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Sall1 Gene Detail
Summary
  • Symbol
    Sall1
  • Name
    sal-like 1 (Drosophila)
  • Synonyms
    Msal-3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1889585
    NCBI Gene: 58198
  • Gene Overview
    MyGene.info: SALL1
Location & Maps
more
  • Sequence Map
    Chr8:89027235-89044162 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      16928 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 43.51 cM, cytoband D
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    SALL1, spalt like transcription factor 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SALL1, spalt like transcription factor 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HEL-S-89, HSAL1, Sal-1, TBS, ZNF794
  • Links
    NCBI Gene ID: 6299
    neXtProt AC: NX_Q9NSC2

  • Chr Location
    16q12.1; chr16:51135975-51152316 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 2230
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: SALL1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Sall1 mouse models; 1 with human SALL1 associations

Human Disease Mouse Models
       Townes-Brocks Syndrome; TBS   OMIM: 107480 View 3 models
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
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  • Phenotype Summary
    43 phenotypes from 11 alleles in 10 genetic backgrounds
    19 phenotypes from multigenic genotypes
    56 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.
  • All Mutations and Alleles
    44
  • Gene trapped
    28
  • Radiation induced
    1
  • Targeted
    14
  • Transgenic
    1
  • Genomic Mutations
    1 involving Sall1
  • Incidental Mutations
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
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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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000061533 VEGA Gene Model | MGI Sequence Detail 16928 C57BL/6J ±  kb
transcript OTTMUST00000150109 VEGA | MGI Sequence Detail 5265 Not Applicable  
polypeptide OTTMUSP00000077821 VEGA | MGI Sequence Detail 1323 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    142 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 61
    Genomic 3
    cDNA 51
    Primer pair 3
    Other 4

    Microarray probesets 4
References
more
  • Summaries
    All 99
    Developmental Gene Expression 60
    Diseases 2
    Gene Ontology 18
    Phenotypes 56
  • Earliest
    J:64306 Buck A, et al., Molecular cloning, chromosomal localization, and expression of the murine SALL1 ortholog Sall1. Cytogenet Cell Genet. 2000;89(3-4):150-3
  • Latest
    J:235958 Rousso DL, et al., Two Pairs of ON and OFF Retinal Ganglion Cells Are Defined by Intersectional Patterns of Transcription Factor Expression. Cell Rep. 2016 May 31;15(9):1930-44

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory