Chst14 carbohydrate sulfotransferase 14 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Chst14provided by MGI
Official Full Name: carbohydrate sulfotransferase 14provided by MGI
Primary source: MGI:MGI:1919386
See related: Ensembl:ENSMUSG00000074916 AllianceGenome:MGI:1919386
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: D4st1; D4ST-1; 2600016L03Rik
Summary: Predicted to enable N-acetylgalactosamine 4-O-sulfotransferase activity. Predicted to be involved in dermatan sulfate proteoglycan metabolic process. Predicted to act upstream of or within dermatan sulfate biosynthetic process. Predicted to be located in Golgi membrane. Is expressed in several structures, including brain; liver; and retina. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome musculocontractural type 1. Orthologous to human CHST14 (carbohydrate sulfotransferase 14). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: human all
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Genomic context

Location:: 2 E5; 2 59.73 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (118756978..118759066)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (118926497..118928585)

Chromosome 2 - NC_000068.8 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?

Systematic investigation of the skin in Chst14-/- mice: A model for skin fragility in musculocontractural Ehlers-Danlos syndrome caused by CHST14 variants (mcEDS-CHST14).
Title: Systematic investigation of the skin in Chst14-/- mice: A model for skin fragility in musculocontractural Ehlers-Danlos syndrome caused by CHST14 variants (mcEDS-CHST14).
Chst14 is essential for placental vascular development and perinatal survival of fetuses.
Title: Vascular abnormalities in the placenta of Chst14-/- fetuses: implications in the pathophysiology of perinatal lethality of the murine model and vascular lesions in human CHST14/D4ST1 deficiency.
Deficiency for Chst14 results in decreased neurogenesis and diminished proliferation of neural stem cells.
Title: Dermatan sulfotransferase Chst14/D4st1, but not chondroitin sulfotransferase Chst11/C4st1, regulates proliferation and neurogenesis of neural progenitor cells.
analysis of the three CS sulfotransferases in the developing neocortex: uronyl 2-O-sulfotransferase (UST), N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase (4,6-ST) and dermatan 4-O-sulfotransferase-1 (D4-ST)
Title: Oversulfated chondroitin sulfate plays critical roles in the neuronal migration in the cerebral cortex.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (6)
Targeted (2) 1 citation

General gene information

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Markers

Chst14 (e-PCR), detects polymorphism
- UniSTS:516435

NoName (e-PCR)
- UniSTS:234495

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables dermatan 4-sulfotransferase	ISO Inferred from Sequence Orthology more info
enables dermatan 4-sulfotransferase	ISS Inferred from Sequence or Structural Similarity more info
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	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
involved_in dermatan sulfate proteoglycan metabolic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: carbohydrate sulfotransferase 14

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

NP_082393.3

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.