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Aliases for CHST14 Gene

Aliases for CHST14 Gene

  • Carbohydrate (N-Acetylgalactosamine 4-0) Sulfotransferase 14 2 3
  • D4ST1 3 4 6
  • Dermatan 4 Sulfotransferase 1 2 3
  • EDSMC1 3 6
  • ATCS 3 6
  • Carbohydrate Sulfotransferase 14 3
  • Dermatan 4-Sulfotransferase 1 4
  • EC 2.8.2.35 4
  • HNK1ST 3
  • D4ST-1 4
  • HD4ST1 4

External Ids for CHST14 Gene

Previous HGNC Symbols for CHST14 Gene

  • D4ST1

Previous GeneCards Identifiers for CHST14 Gene

  • GC15P038551
  • GC15P040763
  • GC15P017607

Summaries for CHST14 Gene

Entrez Gene Summary for CHST14 Gene

  • This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the C-4 hydroxyl of N-acetylgalactosamine residues in dermatan sulfate. Mutations in this gene have been associated with adducted thumb-clubfoot syndrome.[provided by RefSeq, Mar 2010]

GeneCards Summary for CHST14 Gene

CHST14 (Carbohydrate (N-Acetylgalactosamine 4-0) Sulfotransferase 14) is a Protein Coding gene. Diseases associated with CHST14 include ehlers-danlos syndrome, musculocontractural type 1 and clubfoot. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include phosphate ion binding and N-acetylgalactosamine 4-O-sulfotransferase activity. An important paralog of this gene is CHST13.

UniProtKB/Swiss-Prot for CHST14 Gene

  • Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of dermatan sulfate. Plays a pivotal role in the formation of 4-0-sulfated IdoA blocks in dermatan sulfate. Transfers sulfate to the C-4 hydroxyl of beta1,4-linked GalNAc that is substituted with an alpha-linked iduronic acid (IdoUA) at the C-3 hydroxyl. Transfers sulfate more efficiently to GalNAc residues in -IdoUA-GalNAc-IdoUA- than in -GlcUA-GalNAc-GlcUA-sequences. Has preference for partially desulfated dermatan sulfate. Addition of sulfate to GalNAc may occur immediately after epimerization of GlcUA to IdoUA. GlcUA to IdoUA. Appears to have an important role in the formation of the cerbellar neural network during postnatal brain development.

Gene Wiki entry for CHST14 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHST14 Gene

Genomics for CHST14 Gene

Regulatory Elements for CHST14 Gene

Genomic Location for CHST14 Gene

Start:
40,470,961 bp from pter
End:
40,474,571 bp from pter
Size:
3,611 bases
Orientation:
Plus strand

Genomic View for CHST14 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CHST14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHST14 Gene

Proteins for CHST14 Gene

  • Protein details for CHST14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NCH0-CHSTE_HUMAN
    Recommended name:
    Carbohydrate sulfotransferase 14
    Protein Accession:
    Q8NCH0
    Secondary Accessions:
    • Q6PJ31
    • Q6UXA0
    • Q96P94

    Protein attributes for CHST14 Gene

    Size:
    376 amino acids
    Molecular mass:
    42997 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ88811.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for CHST14 Gene

Proteomics data for CHST14 Gene at MOPED

Post-translational modifications for CHST14 Gene

  • Ubiquitination at Lys226
  • Glycosylation at Asn110 and Asn368
  • Modification sites at PhosphoSitePlus

Other Protein References for CHST14 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CHST14 Gene

Domains for CHST14 Gene

Gene Families for CHST14 Gene

HGNC:
  • SULTM :Sulfotransferases, membrane-bound

Protein Domains for CHST14 Gene

Suggested Antigen Peptide Sequences for CHST14 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NCH0

UniProtKB/Swiss-Prot:

CHSTE_HUMAN :
  • Q8NCH0
Family:
  • Belongs to the sulfotransferase 2 family.
genes like me logo Genes that share domains with CHST14: view

