CHST14 carbohydrate sulfotransferase 14 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CHST14provided by HGNC
Official Full Name: carbohydrate sulfotransferase 14provided by HGNC
Primary source: HGNC:HGNC:24464
See related: Ensembl:ENSG00000169105 MIM:608429; AllianceGenome:HGNC:24464
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ATCS; D4ST1; EDSMC1; HNK1ST
Summary: 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]
Orthologs: mouse all
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Genomic context

Location:: 15q15.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (40470984..40473158)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (38278334..38280508)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (40763183..40765357)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
Title: Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency.
Title: Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency.
Patients with musculocontractural Ehlers-Danlos syndrome-CHST14 are susceptible to develop scoliosis, thoracolumbar kyphosis.
Title: Spinal manifestations in 12 patients with musculocontractural Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS-CHST14).
DS-epi1, DS-epi2, and D4ST1 form homomers and are all part of a hetero-oligomeric complex where D4ST1 directly interacts with DS-epi1, but not with DS-epi2. The cooperation of DS-epi1 with D4ST1 may therefore explain the processive mode of the formation of iduronic acid blocks.
Title: Dermatan sulfate epimerase 1 and dermatan 4-O-sulfotransferase 1 form complexes that generate long epimerized 4-O-sulfated blocks.
Dermatan sulfate does not appear in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency.
Title: Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency.
patients with CHST14/D4ST1 deficiency develop progressive multisystem fragility-related manifestations, establishment of a comprehensive and detailed natural history and health-care guidelines as well as further elucidation of the pathophysiology in view of future etiology-based therapy are crucial
Title: CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.
CHST14 gene mutations are associated with musculocontractural type of Ehlers-Danlos syndrome.
Title: The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.
We report on the detailed clinical characterization of two sisters with musculocontractural Ehlers-Danlos syndrome caused by a homozygous mutation in the CHST14 gene.
Title: Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.
Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient adducted thumb-clubfoot syndrome".
Title: Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient adducted thumb-clubfoot syndrome".
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.
Title: 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.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ehlers-Danlos syndrome, musculocontractural type 1 MedGen: CN295219 OMIM: 601776 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 (CHST14) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables dermatan 4-sulfotransferase	IDA Inferred from Direct Assay more info	PubMed
enables dermatan 4-sulfotransferase	TAS Traceable Author Statement more info
enables phosphate ion binding	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sulfotransferase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in carbohydrate biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within dermatan sulfate biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in dermatan sulfate biosynthetic process	TAS Traceable Author Statement more info
involved_in dermatan sulfate proteoglycan metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in dermatan sulfate proteoglycan metabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: carbohydrate sulfotransferase 14

Names: carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14; carbohydrate (dermatan 4) sulfotransferase 14; dermatan 4 sulfotransferase 1

NP_569735.1

EC 2.8.2.35

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.