Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9394
Gene name Gene Name - the full gene name approved by the HGNC.
Heparan sulfate 6-O-sulfotransferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HS6ST1
Synonyms (NCBI Gene) Gene synonyms aliases
HH15, HS6ST
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q14.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biological a
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs199538589 G>A Conflicting-interpretations-of-pathogenicity, benign Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT040365 hsa-miR-615-3p CLASH 23622248
MIRT574241 hsa-miR-5692a PAR-CLIP 20371350
MIRT574239 hsa-miR-3185 PAR-CLIP 20371350
MIRT574240 hsa-miR-3653-3p PAR-CLIP 20371350
MIRT574238 hsa-miR-3658 PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0001525 Process Angiogenesis IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005794 Component Golgi apparatus IEA
GO:0005794 Component Golgi apparatus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604846 5201 ENSG00000136720
Protein
UniProt ID O60243
Protein name Heparan-sulfate 6-O-sulfotransferase 1 (HS6ST-1) (EC 2.8.2.-)
Protein 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. Critical for normal neuronal development where it may play
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03567 Sulfotransfer_2 79 351 Sulfotransferase family Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in fetal brain. {ECO:0000269|PubMed:9535912}.
Sequence
Sequence length 411
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycosaminoglycan biosynthesis - heparan sulfate / heparin   HS-GAG biosynthesis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hypogonadotropic Hypogonadism hypogonadotropic hypogonadism N/A N/A GenCC
Hypogonadotropic Hypogonadism With Or Without Anosmia Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 15 with anosmia, hypogonadotropic hypogonadism 15 with or without anosmia N/A N/A ClinVar
Kallmann Syndrome Kallmann syndrome N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Atherosclerosis Associate 37686257
Cerebral Infarction Associate 37686257
Combined Pituitary Hormone Deficiency Associate 35805171
Embolic Stroke Associate 37686257
Glioma Associate 29104277
Hypogonadism Associate 35669683, 35805171, 38096238
Idiopathic Pulmonary Fibrosis Associate 23962103
Kallmann Syndrome Associate 23533228
Microphthalmia Isolated 1 Associate 26207952
Neoplasm Metastasis Associate 29940912