Details for: CHST6

Gene ID: 4166

Symbol: CHST6

Ensembl ID: ENSG00000183196

Description: carbohydrate sulfotransferase 6

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 6.9914
    Cell Significance Index: -6.6800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.2398
    Cell Significance Index: 35.7200
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 0.9968
    Cell Significance Index: 13.8300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.7967
    Cell Significance Index: 36.1100
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.7920
    Cell Significance Index: 8.1700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.5030
    Cell Significance Index: 17.6800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4556
    Cell Significance Index: 411.3500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4346
    Cell Significance Index: 42.9900
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.3700
    Cell Significance Index: 4.0100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3425
    Cell Significance Index: 20.5600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2927
    Cell Significance Index: 31.8400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2544
    Cell Significance Index: 138.9600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2456
    Cell Significance Index: 5.3200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2433
    Cell Significance Index: 39.5800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2206
    Cell Significance Index: 41.9900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1954
    Cell Significance Index: 13.5200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1739
    Cell Significance Index: 8.1100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0985
    Cell Significance Index: 2.6400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.0821
    Cell Significance Index: 1.1200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0745
    Cell Significance Index: 1.5900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0512
    Cell Significance Index: 1.2800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0253
    Cell Significance Index: 9.0900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0088
    Cell Significance Index: 1.7600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0035
    Cell Significance Index: 0.5100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0018
    Cell Significance Index: 3.3800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0021
    Cell Significance Index: -1.4800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0044
    Cell Significance Index: -6.8400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0046
    Cell Significance Index: -8.4300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0061
    Cell Significance Index: -8.3600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0092
    Cell Significance Index: -5.8200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0099
    Cell Significance Index: -7.2600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0100
    Cell Significance Index: -1.8000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0102
    Cell Significance Index: -7.5800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0103
    Cell Significance Index: -7.8300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0108
    Cell Significance Index: -1.3900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0135
    Cell Significance Index: -2.6700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0136
    Cell Significance Index: -7.6800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0168
    Cell Significance Index: -7.6400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0175
    Cell Significance Index: -7.7500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0181
    Cell Significance Index: -5.2100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0182
    Cell Significance Index: -0.9500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0200
    Cell Significance Index: -2.4600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0220
    Cell Significance Index: -1.3500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0286
    Cell Significance Index: -0.4100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0366
    Cell Significance Index: -7.7100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0420
    Cell Significance Index: -7.1700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0426
    Cell Significance Index: -5.8500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0459
    Cell Significance Index: -1.1800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0477
    Cell Significance Index: -5.5600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0478
    Cell Significance Index: -0.8200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0539
    Cell Significance Index: -6.9600
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.0603
    Cell Significance Index: -0.5900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0633
    Cell Significance Index: -1.7700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0645
    Cell Significance Index: -7.3900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0675
    Cell Significance Index: -6.8900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0708
    Cell Significance Index: -2.9000
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.0715
    Cell Significance Index: -1.1400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0718
    Cell Significance Index: -7.4800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0753
    Cell Significance Index: -8.8800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0771
    Cell Significance Index: -2.4700
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.0801
    Cell Significance Index: -1.3200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0861
    Cell Significance Index: -6.6100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0870
