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PANK1 pantothenate kinase 1 [ Homo sapiens (human) ]

Gene ID: 53354, updated on 3-Apr-2024

Summary

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Official Symbol
PANK1provided by HGNC
Official Full Name
pantothenate kinase 1provided by HGNC
Primary source
HGNC:HGNC:8598
See related
Ensembl:ENSG00000152782 MIM:606160; AllianceGenome:HGNC:8598
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PANK
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 regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011]
Expression
Broad expression in liver (RPKM 8.6), kidney (RPKM 7.3) and 16 other tissues See more
Orthologs
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Genomic context

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See PANK1 in Genome Data Viewer
Location:
10q23.31
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (89579495..89645242, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (90463392..90529134, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (91339252..91404999, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3751 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3752 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:91181772-91182971 Neighboring gene interferon induced protein with tetratricopeptide repeats 5 Neighboring gene solute carrier family 16 member 12 Neighboring gene SLC16A12 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:91236124-91236624 Neighboring gene NANOG hESC enhancer GRCh37_chr10:91250383-91250884 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:91293618-91294517 Neighboring gene OCT4 hESC enhancer GRCh37_chr10:91318626-91319150 Neighboring gene microRNA 107 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:91396001-91396502 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2593 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2594 Neighboring gene PANK1 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr10:91453141-91453642 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2595 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:91460993-91461508 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:91461509-91462025 Neighboring gene tigger transposable element derived 2 pseudogene Neighboring gene kinesin family member 20B Neighboring gene NANOG hESC enhancer GRCh37_chr10:91500841-91501342

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Pantothenate Kinase 1 Inhibits the Progression of Hepatocellular Carcinoma by Negatively Regulating Wnt/β-catenin Signaling. Zi Y, et al. Int J Biol Sci, 2022. PMID 35280671, Free PMC Article
  2. In reference to the Short Communication published by Ni et al. Westaway SK, et al. Int J Biochem Cell Biol, 2002 Dec. PMID 12379284
  3. Cloning and characterization of a novel human pantothenate kinase gene. Ni X, et al. Int J Biochem Cell Biol, 2002 Feb. PMID 11809413
  4. PPARalpha controls the intracellular coenzyme A concentration via regulation of PANK1alpha gene expression. Ramaswamy G, et al. J Lipid Res, 2004 Jan. PMID 14523052
  5. p53 activates the PANK1/miRNA-107 gene leading to downregulation of CDK6 and p130 cell cycle proteins. Böhlig L, et al. Nucleic Acids Res, 2011 Jan. PMID 20833636, Free PMC Article

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Pantothenate Kinase 1 Inhibits the Progression of Hepatocellular Carcinoma by Negatively Regulating Wnt/beta-catenin Signaling.
    Title: Pantothenate Kinase 1 Inhibits the Progression of Hepatocellular Carcinoma by Negatively Regulating Wnt/β-catenin Signaling.
  2. 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.
  3. PANK deficiency leads to abnormalities in F-actin organization.
    Title: Cofilin/Twinstar phosphorylation levels increase in response to impaired coenzyme a metabolism.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  5. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
  6. Observational study of gene-disease association. (HuGE Navigator)
    Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
  7. analysis of the homodimeric structures of the catalytic cores of PanK1alpha and PanK3 in complex with acetyl-CoA and the the structural effects of the PanK2 mutations that have been implicated in neurodegeneration
    Title: Crystal structures of human pantothenate kinases. Insights into allosteric regulation and mutations linked to a neurodegeneration disorder.
  8. alternative splicing product
    Title: In reference to the Short Communication published by Ni et al.
  9. PPARalpha transcription factor as a major factor governing hepatic CoA levels by specific modulation of PANK1alpha gene expression
    Title: PPARalpha controls the intracellular coenzyme A concentration via regulation of PANK1alpha gene expression.
  10. molecular cloning and characterization of a new human PanK gene
    Title: Cloning and characterization of a novel human pantothenate kinase gene.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of pantothenate kinase 1 (PANK1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Protein interactions

