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Aliases for CHST8 Gene

Aliases for CHST8 Gene

  • Carbohydrate Sulfotransferase 8 2 3
  • Carbohydrate (N-Acetylgalactosamine 4-0) Sulfotransferase 8 2 3 5
  • N-Acetylgalactosamine-4-O-Sulfotransferase 1 3 4
  • GalNAc-4-O-Sulfotransferase 1 3 4
  • GALNAC-4-ST1 3 4
  • GalNAc4ST-1 3 4
  • GALNAC4ST1 3
  • EC 2.8.2.- 4
  • GalNAc4ST 3
  • PSS3 3

External Ids for CHST8 Gene

Previous GeneCards Identifiers for CHST8 Gene

  • GC19P034730
  • GC19P034561
  • GC19P038788
  • GC19P038804
  • GC19P038867
  • GC19P034112
  • GC19P030612

Summaries for CHST8 Gene

Entrez Gene Summary for CHST8 Gene

  • 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]

GeneCards Summary for CHST8 Gene

CHST8 (Carbohydrate Sulfotransferase 8) is a Protein Coding gene. Diseases associated with CHST8 include peeling skin syndrome 3 and peeling skin syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and N-glycan antennae elongation in the medial/trans-Golgi. GO annotations related to this gene include sulfotransferase activity and N-acetylgalactosamine 4-O-sulfotransferase activity. An important paralog of this gene is CHST9.

UniProtKB/Swiss-Prot for CHST8 Gene

  • Catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Required for biosynthesis of glycoprotein hormones lutropin and thyrotropin, by mediating sulfation of their carbohydrate structures. Only active against terminal GalNAcbeta1,GalNAcbeta. Not active toward chondroitin.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHST8 Gene

Genomics for CHST8 Gene

Regulatory Elements for CHST8 Gene

Enhancers for CHST8 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CHST8 on UCSC Golden Path with GeneCards custom track

Genomic Location for CHST8 Gene

Chromosome:
19
Start:
33,621,955 bp from pter
End:
33,773,509 bp from pter
Size:
151,555 bases
Orientation:
Plus strand

Genomic View for CHST8 Gene

Genes around CHST8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHST8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHST8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHST8 Gene

Proteins for CHST8 Gene

  • Protein details for CHST8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H2A9-CHST8_HUMAN
    Recommended name:
    Carbohydrate sulfotransferase 8
    Protein Accession:
    Q9H2A9
    Secondary Accessions:
    • Q9H3N2

    Protein attributes for CHST8 Gene

    Size:
    424 amino acids
    Molecular mass:
    48834 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CHST8 Gene

Proteomics data for CHST8 Gene at MOPED

Post-translational modifications for CHST8 Gene

  • Glycosylation at Ser 80, Asn 128, Asn 294, Asn 367, and Asn 415
  • Modification sites at PhosphoSitePlus

Other Protein References for CHST8 Gene

Antibody Products

No data available for DME Specific Peptides for CHST8 Gene

Domains & Families for CHST8 Gene

Gene Families for CHST8 Gene

Protein Domains for CHST8 Gene

Suggested Antigen Peptide Sequences for CHST8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H2A9

UniProtKB/Swiss-Prot:

CHST8_HUMAN :
  • Belongs to the sulfotransferase 2 family.
Family:
  • Belongs to the sulfotransferase 2 family.
genes like me logo Genes that share domains with CHST8: view

Function for CHST8 Gene

Molecular function for CHST8 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=10 uM for carbonic anhydrase VI {ECO:0000269 PubMed:11001942}; pH dependence: Optimum pH is 7.2. {ECO:0000269 PubMed:11001942};
UniProtKB/Swiss-Prot Function:
Catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Required for biosynthesis of glycoprotein hormones lutropin and thyrotropin, by mediating sulfation of their carbohydrate structures. Only active against terminal GalNAcbeta1,GalNAcbeta. Not active toward chondroitin.
UniProtKB/Swiss-Prot Induction:
Down-regulated (17-fold) in prion-infected cells.

Enzyme Numbers (IUBMB) for CHST8 Gene

genes like me logo Genes that share phenotypes with CHST8: view

Human Phenotype Ontology for CHST8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHST8 Gene

MGI Knock Outs for CHST8:

Animal Model Products

  • Taconic Biosciences Mouse Models for CHST8

miRNA for CHST8 Gene

miRTarBase miRNAs that target CHST8

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for CHST8 Gene

Localization for CHST8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHST8 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHST8 Gene COMPARTMENTS Subcellular localization image for CHST8 gene
Compartment Confidence
golgi apparatus 5
extracellular 2
endoplasmic reticulum 1
lysosome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for CHST8 Gene

Pathways & Interactions for CHST8 Gene

genes like me logo Genes that share pathways with CHST8: view

Interacting Proteins for CHST8 Gene

Gene Ontology (GO) - Biological Process for CHST8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030166 proteoglycan biosynthetic process IDA 10988300
GO:0042446 hormone biosynthetic process IEP 10988300
genes like me logo Genes that share ontologies with CHST8: view

No data available for SIGNOR curated interactions for CHST8 Gene

Drugs & Compounds for CHST8 Gene

No Compound Related Data Available

Transcripts for CHST8 Gene

Unigene Clusters for CHST8 Gene

Carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CHST8 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c
SP1: - -
SP2: - - -
SP3: -
SP4: - -

Relevant External Links for CHST8 Gene

GeneLoc Exon Structure for
CHST8
ECgene alternative splicing isoforms for
CHST8

Expression for CHST8 Gene

mRNA expression in normal human tissues for CHST8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CHST8 Gene

This gene is overexpressed in Pituitary (x19.7).

