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This gene encodes an enzyme that transfers N-acetylglucosamine (GalNAc) to the core tetrasaccharide linker and to elongating chondroitin sulfate chains in proteoglycans. Knockout of the orthologous mouse gene indicates that the protein is necessary for normal cartilage development and aggrecan metabolism. Mutations in this gene are associated with multiple sclerosis progression... See more...
Aliases for CSGALNACT1 Gene
Aliases for CSGALNACT1 Gene
- Chondroitin Sulfate N-Acetylgalactosaminyltransferase 1 2 3 4 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 2 3
- ChGn 2 3
- Beta4GalNAcT 3
External Ids for CSGALNACT1 Gene
- HGNC: 24290
- NCBI Entrez Gene: 55790
- Ensembl: ENSG00000147408
- OMIM®: 616615
- UniProtKB/Swiss-Prot: Q8TDX6
Previous GeneCards Identifiers for CSGALNACT1 Gene
- GC08M019306
- GC08M017801
Summaries for CSGALNACT1 Gene
-
This gene encodes an enzyme that transfers N-acetylglucosamine (GalNAc) to the core tetrasaccharide linker and to elongating chondroitin sulfate chains in proteoglycans. Knockout of the orthologous mouse gene indicates that the protein is necessary for normal cartilage development and aggrecan metabolism. Mutations in this gene are associated with multiple sclerosis progression, and with mild skeletal dysplasia and joint laxity. [provided by RefSeq, Aug 2017]
GeneCards Summary for CSGALNACT1 Gene
CSGALNACT1 (Chondroitin Sulfate N-Acetylgalactosaminyltransferase 1) is a Protein Coding gene. Diseases associated with CSGALNACT1 include Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age and Breast Pericanalicular Fibroadenoma. Among its related pathways are Chondroitin sulfate/dermatan sulfate metabolism and Glycosaminoglycan metabolism. Gene Ontology (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 Summary 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).
Additional gene information for CSGALNACT1 Gene
- HGNC (24290)
- NCBI Entrez Gene (55790)
- Ensembl (ENSG00000147408)
- OMIM® (616615)
- UniProtKB/Swiss-Prot (Q8TDX6)
- Open Targets Platform(ENSG00000147408)
- Search for CSGALNACT1 at DataMed
- Search for CSGALNACT1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CSGALNACT1 Gene
Genomics for CSGALNACT1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CSGALNACT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CSGALNACT1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CSGALNACT1
- Top Transcription factor binding sites by QIAGEN in the CSGALNACT1 gene promoter:
-
- Evi-1
- FOXJ2
- FOXJ2 (long isoform)
- NF-1
- POU6F1 (c2)
- TBP
Genomic Locations for CSGALNACT1 Gene
Latest Assembly
- chr8:19,404,161-19,758,029
- (GRCh38/hg38)
- Size:
- 353,869 bases
- Orientation:
- Minus strand
Previous Assembly
- chr8:19,261,672-19,615,419
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 353,748 bases
- Orientation:
- Minus strand
- chr8:19,261,672-19,615,540
- (GRCh37/hg19 by Ensembl)
- 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:
-
- 8p21.3 by HGNC
- 8p21.3 by Entrez Gene
- 8p21.3 by Ensembl
CSGALNACT1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- B2RBE4
- Q6P9G6
- Q8IUF9
- Q9NSQ7
- Q9NUM9
Protein attributes for CSGALNACT1 Gene
- Size:
- 532 amino acids
- Molecular mass:
- 61294 Da
- Quaternary structure:
- No Data Available
Protein Expression for CSGALNACT1 Gene
Post-translational modifications for CSGALNACT1 Gene
- N-glycosylated.
-
Glycosylation at Asn315 and Asn324
- NX_Q8TDX6 (NX_Q8TDX6-1)
- Modification sites at PhosphoSitePlus
Other Protein References for CSGALNACT1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_006716423.1
- XP_006716426.1
- XP_006716427.1
- XP_011542880.1
- XP_011542881.1
- XP_011542885.1
- XP_011542886.1
- XP_011542887.1
- XP_016869112.1
- XP_016869113.1
- XP_016869114.1
- XP_016869116.1
- XP_016869117.1
- XP_016869118.1
- XP_016869127.1
- XP_024302958.1
- XP_024302959.1
- XP_024302960.1
- XP_024302961.1
- XP_024302962.1
- XP_024302963.1
- NP_001123990.1
- NP_001341404.1
- NP_001341405.1
- NP_001341406.1
- NP_001341409.1
- NP_001341410.1
- NP_001341412.1
- NP_001341413.1
- NP_001341414.1
- NP_001341416.1
- NP_001341417.1
- NP_001341418.1
- NP_001341419.1
- NP_001341420.1
- NP_001341421.1
- NP_001341423.1
- NP_001341424.1
- NP_001341425.1
- NP_001341426.1
- NP_001341427.1
- NP_001341428.1
- NP_060841.5
Antibodies for research
- G Biosciences Immunotag™ CSGALNACT1 Antibody
- Novus Biologicals Antibodies for CSGALNACT1
-
Abcam antibodies for CSGALNACT1
- Invitrogen Antibodies for CSGALNACT1 (AFLGC-CSGALNACT1)
- antibodies-online: Show 20 available CSGALNACT1 Antibodies ranked by validation data
- Compare Top CSGALNACT1 Antibodies
-
Recommended
- 46 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 1 IHC Antibody (anti-human)
- 21 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 4 IHC (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 12 IF (p) Antibodies (anti-rat)
- 7 WB Antibodies (anti-rat)
- 4 IHC (p) Antibodies (anti-rat)
-
Boster Bio Antibodies for CSGALNACT1
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CSGALNACT1
- Origene Custom Protein Services for CSGALNACT1
-
Abcam proteins for CSGALNACT1
Assay products for research
- antibodies-online: Show 4 available CSGALNACT1 Elisa Kits ranked by validation data
- Compare Top CSGALNACT1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for CSGALNACT1 Gene
Domains & Families for CSGALNACT1 Gene
Gene Families for CSGALNACT1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Protein Domains for CSGALNACT1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CSGALNACT1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ30592 fis, clone BRAWH2008706, highly similar to Chondroitinbeta-1,4-N-acetylgalactosaminyltransferase 1 (EC 2.4.1.174) (B3KNW4_HUMAN)
- Chondroitin beta-1,4-N-acetylgalactosaminyltransferase 1 (CGAT1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8TDX6UniProtKB/Swiss-Prot:
CGAT1_HUMAN :- Belongs to the chondroitin N-acetylgalactosaminyltransferase family.
- Family:
-
- Belongs to the chondroitin N-acetylgalactosaminyltransferase family.
Function for CSGALNACT1 Gene
Molecular function for CSGALNACT1 Gene
- 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).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = 3-O-(beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:23464, Rhea:RHEA-COMP:12573, Rhea:RHEA-COMP:12575, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138, ChEBI:CHEBI:132093, ChEBI:CHEBI:132105; EC=2.4.1.174; Evidence={ECO:0000269|PubMed:21160489, ECO:0000269|PubMed:27599773};.
Enzyme Numbers (IUBMB) for CSGALNACT1 Gene
Phenotypes From GWAS Catalog for CSGALNACT1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | -- |
| GO:0008376 | acetylgalactosaminyltransferase activity | ISS | 11788602 |
| GO:0008955 | peptidoglycan glycosyltransferase activity | IDA | 11514575 |
| GO:0015020 | glucuronosyltransferase activity | IDA | 11514575 |
| GO:0016740 | transferase activity | IEA | -- |
Phenotypes for CSGALNACT1 Gene
- MGI mutant phenotypes for CSGALNACT1:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for CSGALNACT1:
-
- Increased gamma-H2AX phosphorylation
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased vaccinia virus (VACV) infection
- Decreased viability
- Decreased NF-kappaB reporter expression
- Decreased viability in ovarian lineage
- Decreased shRNA abundance (Z-score < -2)
- Increased hepcidin::fluc mRNA expression
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Increased shRNA abundance (Z-score > 2)
- Increased IL-10 protein expression
Animal Models for CSGALNACT1 Gene
- MGI Knock Outs for CSGALNACT1:
-
- Csgalnact1 Csgalnact1<tm1.1Nari>
- Csgalnact1 Csgalnact1<tm1.1Migar>
- Csgalnact1 Csgalnact1<tm1Lex>
Animal Models for research
-
Taconic Biosciences Mouse Models for CSGALNACT1
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CSGALNACT1 - Starting at $85 >
- * CSGALNACT1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CSGALNACT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CSGALNACT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CSGALNACT1
miRNA for CSGALNACT1 Gene
- miRTarBase miRNAs that target CSGALNACT1
-
- hsa-miR-335-5p (MIRT017694)
- hsa-miR-124-3p (MIRT022557)
- hsa-miR-126-5p (MIRT045696)
- hsa-miR-16-5p (MIRT051118)
- hsa-miR-1238-3p (MIRT538321)
- hsa-miR-670-3p (MIRT538322)
