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Sp1 Gene Detail
Summary
  • Symbol
    Sp1
  • Name
    trans-acting transcription factor 1
  • Synonyms
    1110003E12Rik, Sp1-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:98372
    NCBI Gene: 20683
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:102314751-102344839 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 15, 57.55 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    614 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98372
protein coding gene Chr15:102314578-102344839 (+)
129S1/SvImJ MGP_129S1SvImJ_G0022412
protein coding gene Chr15:104585064-104622678 (+)
A/J MGP_AJ_G0022374
protein coding gene Chr15:100466734-100498150 (+)
AKR/J MGP_AKRJ_G0022349
protein coding gene Chr15:103513614-103546706 (+)
BALB/cJ MGP_BALBcJ_G0022378
protein coding gene Chr15:100520304-100555440 (+)
C3H/HeJ MGP_C3HHeJ_G0022145
protein coding gene Chr15:103587220-103619280 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022827
protein coding gene Chr15:108467407-108506261 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020350
protein coding gene Chr15:96242610-96274357 (+)
CAST/EiJ MGP_CASTEiJ_G0021671
protein coding gene Chr15:104465596-104497285 (+)
CBA/J MGP_CBAJ_G0022114
protein coding gene Chr15:112285804-112318170 (+)
DBA/2J MGP_DBA2J_G0022245
protein coding gene Chr15:99754746-99785250 (+)
FVB/NJ MGP_FVBNJ_G0022221
protein coding gene Chr15:98816889-98846276 (+)
LP/J MGP_LPJ_G0022314
protein coding gene Chr15:104736983-104768868 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022243
protein coding gene Chr15:115841697-115876377 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022839
protein coding gene Chr15:103534866-103578674 (+)
PWK/PhJ MGP_PWKPhJ_G0021411
protein coding gene Chr15:99915142-99945011 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021243
protein coding gene Chr15:103387904-103422366 (+)
WSB/EiJ MGP_WSBEiJ_G0021721
protein coding gene Chr15:104170580-104207706 (+)



Homology
more
  • Human Ortholog
    SP1, Sp1 transcription factor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SP1, Sp1 transcription factor
  • Links
    NCBI Gene ID: 6667
    neXtProt AC: NX_P08047
    UniProt: P08047

  • Chr Location
    12q13.13; chr12:53380176-53416446 (+)  GRCh38

Human Diseases
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  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    6 phenotypes from 1 allele in 2 genetic backgrounds
    25 phenotypes from multigenic genotypes
    42 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 mice display reduced embryo size and die during organogenesis with a broad range of developmental defects. Heterozygous null mice are viable but slightly growth retarded, may lack one or both eyes, and show a decreased erythroid progenitor cell number in fetal liver cultures.
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 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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20683 NCBI Gene Model | MGI Sequence Detail 30089 C57BL/6J ±  kb
    transcript NM_013672 RefSeq | MGI Sequence Detail 7818 C57BL/6  
    polypeptide O89090 UniProt | EBI | MGI Sequence Detail 784 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 192
      Genomic 2
      cDNA 181
      Primer pair 8
      Other 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-14512, MGI:1915735, MGI:2146073, MGI:3034478
    References
    more
    • Summaries
      All 231
      Developmental Gene Expression 39
      Diseases 1
      Gene Ontology 39
      Phenotypes 42
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:350494 Perrin S, et al., MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by NF1 loss in Schwann cells and skeletal stem/progenitor cells. Sci Transl Med. 2024 Jun 26;16(753):eadj1597

    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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    last database update
    11/12/2024
    MGI 6.24
    The Jackson Laboratory