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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 Desbuquois Dysplasia 1. Among its related pathways are Metabolism and Chondroitin sulfate/dermatan sulfate 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 CSGALNACT2.

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

Enhancers for CSGALNACT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F019455 1.6 FANTOM5 Ensembl ENCODE 43.1 +298.9 298851 7.0 ATF1 MLX ARID4B SIN3A DMAP1 ZNF48 YY1 SLC30A9 GLIS2 SP3 CSGALNACT1 INTS10 LOC102724881 LOC105379308
GH08F019692 1.4 FANTOM5 Ensembl ENCODE 45.1 +61.3 61288 8.3 CTCF ZNF146 TBL1XR1 MAX ZBTB40 RELA SCRT2 EED ETV6 CREM CSGALNACT1 INTS10 SH2D4A ENSG00000253270
GH08F019408 1.5 FANTOM5 Ensembl ENCODE 34 +348.9 348918 2.2 ELF3 ATF1 SIN3A ZNF2 THRB RAD21 ZNF48 ZNF335 ZNF366 CREM CSGALNACT1 INTS10 SH2D4A LOC102724881 LOC105379308
GH08F019715 1.3 FANTOM5 Ensembl ENCODE 38.4 +39.5 39473 5.5 ESRRA TAF1 JUN MAX SIN3A RFX5 FOSL1 RCOR1 FOS DEK CSGALNACT1 INTS10 SH2D4A ENSG00000253270
GH08F019473 1.2 FANTOM5 Ensembl ENCODE 31.5 +282.8 282760 4.5 MTA2 HLF ZNF341 FOS YY1 CSGALNACT1 LOC105379308 LOC102724881
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CSGALNACT1 on UCSC Golden Path with GeneCards custom track

Promoters for CSGALNACT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001387148 829 2001 SIN3A FEZF1 ZNF2 GLIS2 ZNF263 JUNB TBX21 SSRP1 GLIS1 ETV4

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

Post-translational modifications for CSGALNACT1 Gene

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:0008376 acetylgalactosaminyltransferase activity ISS 11788602
GO:0008955 peptidoglycan glycosyltransferase activity IDA 11514575
GO:0015020 glucuronosyltransferase activity IDA 11514575
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding NAS 12163485
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

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CSGALNACT1 gene
Compartment Confidence
golgi apparatus 5
cytoskeleton 3
extracellular 2
endoplasmic reticulum 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CSGALNACT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005622 intracellular IC 12163485
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CSGALNACT1: view

Pathways & Interactions for CSGALNACT1 Gene

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

Interacting Proteins for CSGALNACT1 Gene

Selected Interacting proteins: Q8TDX6-CGAT1_HUMAN for CSGALNACT1 Gene via IID

Gene Ontology (GO) - Biological Process for CSGALNACT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001958 endochondral ossification IEA --
GO:0007399 nervous system development NAS 11514575
GO:0008037 cell recognition NAS 11514575
GO:0008283 cell proliferation NAS 11514575
GO:0009653 anatomical structure morphogenesis NAS 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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for CSGALNACT1 Gene



Protein tissue co-expression partners for CSGALNACT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CSGALNACT1 Gene:

CSGALNACT1

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

Primer 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 34 35
  • 99.37 (n)
oppossum
(Monodelphis domestica)
Mammalia CSGALNACT1 35
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CSGALNACT1 35
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CSGALNACT1 34 35
  • 87.56 (n)
mouse
(Mus musculus)
Mammalia Csgalnact1 34 16 35
  • 85.69 (n)
rat
(Rattus norvegicus)
Mammalia Csgalnact1 34
  • 85.61 (n)
cow
(Bos Taurus)
Mammalia CSGALNACT1 34 35
  • 82.25 (n)
chicken
(Gallus gallus)
Aves CSGALNACT1 34 35
  • 75.47 (n)
lizard
(Anolis carolinensis)
Reptilia CSGALNACT1 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia csgalnact1 34
  • 71.8 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC793671 34
  • 68.65 (n)
CSGALNACT1 (1 of 2) 35
  • 65 (a)
OneToMany
CSGALNACT1 (2 of 2) 35
  • 53 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG12913 34 35
  • 51.84 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007720 34
  • 50.85 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6775 35
  • 37 (a)
OneToMany
Species where no ortholog for CSGALNACT1 was found in the sources mined by GeneCards:
  • 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
rs10085966 -- 19,718,937(+) ACATA(C/T)GCCCT intron-variant
rs10086135 -- 19,652,335(+) ACCAA(G/T)ATCAA intron-variant
rs10086184 -- 19,636,674(+) GGTAG(C/T)GCTGT intron-variant
rs10086446 -- 19,676,746(+) ccact(A/G)tttag intron-variant
rs10086448 -- 19,476,232(+) CCCCA(C/G)TTTTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv958478 CNV deletion 24416366
nsv610756 CNV loss 21841781
nsv610755 CNV loss 21841781
nsv610754 CNV loss 21841781
nsv610753 CNV loss 21841781
nsv610752 CNV loss 21841781
nsv610751 CNV loss 21841781
nsv6106 CNV deletion 18451855
nsv6105 CNV insertion 18451855
nsv6104 CNV insertion 18451855
nsv527615 CNV loss 19592680
nsv527023 CNV loss 19592680
nsv525772 CNV loss 19592680
nsv522185 CNV gain 19592680
nsv512944 CNV insertion 21212237
nsv470203 CNV loss 18288195
nsv465601 CNV loss 19166990
nsv396275 CNV deletion 16902084
nsv1136001 CNV deletion 24896259
nsv1118046 CNV deletion 24896259
nsv1115075 CNV deletion 24896259
nsv1077025 CNV deletion 25765185
nsv1025271 CNV loss 25217958
nsv1024012 CNV gain 25217958
nsv1022344 CNV loss 25217958
nsv1021731 CNV loss 25217958
nsv1016482 CNV gain 25217958
nsv1015448 CNV gain 25217958
esv998128 CNV deletion 20482838
esv3891371 CNV gain 25118596
esv3616547 CNV loss 21293372
esv3616545 CNV loss 21293372
esv3616543 CNV loss 21293372
esv3616542 CNV loss 21293372
esv3616532 CNV gain 21293372
esv3543180 CNV deletion 23714750
esv3485 CNV loss 18987735
esv34007 CNV loss 18971310
esv3352899 CNV insertion 20981092
esv2736728 CNV deletion 23290073
esv2736727 CNV deletion 23290073
esv2736726 CNV deletion 23290073
esv2736725 CNV deletion 23290073
esv2736724 CNV deletion 23290073
esv2736723 CNV deletion 23290073
esv2736722 CNV deletion 23290073
esv2736721 CNV deletion 23290073
esv27125 CNV loss 19812545
esv2661905 CNV deletion 23128226
esv2656596 CNV deletion 23128226
esv24822 CNV loss 19812545
esv2481095 CNV deletion 19546169
esv2405754 CNV deletion 18987734
esv1429388 CNV deletion 17803354
esv1000464 CNV deletion 20482838
dgv880n27 CNV loss 19166990
dgv7130n100 CNV loss 25217958
dgv1387e214 CNV gain 21293372
dgv12053n54 CNV loss 21841781

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

Human Gene Mutation Database (HGMD)
CSGALNACT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
desbuquois dysplasia 1
  • desbuquois dysplasia
- 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 64
  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 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors. (PMID: 19730683) Landa I. … Robledo M. (PLoS Genet. 2009) 3 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for CSGALNACT1 Gene

Sources for CSGALNACT1 Gene

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