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

Gene ID: 9953, updated on 9-Jan-2019

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
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

Genomic context

See HS3ST3B1 in Genome Data Viewer
Location:
17p12
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (14301050..14349406)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (14204367..14252721)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 Neighboring gene distal CMT1A-REP Neighboring gene CMT1A duplicated region transcript 15 Neighboring gene uncharacterized protein MGC12916 Neighboring gene uncharacterized LOC107985080 Neighboring gene uncharacterized LOC107984996

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Glycosaminoglycan biosynthesis - heparan sulfate / heparin, organism-specific biosystem (from KEGG)
    Glycosaminoglycan biosynthesis - heparan sulfate / heparin, organism-specific biosystemHeparan sulfate (HS) and heparin (Hep) are glycosaminoglycans with repeating disaccharide units that consist of alternating residues of alpha-D-glucosamine (GlcN) and uronic acid, the latter being ei...
  • Glycosaminoglycan biosynthesis - heparan sulfate / heparin, conserved biosystem (from KEGG)
    Glycosaminoglycan biosynthesis - heparan sulfate / heparin, conserved biosystemHeparan sulfate (HS) and heparin (Hep) are glycosaminoglycans with repeating disaccharide units that consist of alternating residues of alpha-D-glucosamine (GlcN) and uronic acid, the latter being ei...
  • Glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
    Glycosaminoglycan metabolism, organism-specific biosystemGlycosaminoglycans (GAGs) are long, unbranched polysaccharides containing a repeating disaccharide unit composed of a hexosamine (either N-acetylgalactosamine (GalNAc) or N-acetylglucosamine (GlcNAc)...
  • HS-GAG biosynthesis, organism-specific biosystem (from REACTOME)
    HS-GAG biosynthesis, organism-specific biosystemHeparan sulfate (HS) and heparin (sometimes collectively called HS-GAG) consist of the disaccharide unit GlcNAc-GlcA (N-acetylglucosamine-glucuronic acid) connected by a beta1,4 linkage. Heparin is e...
  • Heparan sulfate/heparin (HS-GAG) metabolism, organism-specific biosystem (from REACTOME)
    Heparan sulfate/heparin (HS-GAG) metabolism, organism-specific biosystemThe acronym HS-GAG is used to describe both heparin and heparan sulfate. HS-GAG is a member of the glycosaminoglycan family and consists of a variably sulfated repeating disaccharide unit, the most ...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Metapathway biotransformation, organism-specific biosystem (from WikiPathways)
    Metapathway biotransformation, organism-specific biosystem
    Metapathway biotransformation
  • heparan sulfate biosynthesis, organism-specific biosystem (from BIOCYC)
    heparan sulfate biosynthesis, organism-specific biosystem
    heparan sulfate biosynthesis
  • heparan sulfate biosynthesis, conserved biosystem (from BIOCYC)
    heparan sulfate biosynthesis, conserved biosystemBackground |FRAME: Heparan-Sulfate "Heparan sulfate"| is a linear polysaccharide found in all animal tissues. It occurs as a proteoglycan in which two or three heparan sulfate chains are attached to...
  • heparan sulfate biosynthesis (late stages), organism-specific biosystem (from BIOCYC)
    heparan sulfate biosynthesis (late stages), organism-specific biosystemBackground : Heparan-Sulfate "Heparan sulfate" is a linear polysaccharide found in all animal tissues. It occurs as a proteoglycan in which two or three heparan sulfate chains are attached to cell s...
  • heparan sulfate biosynthesis (late stages), conserved biosystem (from BIOCYC)
    heparan sulfate biosynthesis (late stages), conserved biosystemBackground |FRAME: Heparan-Sulfate "Heparan sulfate"| is a linear polysaccharide found in all animal tissues. It occurs as a proteoglycan in which two or three heparan sulfate chains are attached to...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity TAS
Traceable Author Statement
more info
 
[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity IEA
Inferred from Electronic Annotation
more info
 
heparan sulfate sulfotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
glycosaminoglycan biosynthetic process TAS
Traceable Author Statement
more info
 
heparan sulfate proteoglycan biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heparan sulfate proteoglycan biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
heparan sulfate proteoglycan biosynthetic process, enzymatic modification TAS
Traceable Author Statement
more info
PubMed 
protein sulfation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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
XP_016880968.1

NCBI Reference Sequences (RefSeq)

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)

  1. NM_006041.3NP_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
    Q9Y662
    Related
    ENSP00000354213.2, ENST00000360954.2
    Conserved Domains (1) summary
    pfam00685
    Location:137374
    Sulfotransfer_1; Sulfotransferase domain

RNA

  1. NR_130138.1 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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    14301050..14349406
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025479.2XP_016880968.1  heparan sulfate glucosamine 3-O-sulfotransferase 3B1 isoform X1

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