Description: Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 1, mRNA. RefSeq Summary (NM_002968): 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]. Transcript (Including UTRs) Position: hg19 chr16:51,169,886-51,185,183 Size: 15,298 Total Exon Count: 3 Strand: - Coding Region Position: hg19 chr16:51,171,388-51,185,152 Size: 13,765 Coding Exon Count: 3
ID:SALL1_HUMAN DESCRIPTION: RecName: Full=Sal-like protein 1; AltName: Full=Spalt-like transcription factor 1; AltName: Full=Zinc finger protein 794; AltName: Full=Zinc finger protein SALL1; AltName: Full=Zinc finger protein Spalt-1; Short=HSal1; Short=Sal-1; FUNCTION: Transcriptional repressor involved in organogenesis (By similarity). SUBUNIT: Interacts with HDAC1, HDAC2, RBBP4, RBPP7, MTA1 and MTA2 (By similarity). Interacts with FAM58A. Probably associates with NuRD histone deacetylase complex (HDAC). SUBCELLULAR LOCATION: Nucleus (By similarity). TISSUE SPECIFICITY: Highest levels in kidney. Lower levels in adult brain (enriched in corpus callosum, lower expression in substantia nigra) and liver. DEVELOPMENTAL STAGE: In fetal brain exclusively in neurons of the subependymal region of hypothalamus lateral to the third ventricle. DISEASE: Defects in SALL1 are the cause of Townes-Brocks syndrome (TBS) [MIM:107480]. TBS is a rare, autosomal dominant malformation syndrome with a combination of imperforate anus, triphalangeal and supernumerary thumbs, malformed ears and sensorineural hearing loss. Note=Some individuals with SALL1 mutations manifest a phenotype overlapping with TBS 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 TBS. SIMILARITY: Belongs to the sal C2H2-type zinc-finger protein family. SIMILARITY: Contains 9 C2H2-type zinc fingers. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SALL1";
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): SALL1 CDC HuGE Published Literature: SALL1 Positive Disease Associations: Luteinizing Hormone Related Studies:
Luteinizing Hormone Shih-Jen Hwang et al. BMC medical genetics 2007, A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study., BMC medical genetics.
[PubMed 17903292]
Kidney function traits and TSH are associated with SNPs on the Affymetrix GeneChip Human Mapping 100K SNP set. These data will serve as a valuable resource for replication as more SNPs associated with kidney function and endocrine traits are identified.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NSC2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0003676 nucleic acid binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0005515 protein binding GO:0008013 beta-catenin binding GO:0043565 sequence-specific DNA binding GO:0044212 transcription regulatory region DNA binding GO:0046872 metal ion binding GO:0004407 histone deacetylase activity
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:0003281 ventricular septum development GO:0003337 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0007507 heart development GO:0008406 gonad development GO:0016575 histone deacetylation GO:0021553 olfactory nerve development GO:0021889 olfactory bulb interneuron differentiation GO:0021983 pituitary gland development GO:0022008 neurogenesis 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:0042473 outer ear morphogenesis 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 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
US Server
