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CHST8 carbohydrate sulfotransferase 8 [ Homo sapiens (human) ]

Gene ID: 64377, updated on 5-Mar-2024

Summary

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Official Symbol
CHST8provided by HGNC
Official Full Name
carbohydrate sulfotransferase 8provided by HGNC
Primary source
HGNC:HGNC:15993
See related
Ensembl:ENSG00000124302 MIM:610190; AllianceGenome:HGNC:15993
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
PSS3; GalNAc4ST; GALNAC4ST1
Summary
The protein encoded by this gene belongs to the sulfotransferase 2 family. It is predominantly expressed in the pituitary gland, and is localized to the golgi membrane. This protein catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. It is responsible for sulfation of GalNAc on luteinizing hormone (LH), which is required for production of the sex hormones. Mice lacking this enzyme, exhibit increased levels of circulating LH, and precocious sexual maturation of both male and female mice. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all
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Genomic context

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Location:
19q13.11
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (33621953..33773509)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (36142649..36294279)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (34112859..34264414)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100996681 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:34057219-34058051 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:34058052-34058883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:34073971-34074472 Neighboring gene ribosomal protein L21 pseudogene 131 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr19:34093822-34095021 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:34111820-34112564 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr19:34129278-34129809 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:34163847-34164027 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:34193437-34194010 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:34215088-34215685 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:34215686-34216282 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:34254252-34254856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10499 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:34285199-34285708 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:34290888-34291656 Neighboring gene potassium channel tetramerization domain containing 15 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:34311239-34312233 Neighboring gene uncharacterized LOC124904693

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. The glycan-specific sulfotransferase (R77W)GalNAc-4-ST1 putatively responsible for peeling skin syndrome has normal properties consistent with a simple sequence polymorphisim. Fiete D, et al. Glycobiology, 2017 May 1. PMID 28204496, Free PMC Article
  2. Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. Cabral RM, et al. Genomics, 2012 Apr. PMID 22289416, Free PMC Article
  3. Differential expression and enzymatic properties of GalNAc-4-sulfotransferase-1 and GalNAc-4-sulfotransferase-2. Boregowda RK, et al. Glycobiology, 2005 Dec. PMID 16079414
  4. Glycosylation-related gene expression in prion diseases: PrPSc accumulation in scrapie infected GT1 cells depends on beta-1,4-linked GalNAc-4-SO4 hyposulfation. Barret A, et al. J Biol Chem, 2005 Mar 18. PMID 15632154
  5. Molecular cloning and characterization of GalNAc 4-sulfotransferase expressed in human pituitary gland. Okuda T, et al. J Biol Chem, 2000 Dec 22. PMID 11001942

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. These findings, an allele frequency of 0.004357, and a 10-fold difference in prevalence of CHST8 (c.299 C > T, R77W) across different ethnic groups, suggest that this sequence represents a "passenger" distributed polymorphism, a simple sequence variant form of the enzyme having normal activity, rather than a "driver" disease-causing mutation that accounts for peeling skin syndrome
    Title: The glycan-specific sulfotransferase (R77W)GalNAc-4-ST1 putatively responsible for peeling skin syndrome has normal properties consistent with a simple sequence polymorphisim.
  2. A missense mutation in the CHST8 gene, encoding GalNAc4-ST1, is the underlying cause of type A non-inflammatory peeling skin syndrome in this family.
    Title: Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Analyses of shared genetic factors between asthma and obesity in children.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  5. analysis of enzymatic properties and expression of GalNAc-4-sulfotransferase-1 and GalNAc-4-sulfotransferase-2
    Title: Differential expression and enzymatic properties of GalNAc-4-sulfotransferase-1 and GalNAc-4-sulfotransferase-2.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
EBI GWAS Catalog
Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
EBI GWAS Catalog
Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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 PubChem

