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] See more...

Aliases for CHST14 Gene

Aliases for CHST14 Gene

  • Carbohydrate Sulfotransferase 14 2 3 4 5
  • Carbohydrate (N-Acetylgalactosamine 4-0) Sulfotransferase 14 2 3
  • Carbohydrate (Dermatan 4) Sulfotransferase 14 2 3
  • Dermatan 4 Sulfotransferase 1 2 3
  • D4ST-1 2 4
  • D4ST1 3 4
  • Dermatan 4-Sulfotransferase 1 4
  • EC 2.8.2.35 4
  • EDSMC1 3
  • HNK1ST 3
  • CHST14 5
  • HD4ST1 4
  • HD4ST 2
  • 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 Sulfotransferase 14) is a Protein Coding gene. Diseases associated with CHST14 include Ehlers-Danlos Syndrome, Musculocontractural Type, 1 and Musculocontractural Ehlers-Danlos Syndrome. Among its related pathways are Glycosaminoglycan metabolism and Chondroitin sulfate/dermatan sulfate metabolism. Gene Ontology (GO) annotations related to this gene include sulfotransferase activity and N-acetylgalactosamine 4-O-sulfotransferase activity. An important paralog of this gene is CHST8.

UniProtKB/Swiss-Prot Summary 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. Appears to have an important role in the formation of the cerebellar neural network during postnatal brain development.

Gene Wiki entry for CHST14 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHST14 Gene

Genomics for CHST14 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CHST14 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHST14 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHST14

Top Transcription factor binding sites by QIAGEN in the CHST14 gene promoter:
  • E47
  • HEN1
  • NF-kappaB
  • NF-kappaB1
  • Nkx2-5
  • NRSF form 1
  • RelA
  • Sp1
  • Tal-1
  • Zic3

Genomic Locations for CHST14 Gene

Latest Assembly
chr15:40,470,984-40,473,158
(GRCh38/hg38)
Size:
2,175 bases
Orientation:
Plus strand

Previous Assembly
chr15:40,763,183-40,765,357
(GRCh37/hg19 by Entrez Gene)
Size:
2,175 bases
Orientation:
Plus strand

chr15:40,763,160-40,765,353
(GRCh37/hg19 by Ensembl)
Size:
2,194 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=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for CHST14 Gene

Post-translational modifications for CHST14 Gene

  • Glycosylation at Asn110 and Asn368
  • Ubiquitination at Lys226
  • 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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for CHST14 Gene

Suggested Antigen Peptide Sequences for CHST14 Gene

GenScript: Design optimal peptide antigens:
  • Dermatan 4-sulfotransferase 1 (CHSTE_HUMAN)

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 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. Appears to have an important role in the formation of the cerebellar neural network during postnatal brain development.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=n 3'-phosphoadenylyl sulfate + dermatan = n adenosine 3',5'-bisphosphate + dermatan 4'-sulfate + n H(+); Xref=Rhea:RHEA:48052, Rhea:RHEA-COMP:9965, Rhea:RHEA-COMP:11986, ChEBI:CHEBI:15378, ChEBI:CHEBI:58339, ChEBI:CHEBI:58343, ChEBI:CHEBI:58465, ChEBI:CHEBI:60059; EC=2.8.2.35; Evidence={ECO:0000269|PubMed:11470797, ECO:0000269|PubMed:19661164};.

Enzyme Numbers (IUBMB) for CHST14 Gene

Phenotypes From GWAS Catalog 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 TAS --
GO:0008146 sulfotransferase activity IEA,IBA 21873635
GO:0016740 transferase activity IEA --
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

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 Models for research

  • Taconic Biosciences Mouse Models for CHST14

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHST14

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHST14 gene
Compartment Confidence
extracellular 4
golgi apparatus 4
mitochondrion 2
plasma membrane 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CHST14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA,TAS --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,NAS 11470797
GO:0070062 extracellular exosome HDA 19199708
genes like me logo Genes that share ontologies with CHST14: view

Pathways & Interactions for CHST14 Gene

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

Gene Ontology (GO) - Biological Process for CHST14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0016051 carbohydrate biosynthetic process IEA --
GO:0030208 dermatan sulfate biosynthetic process IDA,TAS --
GO:0050655 dermatan sulfate proteoglycan metabolic process IBA,IDA 11470797
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dermatan sulfate Experimental Pharma 0
3'-phospho-5'-adenylyl sulfate Experimental Pharma 0
Adenosine 3',5'-diphosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Iduronic acid
  • Iduronate
  • L-Iduronate
  • L-Iduronic acid
  • Acid, iduronic
  • (2S,3R,4R,5S)-2,3,4,5-Tetrahydroxy-6-oxohexanoate
3402-98-0
genes like me logo Genes that share compounds with CHST14: view

Transcripts for CHST14 Gene

mRNA/cDNA for CHST14 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHST14

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

No ASD Table

Relevant External Links for CHST14 Gene

GeneLoc Exon Structure for
CHST14

Expression for CHST14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for CHST14 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHST14

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.

