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Pank1 pantothenate kinase 1 [ Mus musculus (house mouse) ]

Gene ID: 75735, updated on 21-Apr-2024

Summary

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Official Symbol
Pank1provided by MGI
Official Full Name
pantothenate kinase 1provided by MGI
Primary source
MGI:MGI:1922985
See related
Ensembl:ENSMUSG00000033610 AllianceGenome:MGI:1922985
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Pank; Pank1b
Summary
Enables pantothenate kinase activity. Acts upstream of or within coenzyme A biosynthetic process. Located in several cellular components, including cytosol; nucleus; and recycling endosome. Part of clathrin coat. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and sensory organ. Orthologous to human PANK1 (pantothenate kinase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary adult (RPKM 4.1), liver adult (RPKM 3.2) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
19 C1; 19 29.79 cM
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (34784335..34862420, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (34806935..34883423, complement)

Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene solute carrier family 16 (monocarboxylic acid transporters), member 12 Neighboring gene predicted gene, 18425 Neighboring gene STARR-seq mESC enhancer starr_46002 Neighboring gene STARR-seq mESC enhancer starr_46003 Neighboring gene STARR-seq mESC enhancer starr_46004 Neighboring gene predicted gene, 22082 Neighboring gene microRNA 107 Neighboring gene STARR-positive B cell enhancer ABC_E2525 Neighboring gene STARR-seq mESC enhancer starr_46008 Neighboring gene STARR-seq mESC enhancer starr_46009 Neighboring gene STARR-seq mESC enhancer starr_46010 Neighboring gene kinesin family member 20B Neighboring gene microRNA 1950 Neighboring gene proteasome (prosome, macropain) subunit, alpha type 5 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Cardiac PANK1 deletion exacerbates ventricular dysfunction during pressure overload. Audam TN, et al. Am J Physiol Heart Circ Physiol, 2021 Oct 1. PMID 34533403, Free PMC Article
  2. A pantothenate kinase-deficient mouse model reveals a gene expression program associated with brain coenzyme a reduction. Subramanian C, et al. Biochim Biophys Acta Mol Basis Dis, 2020 May 1. PMID 31918006, Free PMC Article
  3. Correction of a genetic deficiency in pantothenate kinase 1 using phosphopantothenate replacement therapy. Zano SP, et al. Mol Genet Metab, 2015 Dec. PMID 26549575, Free PMC Article
  4. Pantothenate kinase regulation of the intracellular concentration of coenzyme A. Rock CO, et al. J Biol Chem, 2000 Jan 14. PMID 10625688
  5. A therapeutic approach to pantothenate kinase associated neurodegeneration. Sharma LK, et al. Nat Commun, 2018 Oct 23. PMID 30352999, Free PMC Article

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Cardiac PANK1 deletion exacerbates ventricular dysfunction during pressure overload.
    Title: Cardiac PANK1 deletion exacerbates ventricular dysfunction during pressure overload.
  2. P53/PANK1/miR-107 signalling pathway spans the gap between metabolic reprogramming and insulin resistance induced by high-fat diet.
    Title: P53/PANK1/miR-107 signalling pathway spans the gap between metabolic reprogramming and insulin resistance induced by high-fat diet.
  3. Pank1 genetic deficiency can be corrected using phosphopantothenate diet replacement therapy.
    Title: Correction of a genetic deficiency in pantothenate kinase 1 using phosphopantothenate replacement therapy.
  4. The results indicate that Pank1 deficiency drives a whole-body metabolic adaptation that improves aspects of the diabetic phenotype and uncouples hyperglycaemia and hyperinsulinaemia from obesity in leptin-deficient mice.
    Title: Pank1 deletion in leptin-deficient mice reduces hyperglycaemia and hyperinsulinaemia and modifies global metabolism without affecting insulin resistance.
  5. p53 plays an important role in regulating energy homeostasis through transcriptional control of PANK1.
    Title: p53-Dependent regulation of metabolic function through transcriptional activation of pantothenate kinase-1 gene.
  6. The data indicate that PanK1 and PanK2 can compensate for each other to supply tissue CoA.
    Title: Germline deletion of pantothenate kinases 1 and 2 reveals the key roles for CoA in postnatal metabolism.
  7. data illustrate the importance of PanK1 and elevated liver CoA levels during fasting to support the metabolic transition from glucose utilization and fatty acid synthesis to gluconeogenesis and fatty acid oxidation
    Title: Pantothenate kinase 1 is required to support the metabolic transition from the fed to the fasted state.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (2)  1 citation
  • Endonuclease-mediated (1) 

General gene information

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Markers

Homology

Clone Names

  • 4632412I06Rik, 5430426F23Rik

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables acetyl-CoA binding ISO
Inferred from Sequence Orthology
more info
  
enables kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables pantothenate kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables pantothenate kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables pantothenate kinase activity IGI
Inferred from Genetic Interaction
more info
 PubMed 
enables pantothenate kinase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables pantothenate kinase activity ISO
Inferred from Sequence Orthology
more info
  
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
  
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in coenzyme A biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in coenzyme A biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in coenzyme A biosynthetic process IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within coenzyme A biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within coenzyme A biosynthetic process TAS
Traceable Author Statement
more info
  
acts_upstream_of_or_within phosphorylation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cell periphery IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in endosome IEA
Inferred from Electronic Annotation
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
pantothenate kinase 1
Names
pantothenic acid kinase 1
NP_001107811.1
NP_076281.1
XP_006527490.1
XP_030106986.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001114339.2 → NP_001107811.1  pantothenate kinase 1 isoform 1

    See identical proteins and their annotated locations for NP_001107811.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1, also known as alpha).
    Source sequence(s)
    AC113244, AC125259, AF200357, AK017345
    Consensus CDS
    CCDS50424.1
    UniProtKB/Swiss-Prot
    Q8K4K6, Q9D3K1, Q9QXM8
    Related
    ENSMUSP00000043562.6, ENSMUST00000036584.13
    Conserved Domains (1) summary
    pfam03630
    Location:189 → 537
    Fumble; Fumble

  2. NM_023792.2 → NP_076281.1  pantothenate kinase 1 isoform 2

    See identical proteins and their annotated locations for NP_076281.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate 5'-terminal exon, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2, also known as beta) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC125259, AF200357
    Consensus CDS
    CCDS37966.1
    UniProtKB/TrEMBL
    Q543J7
    Related
    ENSMUSP00000108079.2, ENSMUST00000112460.3
    Conserved Domains (1) summary
    pfam03630
    Location:14 → 362
    Fumble; Fumble

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000085.7 Reference GRCm39 C57BL/6J

    Range
    34784335..34862420 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006527427.5 → XP_006527490.1  pantothenate kinase 1 isoform X1

    Conserved Domains (2) summary
    PHA03309
    Location:5 → 185
    PHA03309; transcriptional regulator ICP4; Provisional
    pfam03630
    Location:189 → 478
    Fumble

  2. XM_030251126.2 → XP_030106986.1  pantothenate kinase 1 isoform X2

    Conserved Domains (1) summary
    pfam03630
    Location:14 → 303
    Fumble
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8K4K6.1 GenPept UniProtKB/Swiss-Prot:Q8K4K6

Gene LinkOut

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