PANK4 (pantothenate kinase 4 (inactive))

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55229
Gene name Gene Name - the full gene name approved by the HGNC.
Pantothenate kinase 4 (inactive)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PANK4
Synonyms (NCBI Gene) Gene synonyms aliases
CTRCT49
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.32
Summary Summary of gene provided in NCBI Entrez Gene.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606162 19366 ENSG00000157881
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cataract cataract 49, early-onset posterior polar cataract, cataract N/A N/A GenCC