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Aliases for CSGALNACT1 Gene

Aliases for CSGALNACT1 Gene

  • Chondroitin Sulfate N-Acetylgalactosaminyltransferase 1 2 3 5
  • Glucuronylgalactosylproteoglycan 4-Beta-N- Acetylgalactosaminyltransferase 2 3
  • Chondroitin Beta-1,4-N-Acetylgalactosaminyltransferase 1 3 4
  • Chondroitin Beta1,4 N-Acetylgalactosaminyltransferase 2 3
  • Beta4GalNAcT-1 3 4
  • CSGalNAcT-1 3 4
  • ChGn 3 4
  • Beta4GalNAcT 3
  • EC 2.4.1.174 4
  • GALNACT1 4

External Ids for CSGALNACT1 Gene

Previous GeneCards Identifiers for CSGALNACT1 Gene

  • GC08M019306
  • GC08M017801

Summaries for CSGALNACT1 Gene

GeneCards Summary for CSGALNACT1 Gene

CSGALNACT1 (Chondroitin Sulfate N-Acetylgalactosaminyltransferase 1) is a Protein Coding gene. Diseases associated with CSGALNACT1 include bell's palsy. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include glucuronosyltransferase activity and glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity. An important paralog of this gene is B4GALNT4.

UniProtKB/Swiss-Prot for CSGALNACT1 Gene

  • Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of glucuronic acid (GlcUA). Required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains. Important role in chondroitin chain biosynthesis in cartilage formation and subsequent endochondral ossification (PubMed:11788602, PubMed:12163485, PubMed:12446672, PubMed:17145758). Moreover, is involved in the metabolism of aggrecan (By similarity).

Gene Wiki entry for CSGALNACT1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CSGALNACT1 Gene

Genomics for CSGALNACT1 Gene

Regulatory Elements for CSGALNACT1 Gene

Promoters for CSGALNACT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CSGALNACT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CSGALNACT1 Gene

Chromosome:
8
Start:
19,404,161 bp from pter
End:
19,758,029 bp from pter
Size:
353,869 bases
Orientation:
Minus strand

Genomic View for CSGALNACT1 Gene

Genes around CSGALNACT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CSGALNACT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CSGALNACT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CSGALNACT1 Gene

Proteins for CSGALNACT1 Gene

  • Protein details for CSGALNACT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDX6-CGAT1_HUMAN
    Recommended name:
    Chondroitin sulfate N-acetylgalactosaminyltransferase 1
    Protein Accession:
    Q8TDX6
    Secondary Accessions:
    • B2RBE4
    • Q6P9G6
    • Q8IUF9
    • Q9NSQ7
    • Q9NUM9

    Protein attributes for CSGALNACT1 Gene

    Size:
    532 amino acids
    Molecular mass:
    61294 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CSGALNACT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CSGALNACT1 Gene

Proteomics data for CSGALNACT1 Gene at MOPED

Post-translational modifications for CSGALNACT1 Gene

Antibody Products

No data available for DME Specific Peptides for CSGALNACT1 Gene

Domains & Families for CSGALNACT1 Gene

Gene Families for CSGALNACT1 Gene

Protein Domains for CSGALNACT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8TDX6

UniProtKB/Swiss-Prot:

CGAT1_HUMAN :
  • Belongs to the chondroitin N-acetylgalactosaminyltransferase family.
Family:
  • Belongs to the chondroitin N-acetylgalactosaminyltransferase family.
genes like me logo Genes that share domains with CSGALNACT1: view

Function for CSGALNACT1 Gene

Molecular function for CSGALNACT1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-D-galactosamine + beta-D-glucuronyl-(1->3)-D-galactosyl-proteoglycan = UDP + N-acetyl-D-galactosaminyl-(1->4)-beta-D-glucuronyl-(1->3)-beta-D-galactosylproteoglycan.
UniProtKB/Swiss-Prot Function:
Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of glucuronic acid (GlcUA). Required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains. Important role in chondroitin chain biosynthesis in cartilage formation and subsequent endochondral ossification (PubMed:11788602, PubMed:12163485, PubMed:12446672, PubMed:17145758). Moreover, is involved in the metabolism of aggrecan (By similarity).

Enzyme Numbers (IUBMB) for CSGALNACT1 Gene

Gene Ontology (GO) - Molecular Function for CSGALNACT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015020 glucuronosyltransferase activity IDA 11514575
GO:0047238 glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity IDA,TAS --
genes like me logo Genes that share ontologies with CSGALNACT1: view
genes like me logo Genes that share phenotypes with CSGALNACT1: view

Animal Models for CSGALNACT1 Gene

MGI Knock Outs for CSGALNACT1:

Animal Model Products

  • Taconic Biosciences Mouse Models for CSGALNACT1

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CSGALNACT1 Gene

Localization for CSGALNACT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSGALNACT1 Gene

Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CSGALNACT1 Gene COMPARTMENTS Subcellular localization image for CSGALNACT1 gene
Compartment Confidence
golgi apparatus 5
cytoskeleton 3
endoplasmic reticulum 2
extracellular 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for CSGALNACT1 Gene

Pathways & Interactions for CSGALNACT1 Gene

genes like me logo Genes that share pathways with CSGALNACT1: view

Interacting Proteins for CSGALNACT1 Gene

Gene Ontology (GO) - Biological Process for CSGALNACT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001958 endochondral ossification IEA --
GO:0005975 carbohydrate metabolic process TAS --
GO:0008037 cell recognition NAS 11514575
GO:0008283 cell proliferation NAS 11514575
GO:0019276 UDP-N-acetylgalactosamine metabolic process IDA 11514575
genes like me logo Genes that share ontologies with CSGALNACT1: view

No data available for SIGNOR curated interactions for CSGALNACT1 Gene

Drugs & Compounds for CSGALNACT1 Gene

(1) Drugs for CSGALNACT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine-5'-Diphosphate Experimental Pharma 0

(1) Additional Compounds for CSGALNACT1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Uridine diphosphate-N-acetylgalactosamine
  • UDP-N-Acetyl-D-galactosamine
  • UDP-N-Acetyl-delta-galactosamine
  • UDP-N-Acetylgalactosamine
  • Uridine 5'-diphospho-N-acetylgalactosamine
  • Uridine diphosphate-N-acetyl-D-galactosamine
7277-98-7
genes like me logo Genes that share compounds with CSGALNACT1: view

Transcripts for CSGALNACT1 Gene

Unigene Clusters for CSGALNACT1 Gene

Chondroitin sulfate N-acetylgalactosaminyltransferase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CSGALNACT1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c · 11d · 11e · 11f · 11g ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1: - - - - - -
SP2: - - -
SP3: - -
SP4: - - - - - - - - -
SP5: - - - - - - - -
SP6: - - - - - -
SP7: - - - - -
SP8: - - - -
SP9: - - -
SP10:

Relevant External Links for CSGALNACT1 Gene

GeneLoc Exon Structure for
CSGALNACT1
ECgene alternative splicing isoforms for
CSGALNACT1

Expression for CSGALNACT1 Gene

mRNA expression in normal human tissues for CSGALNACT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CSGALNACT1 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for CSGALNACT1 Gene



SOURCE GeneReport for Unigene cluster for CSGALNACT1 Gene Hs.613729

mRNA Expression by UniProt/SwissProt for CSGALNACT1 Gene

Q8TDX6-CGAT1_HUMAN
Tissue specificity: Ubiquitous, with the highest levels in placenta, thyroid, bladder, prostate and adrenal gland. Detected at low levels in the other tissues examined.
genes like me logo Genes that share expression patterns with CSGALNACT1: view

Protein tissue co-expression partners for CSGALNACT1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for CSGALNACT1 Gene

Orthologs for CSGALNACT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CSGALNACT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CSGALNACT1 36
  • 100 (a)
OneToOne
CSGALNACT1 35
  • 99.37 (n)
  • 99.62 (a)
cow
(Bos Taurus)
Mammalia CSGALNACT1 35
  • 82.25 (n)
  • 85.31 (a)
CSGALNACT1 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CSGALNACT1 36
  • 91 (a)
OneToOne
CSGALNACT1 35
  • 87.56 (n)
  • 91.1 (a)
mouse
(Mus musculus)
Mammalia Csgalnact1 16
Csgalnact1 36
  • 92 (a)
OneToOne
Csgalnact1 35
  • 85.69 (n)
  • 92.65 (a)
oppossum
(Monodelphis domestica)
Mammalia CSGALNACT1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CSGALNACT1 36
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Csgalnact1 35
  • 85.61 (n)
  • 91.33 (a)
chicken
(Gallus gallus)
Aves CSGALNACT1 35
  • 75.47 (n)
  • 79.96 (a)
CSGALNACT1 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CSGALNACT1 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia csgalnact1 35
  • 71.8 (n)
  • 80.73 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC793671 35
  • 68.65 (n)
  • 71.92 (a)
CSGALNACT1 (1 of 2) 36
  • 65 (a)
OneToMany
CSGALNACT1 (2 of 2) 36
  • 53 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007720 35
  • 50.85 (n)
  • 44.99 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12913 35
  • 51.84 (n)
  • 45.37 (a)
CG12913 36
  • 38 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6775 36
  • 37 (a)
OneToMany
Species with no ortholog for CSGALNACT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CSGALNACT1 Gene

ENSEMBL:
Gene Tree for CSGALNACT1 (if available)
TreeFam:
Gene Tree for CSGALNACT1 (if available)

Paralogs for CSGALNACT1 Gene

Paralogs for CSGALNACT1 Gene

(2) SIMAP similar genes for CSGALNACT1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with CSGALNACT1: view

Variants for CSGALNACT1 Gene

Sequence variations from dbSNP and Humsavar for CSGALNACT1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs954720 -- 19,721,340(+) TAGAA(A/G)GATTC intron-variant
rs958416 -- 19,673,472(-) AGTGC(A/C/T)TAGCA intron-variant
rs1107613 -- 19,732,195(-) ACAAC(C/T)GTTAT intron-variant
rs1021435 -- 19,719,756(-) GAATG(C/T)AGGCA intron-variant
rs1021436 -- 19,719,372(-) ATATC(A/G)GCATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CSGALNACT1 Gene

Variant ID Type Subtype PubMed ID
dgv7748n71 CNV Gain 21882294
nsv522185 CNV Gain 19592680
nsv890622 CNV Gain 21882294
esv34007 CNV Loss 18971310
esv2661905 CNV Deletion 23128226
nsv890623 CNV Gain 21882294
esv2736721 CNV Deletion 23290073
esv2736722 CNV Deletion 23290073
esv2736723 CNV Deletion 23290073
esv27125 CNV Loss 19812545
esv3485 CNV Deletion 18987735
nsv512944 CNV Insertion 21212237
nsv890624 CNV Loss 21882294
esv2736724 CNV Deletion 23290073
esv2736725 CNV Deletion 23290073
esv2736726 CNV Deletion 23290073
esv998128 CNV Deletion 20482838
esv1000464 CNV Deletion 20482838
esv1429388 CNV Deletion 17803354
nsv396275 CNV Loss 16902084
nsv6104 CNV Insertion 18451855
nsv890625 CNV Gain 21882294
esv24822 CNV Loss 19812545
nsv890626 CNV Gain 21882294
esv267971 CNV Insertion 20981092
nsv890627 CNV Gain 21882294
nsv525772 CNV Loss 19592680
nsv465601 CNV Loss 19166990
nsv6105 CNV Insertion 18451855
nsv527023 CNV Loss 19592680
nsv6106 CNV Loss 18451855
nsv527615 CNV Loss 19592680
esv2481095 CNV Deletion 19546169
esv2405754 CNV Deletion 18987734
esv2736727 CNV Deletion 23290073
esv2736728 CNV Deletion 23290073
nsv890628 CNV Loss 21882294
esv2656596 CNV Deletion 23128226
dgv880n27 CNV Loss 19166990
nsv470203 CNV Loss 18288195

Variation tolerance for CSGALNACT1 Gene

Residual Variation Intolerance Score: 68% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.24; 62.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CSGALNACT1 Gene

HapMap Linkage Disequilibrium report
CSGALNACT1
Human Gene Mutation Database (HGMD)
CSGALNACT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CSGALNACT1 Gene

Disorders for CSGALNACT1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CSGALNACT1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
bell's palsy
  • bell palsy
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CSGALNACT1

Genetic Association Database (GAD)
CSGALNACT1
Human Genome Epidemiology (HuGE) Navigator
CSGALNACT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CSGALNACT1
genes like me logo Genes that share disorders with CSGALNACT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CSGALNACT1 Gene

Publications for CSGALNACT1 Gene

  1. Chondroitin sulfate N-acetylgalactosaminyltransferase-1 plays a critical role in chondroitin sulfate synthesis in cartilage. (PMID: 17145758) Sakai K. … Watanabe H. (J. Biol. Chem. 2007) 2 3 4 67
  2. Differential roles of two N-acetylgalactosaminyltransferases, CSGalNAcT-1, and a novel enzyme, CSGalNAcT-2. Initiation and elongation in synthesis of chondroitin sulfate. (PMID: 12446672) Sato T. … Narimatsu H. (J. Biol. Chem. 2003) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. (PMID: 25201988) Rietveld C.A. … Koellinger P.D. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3
  5. Abnormal expression of chondroitin sulphate N-acetylgalactosaminyltransferase 1 and Hapln-1 in cartilage with Kashin-Beck disease and primary osteoarthritis. (PMID: 23748413) Zheng J. … Guo X. (Int Orthop 2013) 3

Products for CSGALNACT1 Gene

Sources for CSGALNACT1 Gene

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