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FLASH GENE

Symbol

CHST14

contributors: mct/npt - updated : 21-12-2009

HGNC name	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
HGNC id	24464

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ATCS adducted thumb-clubfoot syndrome
Location	15q15.1      Physical location : 40.763.159 - 40.765.355
Synonym name	dermatan 4 sulfotransferase 1
	carbohydrate sulfotransferase D4ST1
Synonym symbol(s)	D4ST-1, HD4ST, HNK1ST, D4ST1
EC.number	2.8.2.-

DNA

TYPE	functioning gene
STRUCTURE	2.14 kb     1 Exon(s)

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_130468 1 - 2156 NP_569735 42 376 - Mikami (2003)

EXPRESSION

Type	ubiquitous

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 endocrine brain diencephalon pituitary   highly Endocrine pancreas           thyroid         Reproductive female system uterus     highly   male system prostate         male system testis       Respiratory lung       highly Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	placenta (highly), eye

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a 43-amino acid cytoplasmic domain
	a 316-amino acid luminal domain
	two potential N-linked glycosylation sites

HOMOLOGY

interspecies

homolog to Drosophila CG7015

intraspecies

homolog to HNK-1 sulfotransferase

Homologene

FAMILY	type II membrane protein family
	sulfotransferase 2 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
text	type 2 membrane protein

basic FUNCTION	transfering sulfate to the C-4 hydroxyl of beta1,4-linked GalNAc that is substituted with an alpha-linked iduronic acid (IdoUA) at the C-3 hydroxyl
	having specificity with predominant preference for IdoUA-GalNAc flanked by GlcUA-GalNAc over IdoUA-GalNAc flanked by IdoUA-GalNAc in exhaustively desulfated dermatan (Mikami 2003)
	role in development and extracellular-matrix maintenance (Dundar 2009)
	transfers active sulfate from 3'-phosphoadenosine 5'-phosphosulfate to position 4 of the N-acetyl-D-galactosamine (GalNAc) residues of dermatan sulfate (DS)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ATCS

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS