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Sall1 Gene Detail
Summary
  • Symbol
    Sall1
  • Name
    spalt like transcription factor 1
  • Synonyms
    Msal-3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1889585
    NCBI Gene: 58198
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:89753867-89770790 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 43.51 cM, cytoband D
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    273 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1889585
 protein coding gene Chr8:89753863-89770790 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033924
 protein coding gene Chr8:90148725-90165719 (-)
A/J MGP_AJ_G0033907
 protein coding gene Chr8:86605080-86622105 (-)
AKR/J MGP_AKRJ_G0033833
 protein coding gene Chr8:89131998-89148960 (-)
BALB/cJ MGP_BALBcJ_G0033900
 protein coding gene Chr8:86757600-86774584 (-)
C3H/HeJ MGP_C3HHeJ_G0033610
 protein coding gene Chr8:89752119-89769033 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034420
 protein coding gene Chr8:93539038-93562080 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031362
 protein coding gene Chr8:80561531-80578452 (-)
CAST/EiJ MGP_CASTEiJ_G0032941
 protein coding gene Chr8:89204166-89221448 (-)
CBA/J MGP_CBAJ_G0033586
 protein coding gene Chr8:96700897-96717870 (-)
DBA/2J MGP_DBA2J_G0033739
 protein coding gene Chr8:86183951-86200967 (-)
FVB/NJ MGP_FVBNJ_G0033686
 protein coding gene Chr8:85147447-85164996 (-)
LP/J MGP_LPJ_G0033831
 protein coding gene Chr8:90265043-90283238 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033729
 protein coding gene Chr8:99133660-99151964 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034439
 protein coding gene Chr8:89166492-89183951 (-)
PWK/PhJ MGP_PWKPhJ_G0032644
 protein coding gene Chr8:85467162-85485763 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032480
 protein coding gene Chr8:87972058-87991360 (-)
WSB/EiJ MGP_WSBEiJ_G0033052
 protein coding gene Chr8:89625178-89642768 (-)



Homology
more
  • Human Ortholog
    SALL1, spalt like transcription factor 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SALL1, spalt like transcription factor 1
  • Synonyms
    HEL-S-89, HSAL1, Sal-1, TBS, ZNF794
  • Links
    NCBI Gene ID: 6299
    neXtProt AC: NX_Q9NSC2
    UniProt: Q9NSC2

  • Chr Location
    16q12.1; chr16:51135982-51152334 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Sall1 mouse models; 3 with human SALL1 associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    45 phenotypes from 11 alleles in 10 genetic backgrounds
    19 phenotypes from multigenic genotypes
    95 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.
Homozygotes for a targeted null mutation exhibit kidney agenesis or dysgenesis and die perinatally. Homozygotes expressing only a truncated protein show renal agenesis, exencephaly, and limb defects; heterozygotes have hearing loss and cystic kidneys.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    76
  • GO References
    18
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
    1401
  • Tissues
    355
  • cDNA Data
    52
  • Literature Summary
    98
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 58198 NCBI Gene Model | MGI Sequence Detail 16924 C57BL/6J ±  kb
    transcript NM_001371070 RefSeq | MGI Sequence Detail 5543 C57BL/6  
    polypeptide Q9ER74 UniProt | EBI | MGI Sequence Detail 1322 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 68
      Genomic 3
      cDNA 54
      Primer pair 6
      Other 5

      Microarray probesets 4
    References
    more
    • Summaries
      All 195
      Developmental Gene Expression 98
      Diseases 2
      Gene Ontology 18
      Phenotypes 95
    • Earliest
      J:13049 Gruneberg H, Genetical studies on the skeleton of the mouse. XVIII. Three genes for syndactylism. J Genet. 1956;54(1):113-145
    • Latest
      J:352613 Haller M, et al., Streamlined identification of clinically and functionally relevant genetic regulators of lower-tract urogenital development. Proc Natl Acad Sci U S A. 2024 Feb 6;121(6):e2309466121
    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
    11/19/2024
    MGI 6.24     		The Jackson Laboratory