SALL1

SALL1
Identifiers
Aliases	SALL1, HEL-S-89, HSAL1, Sal-1, TBS, ZNF794, spalt-like transcription factor 1, spalt like transcription factor 1
External IDs	MGI: 1889585 HomoloGene: 2230 GeneCards: SALL1
Gene location (Human)
Chr.	Chromosome 16 (human)[1]
End	51,151,367 bp[1]
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)[2]
End	89,044,162 bp[2]
RNA expression pattern
	More reference expression data
Gene ontology
Molecular function	• DNA binding; • sequence-specific DNA binding; • beta-catenin binding; • histone deacetylase activity; • transcription factor activity, sequence-specific DNA binding; • metal ion binding; • RNA polymerase II core promoter proximal region sequence-specific DNA binding; • transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding; • protein binding; • nucleic acid binding; • transcription regulatory region DNA binding; • RNA polymerase II transcription factor activity, sequence-specific DNA binding;
Cellular component	• cytoplasm; • NuRD complex; • nucleoplasm; • heterochromatin; • chromocenter; • cell nucleus;
Biological process	• neurogenesis; • ureteric bud development; • pituitary gland development; • kidney epithelium development; • inductive cell-cell signaling; • regulation of transcription, DNA-templated; • olfactory bulb mitral cell layer development; • ventricular septum development; • olfactory bulb interneuron differentiation; • somatic stem cell population maintenance; • kidney development; • embryonic digit morphogenesis; • mesenchymal to epithelial transition involved in metanephros morphogenesis; • outer ear morphogenesis; • olfactory nerve development; • negative regulation of transcription from RNA polymerase II promoter; • adrenal gland development; • ureteric bud invasion; • transcription, DNA-templated; • limb development; • positive regulation of Wnt signaling pathway; • positive regulation of transcription, DNA-templated; • heart development; • branching involved in ureteric bud morphogenesis; • negative regulation of transcription, DNA-templated; • gonad development; • embryonic digestive tract development; • positive regulation of transcription from RNA polymerase II promoter; • histone deacetylation;
	Sources:Amigo / QuickGO
Orthologs
	6299
	58198
	ENSG00000103449
	ENSMUSG00000031665
	Q9NSC2
	Q9ER74; Q6P5E3
	NM_001127892; NM_002968
	NM_021390
	NP_001121364; NP_002959
	NP_067365
	Wikidata
View/Edit Human	View/Edit Mouse

Sal-like 1 (Drosophila), also known as SALL1, is a protein which in humans is encoded by the SALL1 gene.^[5]^[6] As the full name suggests, it is one of the human versions of the spalt (sal) gene known in Drosophila.

Function

The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase (HDAC) complex.^[5]

Clinical significance

Defects in this gene are a cause of Townes–Brocks syndrome (TBS) as well as branchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene.^[5]

Interactions

SALL1 has been shown to interact with TERF1^[7] and UBE2I.^[8]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000103449 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031665 - Ensembl, May 2017
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
1 2 3 "Entrez Gene: SALL1 sal-like 1 (Drosophila)".
↑ Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W (Jan 1998). "Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome". Nature Genetics. 18 (1): 81–3. doi:10.1038/ng0198-81. PMID 9425907.
↑ Netzer C, Rieger L, Brero A, Zhang CD, Hinzke M, Kohlhase J, Bohlander SK (Dec 2001). "SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin". Human Molecular Genetics. 10 (26): 3017–24. doi:10.1093/hmg/10.26.3017. PMID 11751684.
↑ Netzer C, Bohlander SK, Rieger L, Müller S, Kohlhase J (Aug 2002). "Interaction of the developmental regulator SALL1 with UBE2I and SUMO-1". Biochemical and Biophysical Research Communications. 296 (4): 870–6. doi:10.1016/S0006-291X(02)02003-X. PMID 12200128.

