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

Summary

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. Involved in coenzyme A biosynthetic process. Located in cell periphery and cytoplasm. Is active in cytosol. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Orthologous to human PANK1 (pantothenate kinase 1). [provided by Alliance of Genome Resources, Nov 2024]
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

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_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cardiac PANK1 deletion exacerbates ventricular dysfunction during pressure overload.
Title: Cardiac PANK1 deletion exacerbates ventricular dysfunction during pressure overload.
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.
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.
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.
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.
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.
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)

Endonuclease-mediated (1)
Gene trapped (1)
Targeted (2) 1 citation

General gene information

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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 acetyl-CoA binding	ISS Inferred from Sequence or Structural Similarity 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 protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity 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	IEA Inferred from Electronic Annotation more info
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

Component	Evidence Code	Pubs
located_in cell periphery	IDA Inferred from Direct Assay more info	PubMed
located_in clathrin-coated vesicle	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology 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 nucleolus	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
located_in recycling endosome	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: pantothenate kinase 1

Names: pantothenic acid kinase 1

NP_001107811.1

EC 2.7.1.33

NP_076281.1

EC 2.7.1.33

XP_006527490.1

EC 2.7.1.33

XP_030106986.1

EC 2.7.1.33

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)

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
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

NC_000085.7 Reference GRCm39 C57BL/6J

Range

34784335..34862420 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

pfam03630
Location:14 → 303

Fumble