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Sox1 Gene Detail
Summary
  • Symbol
    Sox1
  • Name
    SRY (sex determining region Y)-box 1
  • Synonyms
    Sox-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:98357
    NCBI Gene: 20664
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:12445519-12449555 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 5.73 cM, cytoband A1-A2
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    24 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98357
 protein coding gene Chr8:12445295-12450126 (+)
129S1/SvImJ MGP_129S1SvImJ_G0033362
 protein coding gene Chr8:9685587-9690430 (+)
A/J MGP_AJ_G0033342
 protein coding gene Chr8:9335720-9340550 (+)
AKR/J MGP_AKRJ_G0033273
 protein coding gene Chr8:9592213-9597044 (+)
BALB/cJ MGP_BALBcJ_G0033343
 protein coding gene Chr8:9474585-9479243 (+)
C3H/HeJ MGP_C3HHeJ_G0033056
 protein coding gene Chr8:9783497-9788276 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033855
 protein coding gene Chr8:10039028-10043859 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030824
 protein coding gene Chr8:8836892-8841728 (+)
CAST/EiJ MGP_CASTEiJ_G0032378
 protein coding gene Chr8:9537773-9542620 (+)
CBA/J MGP_CBAJ_G0033029
 protein coding gene Chr8:10467723-10472558 (+)
DBA/2J MGP_DBA2J_G0033182
 protein coding gene Chr8:9298248-9302883 (+)
FVB/NJ MGP_FVBNJ_G0033131
 protein coding gene Chr8:9281932-9286539 (+)
LP/J MGP_LPJ_G0033276
 protein coding gene Chr8:9600135-9607202 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033165
 protein coding gene Chr8:10739968-10745819 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033872
 protein coding gene Chr8:9635355-9640032 (+)
PWK/PhJ MGP_PWKPhJ_G0032091
 protein coding gene Chr8:9312283-9317245 (+)
SPRET/EiJ MGP_SPRETEiJ_G0031933
 protein coding gene Chr8:9505209-9511616 (+)
WSB/EiJ MGP_WSBEiJ_G0032494
 protein coding gene Chr8:9670621-9676313 (+)



Homology
more
  • Human Ortholog
    SOX1, SRY-box transcription factor 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SOX1, SRY-box transcription factor 1
  • Links
    NCBI Gene ID: 6656
    neXtProt AC: NX_O00570
    UniProt: O00570

  • Chr Location
    13q34; chr13:112067149-112071706 (+)  GRCh38
Human Diseases
less
  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 2 alleles in 3 genetic backgrounds
    39 phenotypes from multigenic genotypes
    60 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 null mutants exhibit lens opacity associated with a lack of gamma crystallin expression, microphthalmia, episodic seizures, sexual dysfunction, impaired maternal nurturing, and reduced lifespan.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    26
  • GO References
    9
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
non-membrane-bounded 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
    1169
  • Tissues
    250
  • cDNA Data
    19
  • Literature Summary
    139
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20664 NCBI Gene Model | MGI Sequence Detail 4037 C57BL/6J ±  kb
    transcript NM_009233 RefSeq | MGI Sequence Detail 4037 ZRU/MplStud  
    polypeptide P53783 UniProt | EBI | MGI Sequence Detail 391 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 43
      Genomic 1
      cDNA 21
      Primer pair 12
      Other 9

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-14492, MGD-MRK-14496, MGI:2142834
    References
    more
    • Summaries
      All 220
      Developmental Gene Expression 139
      Diseases 1
      Gene Ontology 9
      Phenotypes 60
    • Earliest
      J:10645 Gubbay J, et al., A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes [see comments]. Nature. 1990 Jul 19;346(6281):245-50
    • Latest
      J:345604 Werren EA, et al., TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome. Nat Commun. 2024 Feb 22;15(1):1640
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory