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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CSGALNACT1 Gene

protein-coding   GIFtS: 56
GCID: GC08M019306

chondroitin sulfate N-acetylgalactosaminyltransferase 1
 Explore 4 diseases affiliated with
CSGALNACT1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CSGALNACT1    

Aliases
for CSGALNACT1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Chondroitin Sulfate N-Acetylgalactosaminyltransferase 11 2     Chondroitin Beta1,4 N-Acetylgalactosaminyltransferase2
CSGalNAcT-11 2     Beta4GalNAcT-13
ChGn1 2     CHGN3
Chondroitin Beta-1,4-N-Acetylgalactosaminyltransferase 12 3     CsGalNAcT-13
FLJ112641     EC 2.4.1.1743
Beta4GalNAcT1     GALNACT13
Beta4GalNAcT-13     

External Ids:    HGNC: 242901   Entrez Gene: 557902   Ensembl: ENSG000001474087   UniProtKB: Q8TDX63   
ORGUL members:         
NONCODE:n406527    

Export aliases for CSGALNACT1 gene to outside databases

Previous GC identifer: GC08M017801


Summaries
for CSGALNACT1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: CGAT1_HUMAN, Q8TDX6
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

Gene Wiki entry for CSGALNACT1 (ChGn)


Genomic Views
for CSGALNACT1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_167187.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CSGALNACT1 gene promoter:
         TBP   NF-1   FOXJ2 (long isoform)   POU6F1 (c2)   FOXJ2   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CSGALNACT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CSGALNACT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CSGALNACT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p21.3   Ensembl cytogenetic band:  8p21.3   HGNC cytogenetic band: 8p21.3

CSGALNACT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CSGALNACT1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M019306:  view genomic region     (about GC identifiers)

Start:
 19,261,672 bp from pter      End:
 19,615,540 bp from pter
Size:
 353,869 bases      Orientation:
 minus strand

Proteins
for CSGALNACT1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: CGAT1_HUMAN, Q8TDX6 (See protein sequence)
Recommended Name: Chondroitin sulfate N-acetylgalactosaminyltransferase 1  
Size: 532 amino acids; 61294 Da
Subcellular location: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein (Probable)
Secondary accessions: B2RBE4 Q6P9G6 Q8IUF9 Q9NSQ7 Q9NUM9
Alternative splicing: 3 isoforms:  Q8TDX6-1   Q8TDX6-2   Q8TDX6-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CSGALNACT1: NX_Q8TDX6

Post-translational modifications:

  • N-glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8TDX6

    • CSGALNACT1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001123990.1  NP_060841.5  

    ENSEMBL proteins: 
     ENSP00000411816   ENSP00000330805   ENSP00000381084   ENSP00000429809   ENSP00000428216  
     ENSP00000428089   ENSP00000429130   ENSP00000428774   ENSP00000427740   ENSP00000310891  
     ENSP00000442155  
    Reactome Protein details: Q8TDX6
    Human Recombinant Protein Products: 
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    Uscn Proteins for CSGALNACT1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005622intracellular IC12163485
    GO:0030173integral to Golgi membrane NAS11514575
    GO:0032580Golgi cisterna membrane IEA--


    CSGALNACT1 for ontologies           About GeneDecksing



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    Uscn Antibodies for CSGALNACT1
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    Uscn ELISAs and CLIAs for CSGALNACT1

    Protein Domains /
    Families
    for CSGALNACT1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CSGALNACT1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR008428 Chond_GalNAc

    Graphical View of Domain Structure for InterPro Entry Q8TDX6

    ProtoNet protein and cluster: Q8TDX6

    UniProtKB/Swiss-Prot: CGAT1_HUMAN, Q8TDX6
    Similarity: Belongs to the chondroitin N-acetylgalactosaminyltransferase family


    Function
    for CSGALNACT1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: CGAT1_HUMAN, Q8TDX6
    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
    Catalytic activity: 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

