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CHST11 carbohydrate sulfotransferase 11 [ Homo sapiens (human) ]

Gene ID: 50515, updated on 2-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
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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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Related articles in PubMed

  1. KIAA1429-mediated m6A modification of CHST11 promotes progression of diffuse large B-cell lymphoma by regulating Hippo-YAP pathway. Chen X, et al. Cell Mol Biol Lett, 2023 Apr 19. PMID 37076815, Free PMC Article
  2. High Expression of CHST11 Correlates with Poor Prognosis and Tumor Immune Infiltration of Pancreatic Cancer. Zhang P, et al. Clin Lab, 2022 Dec 1. PMID 36546737
  3. The CHST11 gene is linked to lung cancer and pulmonary fibrosis. Li CH, et al. J Gene Med, 2022 Dec. PMID 36181245
  4. Effect of CHST11, a novel biomarker, on the biological functionalities of clear cell renal cell carcinoma. Hu W, et al. Sci Rep, 2024 Apr 2. PMID 38565604, Free PMC Article
  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. Kamio H, et al. Acta Biomater, 2020 Sep 15. PMID 32707405

See all (52) citations in PubMed

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)

Genotypes

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-O-sulfotransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
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 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

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