SALL1

From Wikipedia, the free encyclopedia

Sal-like 1 (Drosophila)

Identifiers

SALL1; HSAL1; TBS; ZNF794

External IDs

OMIM: 602218 MGI: 1889585 HomoloGene: 2230

Gene ontology
Molecular Function:	• transcription factor activity • zinc ion binding • metal ion binding
Cellular Component:	• intracellular • nucleus
Biological Process:	• ureteric bud development • transcription • regulation of transcription, DNA-dependent • anatomical structure morphogenesis • inductive cell-cell signaling

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_002968 (mRNA)
NP_002959 (protein)

NM_021390 (mRNA)
NP_067365 (protein)

Location

Chr 16: 49.73 - 49.74 Mb

Chr 8: 91.92 - 91.93 Mb

Pubmed search

[1]

[2]

Sal-like 1 (Drosophila), also known as SALL1, is a human gene.^[1]

[edit] References

^ Entrez Gene: SALL1 sal-like 1 (Drosophila).

[edit] 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.