    Enzyme Number (IUBMB): EC 2.4.1.1741

    miRNA
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    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate CSGALNACT1 (see all 25):
    hsa-miR-106a hsa-miR-218-1* hsa-miR-218 hsa-miR-519a hsa-miR-9 hsa-miR-93 hsa-miR-199b-5p hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmid: CSGALNACT1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008376acetylgalactosaminyltransferase activity ISS11788602
    GO:0008955peptidoglycan glycosyltransferase activity IDA11514575
    GO:0015020glucuronosyltransferase activity IDA11514575
    GO:0016758transferase activity, transferring hexosyl groups ----
    GO:0046872metal ion binding NAS12163485


    CSGALNACT1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for CSGALNACT1:
     Increased gamma-H2AX phosphory 

    Animal Models:
         Mouse knock-outs for CSGALNACT1: Csgalnact1tm1Lex Csgalnact1tm1.1Nari Csgalnact1tm1.1Migar
         7 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Csgalnact1):
     behavior/neurological  craniofacial  growth/size  limbs/digits/tail  mortality/aging 
     reproductive system  skeleton 

    CSGALNACT1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CSGALNACT1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1MPS IIIC - Sanfilippo syndrome C
    8/14 pathways (see all 14)
    		MPS VI - Maroteaux-Lamy syndrome1.00
    		MPS VII - Sly syndrome1.00
    		MPS IIIC - Sanfilippo syndrome C1.00
    		MPS IIIA - Sanfilippo syndrome A1.00
    		MPS I - Hurler syndrome1.00
    		MPS IIID - Sanfilippo syndrome D1.00
    		Mucopolysaccharidoses1.00
    		MPS IX - Natowicz syndrome1.00
    2dermatan sulfate biosynthesis
    		dermatan sulfate biosynthesis1.00
    		chondroitin and dermatan biosynthesis0.38
    		Glycosaminoglycan biosynthesis - chondroitin sulfate0.73
    		chondroitin sulfate biosynthesis (late stages)0.32
    		chondroitin sulfate biosynthesis0.64
    		Chondroitin sulfate biosynthesis0.24
    3Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    4Disease
    		Disease1.00
    5A tetrasaccharide linker sequence is required for GAG synthesis
    		Chondroitin sulfate/dermatan sulfate metabolism0.54

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4 BioSystems Pathways for CSGALNACT1 
        chondroitin and dermatan biosynthesis
    chondroitin sulfate biosynthesis (late stages)
    dermatan sulfate biosynthesis
    chondroitin sulfate biosynthesis

    5/18        Reactome Pathways for CSGALNACT1 (see all 18)
        Chondroitin sulfate/dermatan sulfate metabolism
    MPS VI - Maroteaux-Lamy syndrome
    Metabolism
    Disease
    MPS II - Hunter syndrome


    2         Kegg Pathways  (Kegg details for CSGALNACT1):
        Glycosaminoglycan biosynthesis - chondroitin sulfate
    Metabolic pathways


    CSGALNACT1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CSGALNACT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/23 Interacting proteins for CSGALNACT1 (ENSP000003108914) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    B3GAT1ENSP000003078754STRING: ENSP00000307875
    B3GAT2ENSP000002300534STRING: ENSP00000230053
    B3GAT3ENSP000002654714STRING: ENSP00000265471
    BGNENSP000003273364STRING: ENSP00000327336
    CHPFENSP000002437764STRING: ENSP00000243776
    About this table

    Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001958endochondral ossification IEA--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0007399nervous system development NAS11514575
    GO:0008037cell recognition NAS11514575
    GO:0008283cell proliferation NAS11514575


    CSGALNACT1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for CSGALNACT1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CSGALNACT1

    1 HMDB Compound for CSGALNACT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Uridine diphosphate-N-acetylgalactosamineUDP-N-acetyl-D-galactosamine (see all 17)7277-98-7--
    Search CenterWatch for drugs/clinical trials and news about CSGALNACT1 / CGAT1 

    Transcripts
    for CSGALNACT1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for CSGALNACT1 gene (2 alternative transcripts): 
    NM_001130518.1  NM_018371.4  

    Unigene Cluster for CSGALNACT1:

    Chondroitin sulfate N-acetylgalactosaminyltransferase 1
    Hs.613729  [show with all ESTs]
    Unigene Representative Sequence: NM_001130518
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000454498(uc011kyn.2) ENST00000332246(uc011kyo.2 uc011kyp.2)
    ENST00000397998(uc003wzg.3) ENST00000522854 ENST00000518542 ENST00000519222(uc003wzh.2)
    ENST00000523262 ENST00000517494 ENST00000520003 ENST00000524213 ENST00000517651
    ENST00000523227 ENST00000522732 ENST00000522573 ENST00000523919 ENST00000524112
    ENST00000311540 ENST00000544602

    miRNA
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    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate CSGALNACT1 (see all 25):
    hsa-miR-106a hsa-miR-218-1* hsa-miR-218 hsa-miR-519a hsa-miR-9 hsa-miR-93 hsa-miR-199b-5p hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmid: CSGALNACT1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AB071403.1 AB081516.1 AK002124.1 AK002126.1 AK314625.1 AL157483.1 AY358441.1 BC033525.1 
    BC048103.1 BX649103.1 NR_024040.1 

    16 DOTS entries:

    DT.101980618  DT.100693054  DT.91649525  DT.101958464  DT.210633  DT.92037715  DT.65284987  DT.120638413 
    DT.120638423  DT.120638429  DT.120638478  DT.120638516  DT.97795023  DT.91739684  DT.91940806  DT.92036875 

    24/102 AceView cDNA sequences (see all 102):

    CR596296 BE672394 BM722981 AK055154 BM973345 AA371262 CB997993 AA514843 
    BQ011886 BE502450 BQ016671 AA330436 BE073849 AV707525 AL707812 BC033525 
    BC060772 BU617519 AU138691 AB071403 AA768250 BF055507 AU140637 BQ949260 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for CSGALNACT1 (see all 10)    About this scheme

    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:              -     -     -     -     -                 -     -     -                                                                                 


    ECgene alternative splicing isoforms for CSGALNACT1

    Expression
    for CSGALNACT1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CSGALNACT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CSGALNACT1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyS-shaped BodyKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 5 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor SM22 (Embryonic Progenitor Cell)
    PureStem™ progenitor W10 (Embryonic Progenitor Cell)
    Fetal cardiomyocytes (20 weeks) (Primary Cell)Heart, Myocardium

    See CSGALNACT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CSGALNACT1

    SOURCE GeneReport for Unigene cluster: Hs.613729

    UniProtKB/Swiss-Prot: CGAT1_HUMAN, Q8TDX6
    Tissue specificity: Ubiquitous, with the highest levels in placenta, thyroid, bladder, prostate and adrenal gland.
    Detected at low levels in the other tissues examined

        SABiosciences Custom PCR Arrays for CSGALNACT1
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    Orthologs
    for CSGALNACT1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for CSGALNACT1 gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves CSGALNACT11 chondroitin sulfate N-acetylgalactosaminyltransferase more 75.24(n)
    79.77(a)    		   422488  XM_420453.3  XP_420453.2 
    lizard
    (Anolis carolinensis)    		 Reptilia CSGALNACT16
    		 --
    		 79(a)
    		 1 ↔ 1
    		 6(58961349-58976045)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia BX750027.12   -- 77.74(n)    BX750027.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC7936711 chondroitin sulfate N-acetylgalactosaminyltransferase more 68.75(n)
    71.64(a)    		   793671  XM_001333443.3  XP_001333479.3 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG129131 CG12913 51.27(n)
    43.12(a)    		   36079  NM_136723.2  NP_610567.1 


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

    Paralogs
    for CSGALNACT1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CSGALNACT1 gene
    CHSY32  CHPF2  CSGALNACT22  CHPF22  CHSY12  
    2 SIMAP similar genes for CSGALNACT1 using alignment to 5 protein entries:     CGAT1_HUMAN (see all proteins):
    ChGn    CSGALNACT2

    CSGALNACT1 for paralogs           About GeneDecksing



    Genomic Variants
    for CSGALNACT1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/7225 NCBI SNPs in CSGALNACT1 are shown (see all 7225)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 8 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1410720201,2
    		--19261200(+) TCAAGA/CGATCC 3 -- int10--------
    rs624938521,2
    		--19261457(+) ACAATC/TTGATT 3 -- int12Minor allele frequency- T:0.04NA 122
    rs1872555051,2
    		--19261537(+) CAGTAG/TAGAAG 3 -- int10--------
    rs1921095351,2
    		--19261553(+) CCTCCA/CCAGCA 3 -- int10--------
    rs1479981031,2
    		--19261637(+) CAAAAA/GCTAAA 3 -- int10--------
    rs1419556841,2
    		--19261690(+) TCATAC/TTTTAT 3 -- ut31 nc-transcript-variant0--------
    rs70012311,2
    		C,F,A,H,--19261730(+) GCCTGT/CGTTTT 3 -- nc-transcript-variantut31 ese314Minor allele frequency- C:0.05NS EA NA WA 2002
    rs786270471,2
    		C,F,--19261970(+) GTAATA/GAAATG 3 -- nc-transcript-variantut311Minor allele frequency- G:0.02WA 118
    rs70055281,2
    		C,F,H,--19262106(+) ATGGAT/CTGATC 3 -- nc-transcript-variantut31 ese38Minor allele frequency- C:0.05NS EA NA 1092
    rs570825001,2
    		C,F--19262135(+) TATATT/ATTTTT 3 -- nc-transcript-variantut312Minor allele frequency- A:0.50WA 4

    HapMap Linkage Disequilibrium report for CSGALNACT1 (19261672 - 19511672 bp, first 250kb of CSGALNACT1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 8 variations for CSGALNACT1
         5 CNVs: 53791 48003 100288 30281 65076
         3 Indels: 47515 41701 70319
    Human Gene Mutation Database (HGMD): CSGALNACT1

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    Disorders / Diseases
    for CSGALNACT1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    CSGALNACT1 for disorders           About GeneDecksing

    4 diseases for CSGALNACT1:    About MalaCards
    bell's palsy    neuropathy    thyroiditis    prostatitis

    1 disease from the University of Copenhagen DISEASES database for CSGALNACT1:
    Glomerulonephritis
    Human Genome Epidemiology (HuGE) Navigator: CSGALNACT1 (3 documents)

    Export disorders for CSGALNACT1 gene to outside databases

    Publications
    for CSGALNACT1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CSGALNACT1 gene, integrated from 9 sources (see all 21):
    (articles sorted by number of sources associating them with CSGALNACT1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Chondroitin sulfate N-acetylgalactosaminyltransferase-1 plays a critical role in chondroitin sulfate synthesis in cartilage. (PubMed id 17145758)1, 2, 3 Sakai K....Watanabe H. (2007)
    2. Differential roles of two N-acetylgalactosaminyltransferases, CSGalNAcT-1, and a novel enzyme, CSGalNAcT-2. Initiation and elongation in synthesis of chondroitin sulfate. (PubMed id 12446672)1, 2, 3 Sato T.... Narimatsu H. (2003)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    6. Molecular cloning and expression of human chondroitin N- acetylgalactosaminyltransferase: key enzyme for chain initiation and elongation of chondroitin/dermatan sulfate on the protein linkage region tetrasaccharide shared by heparin/heparan sulfate. (PubMed id 11788602)1, 2 Uyama T.... Sugahara K. (2002)
    7. Enzymatic synthesis of chondroitin with a novel chondroitin sulfate N-acetylgalactosaminyltransferase that transfers N-acetylgalactosamine to glucuronic acid in initiation and elongation of chondroitin sulfate synthesis. (PubMed id 12163485)1, 2 Gotoh M.... Narimatsu H. (2002)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. Chondroitin sulfate N-acetylgalactosaminyltransferase- 1 (CSGalNAcT-1) involved in chondroitin sulfate initiation: Impact of sulfation on activity and specificity. (PubMed id 22156920)1 Gulberti S....Fournel-Gigleux S. (2012)
    10. Chondroitin beta-1,4-N-acetylgalactosaminyltransferas e-1 missense mutations are associated with neuropathies. (PubMed id 21160489)1 Saigoh K....Kusunoki S. (2011)

    External Searches for CSGALNACT1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CSGALNACT1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55790 HGNC: 24290 AceView: ChGn Ensembl:ENSG00000147408 euGenes: HUgn55790
    ECgene: CSGALNACT1 Kegg: 55790 H-InvDB: CSGALNACT1

    Other Databases showing CSGALNACT1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CSGALNACT1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CSGALNACT1 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_477

    Intellectual Property
    for CSGALNACT1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for CSGALNACT1 gene:
    Search GeneIP for patents involving CSGALNACT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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