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Protein

Carbohydrate sulfotransferase 14

Gene

CHST14

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.1 Publication

Catalytic activityi

3'-phospho-5'-adenylyl sulfate + [dermatan]-N-acetyl-D-galactosamine = adenosine 3',5'-bisphosphate + [dermatan]- 4-O-sulfo-N-acetyl-D-galactosamine.2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi155 – 161PAPSBy similarity7
Nucleotide bindingi213 – 221PAPSBy similarity9

GO - Molecular functioni

  • N-acetylgalactosamine 4-O-sulfotransferase activity Source: UniProtKB
  • phosphate ion binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionTransferase
Biological processCarbohydrate metabolism

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000169105-MONOMER
BRENDAi2.8.2.35 2681
ReactomeiR-HSA-2022923 Dermatan sulfate biosynthesis
R-HSA-3595174 Defective CHST14 causes EDS, musculocontractural type

Names & Taxonomyi

Protein namesi
Recommended name:
Carbohydrate sulfotransferase 14 (EC:2.8.2.35)
Alternative name(s):
Dermatan 4-sulfotransferase 1
Short name:
D4ST-1
Short name:
hD4ST1
Gene namesi
Name:CHST14
Synonyms:D4ST1
ORF Names:UNQ1925/PRO4400
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000169105.7
HGNCiHGNC:24464 CHST14
MIMi608429 gene
neXtProtiNX_Q8NCH0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 39CytoplasmicSequence analysisAdd BLAST39
Transmembranei40 – 60Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini61 – 376LumenalSequence analysisAdd BLAST316

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:601776
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063754135R → G in EDSMC1; associated in a complex allele with Q-137; results in altered intracellular processing. 1 PublicationCorresponds to variant dbSNP:rs267606727EnsemblClinVar.1
Natural variantiVAR_063755137L → Q in EDSMC1; associated in a complex allele with G-135; results in altered intracellular processing. 1 PublicationCorresponds to variant dbSNP:rs267606728EnsemblClinVar.1
Natural variantiVAR_063756213R → P in EDSMC1; results in altered intracellular processing. 1 PublicationCorresponds to variant dbSNP:rs121908257EnsemblClinVar.1
Natural variantiVAR_064555281P → L in EDSMC1; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs267606729EnsemblClinVar.1
Natural variantiVAR_064556289C → S in EDSMC1; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs267606731EnsemblClinVar.1
Natural variantiVAR_063757293Y → C in EDSMC1; results in altered intracellular processing; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs121908258EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Ehlers-Danlos syndrome

Organism-specific databases

DisGeNETi113189
MalaCardsiCHST14
MIMi601776 phenotype
OpenTargetsiENSG00000169105
Orphaneti2953 Ehlers-Danlos syndrome, musculocontractural type
PharmGKBiPA162382258

Polymorphism and mutation databases

BioMutaiCHST14
DMDMi61211839

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001896721 – 376Carbohydrate sulfotransferase 14Add BLAST376

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi110N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi368N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ8NCH0
MaxQBiQ8NCH0
PaxDbiQ8NCH0
PeptideAtlasiQ8NCH0
PRIDEiQ8NCH0
ProteomicsDBi72895

PTM databases

iPTMnetiQ8NCH0
PhosphoSitePlusiQ8NCH0

Expressioni

Tissue specificityi

Widely expressed. Expressed at high level in pituitary gland, placenta, uterus and thyroid.1 Publication

Gene expression databases

BgeeiENSG00000169105
CleanExiHS_CHST14
ExpressionAtlasiQ8NCH0 baseline and differential
GenevisibleiQ8NCH0 HS

Organism-specific databases

HPAiHPA057697
HPA071601

Interactioni

Protein-protein interaction databases

BioGridi125232, 6 interactors
STRINGi9606.ENSP00000307297

Structurei

3D structure databases

ProteinModelPortaliQ8NCH0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the sulfotransferase 2 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4651 Eukaryota
ENOG4111GJR LUCA
GeneTreeiENSGT00760000119214
HOGENOMiHOG000231801
HOVERGENiHBG050954
InParanoidiQ8NCH0
KOiK08105
OMAiRYRLQHY
OrthoDBiEOG091G0FZO
PhylomeDBiQ8NCH0
TreeFamiTF325581

Family and domain databases

InterProiView protein in InterPro
IPR018011 Carb_sulfotrans_8-10
IPR005331 Sulfotransferase
PANTHERiPTHR12137 PTHR12137, 1 hit
PfamiView protein in Pfam
PF03567 Sulfotransfer_2, 1 hit

Sequencei

Sequence statusi: Complete.

Q8NCH0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MFPRPLTPLA APNGAEPLGR ALRRAPLGRA RAGLGGPPLL LPSMLMFAVI
60 70 80 90 100
VASSGLLLMI ERGILAEMKP LPLHPPGREG TAWRGKAPKP GGLSLRAGDA
110 120 130 140 150
DLQVRQDVRN RTLRAVCGQP GMPRDPWDLP VGQRRTLLRH ILVSDRYRFL
160 170 180 190 200
YCYVPKVACS NWKRVMKVLA GVLDSVDVRL KMDHRSDLVF LADLRPEEIR
210 220 230 240 250
YRLQHYFKFL FVREPLERLL SAYRNKFGEI REYQQRYGAE IVRRYRAGAG
260 270 280 290 300
PSPAGDDVTF PEFLRYLVDE DPERMNEHWM PVYHLCQPCA VHYDFVGSYE
310 320 330 340 350
RLEADANQVL EWVRAPPHVR FPARQAWYRP ASPESLHYHL CSAPRALLQD
360 370
VLPKYILDFS LFAYPLPNVT KEACQQ
Length:376
Mass (Da):42,997
Last modified:March 15, 2005 - v2
Checksum:i53BF537979260188
GO

Sequence cautioni

The sequence AAQ88811 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti195R → L in BAC11172 (PubMed:14702039).Curated1
Sequence conflicti214E → D in BAC11172 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063754135R → G in EDSMC1; associated in a complex allele with Q-137; results in altered intracellular processing. 1 PublicationCorresponds to variant dbSNP:rs267606727EnsemblClinVar.1
Natural variantiVAR_063755137L → Q in EDSMC1; associated in a complex allele with G-135; results in altered intracellular processing. 1 PublicationCorresponds to variant dbSNP:rs267606728EnsemblClinVar.1
Natural variantiVAR_063756213R → P in EDSMC1; results in altered intracellular processing. 1 PublicationCorresponds to variant dbSNP:rs121908257EnsemblClinVar.1
Natural variantiVAR_064555281P → L in EDSMC1; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs267606729EnsemblClinVar.1
Natural variantiVAR_064556289C → S in EDSMC1; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs267606731EnsemblClinVar.1
Natural variantiVAR_063757293Y → C in EDSMC1; results in altered intracellular processing; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs121908258EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF401222 mRNA Translation: AAK92532.1
AB066595 mRNA Translation: BAB84097.1
AF282905 mRNA Translation: AAK69530.1
AK074739 mRNA Translation: BAC11172.1
BC023653 mRNA Translation: AAH23653.1
BC049214 mRNA Translation: AAH49214.1
BC053633 mRNA Translation: AAH53633.1
AY358446 mRNA Translation: AAQ88811.1 Different initiation.
CCDSiCCDS10059.1
RefSeqiNP_569735.1, NM_130468.3
UniGeneiHs.442449

Genome annotation databases

EnsembliENST00000306243; ENSP00000307297; ENSG00000169105
GeneIDi113189
KEGGihsa:113189
UCSCiuc001zlw.4 human

Similar proteinsi

Entry informationi

Entry nameiCHSTE_HUMAN
AccessioniPrimary (citable) accession number: Q8NCH0
Secondary accession number(s): Q6PJ31, Q6UXA0, Q96P94
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 15, 2005
Last sequence update: March 15, 2005
Last modified: June 20, 2018
This is version 126 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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