HS6ST1 heparan sulfate 6-O-sulfotransferase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HS6ST1provided by HGNC
Official Full Name: heparan sulfate 6-O-sulfotransferase 1provided by HGNC
Primary source: HGNC:HGNC:5201
See related: Ensembl:ENSG00000136720 MIM:604846; AllianceGenome:HGNC:5201
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HH15; HS6ST
Summary: 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]
Expression: Ubiquitous expression in kidney (RPKM 27.2), testis (RPKM 16.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q14.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (128265480..128318868, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (128701428..128754817, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (129023054..129076442, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HS6ST1 overexpressed in cancer-associated fibroblast and inhibited cholangiocarcinoma progression.
Title: HS6ST1 overexpressed in cancer-associated fibroblast and inhibited cholangiocarcinoma progression.
We have linked a deleterious mutation in HS6ST1 to familial self-limited delayed puberty and show that heterozygous Hs6st1 loss causes delayed puberty in mice. In this study, the observed overlap in potentially pathogenic mutations contributing to the phenotypes of self-limited delayed puberty and hypogonadotropic hypogonadism was limited to this one gene.
Title: HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes.
RT-PCR analysis showed that the overall transcriptional activity of the main Heparan Sulfate biosynthesis-involved genes (EXT1, EXT2, NDST1, NDST2, GLCE, HS2ST1, HS3ST1, HS3ST2, HS6ST1, HS6ST2, SULF1, SULF2, HPSE) was decreased by 1.5-2-fold in Grade II-III glioma.
Title: Heparan Sulfate Biosynthetic System Is Inhibited in Human Glioma Due to EXT1/2 and HS6ST1/2 Down-Regulation.
HS6ST-1 and HS6ST-2 have roles in regulating the angiogenic program in ovarian cancer cells affecting HB-EGF signaling and subsequent expression of angiogenic cytokines by cancer cells
Title: Ovarian cancer cell heparan sulfate 6-O-sulfotransferases regulate an angiogenic program induced by heparin-binding epidermal growth factor (EGF)-like growth factor/EGF receptor signaling.
Hs6st1 and Hs2st generate conditions conducive to corpus callosum development.
Title: Heparan sulfotransferases Hs6st1 and Hs2st keep Erk in check for mouse corpus callosum development.
idiopathic hypogonadotrophic hypogonadism--associated HS6ST1 mutations display reduced activity in vitro and in vivo, suggesting that HS6ST1 and the complex modifications of extracellular sugars are critical for normal development
Title: Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
we have characterized HS6ST-2 and HS6ST-1 human isologues, including their chromosomal localizations,HS6STs could also transfer sulphate to N -sulphoglucosamine residues located at the non-reducing terminal of HS with high affinity.
Title: 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.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hypogonadotropic hypogonadism 15 with or without anosmia MedGen: C3553977 OMIM: 614880 GeneReviews: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-145341 (e-PCR)
- UniSTS:183333

IB2493 (e-PCR)
- UniSTS:4443

RH78052 (e-PCR)
- UniSTS:89719

NoName (e-PCR)
- UniSTS:482962

RH76508 (e-PCR)
- UniSTS:90770

Clone Names

FLJ25392, MGC116899, MGC116901, DKFZp547H098

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables heparan sulfate 6-O-sulfotransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables heparan sulfate 6-O-sulfotransferase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sulfotransferase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in heparan sulfate proteoglycan biosynthetic process, enzymatic modification	IBA Inferred from Biological aspect of Ancestor more info
involved_in heparan sulfate proteoglycan biosynthetic process, enzymatic modification	TAS Traceable Author Statement more info
involved_in labyrinthine layer blood vessel development	IEA Inferred from Electronic Annotation more info
involved_in lung alveolus development	IEA Inferred from Electronic Annotation more info
involved_in neuron development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: heparan-sulfate 6-O-sulfotransferase 1

Names: HS6ST-1; heparan-sulfate 6-sulfotransferase

NP_004798.3

EC 2.8.2.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.