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
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

Genomic context

Location:: 12q23.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
109.20201120	current	GRCh38.p13 (GCF_000001405.39)	12	NC_000012.12 (104456948..104762014)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (104850692..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: 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?

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 <i>CHST11</i> 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.
These results have demonstrated that CHST11 and CHST13 negatively modulate metastasis and drug resistance of HCC cells probably via oncogenic MAPK signal pathway.
Title: CHST11/13 Regulate the Metastasis and Chemosensitivity of Human Hepatocellular Carcinoma Cells Via Mitogen-Activated Protein Kinase Pathway.
We conclude that CHSTs involved in the synthesis of CS-A and CS-E might influence ovarian cancer progression, and we suggest CHST11 as independent unfavorable prognostic factor in this entity.
Title: Prognostic impact of chondroitin-4-sulfotransferase CHST11 in ovarian cancer.
CHST11 may play a direct role in progression of breast cancer and that its expression is controlled by DNA methylation. Therefore, in addition to CHST11 mRNA levels, the methylation status of this gene also has potential as a prognostic biomarker.
Title: CHST11 gene expression and DNA methylation in breast cancer.
Silencing Wnt9A increased the expression of CHST11 in the colonic epithelial cells, and chromatin immunoprecipitation assay demonstrated enhancing effects of Wnt9A siRNA and exogenous BMP4 on the CHST11 promoter
Title: Regulation of chondroitin-4-sulfotransferase (CHST11) expression by opposing effects of arylsulfatase B on BMP4 and Wnt9A.
reduced C4ST-1 expression and chondroitin sulfation imbalance mediating the effects of oncogenic HRAS signaling in the pathogenesis of Costello syndrome.
Title: C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.
Cell surface P-selectin binding depends on CHST11 gene expression. CSPG4 serves as a P-selectin ligand through its CS chain and participates in P-selectin binding to the highly metastatic breast cancer cells.
Title: Chondroitin sulfates play a major role in breast cancer metastasis: a role for CSPG4 and CHST11 gene expression in forming surface P-selectin ligands in aggressive breast cancer cells.
Forced expression of C4ST-1 in L-Wnt-3a cells inhibited diffusion of Wnt-3a due to structural alterations in CS chains mediated by C4ST-1.
Title: Down-regulation of chondroitin 4-O-sulfotransferase-1 by Wnt signaling triggers diffusion of Wnt-3a.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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
A genome-wide association study of DSM-IV cannabis dependence. GeneReviews: Not available
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases. GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available
OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS MedGen: C4748496 OMIM: 618167 GeneReviews: Not available	Compare labs

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

Homology

Homologs of the CHST11 gene: The CHST11 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 334 organisms have orthologs with human gene CHST11
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
N-acetylgalactosamine 4-O-sulfotransferase activity	IDA Inferred from Direct Assay more info	PubMed
N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	IEA Inferred from Electronic Annotation more info
chondroitin 4-sulfotransferase activity	IDA Inferred from Direct Assay more info	PubMed
sulfotransferase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed

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

Component	Evidence Code	Pubs
Golgi membrane	TAS Traceable Author Statement more info
integral component of membrane	NAS Non-traceable Author Statement more info	PubMed
membrane	HDA 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_016874858.1

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

Download

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

Q9NPF2

UniProtKB/TrEMBL

A0A024RBL0

Related

ENSP00000305725.5, ENST00000303694.6

Conserved Domains (1) summary

pfam03567
Location:113 → 343

Sulfotransfer_2; Sulfotransferase family