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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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    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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