Function for CHST14 Gene

Molecular function for CHST14 Gene

UniProtKB/Swiss-Prot CatalyticActivity: 3-phospho-5-adenylyl sulfate + [dermatan]-N-acetyl-D-galactosamine = adenosine 3,5-bisphosphate + [dermatan]- 4-O-sulfo-N-acetyl-D-galactosamine.
UniProtKB/Swiss-Prot Function: Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of dermatan sulfate. Plays a pivotal role in the formation of 4-0-sulfated IdoA blocks in dermatan sulfate. Transfers sulfate to the C-4 hydroxyl of beta1,4-linked GalNAc that is substituted with an alpha-linked iduronic acid (IdoUA) at the C-3 hydroxyl. Transfers sulfate more efficiently to GalNAc residues in -IdoUA-GalNAc-IdoUA- than in -GlcUA-GalNAc-GlcUA-sequences. Has preference for partially desulfated dermatan sulfate. Addition of sulfate to GalNAc may occur immediately after epimerization of GlcUA to IdoUA. GlcUA to IdoUA. Appears to have an important role in the formation of the cerbellar neural network during postnatal brain development.

Enzyme Numbers (IUBMB) for CHST14 Gene

Gene Ontology (GO) - Molecular Function for CHST14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001537 N-acetylgalactosamine 4-O-sulfotransferase activity IDA 11470797
GO:0005515 protein binding --
GO:0008146 sulfotransferase activity --
GO:0042301 phosphate ion binding NAS 11470797
genes like me logo Genes that share ontologies with CHST14: view
genes like me logo Genes that share phenotypes with CHST14: view

miRNA for CHST14 Gene

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for CHST14 Gene

Localization for CHST14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHST14 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHST14 Gene COMPARTMENTS Subcellular localization image for CHST14 gene
Compartment Confidence
golgi apparatus 5
mitochondrion 2
cytosol 1
endoplasmic reticulum 1
extracellular 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CHST14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0016021 integral component of membrane NAS 11470797
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with CHST14: view

Pathways for CHST14 Gene

genes like me logo Genes that share pathways with CHST14: view

Interacting Proteins for CHST14 Gene

Gene Ontology (GO) - Biological Process for CHST14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0016051 carbohydrate biosynthetic process IEA --
GO:0030203 glycosaminoglycan metabolic process TAS --
GO:0030204 chondroitin sulfate metabolic process TAS --
GO:0030208 dermatan sulfate biosynthetic process TAS --
genes like me logo Genes that share ontologies with CHST14: view

Compounds for CHST14 Gene

(2) HMDB Compounds for CHST14 Gene

Compound Synonyms Cas Number PubMed IDs
Dermatan
  • Chondroitin sulfate B
24967-94-0
Iduronic acid
  • L-Iduronate
3402-98-0

(6) Novoseek inferred chemical compound relationships for CHST14 Gene

Compound -log(P) Hits PubMed IDs
iduronic acid 94.3 3
dermatan 92.9 3
chondroitin 86.2 1
dermatan sulfate 83.1 5
chondroitin sulfate 68.3 1
genes like me logo Genes that share compounds with CHST14: view

Transcripts for CHST14 Gene

mRNA/cDNA for CHST14 Gene

Unigene Clusters for CHST14 Gene

Carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CHST14 Gene

No ASD Table

Relevant External Links for CHST14 Gene

GeneLoc Exon Structure for
CHST14
ECgene alternative splicing isoforms for
CHST14

Expression for CHST14 Gene

mRNA expression in normal human tissues for CHST14 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CHST14 Gene

SOURCE GeneReport for Unigene cluster for CHST14 Gene Hs.442449

mRNA Expression by UniProt/SwissProt for CHST14 Gene

Q8NCH0-CHSTE_HUMAN
Tissue specificity: Widely expressed. Expressed at high level in pituitary gland, placenta, uterus and thyroid.
genes like me logo Genes that share expressions with CHST14: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CHST14 Gene

Orthologs for CHST14 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHST14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHST14 35
  • 99.56 (n)
  • 99.47 (a)
CHST14 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHST14 35
  • 91.49 (n)
  • 93.62 (a)
CHST14 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHST14 35
  • 89.44 (n)
  • 93.54 (a)
CHST14 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chst14 35
  • 88.56 (n)
  • 92.82 (a)
Chst14 16
Chst14 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chst14 35
  • 87.82 (n)
  • 91.47 (a)
chicken
(Gallus gallus)
Aves CHST14 35
  • 71.3 (n)
  • 70.99 (a)
CHST14 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHST14 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chst14 35
  • 69.98 (n)
  • 69.34 (a)
zebrafish
(Danio rerio)
Actinopterygii chst14 35
  • 64.53 (n)
  • 65.24 (a)
chst14 36
  • 59 (a)
OneToOne
Dr.12510 35
fruit fly
(Drosophila melanogaster)
Insecta CG31743 36
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
OneToOne
Species with no ortholog for CHST14:
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 CHST14 Gene

ENSEMBL:
Gene Tree for CHST14 (if available)
TreeFam:
Gene Tree for CHST14 (if available)

Paralogs for CHST14 Gene

Paralogs for CHST14 Gene

Selected SIMAP similar genes for CHST14 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CHST14: view

Variants for CHST14 Gene

Sequence variations from dbSNP and Humsavar for CHST14 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs582736 -- 40,472,350(+) CCATG(A/G)GTGTG utr-variant-3-prime
rs633295 -- 40,470,643(-) AGTCC(A/G)GACGT upstream-variant-2KB
rs667623 -- 40,473,161(-) TGCTC(A/G)CCTTA downstream-variant-500B
rs2242080 -- 40,472,417(+) CATTC(A/G)GAGAA utr-variant-3-prime
rs4340306 -- 40,473,348(+) AGATC(A/T)CAGAC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for CHST14 Gene

Variant ID Type Subtype PubMed ID
esv34145 CNV Loss 18971310

Relevant External Links for CHST14 Gene

HapMap Linkage Disequilibrium report
CHST14
Human Gene Mutation Database (HGMD)
CHST14
Locus Specific Mutation Databases (LSDB)
CHST14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHST14 Gene

Disorders for CHST14 Gene

(1) OMIM Diseases for CHST14 Gene (608429)

UniProtKB/Swiss-Prot

CHSTE_HUMAN
  • Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) [MIM:601776]: A form of Ehlers-Danlos syndrome characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement. {ECO:0000269 PubMed:20004762, ECO:0000269 PubMed:20533528, ECO:0000269 PubMed:20842734}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for CHST14 Gene

genes like me logo Genes that share disorders with CHST14: view

Publications for CHST14 Gene

  1. Molecular cloning and characterization of a dermatan-specific N- acetylgalactosamine 4-O-sulfotransferase. (PMID: 11470797) Evers M.R. … Baenziger J.U. (J. Biol. Chem. 2001) 2 3 4 23
  2. Specificities of three distinct human chondroitin/dermatan N- acetylgalactosamine 4-O-sulfotransferases demonstrated using partially desulfated dermatan sulfate as an acceptor. Implication of differential roles in dermatan sulfate biosynthesis. (PMID: 12847091) Mikami T. … Sugahara K. (J. Biol. Chem. 2003) 3 4 23
  3. Dermatan 4-O-sulfotransferase 1 is pivotal in the formation of iduronic acid blocks in dermatan sulfate. (PMID: 19661164) Pacheco B. … Malmstrom A. (Glycobiology 2009) 3 4 23
  4. Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. (PMID: 20004762) Dundar M. … Janecke A.R. (Am. J. Hum. Genet. 2009) 3 4 23
  5. Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. (PMID: 20533528) Miyake N. … Matsumoto N. (Hum. Mutat. 2010) 3 4

Products for CHST14 Gene

Sources for CHST14 Gene

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