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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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables N-acetylgalactosamine 4-O-sulfotransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables N-acetylgalactosamine 4-O-sulfotransferase activity TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sulfotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in carbohydrate biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in central nervous system development NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in hormone biosynthetic process IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in proteoglycan biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in proteoglycan biosynthetic process IDA
Inferred from Direct Assay
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 8
Names
GALNAC-4-ST1
GalNAc-4-O-sulfotransferase 1
N-acetylgalactosamine-4-O-sulfotransferase 1
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8
galNAc4ST-1
NP_001121367.1
NP_001121368.1
NP_071912.2
XP_011525524.1
XP_011525526.1
XP_016882632.1
XP_054177738.1
XP_054177739.1
XP_054177740.1

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

  1. NG_029857.2 RefSeqGene

    Range
    5002..156555
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001127895.2 → NP_001121367.1  carbohydrate sulfotransferase 8

    See identical proteins and their annotated locations for NP_001121367.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an additional 5' non-coding exon compared to variant 1. Variants 1-3 encode the same protein.
    Source sequence(s)
    AC010510, BC011380, BC014250, BX354555, DB500322
    Consensus CDS
    CCDS12433.1
    UniProtKB/Swiss-Prot
    Q9H2A9, Q9H3N2
    Related
    ENSP00000499084.1, ENST00000650847.1
    Conserved Domains (1) summary
    pfam03567
    Location:187 → 416
    Sulfotransfer_2; Sulfotransferase family

  2. NM_001127896.2 → NP_001121368.1  carbohydrate sulfotransferase 8

    See identical proteins and their annotated locations for NP_001121368.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript. Variants 1-3 encode the same protein.
    Source sequence(s)
    AC010510, BC014250, BI917117
    Consensus CDS
    CCDS12433.1
    UniProtKB/Swiss-Prot
    Q9H2A9, Q9H3N2
    Related
    ENSP00000393879.1, ENST00000438847.7
    Conserved Domains (1) summary
    pfam03567
    Location:187 → 416
    Sulfotransfer_2; Sulfotransferase family

  3. NM_022467.3 → NP_071912.2  carbohydrate sulfotransferase 8

    See identical proteins and their annotated locations for NP_071912.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' non-coding exon compared to variant 1. Variants 1-3 encode the same protein.
    Source sequence(s)
    BC018723
    Consensus CDS
    CCDS12433.1
    UniProtKB/Swiss-Prot
    Q9H2A9, Q9H3N2
    Related
    ENSP00000262622.3, ENST00000262622.4
    Conserved Domains (1) summary
    pfam03567
    Location:187 → 416
    Sulfotransfer_2; Sulfotransferase family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    33621953..33773509
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527224.1 → XP_011525526.1  carbohydrate sulfotransferase 8 isoform X1

    See identical proteins and their annotated locations for XP_011525526.1

    UniProtKB/Swiss-Prot
    Q9H2A9, Q9H3N2
    Conserved Domains (1) summary
    pfam03567
    Location:187 → 416
    Sulfotransfer_2; Sulfotransferase family

  2. XM_011527222.1 → XP_011525524.1  carbohydrate sulfotransferase 8 isoform X1

    See identical proteins and their annotated locations for XP_011525524.1

    UniProtKB/Swiss-Prot
    Q9H2A9, Q9H3N2
    Conserved Domains (1) summary
    pfam03567
    Location:187 → 416
    Sulfotransfer_2; Sulfotransferase family

  3. XM_017027143.1 → XP_016882632.1  carbohydrate sulfotransferase 8 isoform X1

    UniProtKB/Swiss-Prot
    Q9H2A9, Q9H3N2
    Conserved Domains (1) summary
    pfam03567
    Location:187 → 416
    Sulfotransfer_2; Sulfotransferase family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    36142649..36294279
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054321764.1 → XP_054177739.1  carbohydrate sulfotransferase 8 isoform X1

    UniProtKB/Swiss-Prot
    Q9H2A9, Q9H3N2

  2. XM_054321763.1 → XP_054177738.1  carbohydrate sulfotransferase 8 isoform X1

    UniProtKB/Swiss-Prot
    Q9H2A9, Q9H3N2

  3. XM_054321765.1 → XP_054177740.1  carbohydrate sulfotransferase 8 isoform X1

    UniProtKB/Swiss-Prot
    Q9H2A9, Q9H3N2
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H2A9.2 GenPept UniProtKB/Swiss-Prot:Q9H2A9

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