Gene Gene information from NCBI Gene database.
Entrez ID 9953
Gene name Heparan sulfate-glucosamine 3-sulfotransferase 3B1
Gene symbol HS3ST3B1
Synonyms (NCBI Gene)
3-OST-3B3OST3B1h3-OST-3B
Chromosome 17
Chromosome location 17p12
Summary The protein encoded by this gene is a type II integral membrane protein that belongs to the 3-O-sulfotransferases family. These proteins catalyze the addition of sulfate groups at the 3-OH position of glucosamine in heparan sulfate. The substrate specific
miRNA miRNA information provided by mirtarbase database.
108
miRTarBase ID miRNA Experiments Reference
MIRT026649 hsa-miR-192-5p Microarray 19074876
MIRT030947 hsa-miR-21-5p Sequencing 20371350
MIRT657278 hsa-miR-627-3p HITS-CLIP 23824327
MIRT657277 hsa-miR-548ao-5p HITS-CLIP 23824327
MIRT657276 hsa-miR-548ax HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0001658 Process Branching involved in ureteric bud morphogenesis IEA
GO:0005794 Component Golgi apparatus IEA
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604058 5198 ENSG00000125430
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y662
Protein name Heparan sulfate glucosamine 3-O-sulfotransferase 3B1 (EC 2.8.2.30) (Heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3B1) (3-OST-3B) (Heparan sulfate 3-O-sulfotransferase 3B1) (h3-OST-3B)
Protein function Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate (PubMed:10520990, PubMed:9988768). Catal
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00685 Sulfotransfer_1 137 384 Sulfotransferase domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Most abundant in liver and placenta, followed by heart and kidney. {ECO:0000269|PubMed:9988767}.
Sequence
Sequence length 390
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.).
8
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
CHRONIC KIDNEY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FUCHS ENDOTHELIAL CORNEAL DYSTROPHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FUCHS' ENDOTHELIAL DYSTROPHY GWAS catalog
★★☆☆☆
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
Bladder Neoplasm Bladder Neoplasm BEFREE 30984249
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 30360368
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 12819009 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 30984249
★☆☆☆☆
Found in Text Mining only
Endometrioma Endometrioma CTD_human_DG 20864642
★☆☆☆☆
Found in Text Mining only
Endometriosis Endometriosis CTD_human_DG 20864642
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatitis B Hepatitis b Pubtator 20705311 Inhibit
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Myeloid leukemia Pubtator 36246561 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia BEFREE 25536282
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 30360368
★☆☆☆☆
Found in Text Mining only