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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HS6ST1 Gene

protein-coding GIFtS: 56
GCID: GC02M128929

heparan sulfate 6-O-sulfotransferase 1

(Previous symbol: HS6ST)

Explore 3 diseases affiliated with
HS6ST1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Heparan Sulfate 6-O-Sulfotransferase 1¹ ²		Heparan-Sulfate 6-O-Sulfotransferase 1²
HS6ST¹ ² ³ ⁵		Heparan-Sulfate 6-Sulfotransferase²
HS6ST-1² ³		EC 2.8.2.-³
HH15²		EC 2.8.2⁸

External Ids:	HGNC: 5201¹	Entrez Gene: 9394²	Ensembl: ENSG00000136720⁷	OMIM: 604846⁵	UniProtKB: O60243³

Export aliases for HS6ST1 gene to outside databases

Previous GC identifers: GC02M126324 GC02M126947 GC02M129118 GC02M128741 GC02M121328

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HS6ST1:

The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate

biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry

out multiple biological activities. This enzyme is a type II integral membrane protein and is responsible for

6-O-sulfation of heparan sulfate. This enzyme does not share significant sequence similarity with other known

sulfotransferases. A pseudogene located on chromosome 1 has been found for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: H6ST1_HUMAN, O60243

Function: 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate

(PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_022135.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HS6ST1 gene promoter:
AhR POU3F1 MIF-1 C/EBPalpha Arnt AREB6 CREB HEN1 SRY deltaCREB
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HS6ST1 promoter sequence

Search SABiosciences Chromatin IP Primers for HS6ST1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HS6ST1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q21 Ensembl cytogenetic band: 2q14.3 HGNC cytogenetic band: 2q21

HS6ST1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HS6ST1 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M128929: view genomic region (about GC identifiers)

Start:	128,994,290 bp from pter	End:	129,076,171 bp from pter
Size:	81,882 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: H6ST1_HUMAN, O60243 (See protein sequence)

Recommended Name: Heparan-sulfate 6-O-sulfotransferase 1

Size: 411 amino acids; 48226 Da

Subcellular location: Membrane; Single-pass type II membrane protein (Potential)

Sequence caution: Sequence=AAY14736.1; Type=Erroneous initiation; Sequence=BAA25760.1; Type=Erroneous initiation;

Note=Translation N-terminally extended; Sequence=BAA25760.1; Type=Frameshift; Positions=5, 7; Sequence=BAG57153.1;

Type=Erroneous initiation;

Secondary accessions: B4DEP2 B4DJ29 Q53SL2 Q9BVI1

Alternative splicing: 2 isoforms: O60243-1 O60243-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HS6ST1: NX_O60243

Post-translational modifications:

N-glycosylated (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O60243

4/13 DME Specific Peptides for HS6ST1 (O60243) (see all 13)

GQKKCTC

QYNSTRA

DLFQQRY

MAFFGLTE

HS6ST1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_004798.3

ENSEMBL proteins:

ENSP00000259241

Reactome Protein details: O60243
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for HS6ST1 (Heparan Sulfate 6-O-Sulfotransferase 1/HS6ST1)
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	GenScript Custom Purified and Recombinant Proteins Services for HS6ST1
	Novus Biologicals HS6ST1 Protein Novus Biologicals HS6ST1 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for HS6ST1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000139	Golgi membrane	TAS	--
GO:0005887	integral to plasma membrane	TAS	9535912

HS6ST1 for ontologies About GeneDecksing

HS6ST1 Antibody Products:

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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for HS6ST1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HS6ST1 for domains About GeneDecksing

2 InterPro domains/families:

IPR010635 Heparan_SO4-6-sulfoTrfase

IPR005331 Sulfotransferase

Graphical View of Domain Structure for InterPro Entry O60243

ProtoNet protein and cluster: O60243

UniProtKB/Swiss-Prot: H6ST1_HUMAN, O60243

Similarity: Belongs to the sulfotransferase 6 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: H6ST1_HUMAN, O60243