- hsa-miR-6749-3p (MIRT538323)
- hsa-miR-6792-3p (MIRT538324)
- hsa-miR-4691-5p (MIRT538325)
- hsa-miR-124-5p (MIRT538326)
- hsa-miR-616-3p (MIRT538327)
- hsa-miR-627-3p (MIRT538328)
- hsa-miR-3925-3p (MIRT538329)
- hsa-miR-1825 (MIRT538330)
- hsa-miR-153-5p (MIRT538331)
- hsa-miR-1250-3p (MIRT538332)
- hsa-miR-4255 (MIRT538333)
- hsa-miR-199a-5p (MIRT538334)
- hsa-miR-199b-5p (MIRT538335)
- hsa-miR-765 (MIRT720886)
- hsa-miR-3663-3p (MIRT720887)
- hsa-miR-4786-3p (MIRT720888)
- hsa-miR-665 (MIRT720889)
- hsa-miR-4459 (MIRT720890)
- hsa-miR-3620-3p (MIRT720891)
- hsa-miR-6871-3p (MIRT720892)
- hsa-miR-10b-5p (MIRT720893)
- hsa-miR-10a-5p (MIRT720894)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CSGALNACT1
- Browse OriGene Inhibitory RNA Products For CSGALNACT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CSGALNACT1
Clone products for research
- Applied Biological Materials (abm): Clones for CSGALNACT1 - Starting at $45 >
- * CSGALNACT1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for CSGALNACT1
- Addgene plasmids for CSGALNACT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CSGALNACT1
Cell Lines for research
-
Horizon Cell Lines for CSGALNACT1
No data available for 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.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| cytoskeleton | 3 |
| extracellular | 2 |
| endoplasmic reticulum | 2 |
| plasma membrane | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| cytosol | 1 |
| lysosome | 1 |
- Cytosol (2)
- Golgi apparatus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005794 | Golgi apparatus | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0030173 | integral component of Golgi membrane | NAS | 11514575 |
Pathways & Interactions for CSGALNACT1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Chondroitin sulfate/dermatan sulfate metabolism | ||
| 2 | Glycosaminoglycan metabolism | ||
| 3 | Metabolism |
.40
|
|
Pathways by source for CSGALNACT1 Gene
3 BioSystems pathways for CSGALNACT1 Gene
5 Reactome pathways for CSGALNACT1 Gene
2 KEGG pathways for CSGALNACT1 Gene
Interacting Proteins for CSGALNACT1 Gene
Selected Interacting proteins:
Q8TDX6-CGAT1_HUMAN
ENSP00000411816
for CSGALNACT1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for CSGALNACT1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001958 | endochondral ossification | IEA | -- |
| GO:0015014 | heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process | NAS | 11514575 |
| GO:0019276 | UDP-N-acetylgalactosamine metabolic process | IDA | 11514575 |
| GO:0030166 | proteoglycan biosynthetic process | ISS | 11788602 |
| GO:0030198 | extracellular matrix organization | IEA | -- |
No data available for SIGNOR curated interactions for CSGALNACT1 Gene
Drugs & Compounds for CSGALNACT1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Uridine 5'-diphosphate | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Uridine diphosphate-N-acetylgalactosamine |
|
7277-98-7 |
|
Transcripts for CSGALNACT1 Gene
mRNA/cDNA for CSGALNACT1 Gene
- 22 REFSEQ mRNAs :
- 19 NCBI additional mRNA sequence :
- 16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000332246 3872 nts (view in UCSC)
- ENST00000397998 3962 nts (view in UCSC)
- ENST00000454498 4232 nts (view in UCSC)
- ENST00000517494 766 nts (view in UCSC)
- ENST00000517651 582 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CSGALNACT1 - Starting at $85 >
- * CSGALNACT1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CSGALNACT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CSGALNACT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CSGALNACT1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CSGALNACT1
- Browse OriGene Inhibitory RNA Products For CSGALNACT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CSGALNACT1
Clone products for research
- Applied Biological Materials (abm): Clones for CSGALNACT1 - Starting at $45 >
- * CSGALNACT1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for CSGALNACT1
- Addgene plasmids for CSGALNACT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CSGALNACT1
| 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
Expression for CSGALNACT1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Oligodendrocyte Precursor Cells Forebrain White Matter
- Striatum
- Cerebral Cortex
-
Eye (Sensory Organs)
- GABAergic Amacrine Cells Inner Nuclear Layer
- Lens
-
Ovary (Reproductive System)
- Pre-Granulosa Cells Primordial Follicle
-
Neurons
- GABAergic Amacrine Cells Inner Nuclear Layer
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
- Neural Tube (Nervous System)
- Dermis (Integumentary System)
- Fibroblasts
- Lateral Plate Mesoderm (Gastrulation Derivatives)
- Neural Crest (Gastrulation Derivatives)
-
Thyroid (Endocrine System)
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CSGALNACT1
SOURCE GeneReport for Unigene cluster for CSGALNACT1 Gene:
Hs.613729mRNA 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.
Evidence on tissue expression from TISSUES for CSGALNACT1 Gene
- Nervous system(4.8)
Primer products for research
-
OriGene qPCR primer pairs for CSGALNACT1
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CSGALNACT1 Gene
Orthologs for CSGALNACT1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CSGALNACT1 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | CSGALNACT1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CSGALNACT1 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CSGALNACT1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Csgalnact1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Csgalnact1 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | CSGALNACT1 30 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CSGALNACT1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CSGALNACT1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | csgalnact1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC793671 30 |
|
||
| CSGALNACT1 (1 of 2) 31 |
|
OneToMany | |||
| CSGALNACT1 (2 of 2) 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG12913 30 31 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007720 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6775 31 |
|
OneToMany |
- Species where no ortholog for CSGALNACT1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for CSGALNACT1: view image
Paralogs for CSGALNACT1 Gene
Variants for CSGALNACT1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CSGALNACT1 Gene
| SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 870477 | Likely Pathogenic: Skeletal dysplasia, mild, with joint laxity and advanced bone age | 19,418,732(-) |
G/C NM_018371.4(CSGALNACT1):c.1151C>G (p.Pro384Arg) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| 870478 | Pathogenic: Skeletal dysplasia, mild, with joint laxity and advanced bone age | 19,505,462(-) |
GC/G NM_018371.4(CSGALNACT1):c.372del (p.His125fs) |
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT | |
| 870480 | Likely Pathogenic: Skeletal dysplasia, mild, with joint laxity and advanced bone age | 19,408,628(-) |
C/A NM_018371.4(CSGALNACT1):c.1294G>T (p.Asp432Tyr) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| 992625 | Likely Pathogenic: Skeletal dysplasia, mild, with joint laxity and advanced bone age | 19,458,486(-) |
T/C NM_018371.5(CSGALNACT1):c.791A>G (p.Asn264Ser) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| rs140290682 | Likely Benign: not provided | 19,405,802(-) |
TTC/T NM_001130518.1(CSGALNACT1):c.1575_1576del (p.Lys526fs) |
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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)
Additional Variant Information for CSGALNACT1 Gene
- Human Gene Mutation Database (HGMD)
- CSGALNACT1
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- CSGALNACT1
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CSGALNACT1 Gene
Disorders for CSGALNACT1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| skeletal dysplasia, mild, with joint laxity and advanced bone age |
|
|
| breast pericanalicular fibroadenoma |
|
|
| temtamy preaxial brachydactyly syndrome |
|
|
| coffin-siris syndrome 1 |
|
|
| coffin-siris syndrome 2 |
|
|
Search CSGALNACT1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CSGALNACT1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for CSGALNACT1 Gene
Publications for CSGALNACT1 Gene
- Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity. (PMID: 27599773) Vodopiutz J … Janecke AR (Human mutation 2017) 3 4 74
- Chondroitin sulfate N-acetylgalactosaminyltransferase-1 plays a critical role in chondroitin sulfate synthesis in cartilage. (PMID: 17145758) Sakai K … Watanabe H (The Journal of biological chemistry 2007) 2 3 4
- 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 (The Journal of biological chemistry 2003) 2 3 4
- Chondroitin beta-1,4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies. (PMID: 21160489) Saigoh K … Kusunoki S (Journal of human genetics 2011) 3 4
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
Products for CSGALNACT1 Gene
- Custom Antibody Services
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- Sino Biological Human cDNA Clone for CSGALNACT1
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- High-throughput Antibody Production Service
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- Novus Biologicals proteins and lysates for CSGALNACT1
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- Taconic Biosciences Mouse Models for CSGALNACT1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for CSGALNACT1 (AFLGC-CSGALNACT1)
- VectorBuilder Custom and pre-made DNA vectors for CSGALNACT1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for CSGALNACT1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for CSGALNACT1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for CSGALNACT1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for CSGALNACT1
- Addgene plasmids for CSGALNACT1
- antibodies-online: Show 20 available CSGALNACT1 Antibodies ranked by validation data
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- 46 WB Antibodies (anti-human)
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- 1 IF Antibody (anti-human)
- 1 IHC Antibody (anti-human)
- 21 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 4 IHC (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 12 IF (p) Antibodies (anti-rat)
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- Quality Products:
- antibodies-online: Show 5 available CSGALNACT1 Proteins ranked by validation data
- Compare Top CSGALNACT1 Proteins
- Browse Santa Cruz Biotechnology (SCBT) Antibodies
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- Santa Cruz Biotechnology (SCBT) CRISPR for CSGALNACT1
- Horizon Cell Lines for CSGALNACT1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CSGALNACT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CSGALNACT1
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CSGALNACT1
- Boster Bio Antibodies for CSGALNACT1
- Browse Boster Bio ELISA Kits
Sources for CSGALNACT1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB