
    • Summaries
      All 52
      Developmental Gene Expression 19
      Gene Ontology 7
      Phenotypes 13
    • Earliest
      J:92421 Rajkovic A, et al., NOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expression. Science. 2004 Aug 20;305(5687):1157-9
    • Latest
      J:344559 Hughes CHK, et al., Steroidogenic factor 1 (SF-1; Nr5a1) regulates the formation of the ovarian reserve. Proc Natl Acad Sci U S A. 2023 Aug 8;120(32):e2220849120
    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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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory