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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 **all 5** entries
GO Term	Evidence Code	PMID
heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	IBA
heparin metabolic process	IEA
gene expression	IEA
ureteric bud formation	IEA
heparan sulfate proteoglycan biosynthetic process, enzymatic modification	IBA TAS

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
membrane	HDA	19946888
Golgi membrane	TAS

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

organelle membrane [inference]

bounding membrane of organelle [inference]

Golgi membrane

Displaying 1 entry
GO Term	Evidence Code	PMID
heparan sulfate 2-O-sulfotransferase activity	IBA TAS

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

Gene Ontology information from NCBI Gene and UniProt.

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
Rattus norvegicus	XP_214740	XM_214740
Drosophila melanogaster	NP_477339	NM_057991
Caenorhabditis elegans	NP_509871	NM_077470
Mus musculus	NP_035958	NM_011828

Disease

Disease Ontology

Displaying **all 8** entries
DO ID	Disease Name	Source
DOID:1909	melanoma	DisGeNET
DOID:350	mastocytosis	DisGeNET DisGeNET
DOID:3664	mast cell neoplasm	DisGeNET DisGeNET
DOID:4658	benign mastocytoma	DisGeNET DisGeNET DisGeNET
DOID:4659	extracutaneous mastocytoma	DisGeNET DisGeNET DisGeNET
DOID:4660	indolent systemic mastocytosis	DisGeNET DisGeNET
DOID:8923	skin melanoma	DisGeNET
DOID:999	hypereosinophilic syndrome	DisGeNET DisGeNET

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 **1 - 10** of 75 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	181309	WB:WBGene00002029
Drosophila melanogaster	44433	FB:FBgn0024230
Danio rerio	791188	ZFIN:ZDB-GENE-070112-2312	DANRE30141
Danio rerio	100151174	ZFIN:ZDB-GENE-100304-1
Astyanax mexicanus	103039689		ASTMX03149
Electrophorus electricus	113588230		ELEEL01463
Salmo salar	100380444		SALSA70185
Salmo salar	106598897		SALSA19398
Salmo trutta	115156694		SALTR62620
Salmo trutta	115170008		SALTR40962

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

GlycoGene Database (GGDB)

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements