Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CHST14 Gene

Aliases for CHST14 Gene

  • Carbohydrate (Dermatan 4) Sulfotransferase 14 2 3
  • Carbohydrate (N-Acetylgalactosamine 4-0) Sulfotransferase 14 2 3 5
  • Dermatan 4 Sulfotransferase 1 2 3
  • D4ST1 3 4
  • Carbohydrate Sulfotransferase 14 2
  • Dermatan 4-Sulfotransferase 1 4
  • EC 2.8.2.35 4
  • HNK1ST 3
  • EDSMC1 3
  • D4ST-1 4
  • HD4ST1 4
  • ATCS 3

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 (Dermatan 4) Sulfotransferase 14) is a Protein Coding gene. Diseases associated with CHST14 include Ehlers-Danlos Syndrome, Musculocontractural Type 1 and Ehlers-Danlos Syndrome, Musculocontractural Type. Among its related pathways are Glycosaminoglycan metabolism and Metabolism. 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 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

Enhancers for CHST14 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 CHST14 on UCSC Golden Path with GeneCards custom track

Promoters for CHST14 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CHST14 on UCSC Golden Path with GeneCards custom track

Genomic Location for CHST14 Gene

Chromosome:
15
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

Genes around CHST14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHST14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 226
  • Glycosylation at Asn 110 and Asn 368
  • Modification sites at PhosphoSitePlus

Other Protein References for CHST14 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CHST14 Gene

Domains & Families for CHST14 Gene

Gene Families for CHST14 Gene

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 :
  • Belongs to the sulfotransferase 2 family.
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

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

Human Phenotype Ontology for CHST14 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHST14 Gene

MGI Knock Outs for CHST14:

Animal Model Products

  • Taconic Biosciences Mouse Models for CHST14

CRISPR Products

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
extracellular 5
golgi apparatus 5
mitochondrion 2
cytosol 1
endoplasmic reticulum 1
nucleus 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for CHST14 Gene

Pathways & Interactions 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:0030204 chondroitin sulfate metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with CHST14: view

No data available for SIGNOR curated interactions for CHST14 Gene

Drugs & Compounds for CHST14 Gene

(2) Drugs for CHST14 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iduronic acid Experimental Pharma 0

(6) Additional Compounds for CHST14 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dermatan
  • b-Heparin
  • beta-Heparin
  • Chondroitin sulfate B
  • Chondroitin sulfate type B
  • Chondroitin sulphate B
24967-94-0
Adenosine 3',5'-diphosphate
  • 3'-Phosphoryl-AMP
  • 3,5-ADP
  • 3,5-Diphosphoadenosine
  • 3-Phosphoadenosine 5-phosphate
  • 5-(Dihydrogen phosphate) 3-Adenylate
1053-73-2
Phosphoadenosine phosphosulfate
  • 3'-Phospho-5'-adenylyl sulfate
  • 3'-Phospho-5'-adenylyl sulphate
  • 3'-Phosphoadenosine 5'-phosphosulfate
  • 3'-Phosphoadenosine 5'-phosphosulphate
  • 3'-Phosphoadenosine-5'-phosphosulfate
482-67-7
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

Protein differential expression in normal tissues from HIPED for CHST14 Gene

This gene is overexpressed in Nasal epithelium (55.4) and Bone (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CHST14: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners 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
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
chimpanzee
(Pan troglodytes)
Mammalia CHST14 35
  • 99.56 (n)
  • 99.47 (a)
CHST14 36
  • 99 (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)
Dr.12510 35
chst14 36
  • 59 (a)
OneToOne
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

(2) 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
VAR_063754 Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1)
VAR_063755 Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1)
rs121908257 Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) 40,471,851(+) TGTGC(C/G)GGAGC reference, missense
rs121908258 Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) 40,472,091(+) GCACT(A/G)TGACT reference, missense
VAR_064555 Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1)

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

Variant ID Type Subtype PubMed ID
esv34145 CNV Loss 18971310

Variation tolerance for CHST14 Gene

Residual Variation Intolerance Score: 20.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.11; 22.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHST14 Gene

Human Gene Mutation Database (HGMD)
CHST14

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

Disorders for CHST14 Gene

MalaCards: The human disease database

(8) MalaCards diseases for CHST14 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ehlers-danlos syndrome, musculocontractural type 1
  • adducted thumb-clubfoot syndrome
ehlers-danlos syndrome, musculocontractural type
  • ehlers-danlos syndrome, musculocontractural type 1
clubfoot
  • congenital clubfoot
ehlers-danlos syndrome
  • cutis hyperelastica
congenital contractures
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for CHST14

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHST14
genes like me logo Genes that share disorders with CHST14: view

No data available for Genatlas for CHST14 Gene

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 67
  2. 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 23
  3. 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 23
  4. 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 23
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for CHST14 Gene

Sources for CHST14 Gene

Content