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HS6ST1 heparan sulfate 6-O-sulfotransferase 1 [ Homo sapiens (human) ]

Gene ID: 9394, updated on 11-Sep-2019

Summary

Official Symbol
HS6ST1provided by HGNC
Official Full Name
heparan sulfate 6-O-sulfotransferase 1provided by HGNC
Primary source
HGNC:HGNC:5201
See related
Ensembl:ENSG00000136720 MIM:604846
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
HH15; HS6ST
Summary
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 activities. This enzyme is a type II integral membrane protein and is responsible for 6-O-sulfation of heparan sulfate. This enzyme does not share significant sequence similarity with other known sulfotransferases. A pseudogene located on chromosome 1 has been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in kidney (RPKM 27.2), testis (RPKM 16.9) and 25 other tissues See more
Orthologs

Genomic context

See HS6ST1 in Genome Data Viewer
Location:
2q14.3
Exon count:
2
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (128265480..128318868, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (129023054..129076171, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L14 pseudogene Neighboring gene ribosomal protein L21 pseudogene 34 Neighboring gene uncharacterized LOC105373610 Neighboring gene uncharacterized LOC105373611 Neighboring gene RNA, 5S ribosomal pseudogene 103

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 Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
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

Clone Names

  • FLJ25392, MGC116899, MGC116901, DKFZp547H098

Gene Ontology Provided by GOA

Function Evidence Code Pubs
heparan sulfate 6-O-sulfotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sulfotransferase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
glycosaminoglycan biosynthetic process TAS
Traceable Author Statement
more info
 
heparan sulfate proteoglycan biosynthetic process, enzymatic modification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
labyrinthine layer blood vessel development IEA
Inferred from Electronic Annotation
more info
 
lung alveolus development IEA
Inferred from Electronic Annotation
more info
 
neuron development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
heparan-sulfate 6-O-sulfotransferase 1
Names
HS6ST-1
heparan-sulfate 6-sulfotransferase
NP_004798.3

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.

Genomic

  1. NG_032966.1 RefSeqGene

    Range
    4730..58118
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004807.3NP_004798.3  heparan-sulfate 6-O-sulfotransferase 1

    See identical proteins and their annotated locations for NP_004798.3

    Status: REVIEWED

    Source sequence(s)
    AC017079, BC001196, BC063521, BP219645, CV569969, DR005030
    Consensus CDS
    CCDS42748.1
    UniProtKB/Swiss-Prot
    O60243
    Related
    ENSP00000259241.6, ENST00000259241.7
    Conserved Domains (1) summary
    pfam03567
    Location:85350
    Sulfotransfer_2; Sulfotransferase family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    128265480..128318868 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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