HS3ST3B1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HS3ST3B1provided by HGNC
Official Full Name: heparan sulfate-glucosamine 3-sulfotransferase 3B1provided by HGNC
Primary source: HGNC:HGNC:5198
See related: Ensembl:ENSG00000125430 MIM:604058; AllianceGenome:HGNC:5198
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: 3OST3B1; 3-OST-3B; h3-OST-3B
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 specificity of individual members of the family is based on prior modification of the heparan sulfate chain, thus allowing different members of the family to generate binding sites for different proteins on the same heparan sulfate chain. Following treatment with a histone deacetylase inhibitor, expression of this gene is activated in a pancreatic cell line. The increased expression results in promotion of the epithelial-mesenchymal transition. In addition, the modification catalyzed by this protein allows herpes simplex virus membrane fusion and penetration. A very closely related homolog with an almost identical sulfotransferase domain maps less than 1 Mb away. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Expression: Broad expression in liver (RPKM 6.8), lymph node (RPKM 3.1) and 21 other tissues See more
Orthologs: all
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Genomic context

Location:: 17p12

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (14301081..14349404)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (14207195..14255584)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (14204398..14252721)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The SNP rs28470223 results in decreased promoter activity of HS3ST3A1 and slightly higher HS3ST3A1 catalytic activity in vitro.
Title: Genetic and enzymatic characterization of 3-O-sulfotransferase SNPs associated with Plasmodium falciparum parasitaemia.
These findings indicate that HS3ST3B1 is a novel regulator of TGF-beta-mediated EMT and is regulated by miR-218 in NSCLC.
Title: Heparan sulfate D-glucosamine 3-O-sulfotransferase 3B1 is a novel regulator of transforming growth factor-beta-mediated epithelial-to-mesenchymal transition and regulated by miR-218 in nonsmall cell lung cancer.
A genome-wide high-throughput siRNA screen revealed that KIR2DL4 recognition of cell-surface ligand(s) is directly regulated by heparan sulfate glucosamine 3-O-sulfotransferase 3B1 (HS3ST3B1).
Title: Genome-wide siRNA screen reveals a new cellular partner of NK cell receptor KIR2DL4: heparan sulfate directly modulates KIR2DL4-mediated responses.
Genetic variants of HS3ST3A1 and HS3ST3B1 are associated with Plasmodium falciparum parasitaemia.
Title: Genetic variations in genes involved in heparan sulphate biosynthesis are associated with Plasmodium falciparum parasitaemia: a familial study in Burkina Faso.
the results from this study unveiled a distinct function for 3-OST-3B1 as an Epithelial-mesenchymal transition inducer in cancer and provided a link between histone modification and Epithelial-mesenchymal transition modulation.
Title: Heparan sulfate D-glucosaminyl 3-O-sulfotransferase-3B1, a novel epithelial-mesenchymal transition inducer in pancreatic cancer.
HS3ST3B1 showed potent inhibitory effect on HBV replication.
Title: Heparin sulphate D-glucosaminyl 3-O-sulfotransferase 3B1 plays a role in HBV replication.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Analysis of copy number variation in 8,842 Korean individuals reveals 39 genes associated with hepatic biomarkers AST and ALT.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs). EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-83228 (e-PCR)
- UniSTS:95799

WI-12681 (e-PCR)
- UniSTS:42148

STS-W95041 (e-PCR)
- UniSTS:69805

STS-H63634 (e-PCR)
- UniSTS:22229

L29896 (e-PCR)
- UniSTS:37094

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	IBA Inferred from Biological aspect of Ancestor more info
enables [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	IDA Inferred from Direct Assay more info	PubMed
enables [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	TAS Traceable Author Statement more info
enables [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in branching involved in ureteric bud morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in glycosaminoglycan biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in heparan sulfate proteoglycan biosynthetic process	TAS Traceable Author Statement more info	PubMed
involved_in heparan sulfate proteoglycan biosynthetic process, enzymatic modification	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: heparan sulfate glucosamine 3-O-sulfotransferase 3B1

Names: heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1; heparan sulfate 3-O-sulfotransferase 3B1; heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3B1

NP_006032.1

EC 2.8.2.30

XP_016880968.1

EC 2.8.2.30

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_006041.3 → NP_006032.1 heparan sulfate glucosamine 3-O-sulfotransferase 3B1

See identical proteins and their annotated locations for NP_006032.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. It encodes the protein.

Source sequence(s)

AC005224, AK023723, BC063301, BM968044, DA388077

Consensus CDS

CCDS11167.1

UniProtKB/Swiss-Prot

B3KN58, D3DTS6, Q9Y662

Related

ENSP00000354213.2, ENST00000360954.3

Conserved Domains (1) summary

pfam00685
Location:137 → 374

Sulfotransfer_1; Sulfotransferase domain

RNA

NR_130138.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate 3' exon structure compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC005224, AC022816, AK023723, BC063301, BM968044, DA388077