External links

GeneReviews/NCBI/NIH/UW entry on Townes-Brocks Syndrome

Nishinakamura R, Takasato M (Nov 2005). "Essential roles of Sall1 in kidney development". Kidney International. 68 (5): 1948–50. doi:10.1111/j.1523-1755.2005.00626.x. PMID 16221172.
Sweetman D, Münsterberg A (May 2006). "The vertebrate spalt genes in development and disease". Developmental Biology. 293 (2): 285–93. doi:10.1016/j.ydbio.2006.02.009. PMID 16545361.
Kohlhase J, Schuh R, Dowe G, Kühnlein RP, Jäckle H, Schroeder B, Schulz-Schaeffer W, Kretzschmar HA, Köhler A, Müller U, Raab-Vetter M, Burkhardt E, Engel W, Stick R (Dec 1996). "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, Froster U, Engel W (Jan 1998). "Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome". Nature Genetics. 18 (1): 81–3. doi:10.1038/ng0198-81. PMID 9425907.
Kohlhase J, Taschner PE, Burfeind P, Pasche B, Newman B, Blanck C, Breuning MH, ten Kate LP, Maaswinkel-Mooy P, Mitulla B, Seidel J, Kirkpatrick SJ, Pauli RM, Wargowski DS, Devriendt K, Proesmans W, Gabrielli O, Coppa GV, Wesby-van Swaay E, Trembath RC, Schinzel AA, Reardon W, Seemanova E, Engel W (Feb 1999). "Molecular analysis of SALL1 mutations in Townes-Brocks syndrome". American Journal of Human Genetics. 64 (2): 435–45. doi:10.1086/302238. PMC 1377753. PMID 9973281.
Marlin S, Blanchard S, Slim R, Lacombe D, Denoyelle F, Alessandri JL, Calzolari E, Drouin-Garraud V, Ferraz FG, Fourmaintraux A, Philip N, Toublanc JE, Petit C (2000). "Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient". Human Mutation. 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 (Jun 2000). "A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype". Journal of Medical Genetics. 37 (6): 458–60. doi:10.1136/jmg.37.6.458. PMC 1734618. PMID 10928856.
Buck A, Archangelo L, Dixkens C, Kohlhase J (2000). "Molecular cloning, chromosomal localization, and expression of the murine SALL1 ortholog Sall1". Cytogenetics and Cell Genetics. 89 (3–4): 150–3. doi:10.1159/000015598. PMID 10965108.
Surka WS, Kohlhase J, Neunert CE, Schneider DS, Proud VK (Aug 2001). "Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects". American Journal of Medical Genetics. 102 (3): 250–7. doi:10.1002/1096-8628(20010815)102:3<250::AID-AJMG1479>3.0.CO;2-Q. PMID 11484202.
Netzer C, Rieger L, Brero A, Zhang CD, Hinzke M, Kohlhase J, Bohlander SK (Dec 2001). "SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin". Human Molecular Genetics. 10 (26): 3017–24. doi:10.1093/hmg/10.26.3017. PMID 11751684.
Kiefer SM, McDill BW, Yang J, Rauchman M (Apr 2002). "Murine Sall1 represses transcription by recruiting a histone deacetylase complex". The Journal of Biological Chemistry. 277 (17): 14869–76. doi:10.1074/jbc.M200052200. PMID 11836251.
Ma Y, Chai L, Cortez SC, Stopa EG, Steinhoff MM, Ford D, Morgan J, Maizel AL (Jun 2002). "SALL1 expression in the human pituitary-adrenal/gonadal axis". The Journal of Endocrinology. 173 (3): 437–48. doi:10.1677/joe.0.1730437. PMID 12065233.
Netzer C, Bohlander SK, Rieger L, Müller S, Kohlhase J (Aug 2002). "Interaction of the developmental regulator SALL1 with UBE2I and SUMO-1". Biochemical and Biophysical Research Communications. 296 (4): 870–6. doi:10.1016/S0006-291X(02)02003-X. PMID 12200128.
Sato A, Kishida S, Tanaka T, Kikuchi A, Kodama T, Asashima M, Nishinakamura R (Jun 2004). "Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin". Biochemical and Biophysical Research Communications. 319 (1): 103–13. doi:10.1016/j.bbrc.2004.04.156. PMID 15158448.
Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, Nakai K, Sugano S (Sep 2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Research. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC 515316. PMID 15342556.
Botzenhart EM, Green A, Ilyina H, König R, Lowry RB, Lo IF, Shohat M, Burke L, McGaughran J, Chafai R, Pierquin G, Michaelis RC, Whiteford ML, Simola KO, Rösler B, Kohlhase J (Sep 2005). "SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype". Human Mutation. 26 (3): 282. doi:10.1002/humu.9362. PMID 16088922.
Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S (Jan 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Borozdin W, Steinmann K, Albrecht B, Bottani A, Devriendt K, Leipoldt M, Kohlhase J (Feb 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". Human Mutation. 27 (2): 211–2. doi:10.1002/humu.9396. PMID 16429401.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000103449 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031665 - Ensembl, May 2017

[3] "Human PubMed Reference:".

[4] "Mouse PubMed Reference:".

[entrez-5] 1 2 3 "Entrez Gene: SALL1 sal-like 1 (Drosophila)".

[pmid9425907-6] Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W (Jan 1998). "Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome". Nature Genetics. 18 (1): 81–3. doi:10.1038/ng0198-81. PMID 9425907.

[pmid11751684-7] Netzer C, Rieger L, Brero A, Zhang CD, Hinzke M, Kohlhase J, Bohlander SK (Dec 2001). "SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin". Human Molecular Genetics. 10 (26): 3017–24. doi:10.1093/hmg/10.26.3017. PMID 11751684.

[pmid12200128-8] Netzer C, Bohlander SK, Rieger L, Müller S, Kohlhase J (Aug 2002). "Interaction of the developmental regulator SALL1 with UBE2I and SUMO-1". Biochemical and Biophysical Research Communications. 296 (4): 870–6. doi:10.1016/S0006-291X(02)02003-X. PMID 12200128.