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CHST11 (carbohydrate sulfotransferase 11)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
50515
Gene nameGene Name - the full gene name approved by the HGNC.
Carbohydrate sulfotransferase 11
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CHST11
SynonymsGene synonyms aliases
C4ST, C4ST-1, C4ST1, HSA269537, OCBMD
ChromosomeChromosome number
12
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q23.3
SummarySummary of gene provided in NCBI Entrez Gene.
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 constit
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1566067709 TGAAGACCCTGAACC>- Uncertain-significance, pathogenic Coding sequence variant, inframe deletion
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT002789 hsa-miR-1-3p Microarray 15685193
MIRT021157 hsa-miR-186-5p Sequencing 20371350
MIRT002789 hsa-miR-1-3p Microarray;Other 15685193
MIRT027800 hsa-miR-98-5p Microarray 19088304
MIRT606879 hsa-miR-6783-5p HITS-CLIP 23313552
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0001537 Function N-acetylgalactosamine 4-O-sulfotransferase activity IDA 11056388
GO:0001701 Process In utero embryonic development IEA
GO:0002063 Process Chondrocyte development IEA
GO:0007585 Process Respiratory gaseous exchange by respiratory system IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q9NPF2
Protein name Carbohydrate sulfotransferase 11 (EC 2.8.2.5) (Chondroitin 4-O-sulfotransferase 1) (Chondroitin 4-sulfotransferase 1) (C4S-1) (C4ST-1) (C4ST1)
Protein function 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03567 Sulfotransfer_2
108 344
Sulfotransferase family
Domain
Sequence
Sequence length 352
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate   Chondroitin sulfate biosynthesis
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 21926974
Scoliosis Scoliosis, unspecified rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Unknown
Disease name Disease term dbSNP ID References
Hypoplasia of thumb Hypoplasia of thumb

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