CHPF Gene - Chondroitin Polymerizing Factor
Comprehensive genomic and functional overview of CHPF, a key enzyme in glycosaminoglycan biosynthesis.
Gene Information Card
| Symbol | CHPF |
|---|---|
| Full Name | Chondroitin Polymerizing Factor |
| Gene Type | Protein coding |
| Chromosomal Location | 2q35 |
| NCBI Gene ID | 79586 ncbi.nlm.nih.gov/gene/79586 |
| Ensembl ID | ENSG00000163041 |
| UniProt ID | Q8IZ52 |
| OMIM ID | 610187 |
| HGNC ID | 24291 |
| Aliases | CHSY2, CSS2, CHPF1 |
Description
CHPF (chondroitin polymerizing factor) encodes a type II transmembrane protein that functions as a bifunctional glycosyltransferase involved in chondroitin sulfate biosynthesis. It catalyzes the polymerization of the chondroitin backbone by transferring both N-acetylgalactosamine and glucuronic acid residues. CHPF is essential for normal cartilage and extracellular matrix formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chondrodysplasia | Impaired chondroitin sulfate synthesis due to CHPF mutations leads to skeletal abnormalities. | OMIM #610187 |
| Osteoarthritis | Altered CHPF expression may contribute to cartilage degradation. | NCBI Gene |
| Colorectal cancer | CHPF overexpression promotes tumor growth and metastasis via enhanced glycosaminoglycan production. | COSMIC |
| Breast cancer | Upregulation of CHPF correlates with poor prognosis and invasive phenotype. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cartilage | 12.5 | High |
| Brain | 8.3 | Medium |
| Heart | 6.1 | Medium |
| Liver | 2.4 | Low |
| Kidney | 3.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.8 | Cervical cancer cell line |
| HCT116 | 11.2 | Colorectal carcinoma cell line |
| MCF7 | 7.5 | Breast cancer cell line |
| HEK293 | 5.3 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Reduced enzyme activity |
| c.789delG (p.Gly264fs) | Frameshift | <0.01% | Loss of function |
| c.1567A>G (p.Asn523Asp) | Missense | 0.02% | Altered substrate specificity |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated, non-functional protein.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018) | • acetylglucosaminyltransferase activity (GO:0008375) |
| • chondroitin sulfate biosynthetic process (GO:0030206) | • Golgi apparatus (GO:0005794) |
Pathways
• Chondroitin sulfate/dermatan sulfate biosynthesis (Reactome: R-HSA-1793185)
• Glycosaminoglycan metabolism (KEGG: hsa00532)
Protein Summary
CHPF is a 775-amino acid type II transmembrane protein localized to the Golgi apparatus. It contains a short N-terminal cytoplasmic tail, a transmembrane domain, and a large luminal catalytic domain. The protein functions as a bifunctional glycosyltransferase that adds alternating N-acetylgalactosamine and glucuronic acid residues to extend the chondroitin sulfate chain. CHPF often forms a complex with CHPF2 to enhance polymerizing activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHPF2 Knockout HEK293 Cell Line | EDJ-KQ11435 | Human | 54480 | Details Get a Quote |
| CHPF Knockout HEK293 Cell Line | EDJ-KQ12914 | Human | 79586 | Details Get a Quote |
| CHPF Knockout A-549 Cell Line | EDJ-KQ42112 | Human | 79586 | Details Get a Quote |
| CHPF Knockout HCT 116 Cell Line | EDJ-KQ42113 | Human | 79586 | Details Get a Quote |
| CHPF Knockout HeLa Cell Line | EDJ-KQ42114 | Human | 79586 | Details Get a Quote |
| CHPF2 Knockout A-549 Cell Line | EDJ-KQ38361 | Human | 54480 | Details Get a Quote |
| CHPF2 Knockout HCT 116 Cell Line | EDJ-KQ39695 | Human | 54480 | Details Get a Quote |
| CHPF2 Knockout HeLa Cell Line | EDJ-KQ39696 | Human | 54480 | Details Get a Quote |
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