SALL1

Spalt-like transcription factor 1

Identifiers

SALL1 ; HEL-S-89; HSAL1; Sal-1; TBS; ZNF794

External IDs

OMIM: 602218 MGI: 1889585 HomoloGene: 2230 GeneCards: SALL1 Gene

Gene ontology
Molecular function	• RNA polymerase II core promoter proximal region sequence-specific DNA binding • transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding • DNA binding • chromatin binding • transcription factor activity, sequence-specific DNA binding • histone deacetylase activity • protein binding • beta-catenin binding • metal ion binding
Cellular component	• heterochromatin • nucleus • cytoplasm • chromocenter • NuRD complex
Biological process	• negative regulation of transcription from RNA polymerase II promoter • ureteric bud development • branching involved in ureteric bud morphogenesis • kidney development • neural tube closure • ventricular septum development • mesenchymal to epithelial transition involved in metanephros morphogenesis • negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis • transcription, DNA-templated • heart development • gonad development • histone deacetylation • olfactory nerve development • olfactory bulb interneuron differentiation • pituitary gland development • positive regulation of Wnt signaling pathway • adrenal gland development • inductive cell-cell signaling • forelimb morphogenesis • hindlimb morphogenesis • outer ear morphogenesis • embryonic digit morphogenesis • positive regulation of neuron differentiation • negative regulation of smoothened signaling pathway • negative regulation of transcription, DNA-templated • positive regulation of transcription, DNA-templated • positive regulation of transcription from RNA polymerase II promoter • embryonic digestive tract development • limb development • olfactory bulb mitral cell layer development • kidney epithelium development • ureteric bud invasion • mesenchymal stem cell maintenance involved in metanephric nephron morphogenesis • positive regulation of branching involved in ureteric bud morphogenesis • regulation of neural precursor cell proliferation
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 16:
51.14 – 51.15 Mb

Chr 8:
89.03 – 89.04 Mb

PubMed search

Sal-like 1 (Drosophila), also known as SALL1, is a protein which in humans is encoded by the SALL1 gene.^[1]^[2] 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.^[1]

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.^[1]

Interactions

SALL1 has been shown to interact with TERF1^[3] and UBE2I.^[4]

References

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.

Transcription factors and intracellular receptors

(1) Basic domains

(1.1) Basic leucine zipper (bZIP)	Activating transcription factor AATF 1 2 3 4 5 6 7 AP-1 c-Fos FOSB FOSL1 FOSL2 JDP2 c-Jun JUNB JunD BACH 1 2 BATF BLZF1 C/EBP α β γ δ ε ζ CREB 1 3 L1 CREM DBP DDIT3 GABPA HLF MAF B F G K NFE 2 L1 L2 L3 NFIL3 NRL NRF 1 2 3 XBP1

(1.2) Basic helix-loop-helix (bHLH)	ATOH1 AhR AHRR ARNT ASCL1 BHLH 2 3 9 ARNTL ARNTL ARNTL2 CLOCK EPAS1 FIGLA HAND 1 2 HES 5 6 HEY 1 2 L HES1 HIF 1A 3A ID 1 2 3 4 LYL1 MESP2 MXD4 MYCL1 MYCN Myogenic regulatory factors MyoD Myogenin MYF5 MYF6 Neurogenins 1 2 3 NeuroD 1 2 NPAS 1 2 3 OLIG 1 2 Pho4 Scleraxis SIM 1 2 TAL 1 2 Twist USF1

(1.3) bHLH-ZIP	AP-4 MAX MXD3 MITF MNT MLX MXI1 Myc SREBP 1 2

(1.4) NF-1	NFI A B C X SMAD R-SMAD 1 2 3 5 9 I-SMAD 6 7 4)

(1.5) RF-X	RFX 1 2 3 4 5 6 ANK

(1.6) Basic helix-span-helix (bHSH)	AP-2 α β γ δ ε

(2) Zinc finger DNA-binding domains

(2.1) Nuclear receptor (Cys₄)

subfamily 1	Thyroid hormone α β CAR FXR LXR α β PPAR α β/δ γ PXR RAR α β γ ROR α β γ Rev-ErbA α β VDR

subfamily 2	COUP-TF (I II Ear-2 HNF4 α γ PNR RXR α β γ Testicular receptor 2 4 TLX

subfamily 3	Steroid hormone Androgen Estrogen α β Glucocorticoid Mineralocorticoid Progesterone Estrogen related α β γ

subfamily 4	NUR NGFIB NOR1 NURR1

subfamily 5	LRH-1 SF1

subfamily 6	GCNF

subfamily 0	DAX1 SHP

(2.2) Other Cys₄

GATA
- 1
- 2
- 3
- 4
- 5
- 6
MTA
- 1
- 2
- 3
TRPS1

(2.3) Cys₂His₂

General transcription factors
- TFIIA
- TFIIB
- TFIID
- TFIIE
  - 1
  - 2
- TFIIF
- 1
- 2
  - TFIIH
  - 1
  - 2
  - 4
  - 2I
  - 3A
  - 3C1
  - 3C2