    Cell Significance Index: -4.4000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0919
    Cell Significance Index: -5.7900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0949
    Cell Significance Index: -6.3800
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: -0.0951
    Cell Significance Index: -1.0300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0960
    Cell Significance Index: -5.0000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0990
    Cell Significance Index: -7.3800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0992
    Cell Significance Index: -6.1000
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: -0.0994
    Cell Significance Index: -1.3900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1077
    Cell Significance Index: -6.9500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1093
    Cell Significance Index: -7.7300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1263
    Cell Significance Index: -7.0900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1281
    Cell Significance Index: -5.6700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1437
    Cell Significance Index: -6.7600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1555
    Cell Significance Index: -5.8900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1608
    Cell Significance Index: -8.4400
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1648
    Cell Significance Index: -2.8500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1656
    Cell Significance Index: -5.8000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1682
    Cell Significance Index: -3.5200
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.1702
    Cell Significance Index: -2.5500
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.1795
    Cell Significance Index: -2.5500
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1798
    Cell Significance Index: -2.7100
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1809
    Cell Significance Index: -6.6400
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: -0.1938
    Cell Significance Index: -1.7800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1957
    Cell Significance Index: -6.8000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.2015
    Cell Significance Index: -5.3800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2028
    Cell Significance Index: -6.6400
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.2131
    Cell Significance Index: -3.5900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2135
    Cell Significance Index: -6.8000
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.2238
    Cell Significance Index: -4.4100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2239
    Cell Significance Index: -6.3900
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.2245
    Cell Significance Index: -4.4400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2256
    Cell Significance Index: -6.1400
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.2314
    Cell Significance Index: -5.7800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2377
    Cell Significance Index: -7.0000
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.2379
    Cell Significance Index: -5.1400
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.2486
    Cell Significance Index: -4.9900
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.2522
    Cell Significance Index: -6.2900
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.2531
    Cell Significance Index: -3.8500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** CHST6 is a type II transmembrane protein, consisting of an extracellular N-terminal domain and a transmembrane domain, followed by an intracellular C-terminal domain. The enzyme is a sulfotransferase, responsible for the sulfation of keratan sulfate, which is a process catalyzed by the transfer of a sulfate group from 3'-phosphoadenosine-5'-phosphosulfate (PAPS) to the keratan sulfate molecule. CHST6 is specifically involved in the sulfation of the alpha-1,4-glycosidic bond of keratan sulfate, resulting in the formation of the mature glycosaminoglycan. **Pathways and Functions** CHST6 plays a critical role in keratan sulfate biosynthesis, which is essential for various cellular processes, including: 1. **Cell-cell interactions**: Keratan sulfate is involved in cell-cell interactions, particularly in the development and maintenance of epithelial tissues. 2. **Cell signaling**: Keratan sulfate is a ligand for various receptors, including the nerve growth factor receptor, which is involved in neuronal development and function. 3. **Tissue development**: Keratan sulfate is essential for the development and maintenance of various tissues, including the skin, respiratory epithelium, and brain. 4. **Glycosaminoglycan metabolism**: CHST6 is involved in the sulfation of keratan sulfate, which is a critical step in the metabolism of glycosaminoglycans. **Clinical Significance** Mutations in the CHST6 gene have been associated with a range of disorders, including: 1. **Metachromatic Dysplasia with Cutaneous and Renal Involvement (MCDC1)**: A rare genetic condition characterized by skin and kidney abnormalities. 2. **Keratan sulfate deficiency**: A condition characterized by the deficiency of keratan sulfate in the skin, respiratory epithelium, and brain. 3. **Glycosaminoglycan metabolism disorders**: CHST6 mutations have been associated with various disorders affecting glycosaminoglycan metabolism, including mucopolysaccharidosis and dermatitis. In conclusion, CHST6 is a critical enzyme involved in the sulfation of keratan sulfate, which is essential for various cellular processes, including cell-cell interactions, cell signaling, and tissue development. Mutations in the CHST6 gene have been associated with a range of disorders, highlighting the importance of this enzyme in human health and disease.