Function: 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate

(PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate

Catalytic activity: 3'-phosphoadenylyl sulfate + [heparan sulfate]-glucosamine = adenosine 3',5'-bisphosphate +

[heparan sulfate]-glucosamine 6-sulfate

Enzyme Numbers (IUBMB): EC 2.8.2.-¹ EC 2.8.2²

miRNA Products:		OriGene 3'-UTR Clone: HS6ST1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HS6ST1
		8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate HS6ST1 (see all 34):
		hsa-miR-4305 hsa-miR-486-3p hsa-miR-629 hsa-miR-181b hsa-miR-1298 hsa-miR-320d hsa-miR-181a hsa-miR-587

		SwitchGear 3'UTR luciferase reporter plasmid: HS6ST1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HS6ST1 (see all 7) OriGene shRNA RFP: HS6ST1 Browse OriGene siRNA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HS6ST1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for HS6ST1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HS6ST1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HS6ST1 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: HS6ST1 (NM_004807)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for HS6ST1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HS6ST1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for HS6ST1
		Search LifeMap BioReagents cell lines for HS6ST1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HS6ST1

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008146	sulfotransferase activity	IEA	--

HS6ST1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Hs6st1^tm1Kkm for HS6ST1
     12 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Hs6st1):

cardiovascular system	cellular	embryogenesis	endocrine/exocrine gland	growth/size
homeostasis/metabolism	limbs/digits/tail	mortality/aging	no phenotypic analysis	respiratory system
skeleton	vision/eye

HS6ST1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

MPS IIIC - Sanfilippo syndrome C

8/16 pathways (see all 16)
MPS VI - Maroteaux-Lamy syndrome	1.00	MPS IIIA - Sanfilippo syndrome A	1.00
MPS IIIC - Sanfilippo syndrome C	1.00	MPS IIID - Sanfilippo syndrome D	1.00
MPS I - Hurler syndrome	1.00	MPS IX - Natowicz syndrome	1.00
Mucopolysaccharidoses	1.00	MPS II - Hunter syndrome	1.00

heparan sulfate biosynthesis

	heparan sulfate biosynthesis	1.00			heparan sulfate biosynthesis (late stages)	0.78
	Glycosaminoglycan biosynthesis - heparan sulfate	0.83

Disease

Disease

1.00

Metabolism

Metabolism

1.00

Articular Cartilage Extracellular Matrix

Articular Cartilage Extracellular Matrix

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 R&D Systems Pathway for HS6ST1

Articular Cartilage Extracellular Matrix

3 BioSystems Pathways for HS6ST1

	heparan sulfate biosynthesis (late stages)
	heparan sulfate biosynthesis
	metapathway biotransformation

5/18 Reactome Pathways for HS6ST1 (see all 18)

	MPS VI - Maroteaux-Lamy syndrome
	Metabolism
	Disease
	HS-GAG biosynthesis
	MPS II - Hunter syndrome

1 Kegg Pathway (Kegg details for HS6ST1):

Glycosaminoglycan biosynthesis - heparan sulfate

HS6ST1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for HS6ST1

STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

5/18 Interacting proteins for HS6ST1 (ENSP00000259241⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 18)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GLCE	ENSP00000261858⁴	STRING: ENSP00000261858
GPC1	ENSP00000264039⁴	STRING: ENSP00000264039
GPC2	ENSP00000292377⁴	STRING: ENSP00000292377
GPC3	ENSP00000359854⁴	STRING: ENSP00000359854
GPC4	ENSP00000359864⁴	STRING: ENSP00000359864

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001525	angiogenesis	IEA	--
GO:0005975	carbohydrate metabolic process	TAS	--
GO:0006024	glycosaminoglycan biosynthetic process	TAS	--
GO:0015012	heparan sulfate proteoglycan biosynthetic process	--	--
GO:0015015	heparan sulfate proteoglycan biosynthetic process, enzymatic modification	TAS	9535912

HS6ST1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

HS6ST1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HS6ST1

1 HMDB Compound for HS6ST1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Phosphoadenosine phosphosulfate	3'-Phospho-5'-adenylyl sulfate (see all 9)	482-67-7	--

2 Novoseek chemical compound relationships for HS6ST1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
heparan sulfate	82.7	18	9535912 (2), 14660620 (1), 16966419 (1), 17113869 (1) (see all 8)
sulfate	52	3	9535912 (1), 12492399 (1)

Search CenterWatch for drugs/clinical trials and news about HS6ST1 / H6ST1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for HS6ST1 gene:

NM_004807.2

Unigene Cluster for HS6ST1:

Heparan sulfate 6-O-sulfotransferase 1

Hs.512841 [show with all ESTs]

Unigene Representative Sequence: NM_004807

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000469019 ENST00000259241(uc002tpt.4) ENST00000463963 ENST00000494089

miRNA Products:		OriGene 3'-UTR Clone: HS6ST1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HS6ST1
		8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate HS6ST1 (see all 34):
		hsa-miR-4305 hsa-miR-486-3p hsa-miR-629 hsa-miR-181b hsa-miR-1298 hsa-miR-320d hsa-miR-181a hsa-miR-587

		SwitchGear 3'UTR luciferase reporter plasmid: HS6ST1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HS6ST1 (see all 7) OriGene shRNA RFP: HS6ST1 Browse OriGene siRNA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HS6ST1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HS6ST1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HS6ST1 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: HS6ST1 (NM_004807)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for HS6ST1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HS6ST1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HS6ST1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat HS6ST1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HS6ST1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HS6ST1

Additional cDNA sequence:

AB006179.1 AK058121.1 AK293724.1 AK295898.1 AL831893.1 BC001196.1 BC019025.1 BC047087.1

BC063521.1 BC096239.1 BC096240.1 BC099638.3 BC099639.1

9 DOTS entries:

DT.212399 DT.121451695 DT.121451692 DT.92451920 DT.120979777 DT.75103529 DT.92451921 DT.95248261

DT.121451687

24/158 AceView cDNA sequences (see all 158):

BC001196 AA340400 AI868008 AW615512 T33318 AI253259 BM810546 BE312744

AI139259 BX505559 BG677487 BE394146 BU169237 AA385429 BQ643648 BG818804

BQ670826 CA435227 AW295624 BF205949 AU131242 BF513420 CD619348 AW026798

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

HS6ST1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGCTTCCTGG

About this image

HS6ST1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Gut Tube

Midgut

Midgut Endoderm Cells

Endoderm

Limb

Zeugopod

Mesenchymal Condensate Cells

Bone, Cartilage

Neural Tube

Spinal Neural Tube Cells

Neural Ectoderm

Bone

Brain

Eye

Gut Tube

Limb

Lower Urinary Tract

Presumptive Spinal Cord

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

See HS6ST1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HS6ST1

SOURCE GeneReport for Unigene cluster: Hs.512841

UniProtKB/Swiss-Prot: H6ST1_HUMAN, O60243

Tissue specificity: Expressed in fetal brain

SABiosciences Custom PCR Arrays for HS6ST1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HS6ST1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat HS6ST1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HS6ST1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HS6ST1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HS6ST1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for HS6ST1 gene from 6/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	HS6ST1¹	heparan sulfate 6-O-sulfotransferase 1	85.04(n) 90.27(a)		395141 NM_204482.1 NP_989813.1
lizard (Anolis carolinensis)	Reptilia	HS6ST1⁶	--	85(a)	1 ↔ 1	3(36516604-36771113)
African clawed frog (Xenopus laevis)	Amphibia	AB054535.1²	--	80.37(n)		AB054535.1
zebrafish (Danio rerio)	Actinopterygii	hs6st1a¹	heparan sulfate 6-O-sulfotransferase 1a	75.17(n) 81.25(a)		553162 NM_001020508.2 NP_001018344.2
fruit fly (Drosophila melanogaster)	Insecta	Hs6st¹	Heparan sulfate 6-O-sulfotransferase	63.62(n) 55.59(a)		42380 NM_079685.2 NP_524409.2
worm (Caenorhabditis elegans)	Secernentea	hst-6⁶	Heparan SulphoTransferase family member (hst-6)	39(a)	1 → many	X(5275535-5278485)

