Gene Gene information from NCBI Gene database.
Entrez ID 9957
Gene name Heparan sulfate-glucosamine 3-sulfotransferase 1
Gene symbol HS3ST1
Synonyms (NCBI Gene)
3OST3OST1
Chromosome 4
Chromosome location 4p15.33
Summary Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs16881446 T>C Risk-factor Intron variant
miRNA miRNA information provided by mirtarbase database.
446
miRTarBase ID miRNA Experiments Reference
MIRT715339 hsa-miR-6801-3p HITS-CLIP 19536157
MIRT715338 hsa-miR-6810-3p HITS-CLIP 19536157
MIRT627148 hsa-miR-6075 HITS-CLIP 19536157
MIRT715337 hsa-miR-4772-3p HITS-CLIP 19536157
MIRT715336 hsa-miR-4313 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005794 Component Golgi apparatus IEA
GO:0005794 Component Golgi apparatus IEA
GO:0005796 Component Golgi lumen IEA
GO:0005796 Component Golgi lumen TAS 9346953
GO:0006024 Process Glycosaminoglycan biosynthetic process IDA 8900198, 9988768
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603244 5194 ENSG00000002587
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14792
Protein name Heparan sulfate glucosamine 3-O-sulfotransferase 1 (EC 2.8.2.23) (Heparan sulfate D-glucosaminyl 3-O-sulfotransferase 1) (3-OST-1) (Heparan sulfate 3-O-sulfotransferase 1) (h3-OST-1)
Protein function Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to position 3 of glucosamine residues in heparan (PubMed:8900198, PubMed:9346953, PubMed:9988768). Catalyzes the rate limiting step in
PDB 1ZRH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00685 Sulfotransfer_1 54 298 Sulfotransferase domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in the brain and kidney and weakly expressed in the heart, lung and placenta. {ECO:0000269|PubMed:9988767}.
Sequence
Sequence length 307
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycosaminoglycan biosynthesis - heparan sulfate / heparin   HS-GAG biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTERIOSCLEROSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arteriosclerosis disorder risk factor ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 33419465, 33627629 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arteriosclerosis Arteriosclerosis CLINVAR_DG 15266341
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arteriosclerosis Arteriosclerosis BEFREE 28126521
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atherosclerosis Atherosclerosis BEFREE 28126521
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 33419465 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 35909476 Associate
★☆☆☆☆
Found in Text Mining only
Chondrosarcoma Chondrosarcoma BEFREE 19812376
★☆☆☆☆
Found in Text Mining only
Chondrosarcoma Chondrosarcoma Pubtator 19812376 Associate
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease CLINVAR_DG 15266341
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Endometriosis Endometriosis Pubtator 37555920 Associate
★☆☆☆☆
Found in Text Mining only