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Gene Gene information from NCBI Gene database.
Entrez ID 8534
Gene name Carbohydrate sulfotransferase 1
Gene symbol CHST1
Synonyms (NCBI Gene)
C6STGST-1KS6STKSGal6STKSST
Chromosome 11
Chromosome location 11p11.2
Summary This locus encodes a member of the keratin sulfotransferase family of proteins. The encoded enzyme catalyzes the sulfation of the proteoglycan keratin. [provided by RefSeq, Aug 2011]
miRNA miRNA information provided by mirtarbase database.
41 Show/Hide all (41)
miRTarBase ID miRNA Experiments Reference
MIRT892239 hsa-miR-4704-3p CLIP-seq
MIRT1964400 hsa-miR-1207-5p CLIP-seq
MIRT1964401 hsa-miR-1324 CLIP-seq
MIRT1964402 hsa-miR-197 CLIP-seq
MIRT1964403 hsa-miR-3180 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28 Show/Hide all (28)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0001517 Function N-acetylglucosamine 6-O-sulfotransferase activity IBA
GO:0005515 Function Protein binding IPI 32296183
GO:0005794 Component Golgi apparatus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603797 1969 ENSG00000175264
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43916
Protein name Carbohydrate sulfotransferase 1 (Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 1) (GST-1) (Keratan sulfate Gal-6 sulfotransferase) (KS6ST) (KSGal6ST) (KSST) (EC 2.8.2.21)
Protein function Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of internal galactose (Gal) residues of keratan. Cooperates with B4GALT4 and B3GNT7 glycosyltransferases an
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00685 Sulfotransfer_1 60 → 384 Sulfotransferase domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed at low level. Expressed in brain and skeletal muscle. Expressed by high endothelial cells (HEVs) and leukocytes. {ECO:0000269|PubMed:11310842, ECO:0000269|PubMed:9405439}.
Sequence
Sequence length 411
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Glycosaminoglycan biosynthesis - keratan sulfate Keratan sulfate biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (11)
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 31055733
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — GWAS catalog 32747698
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT — GWAS catalog 28270201
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY — GWAS catalog 33495597
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA — GWAS catalog 35835914
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (8)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anorexia Nervosa Anorexia nervosa Pubtator 35013117 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 9639683 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 32605588 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cataract Cataract BEFREE 7781744
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 35013117 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Osteochondrodysplasias Osteochondrodysplasia LHGDN 18698629
★★★★★
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease BEFREE 15834859
★★★★★
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 35225482 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only