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.
|
|
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 |
|
GO:0008146 |
Function |
Sulfotransferase activity |
IBA |
21873635 |
GO:0009791 |
Process |
Post-embryonic development |
IEA |
|
GO:0016020 |
Component |
Membrane |
HDA |
19946888 |
GO:0016021 |
Component |
Integral component of membrane |
NAS |
11056388 |
GO:0016051 |
Process |
Carbohydrate biosynthetic process |
IEA |
|
GO:0030166 |
Process |
Proteoglycan biosynthetic process |
IBA |
21873635 |
GO:0030206 |
Process |
Chondroitin sulfate biosynthetic process |
IDA |
11056388 |
GO:0030206 |
Process |
Chondroitin sulfate biosynthetic process |
TAS |
|
GO:0030512 |
Process |
Negative regulation of transforming growth factor beta receptor signaling pathway |
IEA |
|
GO:0033037 |
Process |
Polysaccharide localization |
IEA |
|
GO:0036342 |
Process |
Post-anal tail morphogenesis |
IEA |
|
GO:0042127 |
Process |
Regulation of cell population proliferation |
IEA |
|
GO:0042733 |
Process |
Embryonic digit morphogenesis |
IEA |
|
GO:0043066 |
Process |
Negative regulation of apoptotic process |
IEA |
|
GO:0047756 |
Function |
Chondroitin 4-sulfotransferase activity |
IDA |
11056388 |
GO:0048589 |
Process |
Developmental growth |
IEA |
|
GO:0048703 |
Process |
Embryonic viscerocranium morphogenesis |
IEA |
|
GO:0050659 |
Function |
N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity |
IEA |
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
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.
|
|
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 |
|
|
|