Homo sapiens Gene: SALL1
Summary
InnateDB Gene IDBG-30748.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SALL1
Gene Name sal-like 1 (Drosophila)
Synonyms HEL-S-89; HSAL1; Sal-1; TBS; ZNF794
Species Homo sapiens
Ensembl Gene ENSG00000103449
Encoded Proteins
sal-like 1 (Drosophila)
sal-like 1 (Drosophila)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:51135975-51151367
Strand Reverse strand
Band q12.1
Transcripts
ENST00000251020 ENSP00000251020
ENST00000440970 ENSP00000407914
ENST00000562674
ENST00000570206 ENSP00000456777
ENST00000566102 ENSP00000455582
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 9 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0004407 histone deacetylase activity
GO:0005515 protein binding
GO:0008013 beta-catenin binding
GO:0046872 metal ion binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001657 ureteric bud development
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001822 kidney development
GO:0001843 neural tube closure
GO:0003281 ventricular septum development
GO:0003337 mesenchymal to epithelial transition involved in metanephros morphogenesis
GO:0006351 transcription, DNA-templated
GO:0007507 heart development
GO:0008406 gonad development
GO:0016575 histone deacetylation
GO:0021553 olfactory nerve development
GO:0021772 olfactory bulb development
GO:0021889 olfactory bulb interneuron differentiation
GO:0021915 neural tube development
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:0035136 forelimb morphogenesis
GO:0035137 hindlimb morphogenesis
GO:0042473 outer ear morphogenesis
GO:0042733 embryonic digit morphogenesis
GO:0045666 positive regulation of neuron differentiation
GO:0045879 negative regulation of smoothened signaling pathway
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
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
GO:2000177 regulation of neural precursor cell proliferation
Cellular Component
GO:0000792 heterochromatin
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0010369 chromocenter
GO:0016581 NuRD complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL H3BQ32
UniProt Splice Variant
Entrez Gene 6299
UniGene Hs.135787
RefSeq NM_001127892 NM_002968 XM_006721241
HUGO HGNC:10524
OMIM 602218
CCDS CCDS10747 CCDS45483
HPRD 03742
IMGT
EMBL AC009166
GenPept
RNA Seq Atlas 6299