Contents

SALL1

Protein-coding gene in the species Homo sapiens

SALL1
Identifiers
Aliases	SALL1, HEL-S-89, HSAL1, Sal-1, TBS, ZNF794, spalt-like transcription factor 1, spalt like transcription factor 1
External IDs	OMIM: 602218; MGI: 1889585; HomoloGene: 2230; GeneCards: SALL1; OMA:SALL1 - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16q12.1 Start 51,135,982 bp[1] End 51,152,334 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 C3 Start 89,753,863 bp[2] End 89,770,790 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone inferior ganglion of vagus nerve renal medulla subthalamic nucleus superior vestibular nucleus ganglionic eminence internal globus pallidus stromal cell of endometrium right lobe of liver spinal cord Top expressed in pineal gland tail of embryo ventricular zone decidua Rostral migratory stream epiblast olfactory bulb primitive streak renal corpuscle gastrula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding sequence-specific DNA binding beta-catenin binding histone deacetylase activity DNA-binding transcription factor activity metal ion binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific protein binding nucleic acid binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component cytoplasm NuRD complex nucleoplasm heterochromatin chromocenter nucleus Biological process neurogenesis ureteric bud development pituitary gland development kidney epithelium development inductive cell-cell signaling regulation of transcription, DNA-templated olfactory bulb mitral cell layer development ventricular septum development olfactory bulb interneuron differentiation somatic stem cell population maintenance kidney development embryonic digit morphogenesis mesenchymal to epithelial transition involved in metanephros morphogenesis outer ear morphogenesis olfactory nerve development negative regulation of transcription by RNA polymerase II adrenal gland development ureteric bud invasion transcription, DNA-templated limb development positive regulation of Wnt signaling pathway positive regulation of transcription, DNA-templated heart development branching involved in ureteric bud morphogenesis negative regulation of transcription, DNA-templated gonad development embryonic digestive tract development positive regulation of transcription by RNA polymerase II histone deacetylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6299 58198 Ensembl ENSG00000103449 ENSMUSG00000031665 UniProt Q9NSC2 Q9ER74 Q6P5E3 RefSeq (mRNA) NM_001127892 NM_002968 NM_021390 NM_001371069 NM_001371070 RefSeq (protein) NP_001121364 NP_002959 NP_067365 NP_001357998 NP_001357999 Location (UCSC) Chr 16: 51.14 – 51.15 Mb Chr 8: 89.75 – 89.77 Mb PubMed search [3] [4]
Wikidata
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Sal-like 1 (Drosophila), also known as SALL1, is a protein which in humans is encoded by the SALL1 gene.^[5][6] As the full name suggests, it is one of the human versions of the spalt (sal) gene known in Drosophila.

Function[edit]

The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase (HDAC) complex.^[5]

Clinical significance[edit]

Defects in this gene are a cause of Townes–Brocks syndrome (TBS) as well as branchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene.^[5]

Interactions[edit]

SALL1 has been shown to interact with TERF1^[7] and UBE2I.^[8]

References[edit]

External links[edit]

• GeneReviews/NCBI/NIH/UW entry on Townes-Brocks Syndrome

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.