SALL1

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.

Full Name

Spalt Like Transcription Factor 1

Function

Transcriptional repressor involved in organogenesis. Plays an essential role in ureteric bud invasion during kidney development.

Biological Process

Biological Process adrenal gland developmentManual Assertion Based On ExperimentIEP:UniProtKB
Biological Process branching involved in ureteric bud morphogenesisISS:UniProtKB
Biological Process embryonic digestive tract developmentManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process embryonic digit morphogenesisManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process gonad developmentManual Assertion Based On ExperimentIEP:UniProtKB
Biological Process heart developmentManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process inductive cell-cell signalingISS:UniProtKB
Biological Process kidney developmentManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process kidney epithelium developmentISS:UniProtKB
Biological Process limb developmentManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process mesenchymal to epithelial transition involved in metanephros morphogenesisManual Assertion Based On ExperimentIEP:UniProtKB
Biological Process negative regulation of DNA-templated transcriptionManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process negative regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process olfactory bulb interneuron differentiationISS:UniProtKB
Biological Process olfactory bulb mitral cell layer developmentManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process olfactory nerve developmentISS:UniProtKB
Biological Process pituitary gland developmentManual Assertion Based On ExperimentIEP:UniProtKB
Biological Process positive regulation of DNA-templated transcriptionManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of Wnt signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Biological Process ureteric bud developmentISS:UniProtKB
Biological Process ureteric bud invasionISS:UniProtKB
Biological Process ventricular septum developmentISS:UniProtKB

Cellular Location

Nucleus

Involvement in disease

Townes-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.