HS2ST1
entrez
9653
canonical
uniprot
Q7LGA3
canonical
ensembl
ENSG00000153936
resolver
ensembl
ENSG00000267561
resolver
ensp
ENSP00000359581
resolver
ensp
ENSP00000359582
resolver
genesymbol
HS2ST1
resolver
genesymbol_syn
HS2ST
resolver
genesymbol_syn
KIAA0448
resolver
hgnc
HGNC:5193
resolver
uniprot
D3DT22
resolver
uniprot
O75036
resolver
uniprot
Q32NB5
resolver
uniprot
Q8TAC5
resolver
uniprot
Q9H441
resolver
uniprot
Q9NUJ9
resolver
uniprot_entry
HS2ST_HUMAN
resolver
uniprot_sec
D3DT22
resolver
uniprot_sec
O75036
resolver
uniprot_sec
Q32NB5
resolver
uniprot_sec
Q8TAC5
resolver
uniprot_sec
Q9H441
resolver
uniprot_sec
Q9NUJ9
resolver
amino_acid_sequence
MGLLRIMMPPKLQLLAVVAFAVAMLFLENQIQKLEESRSKLERAIARHEVREIEQRHTMDGPRQDATLDEEEDMVIIYNRVPKTASTSFTNIAYDLCAKNKYHVLHINTTKNNPVMSLQDQVRFVKNITSWKEMKPGFYHGHVSYLDFAKFGVKKKPIYINVIRDPIERLVSYYYFLRFGDDYRPGLRRRKQGDKKTFDECVAEGGSDCAPEKLWLQIPFFCGHSSECWNVGSRWAMDQAKYNLINEYFLVGVTEELEDFIMLLEAALPRFFRGATELYRTGKKSHLRKTTEKKLPTKQTIAKLQQSDIWKMENEFYEFALEQFQFIRAHAVREKDGDLYILAQNFFYEKIYPKSN
uniprot
proteins
disease_involvement
DISEASE: Neurofacioskeletal syndrome with or without renal agenesis (NFSRA) [MIM:619194]: An autosomal recessive syndrome characterized by developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, flexion contractures, brachydactyly of hands and feet with broad fingertips and toes, and dysmorphic features such as coarse face, upslanted palpebral fissures, broad nasal tip and wide mouth. Some patients manifest unilateral or bilateral renal agenesis. {ECO:0000269|PubMed:33159882}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.8.2.-
uniprot
proteins
function
FUNCTION: Catalyzes the transfer of a sulfo group from 3'-phospho-5'-adenylyl sulfate (PAPS) to the 2-OH position of iduronic acid (IdoA) or glucuronic acid (GlcA) within the heparan sulfate (HS) chain and participates in HS biosynthesis (By similarity). Required for metanephric development of kidney formation, suggesting that 2-O-sulfation within HS is essential for signaling between ureteric bud and metanephric mesenchyme (By similarity). {ECO:0000250|UniProtKB:Q76KB1, ECO:0000250|UniProtKB:Q8R3H7}.
uniprot
proteins
mass_dalton
41881
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000250|UniProtKB:O08889}.
uniprot
proteins
protein_family
Sulfotransferase 3 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
33159882
uniprot
proteins
pubmed
9455484
uniprot
proteins
sequence_length
356
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250|UniProtKB:Q8R3H7}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:Q8R3H7}.
uniprot
proteins
transmembrane_region
TRANSMEM 12..28; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins