PANK4 (pantothenate kinase 4 (inactive))

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 55229
Gene name Pantothenate kinase 4 (inactive)
Gene symbol PANK4
Synonyms (NCBI Gene)
CTRCT49
Chromosome 1
Chromosome location 1p36.32
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (15)
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 IMP 30927326
GO:0005524 Function ATP binding IEA
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606162 19366 ENSG00000157881
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NVE7
Protein name 4'-phosphopantetheine phosphatase (EC 3.1.3.-) (Inactive pantothenic acid kinase 4) (hPanK4)
Protein function Phosphatase which shows a preference for 4'-phosphopantetheine and its oxidatively damaged forms (sulfonate or S-sulfonate), providing strong indirect evidence that the phosphatase activity pre-empts damage in the coenzyme A (CoA) pathway (PubMe
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03630 Fumble 36 → 367 Fumble Family
PF01937 DUF89 451 → 762 Protein of unknown function DUF89 Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed with high expression in the muscle (PubMed:11479594). Expressed in the retina and lens epithelium, mainly in ganglion cell layer, outer plexiform layer and retinal pigment layer (at protein level) (PubMed:30585370). {E
Sequence
Sequence length 773
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Coenzyme A biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cataract 49 Pathogenic rs575200084 RCV001733849