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heparan sulfate 2-O-sulfotransferase 1

Summary

Gene Symbol

HS2ST1

Aliases

KIAA0448

Organism

Homo sapiens (human)

External Links

NCBI Gene

9653

GGDB ID

gg024

HGNC

5193

mRNA

NM_012262

map

1p31.1-p22.1

Protein

NP_036394

OMIM

604844

KEGG Gene ID

hsa:9653

PubChem

9653

Alliance of Genome Resources

HGNC:5193

Annotation

Keyword

Alternative splicing
Disease variant
Disulfide bond
Glycoprotein
Golgi apparatus
Intellectual disability
Reference proteome
Signal-anchor
Transferase
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
Q7LGA3

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
gene expression	IEA
heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	IBA
heparan sulfate proteoglycan biosynthetic process, enzymatic modification	TAS
heparan sulfate proteoglycan biosynthetic process, enzymatic modification	IBA
heparin metabolic process	IEA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

glycosaminoglycan metabolic process [inference]

mucopolysaccharide metabolic process [inference]

heparin metabolic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

heparan sulfate proteoglycan metabolic process [inference]

heparan sulfate proteoglycan biosynthetic process, enzymatic modification

biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

gene expression

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

gene expression

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

cellular metabolic process [inference]

sulfur compound metabolic process [inference]

heparin metabolic process

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

gene expression

primary metabolic process [inference]

carbohydrate metabolic process [inference]

polysaccharide metabolic process [inference]

polysaccharide biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

heparan sulfate proteoglycan metabolic process [inference]

heparan sulfate proteoglycan biosynthetic process, enzymatic modification

organic substance metabolic process [inference]

carbohydrate metabolic process [inference]

polysaccharide metabolic process [inference]

polysaccharide biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

macromolecule metabolic process [inference]

polysaccharide metabolic process [inference]

polysaccharide biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

aminoglycan metabolic process [inference]

glycosaminoglycan metabolic process [inference]

mucopolysaccharide metabolic process [inference]

heparin metabolic process

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

gene expression

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

heparan sulfate proteoglycan metabolic process [inference]

heparan sulfate proteoglycan biosynthetic process, enzymatic modification

carbohydrate derivative metabolic process [inference]

aminoglycan metabolic process [inference]

glycosaminoglycan metabolic process [inference]

mucopolysaccharide metabolic process [inference]

heparin metabolic process

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

heparan sulfate proteoglycan metabolic process [inference]

heparan sulfate proteoglycan biosynthetic process, enzymatic modification

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

glycosaminoglycan metabolic process [inference]

mucopolysaccharide metabolic process [inference]

heparin metabolic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

heparan sulfate proteoglycan metabolic process [inference]

heparan sulfate proteoglycan biosynthetic process, enzymatic modification

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

gene expression

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

sulfur compound metabolic process [inference]

heparin metabolic process

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

gene expression

developmental process [inference]

anatomical structure formation involved in morphogenesis [inference]

tube formation [inference]

epithelial tube formation [inference]

embryonic epithelial tube formation [inference]

nephron tubule formation [inference]

mesonephric tubule formation [inference]

ureteric bud formation

Displaying **all 2** entries
GO Term	Evidence Code	PMID
Golgi membrane	TAS
membrane	HDA	19946888

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

organelle membrane [inference]

bounding membrane of organelle [inference]

Golgi membrane

Displaying **all 4** entries
GO Term	Evidence Code	PMID
heparan sulfate 2-O-sulfotransferase activity	ISS
heparan sulfate 2-O-sulfotransferase activity	TAS
heparan sulfate 2-O-sulfotransferase activity	IBA
protein binding	IPI	32814053

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

transferase activity, transferring sulphur-containing groups [inference]

sulfotransferase activity [inference]

heparan sulfate sulfotransferase activity [inference]

heparan sulfate 2-O-sulfotransferase activity

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

2-O-sulfotransferase

Functional Category

G: Carbohydrate transport and metabolism
H: Coenzyme transport and metabolism
M: Cell wall/membrane/envelope biogenesis

Displaying 1 entry
Gene Ontology
sulfotransferase activity

Displaying **all 3** entries
InterPro
Heparan sulphate 2-O-sulfotransferase
P-loop containing nucleoside triphosphate hydrolase
Sulfotransferase

Human Protein Atlas

ENSG00000153936

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

GlycoGene Database (GGDB)

GGDB ID

gg024

Gene Symbol

HS2ST1

Orthologous Gene

Displaying **all 4** entries
Species	Protein	mRNA
Drosophila melanogaster	NP_477339	NM_057991
Caenorhabditis elegans	NP_509871	NM_077470
Mus musculus	NP_035958	NM_011828
Rattus norvegicus	XP_214740	XM_214740

Disease

The Human Phenotype Ontology

Displaying entries **21 - 30** of 60 in total

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HPO ID	HPO Term
HP:0000582	Upslanted palpebral fissure
HP:0000627	Posterior embryotoxon
HP:0000629	Periorbital fullness
HP:0000691	Microdontia
HP:0000750	Delayed speech and language development
HP:0000767	Pectus excavatum
HP:0001134	Anterior polar cataract
HP:0001249	Intellectual disability
HP:0001252	Hypotonia
HP:0001263	Global developmental delay

Displaying 1 entry
Disease ID	Disease Name
OMIM:619194	neurofacioskeletal syndrome with or without renal agenesis

PubChem Disease

MedGen Diseases

Neurofacioskeletal syndrome with or without renal agenesis

OMIM Phenotypes

NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP003473
Gene Name: heparan sulfate 2-O-sulfotransferase 1

Ortholog

Displaying entries **1 - 10** of 77 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	9653	Xenbase:XB-GENE-5953192
Mus musculus	23908	Xenbase:XB-GENE-5953192	MOUSE38618
Xenopus tropicalis	44433	Xenbase:XB-GENE-5953192
Xenopus tropicalis	181309	Xenbase:XB-GENE-5953192
Rattus norvegicus	292155	Xenbase:XB-GENE-5953192	RATNO24159
Xenopus tropicalis	399095	Xenbase:XB-GENE-5953192
Xenopus tropicalis	414536	Xenbase:XB-GENE-5953192
Pan troglodytes	469374		PANTR21524
Canis lupus familiaris	479963		CANLF16938
Macaca mulatta	712540		MACMU23598

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Other Information

Tools

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Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

GlycoGene Database (GGDB)

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements