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CHST11 carbohydrate sulfotransferase 11 [ Homo sapiens (human) ]

Gene ID: 50515, updated on 22-Sep-2022

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
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Genomic context

See CHST11 in Genome Data Viewer
Location:
12q23.3
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (104456948..104762014)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (104418595..104723625)
105.20220307 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 uncharacterized LOC124903003 Neighboring gene ATP synthase F(0) complex subunit C1, mitochondrial-like Neighboring gene microRNA 3922 Neighboring gene solute carrier family 41 member 2 Neighboring gene Sharpr-MPRA regulatory region 3023 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 Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

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
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
PubMed 
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

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001173982.2NP_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, Q9NY36
    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 110 details...Open this link in a new tab

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_047428914.1XP_047284870.1  carbohydrate sulfotransferase 11 isoform X1

  2. XM_047428915.1XP_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)