Entity Details

Primary name H6ST1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO60243
EntryNameH6ST1_HUMAN
FullNameHeparan-sulfate 6-O-sulfotransferase 1
TaxID9606
Evidenceevidence at protein level
Length411
SequenceStatuscomplete
DateCreated2005-10-11
DateModified2021-06-02

Ontological Relatives

GenesHS6ST1

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0005887 integral component of plasma membrane
GO:0006024 glycosaminoglycan biosynthetic process
GO:0008146 sulfotransferase activity
GO:0015015 heparan sulfate proteoglycan biosynthetic process, enzymatic modification
GO:0017095 heparan sulfate 6-O-sulfotransferase activity
GO:0048666 neuron development

Subcellular Location

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Subcellular Location
Membrane

Domains

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DomainNameCategoryType
IPR005331 SulfotransferaseFamilyFamily
IPR010635 Heparan sulphate 6-sulfotransferase/Protein-tyrosine sulfotransferaseFamilyFamily
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
614880 OMIMHypogonadotropic hypogonadism 15 with or without anosmia (HH15)A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
H6ST1_HUMANKR108_HUMANBioGRID, IntAct32296183 details
H6ST1_HUMANK1H1_HUMANBioGRID, IntAct32296183 details
H6ST1_HUMANOPRM_HUMANBioGRID, MINT28298427 details