Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Csgalnact1provided by MGI
Official Full Name: chondroitin sulfate N-acetylgalactosaminyltransferase 1provided by MGI
Primary source: MGI:MGI:2442354
See related: Ensembl:ENSMUSG00000036356 AllianceGenome:MGI:2442354
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: CSGalNAcT-1; 4732435N03Rik
Summary: Enables glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity. Involved in chondroitin sulfate biosynthetic process. Acts upstream of or within chondroitin sulfate metabolic process; extracellular matrix organization; and skeletal system development. Is active in Golgi apparatus. Is expressed in several structures, including alimentary system; cartilage; limb; nervous system; and sensory organ. Orthologous to human CSGALNACT1 (chondroitin sulfate N-acetylgalactosaminyltransferase 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in limb E14.5 (RPKM 2.6), frontal lobe adult (RPKM 2.2) and 19 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 B3.3; 8 33.88 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (68809433..69188270, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (68356781..68735621, complement)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Chondroitin sulfate N-acetylgalactosyltransferase-1 knockout shows milder phenotype in experimental autoimmune encephalomyelitis than in wild type.
Title: Chondroitin sulfate N-acetylgalactosyltransferase-1 knockout shows milder phenotype in experimental autoimmune encephalomyelitis than in wild type.
CSGalNAcT1 plays important roles in connective tissue organization and following intramembranous ossification of the craniofacial skeleton.
Title: Craniofacial abnormality with skeletal dysplasia in mice lacking chondroitin sulfate N-acetylgalactosaminyltransferase-1.
Here, we show that initiation of ocular dominance plasticity was impaired with reduced CS, using mice lacking a key CS-synthesizing enzyme, CSGalNAcT1. Two-photon in vivo imaging showed a weaker visual response of PV-cells with reduced CS compared to wild-type mice. Plasticity onset was restored by a homeoprotein Otx2, which binds the major CS-proteoglycan aggrecan and promotes its further expression.
Title: Chondroitin Sulfate Is Required for Onset and Offset of Critical Period Plasticity in Visual Cortex.
CSGalNAcT1 is important for plasticity, probably due to regulation of chondroitin sulfate-dependent perineuronal nets.
Title: Abnormalities in perineuronal nets and behavior in mice lacking CSGalNAcT1, a key enzyme in chondroitin sulfate synthesis.
propose that both t1 and t2 are necessary for CS synthesis and normal chondrocyte differentiation but are not sufficient for all CS synthesis in cartilage
Title: Postnatal lethality and chondrodysplasia in mice lacking both chondroitin sulfate N-acetylgalactosaminyltransferase-1 and -2.
CSGalNAcT-1 is necessary for normal levels of endochondral ossification, and the decrease in CS amount in the growth plate by its absence causes a rapid catabolism of aggrecan.
Title: Chondroitin sulfate N-acetylgalactosaminyltransferase 1 is necessary for normal endochondral ossification and aggrecan metabolism.
Results suggest that CSGalNAcT1 is required for normal CS production in developing cartilage.
Title: Chondroitin sulfate N-acetylgalactosaminyltransferase-1 is required for normal cartilage development.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:532267

Csgalnact1 (e-PCR), detects polymorphism
- UniSTS:532267

D1S2012E (e-PCR)
- UniSTS:151359

NoName (e-PCR)
- UniSTS:235906

34.MMHAP86FLD4.seq (e-PCR)
- UniSTS:124113

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables acetylgalactosaminyltransferase activity	ISO Inferred from Sequence Orthology more info
enables acetylgalactosaminyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IGI Inferred from Genetic Interaction more info	PubMed
enables glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	ISO Inferred from Sequence Orthology more info
enables glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables glucuronosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables glucuronosyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	ISO Inferred from Sequence Orthology more info
enables glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables peptidoglycan glycosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables peptidoglycan glycosyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in UDP-N-acetylgalactosamine metabolic process	ISO Inferred from Sequence Orthology more info
involved_in UDP-N-acetylgalactosamine metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in UDP-glucuronate metabolic process	ISO Inferred from Sequence Orthology more info
involved_in UDP-glucuronate metabolic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within cartilage development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chondroitin sulfate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in chondroitin sulfate biosynthetic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in chondroitin sulfate biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chondroitin sulfate biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in chondroitin sulfate biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within chondroitin sulfate metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within endochondral ossification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within extracellular matrix organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi cisterna membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: chondroitin sulfate N-acetylgalactosaminyltransferase 1

Names: beta1,4 N-acetylgalactosaminyltransferase; beta4GalNAcT-1; chondroitin beta-1,4-N-acetylgalactosaminyltransferase 1

