InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HS6ST1

Summary

InnateDB Protein

IDBP-69525.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HS6ST1

Protein Name

heparan sulfate 6-O-sulfotransferase 1

Synonyms

HH15; HS6ST;

Species

Homo sapiens

Ensembl Protein

ENSP00000259241

InnateDB Gene

IDBG-69523 (HS6ST1)

Protein Structure

UniProt Annotation

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. Critical for normal neuronal development where it may play a role in neuron branching. May also play a role in limb development. May prefer iduronic acid. {ECO:0000269PubMed:21700882}.

Subcellular Localization

Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.

Disease Associations

Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880]: 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). {ECO:0000269PubMed:21700882}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.

Tissue Specificity

Expressed in fetal brain. {ECO:0000269PubMed:9535912}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0008146	sulfotransferase activity
GO:0017095	heparan sulfate 6-O-sulfotransferase activity

Biological Process

GO:0001525	angiogenesis
GO:0005975	carbohydrate metabolic process
GO:0006024	glycosaminoglycan biosynthetic process
GO:0015012	heparan sulfate proteoglycan biosynthetic process
GO:0015015	heparan sulfate proteoglycan biosynthetic process, enzymatic modification
GO:0030203	glycosaminoglycan metabolic process
GO:0044281	small molecule metabolic process
GO:0048286	lung alveolus development
GO:0048666	neuron development
GO:0060716	labyrinthine layer blood vessel development