HS6ST1
entrez
9394
canonical
uniprot
O60243
canonical
ensembl
ENSG00000136720
resolver
ensp
ENSP00000259241
resolver
genesymbol
HS6ST1
resolver
genesymbol_syn
HS6ST
resolver
hgnc
HGNC:5201
resolver
uniprot
B4DEP2
resolver
uniprot
B4DJ29
resolver
uniprot
Q53SL2
resolver
uniprot
Q9BVI1
resolver
uniprot_entry
H6ST1_HUMAN
resolver
uniprot_sec
B4DEP2
resolver
uniprot_sec
B4DJ29
resolver
uniprot_sec
Q53SL2
resolver
uniprot_sec
Q9BVI1
resolver
amino_acid_sequence
MRRRRAGGRTMVERASKFVLVVAGSVCFMLILYQYAGPGLSLGAPGGRAPPDDLDLFPTPDPHYEKKYYFPVRELERSLRFDMKGDDVIVFLHIQKTGGTTFGRHLVQNVRLEVPCDCRPGQKKCTCYRPNRRETWLFSRFSTGWSCGLHADWTELTNCVPGVLDRRDSAALRTPRKFYYITLLRDPVSRYLSEWRHVQRGATWKTSLHMCDGRTPTPEELPPCYEGTDWSGCTLQEFMDCPYNLANNRQVRMLADLSLVGCYNLSFIPEGKRAQLLLESAKKNLRGMAFFGLTEFQRKTQYLFERTFNLKFIRPFMQYNSTRAGGVEVDEDTIRRIEELNDLDMQLYDYAKDLFQQRYQYKRQLERREQRLRSREERLLHRAKEALPREDADEPGRVPTEDYMSHIIEKW
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:21700882, ECO:0000269|PubMed:25077900}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry.
uniprot
proteins
ec_number
2.8.2.-
uniprot
proteins
function
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 (PubMed:9535912, PubMed:21700882). Critical for normal neuronal development where it may play a role in neuron branching (PubMed:21700882). May also play a role in limb development (By similarity). May prefer iduronic acid (By similarity). {ECO:0000250|UniProtKB:Q76KB2, ECO:0000250|UniProtKB:Q9QYK5, ECO:0000269|PubMed:21700882, ECO:0000269|PubMed:9535912}.
uniprot
proteins
mass_dalton
48226
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000250|UniProtKB:Q91ZB4}.
uniprot
proteins
protein_family
Sulfotransferase 6 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
21700882
uniprot
proteins
pubmed
25077900
uniprot
proteins
pubmed
9535912
uniprot
proteins
sequence_length
411
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 18..37; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins