CHST11 carbohydrate sulfotransferase 11 [Homo sapiens (human)] - Gene

Summary

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

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
The CHST11 gene is linked to lung cancer and pulmonary fibrosis.
Title: The CHST11 gene is linked to lung cancer and pulmonary fibrosis.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-106247 (e-PCR)
- UniSTS:169736

SHGC-149540 (e-PCR)
- UniSTS:182578

RH101978 (e-PCR)
- UniSTS:96312

Chst11 (e-PCR), detects polymorphism
- UniSTS:516432

SHGC-155530 (e-PCR)
- UniSTS:182617

SHGC-155531 (e-PCR)
- UniSTS:182618

SHGC-105583 (e-PCR)
- UniSTS:169334

SHGC-79931 (e-PCR)
- UniSTS:101499

RH15762 (e-PCR)
- UniSTS:8572

D12S1075 (e-PCR)
- UniSTS:29827

G64840 (e-PCR)
- UniSTS:164746

SHGC-64736 (e-PCR)
- UniSTS:100773

SHGC-17242 (e-PCR)
- UniSTS:31147

G49574 (e-PCR)
- UniSTS:109243

RH70385 (e-PCR)
- UniSTS:45017

G64600 (e-PCR)
- UniSTS:163804

WI-16091 (e-PCR)
- UniSTS:62179

WI-18674 (e-PCR)
- UniSTS:61926

D12S1647 (e-PCR), detects polymorphism
- UniSTS:14055

WI-15690 (e-PCR)
- UniSTS:61927

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	IEA Inferred from Electronic Annotation more info
enables chondroitin 4-sulfotransferase activity	TAS Traceable Author Statement more info
enables dermatan 4-sulfotransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables sulfotransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables sulfotransferase activity	IEA Inferred from Electronic Annotation more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in carbohydrate biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cartilage development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within chondrocyte development	IEA Inferred from Electronic Annotation more info
involved_in chondroitin sulfate proteoglycan biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within chondroitin sulfate proteoglycan biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in chondroitin sulfate proteoglycan biosynthetic process	TAS Traceable Author Statement more info
acts_upstream_of_or_within chondroitin sulfate proteoglycan metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within developmental growth	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within embryonic digit morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within embryonic limb morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within embryonic skeletal system morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within embryonic viscerocranium morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within in utero embryonic development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of transforming growth factor beta receptor signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within polysaccharide localization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within post-anal tail morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within post-embryonic development	IEA Inferred from Electronic Annotation more info
involved_in proteoglycan biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within respiratory gaseous exchange by respiratory system	IEA Inferred from Electronic Annotation more info
acts_upstream_of transforming growth factor beta receptor signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
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

EC 2.8.2.5

NP_060883.1

EC 2.8.2.5

XP_047284870.1

EC 2.8.2.5

XP_047284871.1

EC 2.8.2.5

XP_054228123.1

EC 2.8.2.5

XP_054228124.1

EC 2.8.2.5

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

NG_029810.2 RefSeqGene

Range

5035..310101

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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