Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Sall1. (This text reflects annotations as of Thursday, July 24, 2014.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Sall1
  • participates in the following biological processes:
    • negative regulation of transcription from RNA polymerase II promoter ^{[6, 8]}
    • negative regulation of transcription, DNA-templated ^[8]
    • positive regulation of transcription from RNA polymerase II promoter ^[14]
    • transcription from RNA polymerase II promoter ^[4]
  • performs the following molecular functions:
    • chromatin binding ^[14]
    • DNA binding ^[5]
    • enhancer sequence-specific DNA binding ^[4]
    • RNA polymerase II transcription coactivator activity ^[4]
  • is located in the following cellular components:
    • heterochromatin ^[15]
    • nucleus ^{[2, 10, 13]}
    • NuRD complex ^{[6, 8]}
• The gene product of Sall1 has been shown to bind to the gene products of Hdac1, Hdac2, Mta1, Mta2, Rbbp7. ^[6] Researchers have inferred, based on physical interactions, that the gene product of Sall1
  • performs the following molecular functions:
    • RNA polymerase II transcription factor binding ^[4]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Sall1
  • participates in the following biological processes:
    • branching involved in ureteric bud morphogenesis ^[12]
    • embryonic digit morphogenesis ^[7]
    • inductive cell-cell signaling ^[10]
    • kidney epithelium development ^[9]
    • mesenchymal to epithelial transition involved in metanephros morphogenesis ^[10]
    • negative regulation of ectoderm development ^[4]
    • negative regulation of mesoderm development ^[4]
    • negative regulation of transcription from RNA polymerase II promoter ^[7]
    • negative regulation of transcription, DNA-templated ^[7]
    • olfactory bulb development ^[3]
    • olfactory bulb interneuron differentiation ^[3]
    • olfactory nerve development ^[3]
    • positive regulation of neuron differentiation ^[3]
    • positive regulation of transcription from RNA polymerase II promoter ^[14]
    • regulation of neural precursor cell proliferation ^[3]
    • ureteric bud development ^[10]
    • ureteric bud invasion ^{[9, 10]}
    • ventricular septum development ^[7]
  • performs the following molecular functions:
    • histone deacetylase activity ^[8]
• Researchers have inferred, based on genetic interactions, that the gene product of Sall1
  • participates in the following biological processes:
    • forelimb morphogenesis based on interactions with Sall3 ^[5]
    • hindlimb morphogenesis based on interactions with Sall3 ^[5]
    • negative regulation of smoothened signaling pathway based on interactions with Sall3 ^[5]
    • negative regulation of transcription from RNA polymerase II promoter based on interactions with Hoxd13 ^[5]
    • neural tube closure based on interactions with Sall4 ^[11]
    • neural tube development based on interactions with Sall4 ^[1]
    • ventricular septum development based on interactions with Sall4 ^[11]
• Based on the experimental annotations above, MGI curators have inferred, that the gene product of Sall1
  • is located in the following cellular components:
    • nucleus ^[4]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Sall1:
  • participates in the following biological processes:
    • embryonic digestive tract development
    • embryonic digit morphogenesis
    • heart development
    • kidney development
    • limb development
    • negative regulation of transcription from RNA polymerase II promoter
    • negative regulation of transcription, DNA-templated
    • olfactory bulb mitral cell layer development
    • outer ear morphogenesis
    • positive regulation of transcription from RNA polymerase II promoter
    • positive regulation of transcription, DNA-templated
    • positive regulation of Wnt signaling pathway
  • performs the following molecular functions:
    • beta-catenin binding
  • is located in the following cellular components:
    • chromocenter
    • cytoplasm
    • heterochromatin
    • nucleus

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Summary text based on GO annotations supported by structural data

• Sall1 encodes a protein or proteins that contain the following InterPro domains: Zinc finger C2H2-type/integrase DNA-binding domain, Zinc finger, C2H2, Zinc finger, C2H2-like, indicating that the gene product:
  • performs the following molecular functions:
    • metal ion binding
    • nucleic acid binding

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Sall1 indicates that it:
  • participates in the following biological processes:
    • regulation of transcription, DNA-templated
    • transcription, DNA-templated
  • performs the following molecular functions:
    • metal ion binding

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References

1. Bohm J et al. (2008) Sall1, sall2, and sall4 are required for neural tube closure in mice. Am J Pathol, 173:1455-63. (PubMed:18818376)
2. Harrison SJ et al. (2008) Sall3 is required for the terminal maturation of olfactory glomerular interneurons. J Comp Neurol, 507:1780-94. (PubMed:18260139)
3. Harrison SJ et al. (2008) Sall1 regulates mitral cell development and olfactory nerve extension in the developing olfactory bulb. Cereb Cortex, 18:1604-17. (PubMed:18024993)
4. Karantzali E et al. (2011) Sall1 regulates embryonic stem cell differentiation in association with nanog. J Biol Chem, 286:1037-45. (PubMed:21062744)
5. Kawakami Y et al. (2009) Sall genes regulate region-specific morphogenesis in the mouse limb by modulating Hox activities. Development, 136:585-94. (PubMed:19168674)
6. Kiefer SM et al. (2002) Murine sall1 represses transcription by recruiting a histone deacetylase complex. J Biol Chem, 277:14869-76. (PubMed:11836251)
7. Kiefer SM et al. (2008) SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes. Hum Mutat, 29:1133-40. (PubMed:18470945)
8. Lauberth SM et al. (2006) A conserved 12-amino acid motif in Sall1 recruits the nucleosome remodeling and deacetylase corepressor complex. J Biol Chem, 281:23922-31. (PubMed:16707490)
9. Nishinakamura R et al. (2006) Essential roles of Sall family genes in kidney development. J Physiol Sci, 56:131-6. (PubMed:16839447)
10. Nishinakamura R et al. (2001) Murine homolog of SALL1 is essential for ureteric bud invasion in kidney development. Development, 128:3105-15. (PubMed:11688560)
11. Sakaki-Yumoto M et al. (2006) The murine homolog of SALL4, a causative gene in Okihiro syndrome, is essential for embryonic stem cell proliferation, and cooperates with Sall1 in anorectal, heart, brain and kidney development. Development, 133:3005-13. (PubMed:16790473)
12. Sato A et al. (2003) Zinc finger protein sall2 is not essential for embryonic and kidney development. Mol Cell Biol, 23:62-9. (PubMed:12482961)
13. Strausberg R. (2002) Mus musculus, NOGO-interacting mitochondrial protein, clone MGC: 36577 IMAGE: 5100503, mRNA, complete cds GenBank Submission, null:BC024116.
14. Uchiyama Y et al. (2010) Kif26b, a kinesin family gene, regulates adhesion of the embryonic kidney mesenchyme. Proc Natl Acad Sci U S A, 107:9240-5. (PubMed:20439720)
15. Yamashita K et al. (2007) Mouse homolog of SALL1, a causative gene for Townes-Brocks syndrome, binds to A/T-rich sequences in pericentric heterochromatin via its C-terminal zinc finger domains. Genes Cells, 12:171-82. (PubMed:17295837)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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