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    PANK1 pantothenate kinase 1 [ Homo sapiens (human) ]

    Gene ID: 53354, updated on 10-Dec-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (89579495..89645242, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (90463392..90529134, complement)
    RS_2024_09 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. Inherited Disorders of Coenzyme A Biosynthesis: Models, Mechanisms, and Treatments. Cavestro C, et al. Int J Mol Sci, 2023 Mar 21. PMID 36983025, Free PMC Article
    2. Expression and Prognostic Role of PANK1 in Glioma. Zhao Z, et al. Comb Chem High Throughput Screen, 2024. PMID 37138430, Free PMC Article
    3. 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
    4. Cloning and characterization of a novel human pantothenate kinase gene. Ni X, et al. Int J Biochem Cell Biol, 2002 Feb. PMID 11809413
    5. In reference to the Short Communication published by Ni et al. Westaway SK, et al. Int J Biochem Cell Biol, 2002 Dec. PMID 12379284

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expression and Prognostic Role of PANK1 in Glioma.
      Title: Expression and Prognostic Role of PANK1 in Glioma.
    2. 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.
    3. 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.
    4. PANK deficiency leads to abnormalities in F-actin organization.
      Title: Cofilin/Twinstar phosphorylation levels increase in response to impaired coenzyme a metabolism.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. alternative splicing product
      Title: In reference to the Short Communication published by Ni et al.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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)

    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
    		  
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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_2024_08

    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

      UniProtKB/TrEMBL
      B3KXQ7

    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

      UniProtKB/TrEMBL
      B3KXQ7

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

      UniProtKB/TrEMBL
      B3KXQ7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TE04.2 GenPept UniProtKB/Swiss-Prot:Q8TE04

    Gene LinkOut

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