Protein Gene Interaction Pubs
capsid gag The interaction of HIV-1 CA with human cellular pantothenate kinase 1 protein (PANK1) is identified by yeast two-hybrid screen PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC24596

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables acetyl-CoA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables pantothenate kinase activity EXP
Inferred from Experiment
more info
 PubMed 
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 protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
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 IEA
Inferred from Electronic Annotation
more info
  
involved_in coenzyme A biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in clathrin-coated vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
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 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_612189.2
NP_683878.2
NP_683879.1
XP_016871822.1
XP_016871823.1
XP_016871825.1
XP_047281310.1
XP_054222068.1
XP_054222069.1
XP_054222070.1
XP_054222071.1

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.

Genomic

  1. NG_029474.1 RefSeqGene

    Range
    5331..67585
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_138316.4 → NP_612189.2  pantothenate kinase 1 isoform gamma

    See identical proteins and their annotated locations for NP_612189.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (gamma) differs in the 5' UTR, lacks a portion of the 5' coding region and an internal coding exon, and initiates translation at an alternate start codon, compared to variant alpha. The encoded isoform (gamma) has a distinct N-terminus and is shorter than isoform alpha.
    Source sequence(s)
    AL157400
    Consensus CDS
    CCDS7405.1
    UniProtKB/Swiss-Prot
    Q8TE04
    Related
    ENSP00000318526.6, ENST00000322191.10
    Conserved Domains (1) summary
    pfam03630
    Location:14 → 303
    Fumble

  2. NM_148977.3 → NP_683878.2  pantothenate kinase 1 isoform alpha

    Status: REVIEWED

    Description
    Transcript Variant: This variant (alpha) represents the longest transcript and encodes the longest isoform (alpha).
    Source sequence(s)
    AL157400
    Consensus CDS
    CCDS31244.2
    UniProtKB/TrEMBL
    A0A8C8KBT8, B3KWN3
    Related
    ENSP00000302108.5, ENST00000307534.10
    Conserved Domains (1) summary
    TIGR00555
    Location:100 → 453
    panK_eukar; pantothenate kinase, eukaryotic/staphyloccocal type

  3. NM_148978.3 → NP_683879.1  pantothenate kinase 1 isoform beta

    See identical proteins and their annotated locations for NP_683879.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (beta) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant alpha. The encoded isoform (beta) has a distinct N-terminus and is shorter than isoform alpha.
    Source sequence(s)
    AL157400, AY027662
    Consensus CDS
    CCDS7406.1
    UniProtKB/TrEMBL
    B3KXQ7
    Related
    ENSP00000345118.3, ENST00000342512.4
    Conserved Domains (1) summary
    pfam03630
    Location:14 → 362
    Fumble

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    89579495..89645242 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017016334.2 → XP_016871823.1  pantothenate kinase 1 isoform X2

  2. XM_017016333.3 → XP_016871822.1  pantothenate kinase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q8TE04
    Conserved Domains (1) summary
    pfam03630
    Location:41 → 389
    Fumble; Fumble

  3. XM_047425354.1 → XP_047281310.1  pantothenate kinase 1 isoform X3

  4. XM_017016336.2 → XP_016871825.1  pantothenate kinase 1 isoform X4

    UniProtKB/TrEMBL
    B3KXQ7
    Conserved Domains (1) summary
    pfam03630
    Location:10 → 358
    Fumble; Fumble

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    90463392..90529134 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054366094.1 → XP_054222069.1  pantothenate kinase 1 isoform X2

  2. XM_054366093.1 → XP_054222068.1  pantothenate kinase 1 isoform X1

  3. XM_054366095.1 → XP_054222070.1  pantothenate kinase 1 isoform X3

  4. XM_054366096.1 → XP_054222071.1  pantothenate kinase 1 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TE04.2 GenPept UniProtKB/Swiss-Prot:Q8TE04

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