Gene Gene information from NCBI Gene database.
Entrez ID 79646
Gene name Pantothenate kinase 3
Gene symbol PANK3
Synonyms (NCBI Gene)
-
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
miRNA miRNA information provided by mirtarbase database.
702
miRTarBase ID miRNA Experiments Reference
MIRT024196 hsa-miR-221-3p Sequencing 20371350
MIRT029690 hsa-miR-26b-5p Microarray 19088304
MIRT048409 hsa-miR-100-5p CLASH 23622248
MIRT046819 hsa-miR-222-3p CLASH 23622248
MIRT044402 hsa-miR-320a CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004594 Function Pantothenate kinase activity IBA
GO:0004594 Function Pantothenate kinase activity IDA 20797618, 30927326
GO:0004594 Function Pantothenate kinase activity IEA
GO:0004594 Function Pantothenate kinase activity IMP 17631502, 27555321
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606161 19365 ENSG00000120137
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF03630 Fumble 13 365 Fumble Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in the liver. {ECO:0000269|PubMed:11479594}.
Sequence
Sequence length 370
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Pantothenate and CoA biosynthesis
Metabolic pathways
Biosynthesis of cofactors
  Coenzyme A biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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.
Phenotype Name Clinical Significance Source Evidence Score
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Mitochondrial Diseases Mitochondrial disease Pubtator 36613877 Associate
★☆☆☆☆
Found in Text Mining only
Periodontitis Periodontitis BEFREE 29516510
★☆☆☆☆
Found in Text Mining only