Entity Details

Primary name SALL1
Entity type gene
Source Source Link

Details

PrimaryID6299
RefseqGeneNG_007990
SymbolSALL1
Namespalt like transcription factor 1
Chromosome16
Location16q12.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-05-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsSALL1_HUMAN

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000792 heterochromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific
GO:0001657 ureteric bud development
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001822 kidney development
GO:0003281 ventricular septum development
GO:0003337 mesenchymal to epithelial transition involved in metanephros morphogenesis
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007507 heart development
GO:0008013 beta-catenin binding
GO:0008406 gonad development
GO:0010369 chromocenter
GO:0021553 olfactory nerve development
GO:0021889 olfactory bulb interneuron differentiation
GO:0021983 pituitary gland development
GO:0030177 positive regulation of Wnt signaling pathway
GO:0030325 adrenal gland development
GO:0031129 inductive cell-cell signaling
GO:0035019 somatic stem cell population maintenance
GO:0042733 embryonic digit morphogenesis
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046872 metal ion binding
GO:0048566 embryonic digestive tract development
GO:0060173 limb development
GO:0061034 olfactory bulb mitral cell layer development
GO:0072073 kidney epithelium development
GO:0072092 ureteric bud invasion

Diseases

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Disease IDSourceNameDescription
107480 OMIMTownes-Brocks syndrome 1 (TBS1)A form of Townes-Brocks syndrome, a rare autosomal dominant disease characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease. The disease is caused by variants affecting the gene represented in this entry. Some individuals with SALL1 mutations manifest a phenotype overlapping with TBS1 and bronchio-oto-renal syndrome. Clinical features include dysplastic ears, hypoplastic kidneys with impaired renal function, gastroesophageal reflux, hypermetropia, hypospadias, and mild developmental delay. Affected individuals lack the characteristic anal or hand malformations of TBS1.