CHST14

Protein identityUniProt · HPA

UniProt accession

Q8NCH0

Gene

CHST14

Ensembl

ENSG00000169105

Chromosome

15

Canonical length

376 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins

Subcellular location

Golgi apparatus

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

376 residues, UniProt reviewed canonical sequence.

>Q8NCH0|CHST14
     1  MFPRPLTPLA APNGAEPLGR ALRRAPLGRA RAGLGGPPLL LPSMLMFAVI VASSGLLLMI
    61  ERGILAEMKP LPLHPPGREG TAWRGKAPKP GGLSLRAGDA DLQVRQDVRN RTLRAVCGQP
   121  GMPRDPWDLP VGQRRTLLRH ILVSDRYRFL YCYVPKVACS NWKRVMKVLA GVLDSVDVRL
   181  KMDHRSDLVF LADLRPEEIR YRLQHYFKFL FVREPLERLL SAYRNKFGEI REYQQRYGAE
   241  IVRRYRAGAG PSPAGDDVTF PEFLRYLVDE DPERMNEHWM PVYHLCQPCA VHYDFVGSYE
   301  RLEADANQVL EWVRAPPHVR FPARQAWYRP ASPESLHYHL CSAPRALLQD VLPKYILDFS
   361  LFAYPLPNVT KEACQQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CHST14 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.37

Highest tissue expression

25 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CHST14.

Disease | AllUniProt

Conditions CHST14 is implicated in, by any mechanism.

• Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) MIM:601776

Disease | GeneticClinVar

37 pathogenic / likely-pathogenic of 431 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Ehlers-Danlos syndrome, musculocontractural type
• Ehlers-Danlos syndrome, musculocontractural type 1
• Cardiovascular phenotype
• CHST14-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.64

gnomAD pLI

0.45

gnomAD missense Z

0.68

DepMap mean gene effect

-0.05

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• carbohydrate biosynthetic process
• dermatan sulfate proteoglycan biosynthetic process
• dermatan sulfate proteoglycan metabolic process

Molecular functions

• dermatan 4-sulfotransferase activity
• phosphate ion binding
• sulfotransferase activity

Cellular components

• extracellular exosome
• Golgi membrane
• membrane

Protein domainsUniProt · Pfam · InterPro

• Sulfotransferase
• Carbohydrate sulfotransferase 8-10
• Sulfotransferase family

KeywordsUniProt

• Carbohydrate metabolism
• Ehlers-Danlos syndrome
• Glycoprotein
• Golgi apparatus
• Membrane
• Signal-anchor
• Transferase
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of CHST14 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CANX