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CHST6 carbohydrate sulfotransferase 6 [ Homo sapiens (human) ]

Gene ID: 4166, updated on 11-Sep-2019

Summary

Official Symbol
CHST6provided by HGNC
Official Full Name
carbohydrate sulfotransferase 6provided by HGNC
Primary source
HGNC:HGNC:6938
See related
Ensembl:ENSG00000183196 MIM:605294
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
MCDC1; gn6st-5; hCGn6ST; GST4-beta; C-GlcNAc6ST; glcNAc6ST-5
Summary
The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of macular corneal dystrophy (MCD). [provided by RefSeq, Jan 2010]
Expression
Biased expression in brain (RPKM 2.4), adrenal (RPKM 0.7) and 12 other tissues See more
Orthologs

Genomic context

See CHST6 in Genome Data Viewer
Location:
16q23.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (75472042..75495441, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (75507022..75528926, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene craniofacial development protein 1 Neighboring gene CFDP1 intron CAGE-defined high expression enhancer Neighboring gene transmembrane protein 170A Neighboring gene TMEM231 pseudogene 1 Neighboring gene carbohydrate sulfotransferase 5

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

Associated conditions

Description Tests
Macular corneal dystrophy Type I
MedGen: C1636149 OMIM: 217800 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env Sulfate is linked to the carbohydrate chains of HIV-1 glycoproteins gp160, gp120, and gp41 during the endoplasmic reticulum to Golgi transport of the glycoproteins PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Glycosaminoglycan biosynthesis - keratan sulfate, organism-specific biosystem (from KEGG)
    Glycosaminoglycan biosynthesis - keratan sulfate, organism-specific biosystemKeratan sulfate (KS) is a glycosaminoglycan with the basic disaccharide unit of N-acetyllactosamine, Gal(b1-4)GlcNAc(b1-3), with sulfate esters at C-6 of GlcNAc and Gal residues. There are two types ...
  • Glycosaminoglycan biosynthesis - keratan sulfate, conserved biosystem (from KEGG)
    Glycosaminoglycan biosynthesis - keratan sulfate, conserved biosystemKeratan sulfate (KS) is a glycosaminoglycan with the basic disaccharide unit of N-acetyllactosamine, Gal(b1-4)GlcNAc(b1-3), with sulfate esters at C-6 of GlcNAc and Gal residues. There are two types ...
  • 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)...
  • Keratan sulfate biosynthesis, organism-specific biosystem (from REACTOME)
    Keratan sulfate biosynthesis, organism-specific biosystemKeratan sulfate (KSI) is the best characterised keratan sulfate. It is 10 times more abundant in cornea than cartilage. KSI is attached to an asparagine (Asn) residue on the core protein via an N-lin...
  • Keratan sulfate/keratin metabolism, organism-specific biosystem (from REACTOME)
    Keratan sulfate/keratin metabolism, organism-specific biosystemKeratan sulfate (KS) (a glycosaminoglycan, GAG) is a linear polysaccharide that consists of the repeating disaccharide unit GlcNAc-Gal (N-acetylglucosamine-galactose). KS can perform a structural fun...
  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
N-acetylglucosamine 6-O-sulfotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
N-acetylglucosamine 6-O-sulfotransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
N-acetylglucosamine 6-O-sulfotransferase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
N-acetylglucosamine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
N-acetylglucosamine metabolic process IC
Inferred by Curator
more info
PubMed 
N-acetylglucosamine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
keratan sulfate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
keratan sulfate biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
keratan sulfate biosynthetic process TAS
Traceable Author Statement
more info
 
sulfur compound metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sulfur compound metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus TAS
Traceable Author Statement
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
carbohydrate sulfotransferase 6
Names
N-acetylglucosamine 6-O-sulfotransferase 5
N-acetylglucosamine 6-sulfotransferase
carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
corneal N-acetylglucosamine 6-sulfotransferase
corneal N-acetylglucosamine-6-O-sulfotransferase
galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-beta
NP_067628.1
XP_005256012.1
XP_011521387.1

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.

Genomic

  1. NG_016442.2 RefSeqGene

    Range
    5001..28390
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_021615.5NP_067628.1  carbohydrate sulfotransferase 6 precursor

    See identical proteins and their annotated locations for NP_067628.1

    Status: REVIEWED

    Source sequence(s)
    AC009163, AF280086, BF510724, HY106598
    Consensus CDS
    CCDS10918.1
    UniProtKB/Swiss-Prot
    Q9GZX3
    Related
    ENSP00000328983.4, ENST00000332272.9
    Conserved Domains (1) summary
    pfam13469
    Location:43297
    Sulfotransfer_3; Sulfotransferase family

RNA

  1. NR_163480.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC009163
  2. NR_163481.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC009163

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_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    75472042..75495441 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005255955.5XP_005256012.1  carbohydrate sulfotransferase 6 isoform X1

    See identical proteins and their annotated locations for XP_005256012.1

    UniProtKB/Swiss-Prot
    Q9GZX3
    Related
    ENSP00000375079.2, ENST00000390664.3
    Conserved Domains (1) summary
    pfam13469
    Location:43297
    Sulfotransfer_3; Sulfotransferase family
  2. XM_011523085.3XP_011521387.1  carbohydrate sulfotransferase 6 isoform X1

    See identical proteins and their annotated locations for XP_011521387.1

    UniProtKB/Swiss-Prot
    Q9GZX3
    Conserved Domains (1) summary
    pfam13469
    Location:43297
    Sulfotransfer_3; Sulfotransferase family
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