ATBF1
BCL
- 6
- 11A
- 11B
CTCF
E4F1
EGR
- 1
- 2
- 3
- 4
ERV3
GFI1
GLI-Krüppel family
- 1
- 2
- 3
- REST
- S1
- S2
- YY1
HIC
- 1
- 2
HIVEP
- 1
- 2
- 3
IKZF
- 1
- 2
- 3
ILF
- 2
- 3
KLF
- 1
- 2
- 3
- 4
- 5
- 6
- 7
- 8
- 9
- 10
- 11
- 12
- 13
- 14
- 15
- 17
MTF1
MYT1
OSR1
PRDM9
SALL
- 1
- 2
- 3
- 4
SP
- 1
- 2
- 4
- 7
- 8
TSHZ3
WT1
Zbtb7
- 7A
- 7B
ZBTB
- 11
- 16
- 17
- 20
- 32
- 33
- 40
zinc finger
- 3
- 7
- 9
- 10
- 19
- 22
- 24
- 33B
- 34
- 35
- 41
- 43
- 44
- 51
- 74
- 143
- 146
- 148
- 165
- 202
- 217
- 219
- 238
- 239
- 259
- 267
- 268
- 281
- 295
- 300
- 318
- 330
- 346
- 350
- 365
- 366
- 384
- 423
- 451
- 452
- 471
- 593
- 638
- 644
- 649
- 655

(2.4) Cys₆

HIVEP1

(2.5) Alternating composition

AIRE
DIDO1
GRLF1
ING
- 1
- 2
- 4
JARID
- 1A
- 1B
- 1C
- 1D
- 2
JMJD1B

(2.6) WRKY

WRKY

(3) Helix-turn-helix domains

(3.1) Homeodomain	ARX CDX 1 2 CRX CUTL1 DBX 1 2 DLX 3 4 5 EMX 1 2 EN 1 2 FHL 1 2 3 HESX1 HHEX HLX Homeobox A1 A2 A3 A4 A5 A7 A9 A10 A11 A13 B1 B2 B3 B4 B5 B6 B7 B8 B9 B13 C4 C5 C6 C8 C9 C10 C11 C12 C13 D1 D3 D4 D8 D9 D10 D11 D12 D13 HOPX IRX 1 2 3 4 5 6 MKX LMX 1A 1B MEIS 1 2 MEOX2 MNX1 MSX 1 2 NANOG NKX 2-1 2-2 2-3 2-5 3-1 3-2 6-1 6-2 NOBOX PBX 1 2 3 PHF 1 3 6 8 10 16 17 20 21A PHOX 2A 2B PITX 1 2 3 POU domain PIT-1 BRN-3: A B C Octamer transcription factor: 1 2 3/4 6 7 11 OTX 1 2 PDX1 SATB2 SHOX2 SIX 1 2 3 4 5 VAX1 ZEB 1 2

(3.2) Paired box	PAX 1 2 3 4 5 6 7 8 9 PRRX 1 2 RAX

(3.3) Fork head / winged helix	E2F 1 2 3 4 5 FOX proteins A1 A2 A3 C1 C2 D3 D4 E1 E3 F1 G1 H1 I1 J1 J2 K1 K2 L2 M1 N1 N3 O1 O3 O4 P1 P2 P3 P4

(3.4) Heat shock factors	HSF 1 2 4

(3.5) Tryptophan clusters	ELF 2 4 5 EGF ELK 1 3 4 ERF ETS 1 2 ERG SPIB ETV 1 4 5 6 FLI1 Interferon regulatory factors 1 2 3 4 5 6 7 8 MYB MYBL2

(3.6) TEA domain	transcriptional enhancer factor 1 2 3 4

(4) β-Scaffold factors with minor groove contacts

(4.1) Rel homology region	NF-κB NFKB1 NFKB2 REL RELA RELB NFAT C1 C2 C3 C4 5

(4.2) STAT	STAT 1 2 3 4 5 6

(4.3) p53	p53 TBX 1 2 3 5 19 21 22 TBR1 TBR2 TFT MYRF TP63

(4.4) MADS box	Mef2 A B C D SRF

(4.6) TATA-binding proteins	TBP TBPL1

(4.7) High-mobility group	BBX HMGB 1 2 3 4 HMGN 1 2 3 4 HNF 1A 1B LEF1 SOX 1 2 3 4 5 6 8 9 10 11 12 13 14 15 18 21 SRY SSRP1 TCF 3 4 TOX 1 2 3 4

(4.9) Grainyhead	TFCP2

(4.10) Cold-shock domain	CSDA YBX1

(4.11) Runt	CBF CBFA2T2 CBFA2T3 RUNX1 RUNX2 RUNX3 RUNX1T1

(0) Other transcription factors

(0.2) HMGI(Y)	HMGA 1 2 HBP1

(0.3) Pocket domain	Rb RBL1 RBL2

(0.5) AP-2/EREBP-related factors	Apetala 2 EREBP B3

(0.6) Miscellaneous	ARID 1A 1B 2 3A 3B 4A CAP IFI 16 35 MLL 2 3 T1 MNDA NFY A B C Rho/Sigma

see also transcription factor/coregulator deficiencies

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