Protein differential expression in normal tissues from HIPED for CHST8 Gene

This gene is overexpressed in Heart (64.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CHST8 Gene



SOURCE GeneReport for Unigene cluster for CHST8 Gene Hs.165724

mRNA Expression by UniProt/SwissProt for CHST8 Gene

Q9H2A9-CHST8_HUMAN
Tissue specificity: Predominantly expressed in pituitary gland. In brain, it is expressed in pituitary gland, cerebellum, medulla oblongata, pons, thalamus and spinal cord. Expressed in the epidermis. Expressed at lower level in lung, spleen, adrenal gland, placenta, prostate, testis, mammary gland and trachea.
genes like me logo Genes that share expression patterns with CHST8: view

Protein tissue co-expression partners for CHST8 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for CHST8 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHST8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CHST8 35
  • 87.74 (n)
  • 87.74 (a)
CHST8 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHST8 35
  • 88.29 (n)
  • 88.21 (a)
CHST8 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chst8 35
  • 83.09 (n)
  • 87.5 (a)
Chst8 16
Chst8 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CHST8 35
  • 99.37 (n)
  • 99.29 (a)
CHST8 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chst8 35
  • 83.89 (n)
  • 87.5 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia CHST8 36
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHST8 35
  • 66.34 (n)
  • 74.84 (a)
CHST8 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHST8 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chst8 35
  • 61.18 (n)
  • 64.41 (a)
zebrafish
(Danio rerio)
Actinopterygii chst8 35
  • 64.58 (n)
  • 69.37 (a)
wufj18f04 35
chst8 36
  • 59 (a)
OneToMany
CHST8 (2 of 2) 36
  • 71 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG13937 36
  • 22 (a)
ManyToMany
CG14024 36
  • 21 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 26 (a)
ManyToMany
-- 36
  • 24 (a)
ManyToMany
-- 36
  • 21 (a)
ManyToMany
-- 36
  • 24 (a)
ManyToMany
-- 36
  • 27 (a)
ManyToMany
Species with no ortholog for CHST8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CHST8 Gene

ENSEMBL:
Gene Tree for CHST8 (if available)
TreeFam:
Gene Tree for CHST8 (if available)

Paralogs for CHST8 Gene

Paralogs for CHST8 Gene

(5) SIMAP similar genes for CHST8 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CHST8: view

Variants for CHST8 Gene

Sequence variations from dbSNP and Humsavar for CHST8 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_036538 A colorectal cancer sample
rs149660944 Peeling skin syndrome 3 (PSS3) 33,772,017(+) TCACT(A/C/T)GGGAC reference, missense
rs759822 -- 33,672,544(+) GTCAG(C/T)GACGG intron-variant
rs759823 -- 33,672,611(+) GAAGA(A/G)AAGCT intron-variant
rs759824 -- 33,672,928(+) GTGAC(A/G)CTGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHST8 Gene

Variant ID Type Subtype PubMed ID
dgv1073e1 CNV Complex 17122850
dgv139e55 CNV Gain 17911159
esv23382 CNV Loss 19812545
esv2718477 CNV Deletion 23290073
nsv509736 CNV Insertion 20534489
nsv833809 CNV Loss 17160897
essv22276 CNV CNV 17122850
nsv507894 CNV Insertion 20534489
esv2718478 CNV Deletion 23290073
esv1416262 CNV Deletion 17803354
esv2718479 CNV Deletion 23290073
esv1700346 CNV Insertion 17803354
esv33416 CNV Loss 17666407

Variation tolerance for CHST8 Gene

Residual Variation Intolerance Score: 26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.16; 23.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHST8 Gene

HapMap Linkage Disequilibrium report
CHST8
Human Gene Mutation Database (HGMD)
CHST8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHST8 Gene

Disorders for CHST8 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CHST8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
peeling skin syndrome 3
  • pss3
peeling skin syndrome
  • peeling skin syndrome 1
peeling skin syndrome type a
  • generalized deciduous skin type a
- elite association - COSMIC cancer census association via MalaCards
Search CHST8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CHST8_HUMAN
  • Peeling skin syndrome 3 (PSS3) [MIM:616265]: A form of peeling skin syndrome, a genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non-inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. PSS3 is characterized by generalized white scaling occurring over the upper and lower extremities. Symptoms start during the second half of the first decade of life. {ECO:0000269 PubMed:22289416}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CHST8

Genetic Association Database (GAD)
CHST8
Human Genome Epidemiology (HuGE) Navigator
CHST8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHST8
genes like me logo Genes that share disorders with CHST8: view

No data available for Genatlas for CHST8 Gene

Publications for CHST8 Gene

  1. Molecular cloning and characterization of GalNAc 4-sulfotransferase expressed in human pituitary gland. (PMID: 11001942) Okuda T. … Habuchi O. (J. Biol. Chem. 2000) 2 3 4 67
  2. Molecular cloning and expression of the pituitary glycoprotein hormone N-acetylgalactosamine-4-O-sulfotransferase. (PMID: 10988300) Xia G. … Baenziger J.U. (J. Biol. Chem. 2000) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. (PMID: 23377640) (Am J Psychiatry 2013) 3
  5. Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. (PMID: 22289416) Cabral R.M. … Christiano A.M. (Genomics 2012) 3

Products for CHST8 Gene

Sources for CHST8 Gene

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