SALL1 Gene - Spalt Like Transcription Factor 1
SALL1 in Townes-Brocks Syndrome and Renal Development
Gene Information Card
| Symbol | SALL1 |
|---|---|
| Full Name | Spalt Like Transcription Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q12.1 |
| NCBI Gene ID | 6299 ncbi.nlm.nih.gov/gene/6299 |
| Ensembl ID | ENSG00000103495 |
| UniProt ID | Q9NSC2 |
| OMIM ID | 602218 |
| HGNC ID | 10524 |
| Aliases | HSAL1, Sal-1, TBS, ZNF794 |
Description
SALL1 encodes a zinc finger transcription factor that is essential for embryonic development, particularly of the kidney, limbs, and anus. It acts as a transcriptional repressor and is involved in the regulation of cell proliferation and differentiation. Mutations in SALL1 cause Townes-Brocks syndrome, a rare genetic disorder characterized by anal, renal, limb, and ear anomalies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Townes-Brocks syndrome | Loss-of-function mutations in SALL1 disrupt normal development of kidney, limbs, and anus, leading to the characteristic features of TBS. | OMIM #107480; ClinVar |
| Renal hypodysplasia | SALL1 mutations impair renal progenitor cell maintenance and differentiation, resulting in kidney malformations. | NCBI Gene; PubMed: 10615120 |
| Anal stenosis | SALL1 deficiency disrupts hindgut development, causing anal atresia or stenosis. | OMIM #107480 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Testis | 8.2 | Low |
| Brain | 6.1 | Low |
| Lung | 4.8 | Low |
| Liver | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Embryonic kidney cell line |
| HepG2 | 3.2 | Hepatocellular carcinoma |
| K562 | 1.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.826C>T (p.Arg276*) | Nonsense | <0.01% | Premature stop codon; loss of function |
| c.1112G>A (p.Arg371Gln) | Missense | <0.01% | Altered DNA binding; dominant negative |
| c.1903C>T (p.Arg635Trp) | Missense | <0.01% | Impaired transcriptional repression |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported for SALL1.
Dominant Negative (DN)
Missense mutations in the zinc finger domains that interfere with wild-type SALL1 function.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • zinc ion binding |
| • regulation of transcription by RNA polymerase II | • embryonic organ morphogenesis |
| • kidney development | • negative regulation of cell population proliferation |
Pathways
• Developmental Biology (Reactome: R-HSA-1266738)
• Transcriptional regulation by RUNX1 (Reactome: R-HSA-8878171)
Protein Summary
SALL1 is a 1,322-amino acid protein containing multiple C2H2-type zinc finger domains. It localizes to the nucleus and functions as a transcriptional repressor. The protein is critical for the development of the kidney, anus, and limbs, and its dysregulation leads to Townes-Brocks syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SALL1 Knockout HEK293 Cell Line | EDJ-KQ5710 | Human | 6299 | Details Get a Quote |
| SALL1 Knockout HeLa Cell Line | EDJ-KQ54390 | Human | 6299 | Details Get a Quote |
| SALL1 Knockout A-549 Cell Line | EDJ-KQ62882 | Human | 6299 | Details Get a Quote |
| SALL1 Knockout HCT 116 Cell Line | EDJ-KQ71349 | Human | 6299 | Details Get a Quote |
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