Evidence on tissue expression from TISSUES for CHST14 Gene

  • Lung(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CHST14 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • outer ear
  • skull
  • tooth
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
  • testicle
  • ureter
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with CHST14: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia CHST14 29 30
  • 99.56 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CHST14 29 30
  • 91.49 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CHST14 29 30
  • 89.44 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Chst14 29 16 30
  • 88.56 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Chst14 29
  • 87.82 (n)
Chicken
(Gallus gallus)
Aves CHST14 29 30
  • 71.3 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CHST14 30
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia chst14 29
  • 69.98 (n)
Zebrafish
(Danio rerio)
Actinopterygii chst14 29 30
  • 64.53 (n)
OneToOne
Dr.12510 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG31743 30
  • 29 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 33 (a)
OneToOne
Species where no ortholog for CHST14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CHST14: view image
Alliance of Genome Resources:
Additional Orthologs for CHST14

Paralogs for CHST14 Gene

Paralogs for CHST14 Gene

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

  • CHSTE_HUMAN
  • H0YN65_HUMAN
genes like me logo Genes that share paralogs with CHST14: view

Variants for CHST14 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHST14 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
1004396 Uncertain Significance: Ehlers-Danlos syndrome, musculocontractural type 40,471,224(+) G/C
NM_130468.4(CHST14):c.11G>C (p.Arg4Pro)
MISSENSE
1012668 Uncertain Significance: not provided 40,472,331(+) CGTGTCAGCAGTGACC
NM_130468.4(CHST14):c.1120_*12del (p.Cys374_Ter377del)
STOP_LOST,INFRAME_DELETION
1014256 Uncertain Significance: Ehlers-Danlos syndrome, musculocontractural type 40,471,900(+) G/C
NM_130468.4(CHST14):c.687G>C (p.Glu229Asp)
MISSENSE
1017964 Uncertain Significance: Ehlers-Danlos syndrome, musculocontractural type 40,471,386(+) T/C
NM_130468.4(CHST14):c.173T>C (p.Leu58Pro)
MISSENSE
1026315 Uncertain Significance: Ehlers-Danlos syndrome, musculocontractural type 40,471,805(+) G/A
NM_130468.4(CHST14):c.592G>A (p.Glu198Lys)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CHST14 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for CHST14 Gene

Human Gene Mutation Database (HGMD)
CHST14
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHST14
Leiden Open Variation Database (LOVD)
CHST14

SNP Genotyping and Copy Number Assays for research

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

Disorders for CHST14 Gene

MalaCards: The human disease database

(22) MalaCards diseases for CHST14 Gene - From: OMI, CVR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
ehlers-danlos syndrome, musculocontractural type, 1
  • edsmc1
musculocontractural ehlers-danlos syndrome
  • adducted thumb clubfoot syndrome
brittle cornea syndrome 1
  • bcs1
ehlers-danlos syndrome
  • cutis hyperelastica
congenital contractures
  • congenital contracture
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for 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. Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. (PMID: 20004762) Dündar M … Janecke AR (American journal of human genetics 2009) 3 4 22 72
  2. Molecular cloning and characterization of a dermatan-specific N-acetylgalactosamine 4-O-sulfotransferase. (PMID: 11470797) Evers MR … Baenziger JU (The Journal of biological chemistry 2001) 2 3 4 22
  3. Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. (PMID: 20533528) Miyake N … Matsumoto N (Human mutation 2010) 3 4 72
  4. Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene. (PMID: 20842734) Malfait F … De Paepe A (Human mutation 2010) 3 4 72
  5. Dermatan 4-O-sulfotransferase 1 is pivotal in the formation of iduronic acid blocks in dermatan sulfate. (PMID: 19661164) Pacheco B … Malmström A (Glycobiology 2009) 3 4 22

Products for CHST14 Gene

Sources for CHST14 Gene