Gene: Hs2st1

Basic information

Tag Content
Uniprot ID Q8R3H7; O88464; Q3TNP7; Q9JLK2;
Entrez ID 23908
Genbank protein ID AAH59008.1; BAC40511.1; AAC40135.1; AAH25443.1; BAE38041.1; AAF59900.1;
Genbank nucleotide ID NM_011828.3
Ensembl protein ID ENSMUSP00000043066
Ensembl nucleotide ID ENSMUSG00000040151
Gene name Heparan sulfate 2-O-sulfotransferase 1
Gene symbol Hs2st1
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 9637690
Functional description Catalyzes the transfer of sulfate to the C2-position of selected hexuronic acid residues within the maturing heparan sulfate (HS). 2-O-sulfation within HS, particularly of iduronate residues, is essential for HS to participate in a variety of high-affinity ligand-binding interactions and signaling processes. Required for metanephric development of kidney formation, suggesting that 2-O-sulfation within HS is essential for signaling between ureteric bud and metanephric mesenchyme. Mediates 2-O-sulfation of both L-iduronyl and D-glucuronyl residues.
Sequence
MGLLRIMMPP KLQLLAVVAF AVAMLFLENQ IQKLEESRAK LERAIARHEV REIEQRHTMD 60
GPRQDATLDE EEDIIIIYNR VPKTASTSFT NIAYDLCAKN RYHVLHINTT KNNPVMSLQD 120
QVRFVKNITT WNEMKPGFYH GHISYLDFAK FGVKKKPIYI NVIRDPIERL VSYYYFLRFG 180
DDYRPGLRRR KQGDKKTFDE CVAEGGSDCA PEKLWLQIPF FCGHSSECWN VGSRWAMDQA 240
KSNLINEYFL VGVTEELEDF IMLLEAALPR FFRGATDLYR TGKKSHLRKT TEKKLPTKQT 300
IAKLQQSDIW KMENEFYEFA LEQFQFIRAH AVREKDGDLY ILAQNFFYEK IYPKSN 356

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0004394 heparan sulfate 2-O-sulfotransferase activityIMP
GO:0004394 heparan sulfate 2-O-sulfotransferase activityIBA
GO:0008146 sulfotransferase activityIBA

GO:Biological Process

GO ID GO Term Evidence
GO:0015014 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic processIMP
GO:0015014 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic processIBA
GO:0015015 heparan sulfate proteoglycan biosynthetic process, enzymatic modificationIBA
GO:0030202 heparin metabolic processIMP
GO:0060676 ureteric bud formationIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0000139 Golgi membraneIEA
GO:0016021 integral component of membraneIEA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-1430728 MetabolismIEA
R-MMU-1630316 Glycosaminoglycan metabolismIEA
R-MMU-1638091 Heparan sulfate/heparin (HS-GAG) metabolismIEA
R-MMU-2022928 HS-GAG biosynthesisIEA
R-MMU-71387 Metabolism of carbohydratesIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-1015 Disulfide bond
KW-0325 Glycoprotein
KW-0333 Golgi apparatus
KW-0472 Membrane
KW-1185 Reference proteome
KW-0735 Signal-anchor
KW-0808 Transferase
KW-0812 Transmembrane
KW-1133 Transmembrane helix

Interpro

InterPro ID InterPro Term
IPR007734 Heparan_SO4_2-O-STrfase
IPR027417 P-loop_NTPase
IPR005331 Sulfotransferase

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF03567 Sulfotransfer_2

Protein-miRNA interaction