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    CHST11 carbohydrate sulfotransferase 11 [ Homo sapiens (human) ]

    Gene ID: 50515, updated on 14-Nov-2024

    Summary

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    Official Symbol
    CHST11provided by HGNC
    Official Full Name
    carbohydrate sulfotransferase 11provided by HGNC
    Primary source
    HGNC:HGNC:17422
    See related
    Ensembl:ENSG00000171310 MIM:610128; AllianceGenome:HGNC:17422
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C4ST; C4ST1; OCBMD; C4ST-1; HSA269537
    Summary
    The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. A chromosomal translocation involving this gene and IgH, t(12;14)(q23;q32), has been reported in a patient with B-cell chronic lymphocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
    Expression
    Ubiquitous expression in appendix (RPKM 8.6), brain (RPKM 8.5) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CHST11 in Genome Data Viewer
    Location:
    12q23.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (104456948..104762014)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (104418595..104723625)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (104850726..105155792)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369949 Neighboring gene MPRA-validated peak1927 silencer Neighboring gene uncharacterized LOC124903003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6910 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:104808107-104809018 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23909 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:104846113-104846615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6911 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6912 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4795 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4796 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6913 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4797 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6914 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6915 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:104876710-104877210 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:104885786-104885989 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6917 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6920 Neighboring gene ATP synthase F(0) complex subunit C1, mitochondrial-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6921 Neighboring gene Sharpr-MPRA regulatory region 14866 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:104920569-104921159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6922 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:104949096-104949598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:104950760-104951594 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6926 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:104997281-104997908 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:104997909-104998535 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:104998957-104999544 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:104999545-105000132 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:105017531-105018268 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:105026139-105026640 Neighboring gene microRNA 3922 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6929 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:105065189-105065793 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:105081721-105081916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6931 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:105102028-105102832 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:105102833-105103637 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:105114284-105114912 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:105116877-105117495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6934 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:105136527-105137148 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:105144840-105145417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6936 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24027 Neighboring gene Sharpr-MPRA regulatory region 12146 Neighboring gene solute carrier family 41 member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6937 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24038 Neighboring gene Sharpr-MPRA regulatory region 3023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6938 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4799 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4800 Neighboring gene keratin 18 pseudogene 20

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Effect of CHST11, a novel biomarker, on the biological functionalities of clear cell renal cell carcinoma.
      Title: Effect of CHST11, a novel biomarker, on the biological functionalities of clear cell renal cell carcinoma.
    2. KIAA1429-mediated m6A modification of CHST11 promotes progression of diffuse large B-cell lymphoma by regulating Hippo-YAP pathway.
      Title: KIAA1429-mediated m6A modification of CHST11 promotes progression of diffuse large B-cell lymphoma by regulating Hippo-YAP pathway.
    3. High Expression of CHST11 Correlates with Poor Prognosis and Tumor Immune Infiltration of Pancreatic Cancer.
      Title: High Expression of CHST11 Correlates with Poor Prognosis and Tumor Immune Infiltration of Pancreatic Cancer.
    4. The CHST11 gene is linked to lung cancer and pulmonary fibrosis.
      Title: The CHST11 gene is linked to lung cancer and pulmonary fibrosis.
    5. Chondroitin-4-sulfate transferase-1 depletion inhibits formation of a proteoglycan-rich layer and alters immunotolerance of bone marrow mesenchymal stem cells on titanium oxide surfaces.
      Title: Chondroitin-4-sulfate transferase-1 depletion inhibits formation of a proteoglycan-rich layer and alters immunotolerance of bone marrow mesenchymal stem cells on titanium oxide surfaces.
    6. An epigenome-wide association study of posttraumatic stress disorder in US veterans implicates several new DNA methylation loci.
      Title: An epigenome-wide association study of posttraumatic stress disorder in US veterans implicates several new DNA methylation loci.
    7. Carbohydrate (Chondroitin 4) Sulfotransferase-11-Mediated Induction of Epithelial-Mesenchymal Transition and Generation of Cancer Stem Cells.
      Title: Carbohydrate (Chondroitin 4) Sulfotransferase-11-Mediated Induction of Epithelial-Mesenchymal Transition and Generation of Cancer Stem Cells.
    8. Our findings confirm the crucial role of CHST11 in skeletal morphogenesis and show that CHST11 defects have variable manifestations that include a variety of limb malformations and skeletal defects
      Title: Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly.
    9. A C4ST-1 construct was designed and expressed in both Escherichia coli and Pichia pastoris in its non-glycosylated and glycosylated forms. Both constructs showed similar activity albeit different kinetic parameters when acting on a microbially prepared unsulfated chondroitin substrate. Moreover, the glycosylated form of C4ST-1 showed lower stability than the non-glycosylated form.
      Title: Expression of chondroitin-4-O-sulfotransferase in Escherichia coli and Pichia pastoris.
    10. data demonstrate that the hip osteoarthritis susceptibility is mediated by differential protein binding to the alleles of rs835487 and rs835488, which are located within an enhancer whose target may be CHST11 during chondrogenesis or an alternative gene.
      Title: Functional Characterization of the Osteoarthritis Susceptibility Mapping to CHST11-A Bioinformatics and Molecular Study.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Osteochondrodysplasia, brachydactyly, and overlapping malformed digits
    MedGen: C4748496 OMIM: 618167 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study of DSM-IV cannabis dependence.
    EBI GWAS Catalog
    Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ41682, DKFZp667A035

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables chondroitin 4-sulfotransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables chondroitin 4-sulfotransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables dermatan 4-sulfotransferase IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sulfotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in carbohydrate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chondrocyte development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chondroitin sulfate biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in chondroitin sulfate biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in developmental growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in embryonic viscerocranium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in polysaccharide localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in post-anal tail morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proteoglycan biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in respiratory gaseous exchange by respiratory system IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transforming growth factor beta receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    carbohydrate sulfotransferase 11
    Names
    C4S-1
    IgH/CHST11 fusion
    carbohydrate (chondroitin 4) sulfotransferase 11
    chondroitin 4-O-sulfotransferase 1
    NP_001167453.1
    NP_060883.1
    XP_047284870.1
    XP_047284871.1
    XP_054228123.1
    XP_054228124.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029810.2 RefSeqGene

      Range
      5035..310101
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001173982.2 → NP_001167453.1  carbohydrate sulfotransferase 11 isoform 2

      See identical proteins and their annotated locations for NP_001167453.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame donor splice site at the 5' terminal exon compared to variant 1. This results in a shorter isoform (2) missing a 5 aa protein segment near the N-terminus compared to isoform 1.
      Source sequence(s)
      AC073917, AJ289134, DA853534
      Consensus CDS
      CCDS55878.1
      UniProtKB/Swiss-Prot
      Q9NPF2
      Related
      ENSP00000450004.1, ENST00000549260.5
      Conserved Domains (1) summary
      pfam03567
      Location:108 → 338
      Sulfotransfer_2; Sulfotransferase family

    2. NM_018413.6 → NP_060883.1  carbohydrate sulfotransferase 11 isoform 1

      See identical proteins and their annotated locations for NP_060883.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC073917, AK290923, DA853534
      Consensus CDS
      CCDS9099.1
      UniProtKB/Swiss-Prot
      A8K4F8, Q9NPF2, Q9NXY6, Q9NY36
      Related
      ENSP00000305725.5, ENST00000303694.6
      Conserved Domains (1) summary
      pfam03567
      Location:113 → 343
      Sulfotransfer_2; Sulfotransferase family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      104456948..104762014
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428914.1 → XP_047284870.1  carbohydrate sulfotransferase 11 isoform X1

    2. XM_047428915.1 → XP_047284871.1  carbohydrate sulfotransferase 11 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      104418595..104723625
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372148.1 → XP_054228123.1  carbohydrate sulfotransferase 11 isoform X1

    2. XM_054372149.1 → XP_054228124.1  carbohydrate sulfotransferase 11 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NPF2.1 GenPept UniProtKB/Swiss-Prot:Q9NPF2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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