InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SALL1

Summary

InnateDB Protein

IDBP-376888.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SALL1

Protein Name

sal-like 1 (Drosophila)

Synonyms

HEL-S-89; HSAL1; Sal-1; TBS; ZNF794;

Species

Homo sapiens

Ensembl Protein

ENSP00000407914

InnateDB Gene

IDBG-30748 (SALL1)

Protein Structure

UniProt Annotation

Function

Transcriptional repressor involved in organogenesis. {ECO:0000250}.

Subcellular Localization

Nucleus {ECO:0000250}.

Disease Associations

Townes-Brocks syndrome (TBS) [MIM:107480]: Rare, autosomal dominant malformation syndrome with a combination of imperforate anus, triphalangeal and supernumerary thumbs, malformed ears and sensorineural hearing loss. Note=The disease is caused by mutations affecting the gene represented in this entry. 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.

Tissue Specificity

Highest levels in kidney. Lower levels in adult brain (enriched in corpus callosum, lower expression in substantia nigra) and liver.

Comments

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: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: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: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: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