InnateDB Protein
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IDBP-377310.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CHST8
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Protein Name
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carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000392604
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InnateDB Gene
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IDBG-42751 (CHST8)
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Protein Structure
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Function |
Catalyzes the transfer of sulfate to position 4 of non- reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Required for biosynthesis of glycoprotein hormones lutropin and thyrotropin, by mediating sulfation of their carbohydrate structures. Only active against terminal GalNAcbeta1,GalNAcbeta. Not active toward chondroitin. {ECO:0000269PubMed:10988300, ECO:0000269PubMed:11445554}.
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Subcellular Localization |
Golgi apparatus membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.
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Disease Associations |
Note=CHST8 mutations may be a cause of generalized non- inflammatory peeling skin syndrome type A (PubMed:22289416). Peeling skin syndrome (PSS) is a genodermatosis characterized by continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non-inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. {ECO:0000269PubMed:22289416}.
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Tissue Specificity |
Predominantly expressed in pituitary gland. In brain, it is expressed in pituitary gland, cerebellum, medulla oblongata, pons, thalamus and spinal cord. Expressed in the epidermis. Expressed at lower level in lung, spleen, adrenal gland, placenta, prostate, testis, mammary gland and trachea. {ECO:0000269PubMed:10988300, ECO:0000269PubMed:11001942, ECO:0000269PubMed:11445554, ECO:0000269PubMed:22289416}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
Accession |
GO Term |
GO:0001537
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N-acetylgalactosamine 4-O-sulfotransferase activity
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GO:0008146
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sulfotransferase activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR005331
Sulfotransferase
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PFAM |
PF03567
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9H2A9
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PhosphoSite |
PhosphoSite-Q9H2A9
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TrEMBL |
K7ENM3
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UniProt Splice Variant |
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Entrez Gene |
64377
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UniGene |
Hs.165724
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RefSeq |
NP_001121367
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HUGO |
HGNC:15993
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OMIM |
610190
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CCDS |
CCDS12433
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HPRD |
07632
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IMGT |
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EMBL |
AB047801
AC005615
AC007205
AC008994
AC010510
AC011519
AF300612
AF305781
BC011380
BC014250
BC018723
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GenPept |
AAG39444
AAH11380
AAH14250
AAH18723
AAL09373
BAB19806
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