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FLASH GENE

Symbol

SALL3

contributors: shn/npt - updated : 21-05-2009

HGNC name	sal-like 3 (Drosophila)
HGNC id	10527

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	18q23      Physical location : 76.740.274 - 76.758.191
Synonym name	sal (Drosophila)-like 3
	C2H2 zinc finger protein SALL3
	spalt-like zinc finger protein
Synonym symbol(s)	SAL3, ZNF796

DNA

TYPE	functioning gene
STRUCTURE	17.92 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D18S461 - D18S1122 - SALL3 - D18S1141 - D18S1095 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 3 - 4775 variant 1 - 1300 - -

EXPRESSION

Type

widely

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 Cardiovascular heart       highly Digestive liver       moderately Endocrine pancreas       moderately Nervous brain       lowly Reproductive female system placenta     lowly Urinary kidney       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   moderately

cell lineage
cell lines	FLC4 cells of HCC cell lines
fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	brain, hippocampus, cerebellum, putamen, cortex

IMPRINTING

paternally

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four conserved double zinc finger (DZF) domains containing sequences related to the SAL box domain of Drosophila
	eight C2H2 zinc finger domains
	four C2H2 fingers make 2 units of a DZF motif
	a KRAB domain

HOMOLOGY

interspecies	ortholog to Sall3, Pan troglodytes
	ortholog to Sall3, Rattus norvegicus
	ortholog to Sall3, Mus musculus

Homologene

FAMILY	SAL family of C2H2 type zinc finger domain
	SPALT family zinc-finger transcription factors

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	required for the development of nerves that are derived from the hindbrain and for the formation of adjacent branchial arch derivatives
	may be involved in transcriptional regulation
	involved in embryonic development
	SALL3 is a cellular factor that inhibit the activity and the association with chromatin of DNA methyltransferase 3 alpha (DNMT3A)
	potentially regulates the differentiation of horizontal interneurons, which form direct synaptic contacts with cone photoreceptors
	potential factor that regulates terminal differentiation of both cone photoreceptors and their postsynaptic partners

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	DNA methyltransferase 3 alpha (DNMT3A) through its DZF motif and the PWWP domain of DNMT3A
	less readily with DNMT3B

cell & other

REGULATION

induced by

BMP-4

Other	inactivation of SALL3 by DNA methylation accelerates aberrant
		DNA methylation in hepatocellular carcinoma

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion --low   in 18q del syndrome

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Sall3 homozygous mutant mice died after birth with deficiencies in cranial nerves