PANK3 (pantothenate kinase 3)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 79646 |
| Gene name | Pantothenate kinase 3 |
| Gene symbol | PANK3 |
| Synonyms (NCBI Gene) |
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| Chromosome | 5 |
| Chromosome location | 5q34 |
| Summary | This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynt |
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miRNA
miRNA information provided by mirtarbase database.
702
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9H999 | ||||||||||
| Protein name | Pantothenate kinase 3 (hPanK3) (EC 2.7.1.33) (Pantothenic acid kinase 3) | ||||||||||
| Protein function | Catalyzes the phosphorylation of pantothenate to generate 4'-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis. {ECO:0000269|PubMed:17631502, ECO:0000269|PubMed:20797618, ECO:0000269|PubMed:27555321, ECO:00 | ||||||||||
| PDB | 2I7P , 3MK6 , 3SMS , 5KPR , 5KPT , 5KPZ , 5KQ8 , 5KQD , 6B3V , 6PE6 , 6X4J , 6X4K , 6X4L , 7UE3 , 7UE4 , 7UE5 , 7UE6 , 7UE7 , 7UE8 , 7UEO , 7UEP , 7UEQ , 7UER , 7UES , 7UET , 7UEU , 7UEV , 7UEX , 7UEY | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Highly expressed in the liver. {ECO:0000269|PubMed:11479594}. | ||||||||||
| Sequence |
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| Sequence length | 370 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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