Gene Gene information from NCBI Gene database.
Entrez ID 53354
Gene name Pantothenate kinase 1
Gene symbol PANK1
Synonyms (NCBI Gene)
PANK
Chromosome 10
Chromosome location 10q23.31
Summary This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is
miRNA miRNA information provided by mirtarbase database.
741
miRTarBase ID miRNA Experiments Reference
MIRT701146 hsa-miR-144-3p HITS-CLIP 23313552
MIRT701145 hsa-miR-101-3p HITS-CLIP 23313552
MIRT701145 hsa-miR-101-3p HITS-CLIP 23313552
MIRT701144 hsa-miR-4464 HITS-CLIP 23313552
MIRT701143 hsa-miR-4748 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004594 Function Pantothenate kinase activity EXP 36983025
GO:0004594 Function Pantothenate kinase activity IBA
GO:0004594 Function Pantothenate kinase activity IDA 14523052
GO:0004594 Function Pantothenate kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606160 8598 ENSG00000152782
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TE04
Protein name Pantothenate kinase 1 (hPanK) (hPanK1) (EC 2.7.1.33) (Pantothenic acid kinase 1)
Protein function [Isoform 1]: Catalyzes the phosphorylation of pantothenate to generate 4'-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis.
PDB 2I7N , 3SMP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03630 Fumble 238 590 Fumble Family
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Expressed at high levels in brain, heart, kidney, liver, skeletal muscle and testis. {ECO:0000269|PubMed:11809413, ECO:0000269|PubMed:14523052}.; TISSUE SPECIFICITY: [Isoform 2]: Detected at much lower levels in kidney, li
Sequence
MLKLVGGGGGQDWACSVAGTSLGGEEAAFEVARPGDQGKAGGGSPGWGCAGIPDSAPGAG
VLQAGAVGPARGGQGAEEVGESAGGGEERRVRHPQAPALRLLNRKPQGGSGEIKTPENDL
QRGRLSRGPRTAPPAPGMGDRSGQQERSVPHSPGAPVGTSAAAVNGLLHNGFHPPPVQPP
HVCSRGPVGGSDAAPQRLPLLPELQPQPLLPQHDSPAKKCRLRRRMDSGRKNRPPFPWFG
MDIGGTLVKLVYFEPKDITAEEEQEEVENLKSIRKYLTSNTAYGKTGIRDVHLELKNLTM
CGRKGNLHFIRFPSCAMHRFIQMGSEKNFSSLHTTLCATGGGAFKFEEDFRMIADLQLHK
LDELDCLIQGLLYVDSVGFNGKPECYYFENPTNPELCQKKPYCLDNPYPMLLVNMGSGVS
ILAVYSKDNYKRVTGTSLGGGTFLGLCCLLTGCETFEEALEMAAKGDSTNVDKLVKDIYG
GDYERFGLQGSAVASSFGNMMSKEKRDSISKEDLARATLVTITNNIGSIARMCALNENID
RVVFVGNFLRINMVSMKLLAYAMDFWSKGQLKALFLEHEGYFGAVGALLE
LFKMTDDK
Sequence length 598
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.).
3
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
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA 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
Breast Neoplasms Breast neoplasm Pubtator 35589867 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 35280671 Associate
★☆☆☆☆
Found in Text Mining only
Dystonia Disorders Dystonia BEFREE 20694531
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 37138430 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 37138430 Inhibit
★☆☆☆☆
Found in Text Mining only
Hallervorden-Spatz Syndrome Pigmentary pallidal degeneration BEFREE 11479594, 15747360, 19602483, 20351285, 21999968, 30352999
★☆☆☆☆
Found in Text Mining only
Hypoplasia of corpus callosum Hypoplasia Of Corpus Callosum BEFREE 20694531
★☆☆☆☆
Found in Text Mining only
Infantile Neuroaxonal Dystrophy Neuroaxonal Dystrophy BEFREE 20619503
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 7602358
★☆☆☆☆
Found in Text Mining only
Mitochondrial Diseases Mitochondrial disease Pubtator 36613877 Associate
★☆☆☆☆
Found in Text Mining only