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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 **1 - 10** of 60 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000072	Hydroureter
HP:0000122	Unilateral renal agenesis
HP:0000154	Wide mouth
HP:0000158	Macroglossia
HP:0000176	Submucous cleft hard palate
HP:0000219	Thin upper lip vermilion
HP:0000278	Retrognathia
HP:0000280	Coarse facial features

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 **11 - 20** of 77 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Danio rerio	791188	Xenbase:XB-GENE-5953192	DANRE30141
Monodelphis domestica	100010181		MONDO10426
Equus caballus	100063266		HORSE34426
Ornithorhynchus anatinus	100074976		ORNAN19663
Xenopus tropicalis	100145562	Xenbase:XB-GENE-5953192
Xenopus tropicalis	100151174	Xenbase:XB-GENE-5953192
Sus scrofa	100156232		PIGXX24774
Pongo abelii	100173485		PONAB16971
Taeniopygia guttata	100228316		TAEGU28853
Oryctolagus cuniculus	100352170		RABIT03732

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LM-GlycoRepo

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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