Genular Protein ID: 1629071438

Symbol: CHST6_HUMAN

Name: Carbohydrate sulfotransferase 6

UniProtKB Accession Codes:

Q9GZX3 D3DUK3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 2 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 7 Ensembl 4 GO 9 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 3 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11017086

Title: Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene.

PubMed ID: 11017086

DOI: 10.1038/79987

PubMed ID: 11181564

Title: Chromosomal localization and genomic organization for the galactose/ N-acetylgalactosamine/N-acetylglucosamine 6-O-sulfotransferase gene family.

PubMed ID: 11181564

DOI: 10.1093/glycob/11.1.75

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11352640

Title: Sulfation of endothelial mucin by corneal keratan N-acetylglucosamine 6-O-sulfotransferase (GST-4beta).

PubMed ID: 11352640

DOI: 10.1006/bbrc.2001.4668

PubMed ID: 11278593

Title: Human corneal GlcNAc 6-O-sulfotransferase and mouse intestinal GlcNAc 6-O-sulfotransferase both produce keratan sulfate.

PubMed ID: 11278593

DOI: 10.1074/jbc.m009995200

PubMed ID: 12218059

Title: Enzymatic synthesis in vitro of the disulfated disaccharide unit of corneal keratan sulfate.

PubMed ID: 12218059

DOI: 10.1074/jbc.m207412200

PubMed ID: 17690104

Title: Enzymes responsible for synthesis of corneal keratan sulfate glycosaminoglycans.

PubMed ID: 17690104

DOI: 10.1074/jbc.m703695200

PubMed ID: 11139648

Title: Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland.

PubMed ID: 11139648

PubMed ID: 11818380

Title: Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.

PubMed ID: 11818380

PubMed ID: 12824236

Title: Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy.

PubMed ID: 12824236

DOI: 10.1167/iovs.02-0740

PubMed ID: 12882769

Title: Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity.

PubMed ID: 12882769

DOI: 10.1167/iovs.02-0910

PubMed ID: 12883341

Title: Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations.

PubMed ID: 12883341

DOI: 10.1097/00003226-200308000-00004

PubMed ID: 12882775

Title: Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy.

PubMed ID: 12882775

DOI: 10.1167/iovs.03-0031

PubMed ID: 14609920

Title: Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India.

PubMed ID: 14609920

DOI: 10.1001/archopht.121.11.1608

PubMed ID: 14735064

Title: Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India.

PubMed ID: 14735064

PubMed ID: 14984470

Title: Novel mutations in the CHST6 gene causing macular corneal dystrophy.

PubMed ID: 14984470

DOI: 10.1111/j.0009-9163.2004.00191.x

PubMed ID: 15013869

Title: Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy.

PubMed ID: 15013869

DOI: 10.1016/j.ajo.2003.09.036

PubMed ID: 15652851

Title: Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.

PubMed ID: 15652851

DOI: 10.1016/j.ajo.2004.07.001

PubMed ID: 19365571

Title: Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6.

PubMed ID: 19365571

PubMed ID: 21242781

Title: Novel CHST6 gene mutations in 2 unrelated cases of macular corneal dystrophy.

PubMed ID: 21242781

DOI: 10.1097/ico.0b013e3182012888

PubMed ID: 24311932

Title: A case of Korean patient with macular corneal dystrophy associated with novel mutation in the CHST6 gene.

PubMed ID: 24311932

DOI: 10.3341/kjo.2013.27.6.454

PubMed ID: 26604660

Title: Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations.

PubMed ID: 26604660

Sequence Information:

  • Length: 395
  • Mass: 44099
  • Checksum: 433CA60248A48F67
  • Sequence:
    • MWLPRVSSTA VTALLLAQTF LLLFLVSRPG PSSPAGGEAR VHVLVLSSWR SGSSFVGQLF 
NQHPDVFYLM EPAWHVWTTL SQGSAATLHM AVRDLVRSVF LCDMDVFDAY LPWRRNLSDL 
FQWAVSRALC SPPACSAFPR GAISSEAVCK PLCARQSFTL AREACRSYSH VVLKEVRFFN 
LQVLYPLLSD PALNLRIVHL VRDPRAVLRS REQTAKALAR DNGIVLGTNG TWVEADPGLR 
VVREVCRSHV RIAEAATLKP PPFLRGRYRL VRFEDLAREP LAEIRALYAF TGLSLTPQLE 
AWIHNITHGS GPGARREAFK TSSRNALNVS QAWRHALPFA KIRRVQELCA GALQLLGYRP 
VYSEDEQRNL ALDLVLPRGL NGFTWASSTA SHPRN

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.