ENSEMBL Gene Tree for HS6ST1 (if available)
TreeFam Gene Tree for HS6ST1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for HS6ST1 gene

HS6ST3² HS6ST2²

2 SIMAP similar genes for HS6ST1 using alignment to 1 protein entry: H6ST1_HUMAN:

HS6ST3 HS6ST2

HS6ST1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs10189872^1,2	C,F,H,	--	129022575(+)	`AGACAC/TGAGCT`	1	--	ds500¹		10		NS EA WA NA CSA	774
rs147771227^1,2		--	129022642(+)	`AAAAGC/TGCGCG`	1	--	ds500¹		0	--	--	--	--
rs189064046^1,2		--	129022682(+)	`AGGATA/TAGAGA`	1	--	ds500¹		0	--	--	--	--
rs141273192^1,2		--	129022752(+)	`TGTCAC/TTTGAA`	1	--	ds500¹		0	--	--	--	--
rs61286175^1,2	C,	--	129022779(+)	`AAAGAC/AAGGGA`	1	--	ds500¹		4		WA CSA	123
rs60426048^1,2	C,	--	129022813(+)	`ACTCAG/CTGGCA`	1	--	ds500¹		4		WA CSA	123
rs146952780^1,2		--	129022888(+)	`CTCTTC/TATGGT`	1	--	ds500¹		0	--	--	--	--
rs34800061^1,2	C,F,	--	129022965(+)	`TGCACC/TTGTGC`	1	--	ds500¹		10		NA WA CSA	253
rs116183826^1,2	F,	--	129022982(+)	`CCCCGC/TCCTTG`	1	--	ds500¹		1		WA	118
rs112125622^1,2		--	129023028(+)	`ATGCCC/TGCAGA`	1	--	ds500¹		2		CSA WA	120

HapMap Linkage Disequilibrium report for HS6ST1 (128994290 - 129076171 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for HS6ST1
1 CNV: 4305
Human Gene Mutation Database (HGMD): HS6ST1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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HS6ST1 for disorders           About GeneDecksing

OMIM gene information: 604846    OMIM disorders: --

3 diseases for HS6ST1:    About MalaCards

klinefelter's syndrome hypogonadism neuronitis

Human Genome Epidemiology (HuGE) Navigator: HS6ST1 (1 document)

Export disorders for HS6ST1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for HS6ST1 gene, integrated from 9 sources (see all 16):
(articles sorted by number of sources associating them with HS6ST1)

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Molecular characterization and expression of heparan-sulfate 6- sulfotransferase. (PubMed id 9535912)^{1, 2, 3, 9} Habuchi H.... Kimata K. (1998)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)^{1, 2} Hillier L.W....Wilson R.K. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Biosynthesis of heparan sulphate with diverse structures and functions: two alternatively spliced forms of human heparan sulphate 6-O-sulphotransferase-2 having different expression patterns and properties. (PubMed id 12492399)^{1, 9} Habuchi H.... Kimata K. (2003)
Heparan sulfate 6-O-sulfotransferase 1, a gene involv ed in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. (PubMed id 21700882)¹ Tornberg J....BA1low H.E. (2011)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)¹ Suzuki Y.... Sugano S. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
The occurrence of three isoforms of heparan sulfate 6-O-sulfotransferase having different specificities for hexuronic acid adjacent to the targeted N-sulfoglucosamine. (PubMed id 10644753)⁹ Habuchi H....Kimata K. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 9394	HGNC: 5201	AceView: HS6ST1	Ensembl:ENSG00000136720	euGenes: HUgn9394
ECgene: HS6ST1	Kegg: 9394	H-InvDB: HS6ST1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for HS6ST1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for HS6ST1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for HS6ST1 gene:
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heparan sulfate 6-O-sulfotransferase 1

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heparan sulfate 6-O-sulfotransferase 1

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