Hs6st1 heparan sulfate 6-O-sulfotransferase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hs6st1provided by MGI
Official Full Name: heparan sulfate 6-O-sulfotransferase 1provided by MGI
Primary source: MGI:MGI:1354958
See related: Ensembl:ENSMUSG00000045216 AllianceGenome:MGI:1354958
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 6Ost1
Summary: Enables heparan sulfate 6-O-sulfotransferase activity. Involved in heparan sulfate proteoglycan biosynthetic process. Acts upstream of or within blood vessel development; heparan sulfate proteoglycan biosynthetic process, enzymatic modification; and lung alveolus development. Is active in Golgi apparatus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; limb; and sensory organ. Human ortholog(s) of this gene implicated in hypogonadotropic hypogonadism 15 with or without anosmia. Orthologous to human HS6ST1 (heparan sulfate 6-O-sulfotransferase 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in adrenal adult (RPKM 91.8), kidney adult (RPKM 52.1) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 B; 1 15.15 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (36107481..36145527)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (36068400..36106446)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Convergent biological pathways underlying the Kallmann syndrome-linked genes Hs6st1 and Fgfr1.
Title: Convergent biological pathways underlying the Kallmann syndrome-linked genes Hs6st1 and Fgfr1.
Distinct expression patterns of Sulf1 and Hs6st1 spatially regulate heparan sulfate sulfation during prostate development.
Title: Distinct expression patterns of Sulf1 and Hs6st1 spatially regulate heparan sulfate sulfation during prostate development.
both HS6ST-1 and HS6ST-2 are involved in 6-O-sulfation of heparin and that the proper packaging and storage of tryptase
Title: Heparan sulfate 6-O-sulfotransferase isoform-dependent regulatory effects of heparin on the activities of various proteases in mast cells and the biosynthesis of 6-O-sulfated heparin.
there is a critical role for HS 6-O sulfation by Hs6st1 in postnatal processes
Title: Systemic inactivation of Hs6st1 in mice is associated with late postnatal mortality without major defects in organogenesis.
Data show that high expression of 6-O-sulfotransferase (6-OST)-1, 2, or 3 resulted in increased 6-O-sulfation of N-sulfated and N-acetylated glucosamine units, and in altered heparan sulfate domain structure.
Title: Overexpression of heparan sulfate 6-O-sulfotransferases in human embryonic kidney 293 cells results in increased N-acetylglucosaminyl 6-O-sulfation.
Hs2st and/or Hs6st1 expression coincides with Slit expression domains at locations where retinal ganglion cell(RGC) axons make navigation errors in Hs2st-/- and Hs6st1-/- mutants, and Hs6st1-/-RGC axons are less sensitive to Slit2 repulsion.
Title: Heparan sulphation patterns generated by specific heparan sulfotransferase enzymes direct distinct aspects of retinal axon guidance at the optic chiasm.
6OST1 is predominantly transcribed in epithelial and neural-derived tissues during development
Title: Differential expression of heparan sulfate 6-O-sulfotransferase isoforms in the mouse embryo suggests distinctive roles during organogenesis.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Gene trapped (2) 1 citation
Targeted (3) 1 citation

General gene information

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Markers

Hs6st1 (e-PCR), detects polymorphism
- UniSTS:532549

Hs6st1 (e-PCR), detects polymorphism
- UniSTS:463453

Hs6st1 (e-PCR), detects polymorphism
- UniSTS:463454

NoName (e-PCR)
- UniSTS:234108

Hs6st1 (e-PCR), detects polymorphism
- UniSTS:532610

Gene Ontology Provided by MGI

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	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heparan sulfate proteoglycan biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within heparan sulfate proteoglycan biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heparan sulfate proteoglycan biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heparan sulfate proteoglycan biosynthetic process, enzymatic modification	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within heparan sulfate proteoglycan biosynthetic process, enzymatic modification	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within labyrinthine layer blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lung alveolus development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron development	ISO Inferred from Sequence Orthology more info
involved_in neuron development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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

Names: HS6ST-1; mHS6ST-1

NP_056633.2

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.