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CHST11 carbohydrate sulfotransferase 11 [ Homo sapiens (human) ]

Gene ID: 50515, updated on 15-Apr-2019

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

Genomic context

See CHST11 in Genome Data Viewer
Location:
12q23.3
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (104456914..104762014)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (104850692..105155792)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene thioredoxin reductase 1 Neighboring gene uncharacterized LOC105369949 Neighboring gene EP300 interacting inhibitor of differentiation 3 Neighboring gene ATP synthase F(0) complex subunit C1, mitochondrial pseudogene Neighboring gene uncharacterized LOC112268100 Neighboring gene microRNA 3922 Neighboring gene solute carrier family 41 member 2 Neighboring gene uncharacterized LOC105369950 Neighboring gene keratin 18 pseudogene 20

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS
MedGen: CN257753 OMIM: 618167 GeneReviews: Not available
not available

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Chondroitin sulfate biosynthesis, organism-specific biosystem (from REACTOME)
    Chondroitin sulfate biosynthesis, organism-specific biosystemChondroitin sulfate (CS) glycosaminoglycan consists of N-acetylgalactosamine (GalNAc) residues alternating in glycosidic linkages with glucuronic acid (GlcA). GalNAc residues are sulfated to varying ...
  • Chondroitin sulfate/dermatan sulfate metabolism, organism-specific biosystem (from REACTOME)
    Chondroitin sulfate/dermatan sulfate metabolism, organism-specific biosystemChondroitin sulfate (CS) is a sulfated glycosaminoglycan (GAG). CS chains are unbranched polysaccharides of varying length containing two alternating monosaccharides: D-glucuronic acid (GlcA) and N-a...
  • Endochondral Ossification, organism-specific biosystem (from WikiPathways)
    Endochondral Ossification, organism-specific biosystemEndochondral ossification is the process by which the embryonic cartilaginous model of most bones contributes to longitudinal growth and is gradually replaced by bone. During endochondral ossificatio...
  • Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate, organism-specific biosystem (from KEGG)
    Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate, organism-specific biosystemGlycosaminoglycans (GAGs) are linear polysaccharide chains consisting of repeating disaccharide units and form proteglycans by covalently attaching to their core proteins. Chondroitin sulfate (CS) is...
  • Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate, conserved biosystem (from KEGG)
    Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate, conserved biosystemGlycosaminoglycans (GAGs) are linear polysaccharide chains consisting of repeating disaccharide units and form proteglycans by covalently attaching to their core proteins. Chondroitin sulfate (CS) is...
  • Glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
    Glycosaminoglycan metabolism, organism-specific biosystemGlycosaminoglycans (GAGs) are long, unbranched polysaccharides containing a repeating disaccharide unit composed of a hexosamine (either N-acetylgalactosamine (GalNAc) or N-acetylglucosamine (GlcNAc)...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Metapathway biotransformation, organism-specific biosystem (from WikiPathways)
    Metapathway biotransformation, organism-specific biosystem
    Metapathway biotransformation
  • Spinal Cord Injury, organism-specific biosystem (from WikiPathways)
    Spinal Cord Injury, organism-specific biosystemThis pathway provides an overview of cell types, therapeutic targets, drugs, new proposed targets and pathways implicated in spinal cord injury. Spinal cord injury is a complex multistep process that...
  • chondroitin sulfate biosynthesis, organism-specific biosystem (from BIOCYC)
    chondroitin sulfate biosynthesis, organism-specific biosystem
    chondroitin sulfate biosynthesis
  • chondroitin sulfate biosynthesis, conserved biosystem (from BIOCYC)
    chondroitin sulfate biosynthesis, conserved biosystemGeneral Background |FRAME: Chondroitin-sulfates "Chondroitin sulfate"| is a sulfated |FRAME: Glycosaminoglycans glycosaminoglycan"| composed of alternating units of sulfated |FRAME:CPD-12557| and |F...
  • chondroitin sulfate biosynthesis (late stages), organism-specific biosystem (from BIOCYC)
    chondroitin sulfate biosynthesis (late stages), organism-specific biosystemGeneral Background : Chondroitin-sulfates "Chondroitin sulfate" is a sulfated : Glycosaminoglycans glycosaminoglycan" composed of alternating units of sulfated :CPD-12557 N-acetyl-beta-D-galactosami...
  • chondroitin sulfate biosynthesis (late stages), conserved biosystem (from BIOCYC)
    chondroitin sulfate biosynthesis (late stages), conserved biosystemGeneral Background |FRAME: Chondroitin-sulfates "Chondroitin sulfate"| is a sulfated |FRAME: Glycosaminoglycans glycosaminoglycan"| composed of alternating units of sulfated |FRAME:CPD-12557| and |F...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ41682, DKFZp667A035

Gene Ontology Provided by GOA

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
 
regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
respiratory gaseous exchange 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 PubMed 

General protein information

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_016874858.1

NCBI Reference Sequences (RefSeq)

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
    5001..310101
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001173982.1NP_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:108338
    Sulfotransfer_2; Sulfotransferase family
  2. NM_018413.6NP_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:113343
    Sulfotransfer_2; Sulfotransferase family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    104456914..104762014
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019369.1XP_016874858.1  carbohydrate sulfotransferase 11 isoform X1

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