Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

SALL1

contributors: mct/pgu - updated : 21-02-2018

HGNC name	sal-like 1 (Drosophila)
HGNC id	10524

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	TBS Townes-Brocks syndrome
Location	16q12.1      Physical location : 51.169.885 - 51.185.183
Synonym name	spalt-like transcription factor 1
	zinc finger protein SALL1
	zinc finger protein Spalt-1
Synonym symbol(s)	HSAL1, SAL1, ZNF794, TBS, Sal-1, HEL-S-89

DNA

TYPE	functioning gene
STRUCTURE	15.30 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002968 3 - 5143 NP_002959 140.4 1324 - 1996 8975705 NM_001127892 3 - 5253 NP_001121364 129.4 1227 - 1996 8975705

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver         Endocrine adrenal gland cortex         neuroendocrine pituitary       Nervous brain hindbrain cerebellum       brain basal nuclei corpus callosum     Reproductive male system testis       Urinary kidney

cells

System Cell Pubmed Species Stage Rna symbol Nervous glia Homo sapiens Reproductive Sertoli cell

cell lineage
cell lines	trophoblast tumor cell lines
fluid/secretion

at STAGE

physiological period

fetal

Text	brain (neurons of subependymal region of hypothalamus), liver, placenta, fetal Leydig cells

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a C2HC zinc finger motif at the N terminus not present in SAL
	four double zinc finger motifs (DZP) with a simple domain C2H2 associated to the third domain, (GALD4DB)
	including glutamamine proline alanine and serine rich regions
	one KRAB domain

HOMOLOGY

interspecies

homolog to Drosophila homeotic gene Sal-like 1

intraspecies

homolog to SALL3

Homologene

FAMILY

sal C2H2-type zinc-finger protein family

CATEGORY

DNA associated , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome,heterochromosome
text	nuclear localization to punctate nuclear foci (pericentromeric heterochromatin)

basic FUNCTION	transcriptional repressor involved in organogenesis
	having an important role in the interaactions of the pituitary-adrenal/gonadal axis during reproduction
	enhancing the canonical Wnt signaling by localizing to heterochromatin
	zinc-finger transcription factor linked to chromatin-mediated repression
	modulates gene expression and regulates organogenesis, including kidney development
	induces angiogenesis by stimulating VEGFA promoter activity
	essential for ureteric bud attraction in kidney development
	SALL1-dependent signals from the metanephric mesenchyme are required to modulate ureteric bud tip Wnt patterning in order to initiate branching
	multi-zinc finger transcription factor that regulates kidney organogenesis
	novel role for SALL1 as a member of the transcriptional network that regulates stem cell pluripotency
	nuclear transcription factor, is required to maintain the stemness of nephron progenitor cells 2)
	role for SALL1 in maintaining the stemness of the progenitor cell pool by restraining their differentiation into renal vesicles 2)
	SALL1, is expressed in SIX2-positive progenitors as well as differentiating nascent nephrons, and it is essential for kidney formation
	SALL1 marks cardiac progenitor cells (CPCs) in an undifferentiated state and regulates cardiac differentiation
	regulates microglial morphology during development
	transcriptional regulation by SALL1 maintains microglial identity and physiological properties in the CNS and allows microglia-specific manipulation
	SALL1 is likely involved in feedback control, a common theme in SHH pathway regulation

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

text	transcriptional repressor

PATHWAY

metabolism

signaling

sensory transduction/hearing

a component

INTERACTION

DNA

RNA

small molecule

protein	TERF1,SALL ptoteins
	HDAC1, HDAC2, RBBP4, RBPP7, MTA1 and MTA2
	GBX2 is a direct target gene of SALL1, and is directly repressed in a NuRD-dependent fashion
	interacts with KIF26B (KIF26B acts downstream of SALL1 and regulates the adhesion of mesenchymal cells surrounding ureteric buds)
	expressed in a differentiation-dependent manner and physically interacts with NANOg and SOX2, two components of the core pluripotency network
	SALL1 activates progenitor-related genes in SIX2-positive nephron progenitors and represses gene expression in SIX2-negative differentiating nascent nephrons
	is required for normal expression of SALL1 and other microglial genes that are important for microglial development and function
	interacts with the nucleosome remodeling and deacetylase complex (NuRD) to inhibit premature differentiation of nephron progenitor cells
	important function of SALL1-NuRD interaction in the regulation of SIX2-positive multipotent renal progenitor cells and formation of the loop of Henle
	both endogenous CCP110 and CEP97 were able to bind to both SALL1FL and SALL1 mutant
	TRIM21 degrades both SALL1 and SALL4

cell & other

REGULATION

Other

regulation of its activity during development through post-translational modification by sumoylation

ASSOCIATED DISORDERS

corresponding disease(s)

TBS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --other   aberrantly methylated promoter associated CpG islands in acute lymphocytic leukemia

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Sall1 deletion in Six2-positive nephron progenitors results in severe progenitor depletion and apoptosis of the differentiating nephrons in mice