NP_001239552.1

EC 2.4.1.174

NP_001351185.1

EC 2.4.1.174

NP_766341.4

EC 2.4.1.174

XP_006509689.1

EC 2.4.1.174

XP_006509690.1

EC 2.4.1.174

XP_006509691.1

EC 2.4.1.174

XP_006509692.1

EC 2.4.1.174

XP_006509693.1

EC 2.4.1.174

XP_011240592.1

EC 2.4.1.174

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.

mRNA and Protein(s)

NM_001252623.1 → NP_001239552.1 chondroitin sulfate N-acetylgalactosaminyltransferase 1

See identical proteins and their annotated locations for NP_001239552.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC117740, AC123813, AC124427, AC129206, BY289912

Consensus CDS

CCDS22341.1

UniProtKB/Swiss-Prot

Q3UNQ5, Q3UZX6, Q5FWX8, Q8BJQ9, Q8BWV9, Q8BZU7, Q8C195, Q8R0M6

Related

ENSMUSP00000119817.2, ENSMUST00000130214.8

Conserved Domains (1) summary

cl11394
Location:144 → 505

Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
NM_001364256.1 → NP_001351185.1 chondroitin sulfate N-acetylgalactosaminyltransferase 1

Status: VALIDATED

Source sequence(s)

AC117740, AK049770, AK133567

Consensus CDS

CCDS22341.1

UniProtKB/Swiss-Prot

Q3UNQ5, Q3UZX6, Q5FWX8, Q8BJQ9, Q8BWV9, Q8BZU7, Q8C195, Q8R0M6

Conserved Domains (1) summary

cl11394
Location:144 → 505

Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
NM_172753.5 → NP_766341.4 chondroitin sulfate N-acetylgalactosaminyltransferase 1

See identical proteins and their annotated locations for NP_766341.4

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC117740, AK080687, BY289912

Consensus CDS

CCDS22341.1

UniProtKB/Swiss-Prot

Q3UNQ5, Q3UZX6, Q5FWX8, Q8BJQ9, Q8BWV9, Q8BZU7, Q8C195, Q8R0M6

Related

ENSMUSP00000077459.7, ENSMUST00000078350.13

Conserved Domains (1) summary

cl11394
Location:144 → 505

Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000074.7 Reference GRCm39 C57BL/6J

Range

68809433..69188270 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006509628.5 → XP_006509691.1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 isoform X1

See identical proteins and their annotated locations for XP_006509691.1

UniProtKB/Swiss-Prot

Q3UNQ5, Q3UZX6, Q5FWX8, Q8BJQ9, Q8BWV9, Q8BZU7, Q8C195, Q8R0M6

Conserved Domains (1) summary

cl11394
Location:144 → 505

Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
XM_006509627.5 → XP_006509690.1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 isoform X1

See identical proteins and their annotated locations for XP_006509690.1

UniProtKB/Swiss-Prot

Q3UNQ5, Q3UZX6, Q5FWX8, Q8BJQ9, Q8BWV9, Q8BZU7, Q8C195, Q8R0M6

Conserved Domains (1) summary

cl11394
Location:144 → 505

Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
XM_011242290.4 → XP_011240592.1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 isoform X1

See identical proteins and their annotated locations for XP_011240592.1

UniProtKB/Swiss-Prot

Q3UNQ5, Q3UZX6, Q5FWX8, Q8BJQ9, Q8BWV9, Q8BZU7, Q8C195, Q8R0M6

Conserved Domains (1) summary

cl11394
Location:144 → 505

Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
XM_006509626.3 → XP_006509689.1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 isoform X1

See identical proteins and their annotated locations for XP_006509689.1

UniProtKB/Swiss-Prot

Q3UNQ5, Q3UZX6, Q5FWX8, Q8BJQ9, Q8BWV9, Q8BZU7, Q8C195, Q8R0M6

Conserved Domains (1) summary

cl11394
Location:144 → 505

Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
XM_006509629.2 → XP_006509692.1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 isoform X1

See identical proteins and their annotated locations for XP_006509692.1

UniProtKB/Swiss-Prot

Q3UNQ5, Q3UZX6, Q5FWX8, Q8BJQ9, Q8BWV9, Q8BZU7, Q8C195, Q8R0M6

Conserved Domains (1) summary

cl11394
Location:144 → 505

Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
XM_006509630.5 → XP_006509693.1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 isoform X1

See identical proteins and their annotated locations for XP_006509693.1

UniProtKB/Swiss-Prot

Q3UNQ5, Q3UZX6, Q5FWX8, Q8BJQ9, Q8BWV9, Q8BZU7, Q8C195, Q8R0M6

Conserved Domains (1) summary

cl11394
Location:144 → 505

Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold