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FLASH GENE

Symbol

ST3GAL3

contributors: mct/ - updated : 19-11-2013

HGNC name	ST3 beta-galactoside alpha-2,3-sialyltransferase 3
HGNC id	10866

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EIEE15 Epileptic encephalopathy, early infantile 15 NSMR5 nonsyndromic mental retardation 5
Location	1p34.1      Physical location : 44.173.217 - 44.396.830
Synonym name	sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)
	Gal beta-1,3(4)GlcNAc alpha-2,3 sialyltransferase
	CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase
Synonym symbol(s)	ST3GALII, ST3N, ST3GALIII, SIAT6, ST3GALI, EIEE15, MRT12, ST3GalIII
EC.number	2.4.99.6

DNA

TYPE	functioning gene
STRUCTURE	223.63 kb     13 Exon(s)

regulatory sequence	Promoter
	Binding site   transcription factor
text structure	pIII promoter in 5' upstream of exon 1
	-303 to -1 region is important for transcriptional activity of the gene
	several putative transcriptional factor binding sites such as Sp1, MZF1, MyoD, USF, AP1, Lyf1
	Sp1 may be important for gene expression
	potential negative and positive regulatory element within -544 to -303 and to -303 to -1 regions respectively

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_174963 13 - 2549 NP_777623 49 444 - 2010 19727557 also called A8 or variant 1/isoform a the longest isoform NM_174964 12 - 2316 NP_777624 43 390 - 2010 19727557 also called A1 or variant 2/isoform b lacks an alternate in frame exon, resulting in a shorter isoform A1 compared to isoform a NM_174965 7 - 1675 NP_777625 19 170 - 2010 19727557 also called A7 or variant 3/isoform c a frameshift in the coding region, resulting in a shorter isoform A7 whith a distinct C-terminus compared to isoform a NM_174966 10 - 1977 NP_777626 31 277 - 2010 19727557 differences in coding regon but reading frame is maintained. A distinct and shorter C-terminus also called B4 or variant 4/isoform d NM_174967 12 - 1630 NP_777627 - 155 - 2010 19727557 also called B7 or variant 5/isoform e a frameshift resulting in a shorter isoform B7 with a distinct C-terminus NM_174968 13 splicing 2504 NP_777628 48 429 - 2010 19727557 also called B8 or variant 6/isoform f an alternate in-frame splice site resulting in a shorter isoform B8 NM_174969 11 - 2223 NP_777629 40 359 - 2010 19727557 also called C1 or variant 7/isoform g reading frame is maintained but the resulting isoform C1 is shorter NM_174970 6 - 1582 NP_777630 15 139 - 2010 19727557 also called C7 or variant 8/isoform h a frameshift resulting in a shorter isoform C7 with a distinct C-terminus NM_174971 12 - 2456 NP_777631 46 413 - 2010 19727557 also called C8 or variant 9/isoform i lacks an alternate in frame segment, resulting in a shorter isoform C8 NM_006279 12 - 2271 NP_006270 42 375 - 2010 19727557 also called variant 10/isoform j reading frame is maintained but the resulting isoform B1 is shorter NM_001270465 8 - 1836 NP_001257394 - 185 - 2010 19727557 NM_001270463 8 - 1810 NP_001257392 - 201 - 2010 19727557 NM_001270459 12 - 2204 NP_001257388 - 345 - 2010 19727557 NM_001270460 11 - 2201 NP_001257389 - 344 - 2010 19727557 NM_001270461 9 - 1952 NP_001257390 - 261 - 2010 19727557 NM_001270464 8 - 1765 NP_001257393 - 186 - 2010 19727557 NM_001270466 5 - 1510 NP_001257395 - 101 - 2010 19727557 NM_001270462 8 - 1859 NP_001257391 - 230 - 2010 19727557

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 Digestive liver       lowly Respiratory lung       lowly

tissue

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

cell lineage
cell lines	leukemia, colon adenocarcinoma, prostate adenocarcinoma, and hepatocellular carcinoma cell lines
fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	highly in fetal tissues, lowly in placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	sialyl motifs L, S, and VS, (L and S previously demonstrated their involvement in the binding of donor and acceptor substrates)
	region comprised between the sialyl motifs S and VS contains a stretch of four highly conserved residues, with the following consensus sequence (H/y)Y(Y/F/W/h)(E/D/q/g)
	four N-glycan attachment sites in its catalytic domain that are potentially glycosylated (N-glycosylation appears to contribute to the proper folding and trafficking of the enzyme)

conjugated

GlycoP

isoforms

Precursor

the soluble form derives from the transmembrane form by proteolytic processing

HOMOLOGY

interspecies

homolog to murine Siat6

Homologene

FAMILY

vertebrate sialyltransferase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
text	type II membrane protein
	membrane-bound form in tran-cisternae of Golgi
	soluble form in body fluids

basic FUNCTION	transfering sialic acid to terminal positions on the carbohydrate groups of glycoproteins and glycolipids
	being key determinants for a variety of cellular recognition processes
	sialyltransferase involved in the biosynthesis of sialyl-Lewis epitopes on cell surface-expressed glycoproteins

CELLULAR PROCESS

protein, post translation

PHYSIOLOGICAL PROCESS

text	glycosylation

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

plays an important role in SIGLEC5 ligand formation and eosinophil apoptosis with resultant effects on eosinophilic inflammation in the lung

cell & other

REGULATION

Other

regulated by all-trans-retinoic acid (RA) (RA is a significant regulator of GALM and other galactose-related genes in myeloid-monocytic cells, which could affect energy utilization and synthesis of cell-surface glycoproteins or glycolipids involved in cell motility, adhesion, and/or functional properties)

ASSOCIATED DISORDERS

corresponding disease(s)

EIEE15 , NSMR5

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in the pancreatic adenocarcinoma

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

ST3Gal-III heterozygote mice (deficient in expression of Siglec-F ligands) also had significantly enhanced OVA(OVA allergen)-induced eosinophilic airway inflammation associated with reduced eosinophil apoptosis