CHST1 carbohydrate sulfotransferase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CHST1provided by HGNC
Official Full Name: carbohydrate sulfotransferase 1provided by HGNC
Primary source: HGNC:HGNC:1969
See related: Ensembl:ENSG00000175264 MIM:603797; AllianceGenome:HGNC:1969
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: C6ST; KSST; GST-1; KS6ST; KSGal6ST
Summary: This locus encodes a member of the keratin sulfotransferase family of proteins. The encoded enzyme catalyzes the sulfation of the proteoglycan keratin. [provided by RefSeq, Aug 2011]
Expression: Biased expression in brain (RPKM 12.8), thyroid (RPKM 2.7) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p11.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (45647689..45665622, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (45803398..45821330, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (45669239..45687172, complement)

Chromosome 11 - NC_000011.10 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 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?

found endogenous expression of the long form of the enzyme in human tissue, predominantly in the trans-Golgi network of endothelial cells that form human high endothelial venules.
Title: Expression of long-form N-acetylglucosamine-6-O-sulfotransferase 1 in human high endothelial venules.
Epitope expressing changes with suppression or over-expression of the Gal6ST (Gal 6-O-sulfotransferase) gene, suggesting that Gal6ST is involved in the biosynthesis of the unique epitopes of KL-6/mAb.
Title: Novel O-linked glycans containing 6'-sulfo-Gal/GalNAc of MUC1 secreted from human breast cancer YMB-S cells: possible carbohydrate epitopes of KL-6(MUC1) monoclonal antibody.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Family-based analysis of genetic variation underlying psychosis-inducing effects of cannabis: sibling analysis and proband follow-up.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
A new point mutation in C6ST-1 is associated with spondyloepiphyseal dysplasia, Omani type.
Title: Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype.
sulfated keratan sulfate is produced by beta3GNT7, beta4GalT4, CGn6ST, and KSG6ST
Title: Enzymes responsible for synthesis of corneal keratan sulfate glycosaminoglycans.
The first to identify upregulated CHST1 protein gene expression correlating with the motility of Schwann cells that guide growing axons through both developmental and injured environments.
Title: Upregulation of chondroitin 6-sulphotransferase-1 facilitates Schwann cell migration during axonal growth.
C4ST-1 and C6ST-1 differ from each other in the recognition of uronic acid residues adjacent to the targeted GalNAc residue
Title: Chondroitin 4-sulphotransferase-1 and chondroitin 6-sulphotransferase-1 are affected differently by uronic acid residues neighbouring the acceptor GalNAc residues.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed
Knockdown of carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

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

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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

RH12401 (e-PCR)
- UniSTS:36711

RH102797 (e-PCR)
- UniSTS:97131

RH12643 (e-PCR)
- UniSTS:43373

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables N-acetylglucosamine 6-O-sulfotransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables keratan sulfotransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables keratan sulfotransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables keratan sulfotransferase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sulfotransferase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in N-acetylglucosamine metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in galactose metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in keratan sulfate biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in keratan sulfate biosynthetic process	TAS Traceable Author Statement more info
involved_in keratan sulfate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in keratan sulfate metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in polysaccharide metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in sulfur compound metabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: carbohydrate sulfotransferase 1

Names: Keratan sulfotransferase; carbohydrate (chondroitin 6/keratan) sulfotransferase 1; carbohydrate (keratan sulfate Gal-6) sulfotransferase 1; galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 1

NP_003645.1

EC 2.8.2.21

XP_006718419.1

EC 2.8.2.21

XP_016873948.1

EC 2.8.2.21

XP_047283737.1

EC 2.8.2.21

XP_054226285.1

EC 2.8.2.21

XP_054226286.1

EC 2.8.2.21

XP_054226287.1

EC 2.8.2.21

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.

Genomic

NG_029811.1 RefSeqGene

Range

5035..22968

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003654.6 → NP_003645.1 carbohydrate sulfotransferase 1

See identical proteins and their annotated locations for NP_003645.1

Status: REVIEWED

Source sequence(s)

AC087442, AI793094, BC022567, BI917296, DA193787, DB493321

Consensus CDS

CCDS7913.1

UniProtKB/Swiss-Prot

D3DQP2, O43916

Related

ENSP00000309270.2, ENST00000308064.7

Conserved Domains (1) summary

pfam00685
Location:200 → 384

Sulfotransfer_1; Sulfotransferase domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

45647689..45665622 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006718356.5 → XP_006718419.1 carbohydrate sulfotransferase 1 isoform X1

See identical proteins and their annotated locations for XP_006718419.1

Conserved Domains (1) summary

pfam00685
Location:60 → 384

Sulfotransfer_1; Sulfotransferase domain
XM_047427781.1 → XP_047283737.1 carbohydrate sulfotransferase 1 isoform X2

UniProtKB/Swiss-Prot

D3DQP2, O43916
XM_017018459.3 → XP_016873948.1 carbohydrate sulfotransferase 1 isoform X1

Conserved Domains (1) summary

pfam00685
Location:60 → 384

Sulfotransfer_1; Sulfotransferase domain

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

45803398..45821330 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054370310.1 → XP_054226285.1 carbohydrate sulfotransferase 1 isoform X1
XM_054370312.1 → XP_054226287.1 carbohydrate sulfotransferase 1 isoform X2

UniProtKB/Swiss-Prot

D3DQP2, O43916
XM_054370311.1 → XP_054226286.1 carbohydrate sulfotransferase 1 isoform X1