SALL1
Sal-like 1 (Drosophila) | |||||||||||
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Identifiers | |||||||||||
Symbols | SALL1 ; HSAL1; TBS; ZNF794 | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 2230 | ||||||||||
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RNA expression pattern | |||||||||||
File:PBB GE SALL1 206893 at tn.png | |||||||||||
More reference expression data | |||||||||||
Orthologs | |||||||||||
Template:GNF Ortholog box | |||||||||||
Species | Human | Mouse | |||||||||
Entrez | n/a | n/a | |||||||||
Ensembl | n/a | n/a | |||||||||
UniProt | n/a | n/a | |||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||
RefSeq (protein) | n/a | n/a | |||||||||
Location (UCSC) | n/a | n/a | |||||||||
PubMed search | n/a | n/a |
Sal-like 1 (Drosophila), also known as SALL1, is a human gene.[1]
References
Further reading
- Nishinakamura R, Takasato M (2006). "Essential roles of Sall1 in kidney development". Kidney Int. 68 (5): 1948–50. doi:10.1111/j.1523-1755.2005.00626.x. PMID 16221172.
- Sweetman D, Münsterberg A (2006). "The vertebrate spalt genes in development and disease". Dev. Biol. 293 (2): 285–93. doi:10.1016/j.ydbio.2006.02.009. PMID 16545361.
- Kohlhase J, Schuh R, Dowe G; et al. (1997). "Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt". Genomics. 38 (3): 291–8. doi:10.1006/geno.1996.0631. PMID 8975705.
- Kohlhase J, Wischermann A, Reichenbach H; et al. (1998). "Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome". Nat. Genet. 18 (1): 81–3. doi:10.1038/ng0198-81. PMID 9425907.
- Kohlhase J, Taschner PE, Burfeind P; et al. (1999). "Molecular analysis of SALL1 mutations in Townes-Brocks syndrome". Am. J. Hum. Genet. 64 (2): 435–45. PMID 9973281.
- Marlin S, Blanchard S, Slim R; et al. (2000). "Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient". Hum. Mutat. 14 (5): 377–86. doi:10.1002/(SICI)1098-1004(199911)14:5<377::AID-HUMU3>3.0.CO;2-A. PMID 10533063.
- Engels S, Kohlhase J, McGaughran J (2000). "A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype". J. Med. Genet. 37 (6): 458–60. PMID 10928856.
- Buck A, Archangelo L, Dixkens C, Kohlhase J (2000). "Molecular cloning, chromosomal localization, and expression of the murine SALL1 ortholog Sall1". Cytogenet. Cell Genet. 89 (3–4): 150–3. PMID 10965108.
- Surka WS, Kohlhase J, Neunert CE; et al. (2001). "Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects". Am. J. Med. Genet. 102 (3): 250–7. PMID 11484202.
- Netzer C, Rieger L, Brero A; et al. (2002). "SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin". Hum. Mol. Genet. 10 (26): 3017–24. PMID 11751684.
- Kiefer SM, McDill BW, Yang J, Rauchman M (2002). "Murine Sall1 represses transcription by recruiting a histone deacetylase complex". J. Biol. Chem. 277 (17): 14869–76. doi:10.1074/jbc.M200052200. PMID 11836251.
- Ma Y, Chai L, Cortez SC; et al. (2002). "SALL1 expression in the human pituitary-adrenal/gonadal axis". J. Endocrinol. 173 (3): 437–48. PMID 12065233.
- Netzer C, Bohlander SK, Rieger L; et al. (2002). "Interaction of the developmental regulator SALL1 with UBE2I and SUMO-1". Biochem. Biophys. Res. Commun. 296 (4): 870–6. PMID 12200128.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Sato A, Kishida S, Tanaka T; et al. (2004). "Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin". Biochem. Biophys. Res. Commun. 319 (1): 103–13. doi:10.1016/j.bbrc.2004.04.156. PMID 15158448.
- Suzuki Y, Yamashita R, Shirota M; et al. (2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMID 15342556.
- Botzenhart EM, Green A, Ilyina H; et al. (2006). "SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype". Hum. Mutat. 26 (3): 282. doi:10.1002/humu.9362. PMID 16088922.
- Kimura K, Wakamatsu A, Suzuki Y; et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560.
- Borozdin W, Steinmann K, Albrecht B; et al. (2006). "Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome". Hum. Mutat. 27 (2): 211–2. doi:10.1002/humu.9396. PMID 16429401.
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